#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
KCNAB2	8514	broad.mit.edu	37	1	6156774	6156774	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:6156774A>G	ENST00000164247.1	+	14	1447	c.883A>G	c.(883-885)Atc>Gtc	p.I295V	KCNAB2_ENST00000378083.3_Missense_Mutation_p.I343V|KCNAB2_ENST00000458166.2_Missense_Mutation_p.I228V|KCNAB2_ENST00000378092.1_Missense_Mutation_p.I281V|KCNAB2_ENST00000602612.1_Missense_Mutation_p.I295V|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Missense_Mutation_p.I281V|KCNAB2_ENST00000341524.1_Missense_Mutation_p.I295V|KCNAB2_ENST00000378097.1_Missense_Mutation_p.I295V	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	295					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCAGGCCATCGCCGAGCG	0.692																																						uc009vlv.1		NaN																	0					0						c.(883-885)ATC>GTC		potassium voltage-gated channel, shaker-related							22.0	24.0	23.0					1																	6156774		2186	4284	6470	SO:0001583	missense	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6156774A>G	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.883A>G	1.37:g.6156774A>G	ENSP00000164247:p.Ile295Val					KCNAB2_uc001alv.1_Missense_Mutation_p.I295V|KCNAB2_uc001alw.1_Missense_Mutation_p.I281V|KCNAB2_uc001alx.1_Missense_Mutation_p.I295V|KCNAB2_uc001aly.1_Missense_Mutation_p.I343V|KCNAB2_uc009vlw.1_Missense_Mutation_p.I228V|KCNAB2_uc001alu.2_Missense_Mutation_p.I295V	p.I295V	NM_003636	NP_003627	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	14	1018	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	295					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	c.883A>G	CCDS55.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375453	0.42105	.	.	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.26	4.13	0.48395	NADP-dependent oxidoreductase domain (3);	0.046897	0.85682	N	0.000000	T	0.19167	0.0460	L	0.31476	0.935	0.53688	D	0.999977	B;B;B;B	0.14805	0.008;0.004;0.001;0.011	B;B;B;B	0.18871	0.023;0.013;0.01;0.017	T	0.03354	-1.1045	10	0.31617	T	0.26	-19.4012	11.9416	0.52905	0.8545:0.1455:0.0:0.0	.	343;281;295;295	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	V	295;281;295;281;295;343;228	ENSP00000367337:I295V;ENSP00000367332:I281V;ENSP00000340824:I295V;ENSP00000318772:I281V;ENSP00000164247:I295V;ENSP00000367323:I343V;ENSP00000396167:I228V	ENSP00000164247:I295V	I	+	1	0	KCNAB2	6079361	1.000000	0.71417	0.986000	0.45419	0.822000	0.46500	4.059000	0.57470	0.946000	0.37632	-0.291000	0.09656	ATC		0.692	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3		NM_172130		5	7	0	0	0	0.014758	0	5	7		
PLEKHG5	57449	broad.mit.edu	37	1	6529488	6529488	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:6529488C>T	ENST00000400915.3	-	19	2190	c.2124G>A	c.(2122-2124)ctG>ctA	p.L708L	PLEKHG5_ENST00000377728.3_Silent_p.L652L|PLEKHG5_ENST00000377740.3_Silent_p.L729L|PLEKHG5_ENST00000377737.2_Silent_p.L652L|PLEKHG5_ENST00000377732.1_Silent_p.L689L|PLEKHG5_ENST00000377725.1_Silent_p.L652L|PLEKHG5_ENST00000537245.1_Silent_p.L731L|PLEKHG5_ENST00000377748.1_Silent_p.L729L|PLEKHG5_ENST00000535355.1_Silent_p.L721L|PLEKHG5_ENST00000340850.5_Silent_p.L652L|PLEKHG5_ENST00000544978.1_Silent_p.L652L|PLEKHG5_ENST00000400913.1_Silent_p.L652L	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	708	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GAAACTCATTCAGGTAGATAA	0.592																																						uc001ano.1		NaN																	0				liver(1)	1						c.(2122-2124)CTG>CTA		pleckstrin homology domain containing family G							112.0	120.0	117.0					1																	6529488		2203	4300	6503	SO:0001819	synonymous_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6529488C>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2124G>A	1.37:g.6529488C>T						PLEKHG5_uc001ann.1_Silent_p.L689L|PLEKHG5_uc001anq.1_Silent_p.L729L|PLEKHG5_uc001anp.1_Silent_p.L729L|PLEKHG5_uc001anj.1_Silent_p.L213L|PLEKHG5_uc009vma.1_Silent_p.L492L|PLEKHG5_uc010nzr.1_Silent_p.L721L|PLEKHG5_uc001ank.1_Silent_p.L652L|PLEKHG5_uc009vmb.1_Silent_p.L652L|PLEKHG5_uc001anl.1_Silent_p.L652L|PLEKHG5_uc001anm.1_Silent_p.L652L|PLEKHG5_uc001anr.1_5'Flank	p.L708L	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	19	2225	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	708			PH.		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	c.2124G>A	CCDS41241.1																																																																																				0.592	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1		NM_020631		39	140	0	0	0	0.021022	0	39	140		
SLC45A1	50651	broad.mit.edu	37	1	8385897	8385897	+	Silent	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:8385897G>T	ENST00000471889.1	+	4	895	c.510G>T	c.(508-510)tcG>tcT	p.S170S	SLC45A1_ENST00000377479.2_Silent_p.S204S|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.S170S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	170					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCTCTCGCTCTTGCTGA	0.597																																						uc001apb.2		NaN																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(508-510)TCG>TCT		DNB5							81.0	76.0	78.0					1																	8385897		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8385897G>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.510G>T	1.37:g.8385897G>T							p.S170S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	3	510	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	170			Helical; (Potential).		Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.510G>T	CCDS30577.1																																																																																				0.597	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5				14	60	1	0	7.93312e-07	0.020292	8.4505e-07	14	60		
LYPLA2	11313	broad.mit.edu	37	1	24124667	24124667	+	IGR	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:24124667C>T	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Silent_p.S97S|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTTCTGCACCGACTCGCCCA	0.562																																						uc009vqo.1		NaN																	0					0						c.(289-291)TCG>TCA		UDP-galactose-4-epimerase							56.0	56.0	56.0					1																	24124667		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24124667C>T	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124667C>T						GALE_uc001bhv.1_Silent_p.S97S|GALE_uc001bhw.1_Silent_p.S97S|GALE_uc001bhx.1_Silent_p.S97S|GALE_uc009vqp.1_Silent_p.S97S|GALE_uc001bhy.1_Silent_p.S97S|GALE_uc001bhz.1_Silent_p.S23S|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR	p.S97S	NM_001127621	NP_001121093	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	4	501	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	97					Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	c.291G>A	CCDS241.1																																																																																				0.562	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1				5	96	0	0	0	0.014758	0	5	96		
SEPN1	57190	broad.mit.edu	37	1	26140386	26140386	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:26140386C>T	ENST00000374315.1	+	10	1338	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	SEPN1_ENST00000354177.4_Missense_Mutation_p.L434F|RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000361547.2_Missense_Mutation_p.L468F|SEPN1_ENST00000494537.1_3'UTR|RP1-317E23.3_ENST00000442055.1_RNA	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	468						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGGACTCTCCGGGAGAC	0.602																																						uc010oer.1		NaN																	0				ovary(2)	2						c.(1402-1404)CTC>TTC		selenoprotein N, 1 isoform 1 precursor							81.0	83.0	82.0					1																	26140386		1963	4154	6117	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26140386C>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1300C>T	1.37:g.26140386C>T	ENSP00000363434:p.Leu434Phe					SEPN1_uc010oes.1_Missense_Mutation_p.L434F	p.L468F	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	14	1457	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	468					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.1402C>T	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499320	0.85069	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.92965	-3.14;-3.11;-3.11	5.44	4.53	0.55603	.	0.065210	0.64402	N	0.000006	D	0.90508	0.7026	M	0.65975	2.015	0.58432	D	0.999999	B;B	0.34372	0.412;0.451	B;B	0.32583	0.148;0.124	D	0.90105	0.4187	10	0.87932	D	0	-39.8614	14.0484	0.64719	0.0:0.9268:0.0:0.0732	.	434;468	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	F	468;434;434	ENSP00000355141:L468F;ENSP00000346109:L434F;ENSP00000363434:L434F	ENSP00000346109:L434F	L	+	1	0	SEPN1	26012973	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	1.291000	0.44653	0.462000	0.41574	CTC		0.602	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2		NM_020451		11	67	0	0	0	0.010729	0	11	67		
THEMIS2	9473	broad.mit.edu	37	1	28208582	28208582	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:28208582G>A	ENST00000373921.3	+	4	751	c.747G>A	c.(745-747)ctG>ctA	p.L249L	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Silent_p.L249L|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	249	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CGCTGCTGCTGAGCGAGGTCC	0.637																																						uc001bpc.3		NaN																	0				ovary(1)	1						c.(745-747)CTG>CTA		basement membrane-induced gene isoform 3							58.0	60.0	60.0					1																	28208582		2079	4220	6299	SO:0001819	synonymous_variant	9473				cell adhesion|inflammatory response			g.chr1:28208582G>A	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.747G>A	1.37:g.28208582G>A						C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Silent_p.L249L	p.L249L	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	4	775	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	249			CABIT 2.		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	ENST00000373921.3	37	c.747G>A	CCDS41290.1																																																																																				0.637	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1		NM_004848		15	46	0	0	0	0.00499	0	15	46		
ZMYM1	79830	broad.mit.edu	37	1	35580244	35580244	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:35580244G>C	ENST00000373330.1	+	11	2987	c.2813G>C	c.(2812-2814)aGa>aCa	p.R938T	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R938T			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	938						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCAGAAAAGAAGAAAAATT	0.284																																						uc001bym.2		NaN																	0					0						c.(2812-2814)AGA>ACA		zinc finger, MYM domain containing 1							18.0	19.0	19.0					1																	35580244		1755	3961	5716	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580244G>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2813G>C	1.37:g.35580244G>C	ENSP00000362427:p.Arg938Thr					ZMYM1_uc001byn.2_Missense_Mutation_p.R938T|ZMYM1_uc010ohu.1_Missense_Mutation_p.R919T|ZMYM1_uc001byo.2_Missense_Mutation_p.R578T|ZMYM1_uc009vut.2_Missense_Mutation_p.R863T	p.R938T	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	2961	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	938					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2813G>C	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	6.221	0.408876	0.11812	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.21932	1.98;1.98;1.98	4.21	2.34	0.29019	Ribonuclease H-like (1);	0.260026	0.27856	N	0.017577	T	0.12135	0.0295	N	0.24115	0.695	0.28394	N	0.918932	P;B	0.36282	0.546;0.319	B;B	0.35550	0.205;0.149	T	0.14008	-1.0488	9	.	.	.	-11.8078	8.6497	0.34027	0.1921:0.0:0.8079:0.0	.	919;938	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	T	938;863;938	ENSP00000352920:R938T;ENSP00000362426:R863T;ENSP00000362427:R938T	.	R	+	2	0	ZMYM1	35352831	1.000000	0.71417	0.996000	0.52242	0.131000	0.20780	2.098000	0.41757	0.737000	0.32582	0.557000	0.71058	AGA		0.284	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772		4	54	0	0	0	0.014758	0	4	54		
KCNQ4	9132	broad.mit.edu	37	1	41282936	41282936	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:41282936G>C	ENST00000347132.5	+	2	396		c.e2-1		KCNQ4_ENST00000509682.2_Splice_Site	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TGTAATTGCAGATTTTTGCTG	0.522																																						uc001cgh.1		NaN																	0				central_nervous_system(1)	1						c.e2-1		potassium voltage-gated channel KQT-like protein							101.0	95.0	97.0					1																	41282936		2203	4300	6503	SO:0001630	splice_region_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41282936G>C	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.315-1G>C	1.37:g.41282936G>C						KCNQ4_uc001cgi.1_Splice_Site_p.I105_splice	p.I105_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		2	397	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)						O96025	Splice_Site	SNP	ENST00000347132.5	37	c.315_splice	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088192	0.20390	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6174	0.84920	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNQ4	41055523	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	9.813000	0.99286	2.584000	0.87258	0.563000	0.77884	.		0.522	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1		NM_004700	Intron	4	28	0	0	0	0.009096	0	4	28		
SLC2A1	6513	broad.mit.edu	37	1	43395392	43395392	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:43395392C>T	ENST00000426263.3	-	6	917	c.739G>A	c.(739-741)Gag>Aag	p.E247K	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	247					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCCGACTCTCTTCCTTCATC	0.627																																						uc001cik.2		NaN																	0				central_nervous_system(2)|pancreas(2)|ovary(1)	5						c.(739-741)GAG>AAG		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)						144.0	137.0	139.0					1																	43395392		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395392C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.739G>A	1.37:g.43395392C>T	ENSP00000416293:p.Glu247Lys						p.E247K	NM_006516	NP_006507	P11166	GTR1_HUMAN			6	1264	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	247			Cytoplasmic (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.739G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358658	0.61403	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.74737	-0.87;-0.87	5.14	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.045990	0.85682	D	0.000000	D	0.86497	0.5947	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.87983	0.2744	10	0.87932	D	0	.	11.6032	0.51015	0.0:0.9126:0.0:0.0874	.	247	P11166	GTR1_HUMAN	K	247;247;189;152	ENSP00000416293:E247K;ENSP00000395521:E152K	ENSP00000361579:E247K	E	-	1	0	SLC2A1	43167979	1.000000	0.71417	0.997000	0.53966	0.086000	0.17979	7.818000	0.86416	1.164000	0.42652	-0.300000	0.09419	GAG		0.627	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2		NM_006516		60	124	0	0	0	0.01441	0	60	124		
SLC2A1	6513	broad.mit.edu	37	1	43395395	43395395	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:43395395C>T	ENST00000426263.3	-	6	914	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	246					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CGACTCTCTTCCTTCATCTCC	0.622																																						uc001cik.2		NaN																	0				central_nervous_system(2)|pancreas(2)|ovary(1)	5						c.(736-738)GAA>AAA		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)						144.0	138.0	140.0					1																	43395395		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395395C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.736G>A	1.37:g.43395395C>T	ENSP00000416293:p.Glu246Lys						p.E246K	NM_006516	NP_006507	P11166	GTR1_HUMAN			6	1261	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	246			Cytoplasmic (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.736G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568511	0.28003	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.74421	-0.84;-0.84	5.14	3.25	0.37280	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.282674	0.41396	D	0.000897	T	0.61664	0.2365	L	0.48218	1.51	0.80722	D	1	B	0.19445	0.036	B	0.21360	0.034	T	0.48375	-0.9041	10	0.10902	T	0.67	.	7.9169	0.29822	0.1603:0.7544:0.0:0.0852	.	246	P11166	GTR1_HUMAN	K	246;246;188;151	ENSP00000416293:E246K;ENSP00000395521:E151K	ENSP00000361579:E246K	E	-	1	0	SLC2A1	43167982	1.000000	0.71417	0.997000	0.53966	0.122000	0.20287	7.818000	0.86416	0.560000	0.29169	-0.320000	0.08662	GAA		0.622	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2		NM_006516		61	122	0	0	0	0.01441	0	61	122		
MMACHC	25974	broad.mit.edu	37	1	45966020	45966020	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:45966020G>T	ENST00000401061.4	+	1	296	c.16G>T	c.(16-18)Gca>Tca	p.A6S	CCDC163P_ENST00000502793.2_5'Flank|CCDC163P_ENST00000488405.2_5'Flank|CCDC163P_ENST00000432082.1_5'Flank|CCDC163P_ENST00000490551.3_5'Flank	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	6					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCGAAAGTCGCAGAGCTGAA	0.512																																						uc009vxv.2		NaN																	0					0						c.(16-18)GCA>TCA		methylmalonic aciduria (cobalamin deficiency)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						213.0	210.0	211.0					1																	45966020		2005	4170	6175	SO:0001583	missense	25974						cobalamin binding	g.chr1:45966020G>T		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.16G>T	1.37:g.45966020G>T	ENSP00000383840:p.Ala6Ser					CCDC163P_uc001cnt.2_5'Flank|CCDC163P_uc001cnw.2_5'Flank|CCDC163P_uc001cnu.2_5'Flank|CCDC163P_uc009vxt.1_5'Flank|CCDC163P_uc001cnv.2_5'Flank|CCDC163P_uc009vxu.1_5'Flank|MMACHC_uc001cny.2_RNA	p.A6S	NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN			1	165	+	Acute lymphoblastic leukemia(166;0.155)		6					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.16G>T	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519282	0.44866	.	.	ENSG00000132763	ENST00000401061	D	0.95342	-3.68	5.78	3.87	0.44632	.	0.375051	0.29916	N	0.010864	D	0.90810	0.7114	L	0.51422	1.61	0.35710	D	0.816303	B	0.02656	0.0	B	0.09377	0.004	D	0.86456	0.1776	10	0.12430	T	0.62	-9.4106	13.1156	0.59297	0.0:0.0:0.7086:0.2914	.	6	Q9Y4U1	MMAC_HUMAN	S	6	ENSP00000383840:A6S	ENSP00000383840:A6S	A	+	1	0	MMACHC	45738607	0.998000	0.40836	0.994000	0.49952	0.773000	0.43773	2.358000	0.44134	0.760000	0.33108	0.563000	0.77884	GCA		0.512	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2		NM_015506		17	131	1	0	3.52763e-06	0.00499	3.71159e-06	17	131		
SLC5A9	200010	broad.mit.edu	37	1	48701486	48701486	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:48701486C>T	ENST00000438567.2	+	10	1279	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC5A9_ENST00000236495.5_Silent_p.F434F|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.F430F	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	409					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCACCCTGTTCACCATTGATG	0.612																																						uc001cro.2		NaN																	0				ovary(3)	3						c.(1225-1227)TTC>TTT		solute carrier family 5 (sodium/glucose							125.0	95.0	105.0					1																	48701486		2203	4300	6503	SO:0001819	synonymous_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48701486C>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1227C>T	1.37:g.48701486C>T						SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.F434F|SLC5A9_uc010omt.1_Silent_p.F423F|SLC5A9_uc001crp.2_Silent_p.F76F|SLC5A9_uc010omu.1_Silent_p.F76F	p.F409F	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			10	1279	+			409			Cytoplasmic (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	c.1227C>T	CCDS30709.2																																																																																				0.612	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3		XM_117174		30	48	0	0	0	0.013726	0	30	48		
ORC1	4998	broad.mit.edu	37	1	52861995	52861995	+	Silent	SNP	C	C	T	rs570939314		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:52861995C>T	ENST00000371568.3	-	5	662	c.444G>A	c.(442-444)ctG>ctA	p.L148L	ORC1_ENST00000371566.1_Silent_p.L148L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	148	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTCATTTTTCAGATTCGTCG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		18606	0.0		0.0	False		,,,				2504	0.001					uc001ctt.2		NaN																	0					0						c.(442-444)CTG>CTA		origin recognition complex, subunit 1							134.0	126.0	129.0					1																	52861995		2203	4300	6503	SO:0001819	synonymous_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52861995C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.444G>A	1.37:g.52861995C>T						ORC1L_uc010oni.1_Silent_p.L148L|ORC1L_uc001ctu.2_Silent_p.L148L|ORC1L_uc009vzd.2_5'UTR	p.L148L	NM_004153	NP_004144	Q13415	ORC1_HUMAN			5	663	-			148			BAH.		D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	c.444G>A	CCDS566.1																																																																																				0.418	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1		NM_004153		63	77	0	0	0	0.01441	0	63	77		
LEPR	3953	broad.mit.edu	37	1	66083712	66083712	+	Missense_Mutation	SNP	C	C	G	rs200160154		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:66083712C>G	ENST00000349533.6	+	16	2463	c.2278C>G	c.(2278-2280)Cta>Gta	p.L760V	LEPR_ENST00000371058.1_Missense_Mutation_p.L760V|LEPR_ENST00000344610.8_Missense_Mutation_p.L760V|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.L760V|LEPR_ENST00000371059.3_Missense_Mutation_p.L760V	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCCTGGATACTATCACCCAG	0.318																																						uc001dci.2		NaN																	0				skin(1)	1						c.(2278-2280)CTA>GTA		leptin receptor isoform 1							95.0	93.0	94.0					1																	66083712		2203	4298	6501	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66083712C>G	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2278C>G	1.37:g.66083712C>G	ENSP00000330393:p.Leu760Val					LEPR_uc001dcg.2_Missense_Mutation_p.L760V|LEPR_uc001dch.2_Missense_Mutation_p.L760V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.L760V|LEPR_uc001dck.2_Missense_Mutation_p.L760V	p.L760V	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	16	2480	+			760			Extracellular (Potential).|Fibronectin type-III 4.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2278C>G	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	7.227	0.598603	0.13939	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.72	0.354	0.16063	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.293325	0.33253	N	0.005106	T	0.29491	0.0735	M	0.78801	2.425	0.18873	N	0.999984	B;B;B	0.26672	0.156;0.152;0.063	B;B;B	0.31751	0.043;0.135;0.046	T	0.29488	-1.0010	10	0.48119	T	0.1	-5.3353	3.4909	0.07637	0.2027:0.4707:0.2019:0.1248	.	760;760;760	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	V	760	ENSP00000340884:L760V;ENSP00000330393:L760V;ENSP00000360099:L760V;ENSP00000360098:L760V;ENSP00000360097:L760V	ENSP00000340884:L760V	L	+	1	2	LEPR	65856300	0.020000	0.18652	0.002000	0.10522	0.358000	0.29455	0.527000	0.22987	0.353000	0.24079	-0.133000	0.14855	CTA		0.318	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1		NM_002303		13	55	0	0	0	0.013537	0	13	55		
ST6GALNAC5	81849	broad.mit.edu	37	1	77516012	77516012	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:77516012G>C	ENST00000477717.1	+	4	976	c.741G>C	c.(739-741)agG>agC	p.R247S		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	247					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TCTGTGACAGGATCAATGTTT	0.433																																						uc001dhi.2		NaN																	0				pancreas(1)|skin(1)	2						c.(739-741)AGG>AGC		sialyltransferase 7E							169.0	164.0	166.0					1																	77516012		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77516012G>C		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.741G>C	1.37:g.77516012G>C	ENSP00000417583:p.Arg247Ser					ST6GALNAC5_uc010ori.1_3'UTR|ST6GALNAC5_uc009wbw.2_RNA	p.R247S	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			4	916	+			247			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.741G>C	CCDS673.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502713	0.64298	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.28895	1.59	6.17	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.61218	1.895	0.80722	D	1	P	0.37370	0.592	P	0.45276	0.475	T	0.02683	-1.1124	10	0.36615	T	0.2	-24.7162	11.5022	0.50444	0.2393:0.0:0.7607:0.0	.	247	Q9BVH7	SIA7E_HUMAN	S	247;157	ENSP00000417583:R247S	ENSP00000406658:R157S	R	+	3	2	ST6GALNAC5	77288600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.567000	0.45956	0.497000	0.27926	0.655000	0.94253	AGG		0.433	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2		NM_030965		40	82	0	0	0	0.006999	0	40	82		
PIGK	10026	broad.mit.edu	37	1	77629564	77629564	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:77629564G>A	ENST00000370812.3	-	6	574	c.551C>T	c.(550-552)gCg>gTg	p.A184V	PIGK_ENST00000445065.1_Missense_Mutation_p.A90V|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Missense_Mutation_p.A184V|PIGK_ENST00000370813.5_Missense_Mutation_p.A108V	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	184					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AAAAGCATCCGCGAGTTCTAT	0.308																																						uc001dhk.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(550-552)GCG>GTG		phosphatidylinositol glycan anchor biosynthesis,							86.0	85.0	85.0					1																	77629564		2203	4296	6499	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77629564G>A	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.551C>T	1.37:g.77629564G>A	ENSP00000359848:p.Ala184Val					PIGK_uc010orj.1_Missense_Mutation_p.A108V|PIGK_uc009wbx.2_Missense_Mutation_p.A90V|PIGK_uc001dhl.1_Missense_Mutation_p.A184V	p.A184V	NM_005482	NP_005473	Q92643	GPI8_HUMAN			6	596	-			184			Lumenal (Potential).		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.551C>T	CCDS674.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400643	0.96030	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.991;0.998	D;D;P;P	0.87578	0.998;0.998;0.727;0.875	T	0.65294	-0.6203	10	0.39692	T	0.17	-29.5065	19.7592	0.96308	0.0:0.0:1.0:0.0	.	108;90;184;184	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	V	184;90;108;184	ENSP00000359848:A184V;ENSP00000388854:A90V;ENSP00000359849:A108V;ENSP00000352041:A184V	ENSP00000352041:A184V	A	-	2	0	PIGK	77402152	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.798000	0.91888	2.736000	0.93811	0.650000	0.86243	GCG		0.308	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1		NM_005482		15	40	0	0	0	0.00499	0	15	40		
RBM15	64783	broad.mit.edu	37	1	110882503	110882503	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:110882503C>G	ENST00000369784.3	+	1	1376	c.476C>G	c.(475-477)tCa>tGa	p.S159*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.S159*|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Nonsense_Mutation_p.S159*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	159	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCGCCTCCTCAGCTCCCGGC	0.642			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dzl.1		NaN		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(475-477)TCA>TGA		RNA binding motif protein 15							28.0	35.0	33.0					1																	110882503		2202	4300	6502	SO:0001587	stop_gained	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882503C>G	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.476C>G	1.37:g.110882503C>G	ENSP00000358799:p.Ser159*		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_uc001dzm.1_Nonsense_Mutation_p.S159*|uc001dzj.2_5'Flank	p.S159*	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	559	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	159			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Nonsense_Mutation	SNP	ENST00000369784.3	37	c.476C>G	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	46	12.330554	0.99658	.	.	ENSG00000162775	ENST00000369784	.	.	.	5.21	5.21	0.72293	.	0.000000	0.34435	N	0.003963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.7888	16.6819	0.85294	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000358799:S159X	S	+	2	0	RBM15	110684026	0.943000	0.32029	1.000000	0.80357	0.962000	0.63368	1.942000	0.40243	2.706000	0.92434	0.655000	0.94253	TCA		0.642	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768		20	32	0	0	0	0.010504	0	20	32		
OVGP1	5016	broad.mit.edu	37	1	111957832	111957832	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:111957832C>A	ENST00000369732.3	-	11	1346	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	431					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCAGTGACCCCAGCCTCTCCT	0.498																																						uc001eba.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(1291-1293)GGG>TGG		oviductal glycoprotein 1 precursor							78.0	78.0	78.0					1																	111957832		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957832C>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1291G>T	1.37:g.111957832C>A	ENSP00000358747:p.Gly431Trp					OVGP1_uc001eaz.2_Missense_Mutation_p.G393W|OVGP1_uc010owb.1_Missense_Mutation_p.G79W	p.G431W	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1347	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	431					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1291G>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467847	0.26335	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04156	3.69	4.43	-8.86	0.00795	.	3.050000	0.02564	U	0.097078	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	1	P;D	0.56287	0.923;0.975	B;P	0.49192	0.221;0.602	T	0.32455	-0.9906	10	0.66056	D	0.02	1.4992	7.2973	0.26401	0.1157:0.5748:0.1178:0.1916	.	431;495	Q12889;Q59HH5	OVGP1_HUMAN;.	W	431;495;239	ENSP00000358747:G431W	ENSP00000358743:G495W	G	-	1	0	OVGP1	111759355	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.544000	0.00218	-2.247000	0.00703	-1.105000	0.02106	GGG		0.498	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1		NM_002557		15	77	1	0	2.23348e-06	0.004007	2.35718e-06	15	77		
HIST2H2AB	317772	broad.mit.edu	37	1	149859361	149859361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:149859361G>C	ENST00000331128.3	-	1	105	c.106C>G	c.(106-108)Cgc>Ggc	p.R36G	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	36						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTGCCTTTGCGCAGCAAGCGG	0.697																																						uc001ete.2		NaN																	0				ovary(1)|breast(1)	2						c.(106-108)CGC>GGC		histone cluster 2, H2ab							45.0	52.0	50.0					1																	149859361		2202	4298	6500	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859361G>C	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.106C>G	1.37:g.149859361G>C	ENSP00000332790:p.Arg36Gly					HIST2H2BE_uc001etc.2_5'Flank	p.R36G	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	106	-	Breast(34;0.0124)|all_hematologic(923;0.127)		36						Missense_Mutation	SNP	ENST00000331128.3	37	c.106C>G	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454296	0.63290	.	.	ENSG00000184270	ENST00000331128	T	0.51817	0.69	5.27	5.27	0.74061	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	H	0.94542	3.55	0.58432	D	0.999998	P	0.50156	0.932	P	0.52481	0.7	T	0.77027	-0.2740	10	0.87932	D	0	.	16.7454	0.85470	0.0:0.0:1.0:0.0	.	36	Q8IUE6	H2A2B_HUMAN	G	36	ENSP00000332790:R36G	ENSP00000332790:R36G	R	-	1	0	HIST2H2AB	148125985	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.974000	0.56852	2.621000	0.88768	0.655000	0.94253	CGC		0.697	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1		NM_175065		20	99	0	0	0	0.007413	0	20	99		
CGN	57530	broad.mit.edu	37	1	151491799	151491799	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:151491799G>A	ENST00000271636.7	+	2	937	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	262	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCTCGTCAGACTCAGGACT	0.567																																						uc009wmw.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(802-804)CAG>CAA		cingulin							43.0	46.0	45.0					1																	151491799		2203	4300	6503	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491799G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.804G>A	1.37:g.151491799G>A							p.Q268Q	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	948	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		262			Interacts with ZO-2.|Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.804G>A	CCDS999.1																																																																																				0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3		NM_020770		13	31	0	0	0	0.013537	0	13	31		
TCHH	7062	broad.mit.edu	37	1	152080319	152080319	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:152080319C>G	ENST00000368804.1	-	2	5373	c.5374G>C	c.(5374-5376)Gag>Cag	p.E1792Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1792	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCAGACTCTTGGCTGCGC	0.602																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5374-5376)GAG>CAG		trichohyalin							74.0	75.0	75.0					1																	152080319		1936	4144	6080	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080319C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5374G>C	1.37:g.152080319C>G	ENSP00000357794:p.Glu1792Gln					TCHH_uc009wne.1_Missense_Mutation_p.E1792Q	p.E1792Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5374	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1792			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5374G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837239	0.16891	.	.	ENSG00000159450	ENST00000368804	T	0.13901	2.55	3.97	1.81	0.25067	.	.	.	.	.	T	0.03695	0.0105	L	0.52266	1.64	0.09310	N	1	B	0.29862	0.259	B	0.25759	0.063	T	0.41484	-0.9506	9	0.26408	T	0.33	-1.2341	7.0471	0.25052	0.0:0.4637:0.4314:0.1049	.	1792	Q07283	TRHY_HUMAN	Q	1792	ENSP00000357794:E1792Q	ENSP00000357794:E1792Q	E	-	1	0	TCHH	150346943	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-0.279000	0.08479	0.232000	0.21100	0.467000	0.42956	GAG		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		25	75	0	0	0	0.021523	0	25	75		
TCHH	7062	broad.mit.edu	37	1	152080442	152080442	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:152080442C>G	ENST00000368804.1	-	2	5250	c.5251G>C	c.(5251-5253)Gag>Cag	p.E1751Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1751	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E1751K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCTTCCTCTAGGATTTTT	0.592																																						uc001ezp.2		NaN																	1	Substitution - Missense(1)		NS(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5251-5253)GAG>CAG		trichohyalin							46.0	46.0	46.0					1																	152080442		1901	4118	6019	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080442C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5251G>C	1.37:g.152080442C>G	ENSP00000357794:p.Glu1751Gln					TCHH_uc009wne.1_Missense_Mutation_p.E1751Q	p.E1751Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5251	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1751			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5251G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	9.754	1.168325	0.21621	.	.	ENSG00000159450	ENST00000368804	T	0.06371	3.31	3.77	3.77	0.43336	.	.	.	.	.	T	0.08980	0.0222	L	0.59436	1.845	0.09310	N	1	D	0.69078	0.997	D	0.63488	0.915	T	0.18935	-1.0321	9	0.26408	T	0.33	-0.4075	13.1243	0.59344	0.0:1.0:0.0:0.0	.	1751	Q07283	TRHY_HUMAN	Q	1751	ENSP00000357794:E1751Q	ENSP00000357794:E1751Q	E	-	1	0	TCHH	150347066	0.014000	0.17966	0.006000	0.13384	0.001000	0.01503	1.486000	0.35530	1.943000	0.56356	0.313000	0.20887	GAG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		23	69	0	0	0	0.014323	0	23	69		
SHE	126669	broad.mit.edu	37	1	154471660	154471660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:154471660G>A	ENST00000304760.2	-	2	732	c.646C>T	c.(646-648)Caa>Taa	p.Q216*		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	216										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCATCCCTTTGACCCTTTGTC	0.453																																						uc001ffb.2		NaN																	0				breast(3)|ovary(2)|central_nervous_system(1)	6						c.(646-648)CAA>TAA		Src homology 2 domain containing E							212.0	167.0	182.0					1																	154471660		2203	4300	6503	SO:0001587	stop_gained	126669							g.chr1:154471660G>A	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.646C>T	1.37:g.154471660G>A	ENSP00000307369:p.Gln216*					SHE_uc001ffc.2_RNA	p.Q216*	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	733	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		216					Q8TEQ5	Nonsense_Mutation	SNP	ENST00000304760.2	37	c.646C>T	CCDS30877.1	.	.	.	.	.	.	.	.	.	.	G	37	6.569571	0.97671	.	.	ENSG00000169291	ENST00000304760	.	.	.	5.02	5.02	0.67125	.	0.065401	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-19.2139	17.0874	0.86614	0.0:0.0:1.0:0.0	.	.	.	.	X	216	.	ENSP00000307369:Q216X	Q	-	1	0	SHE	152738284	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.879000	0.69690	2.597000	0.87782	0.655000	0.94253	CAA		0.453	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2		NM_001010846		26	62	0	0	0	0.01892	0	26	62		
FCRL3	115352	broad.mit.edu	37	1	157650526	157650526	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:157650526C>T	ENST00000368184.3	-	13	2283	c.1992G>A	c.(1990-1992)caG>caA	p.Q664Q	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.Q664Q	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	664						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGCTCCAGATCTGGGAATAAA	0.433																																						uc001frb.2		NaN																	0				ovary(3)|breast(1)	4						c.(1990-1992)CAG>CAA		Fc receptor-like 3 precursor							148.0	144.0	146.0					1																	157650526		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157650526C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1992G>A	1.37:g.157650526C>T						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.Q664Q|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.Q390Q|FCRL3_uc001frc.1_Silent_p.Q664Q	p.Q664Q	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			13	2284	-	all_hematologic(112;0.0378)		664			ITIM motif 2.|Cytoplasmic (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1992G>A	CCDS1167.1																																																																																				0.433	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2		NM_052939		31	53	0	0	0	0.019004	0	31	53		
CD244	51744	broad.mit.edu	37	1	160808273	160808273	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:160808273C>G	ENST00000368033.3	-	5	899	c.817G>C	c.(817-819)Gat>Cat	p.D273H	CD244_ENST00000368032.2_Missense_Mutation_p.D268H|CD244_ENST00000322302.7_Missense_Mutation_p.D176H|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368034.4_Missense_Mutation_p.D268H			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	273					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCTTGACATCTTCGTAAATT	0.453																																						uc009wtq.2		NaN																	0				ovary(1)	1						c.(817-819)GAT>CAT		CD244 natural killer cell receptor 2B4							148.0	148.0	148.0					1																	160808273		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160808273C>G	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.817G>C	1.37:g.160808273C>G	ENSP00000357012:p.Asp273His					CD244_uc001fxa.2_Missense_Mutation_p.D268H|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.D176H	p.D273H	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	995	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		273			Cytoplasmic (Potential).		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.817G>C	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760530	0.31137	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.38560	1.13;1.13;1.42;1.13	4.61	2.66	0.31614	.	2.361070	0.01561	N	0.020119	T	0.28067	0.0692	L	0.27053	0.805	0.22896	N	0.998598	D;P;D	0.62365	0.991;0.8;0.982	P;B;P	0.58873	0.847;0.341;0.621	T	0.17258	-1.0375	10	0.38643	T	0.18	-29.9935	4.823	0.13400	0.2241:0.667:0.0:0.1089	.	176;273;268	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	H	268;273;176;268	ENSP00000357013:D268H;ENSP00000357012:D273H;ENSP00000313619:D176H;ENSP00000357011:D268H	ENSP00000313619:D176H	D	-	1	0	CD244	159074897	0.105000	0.21958	0.970000	0.41538	0.161000	0.22273	-0.148000	0.10219	1.228000	0.43614	0.655000	0.94253	GAT		0.453	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1		NM_016382		140	80	0	0	0	0.01441	0	140	80		
DEDD	9191	broad.mit.edu	37	1	161094073	161094073	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:161094073G>A	ENST00000368006.3	-	3	394	c.180C>T	c.(178-180)ctC>ctT	p.L60L	DEDD_ENST00000545495.1_Silent_p.L60L|DEDD_ENST00000392188.1_Silent_p.L60L|DEDD_ENST00000489249.1_Intron|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000458050.2_Silent_p.L60L|DEDD_ENST00000490843.2_Silent_p.L60L|DEDD_ENST00000368005.1_Silent_p.L60L	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	60	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CATTTCGGATGAGTCCACGCT	0.527																																						uc001fxz.2		NaN																	0					0						c.(178-180)CTC>CTT		death effector domain-containing protein							97.0	84.0	88.0					1																	161094073		2203	4300	6503	SO:0001819	synonymous_variant	9191				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161094073G>A	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.180C>T	1.37:g.161094073G>A						NIT1_uc001fxw.2_3'UTR|DEDD_uc009wty.2_Silent_p.L60L|DEDD_uc001fya.2_Silent_p.L60L|DEDD_uc001fyb.2_Silent_p.L60L|DEDD_uc010pkb.1_Intron|DEDD_uc001fyc.2_Intron	p.L60L	NM_001039712	NP_001034801	O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	353	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		60			DED.		D3DVF5|O60737	Silent	SNP	ENST00000368006.3	37	c.180C>T	CCDS1219.1																																																																																				0.527	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1		NM_004216		64	29	0	0	0	0.01441	0	64	29		
APOA2	336	broad.mit.edu	37	1	161193191	161193191	+	Start_Codon_SNP	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:161193191T>C	ENST00000367990.3	-	2	58	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	APOA2_ENST00000468465.1_5'UTR|APOA2_ENST00000470459.2_Start_Codon_SNP_p.M1V|TOMM40L_ENST00000367988.3_5'Flank|TOMM40L_ENST00000545897.1_5'Flank|APOA2_ENST00000463812.1_Intron|APOA2_ENST00000464492.1_Missense_Mutation_p.M34V|TOMM40L_ENST00000367987.1_5'Flank|APOA2_ENST00000491350.1_Start_Codon_SNP_p.M1V	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	1					acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCAGCTTCATGTTGGTAACA	0.582																																						uc001fzc.1		NaN																	0				skin(1)	1						c.(1-3)ATG>GTG		apolipoprotein A-II preproprotein							97.0	79.0	85.0					1																	161193191		2203	4300	6503	SO:0001582	initiator_codon_variant	336				cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr1:161193191T>C		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.1A>G	1.37:g.161193191T>C	ENSP00000356969:p.Met1Val					APOA2_uc001fzb.1_RNA|TOMM40L_uc010pkk.1_5'Flank|TOMM40L_uc010pkl.1_5'Flank|TOMM40L_uc001fzd.2_5'Flank|TOMM40L_uc009wue.2_5'Flank|TOMM40L_uc009wuf.1_5'Flank|TOMM40L_uc001fze.2_5'Flank	p.M1V	NM_001643	NP_001634	P02652	APOA2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	59	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		1					B2R524	Missense_Mutation	SNP	ENST00000367990.3	37	c.1A>G	CCDS1226.1	.	.	.	.	.	.	.	.	.	.	T	9.874	1.199711	0.22121	.	.	ENSG00000158874	ENST00000367990	.	.	.	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000003	T	0.66076	0.2753	.	.	.	0.80722	A	1.000000	D	0.63880	0.993	D	0.68192	0.956	T	0.73078	-0.4096	7	0.87932	D	0	-28.4461	10.9475	0.47310	0.0:0.0:0.0:1.0	.	1	P02652	APOA2_HUMAN	V	1	.	ENSP00000356969:M1V	M	-	1	0	APOA2	159459815	1.000000	0.71417	0.989000	0.46669	0.066000	0.16364	3.432000	0.52824	2.152000	0.67230	0.533000	0.62120	ATG		0.582	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1		NM_001643	Missense_Mutation	8	40	0	0	0	0.004482	0	8	40		
PBX1	5087	broad.mit.edu	37	1	164769086	164769086	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:164769086G>A	ENST00000420696.2	+	4	849	c.661G>A	c.(661-663)Gag>Aag	p.E221K	PBX1_ENST00000401534.1_Missense_Mutation_p.E221K|PBX1_ENST00000540246.1_Missense_Mutation_p.E116K|PBX1_ENST00000559240.1_Missense_Mutation_p.E221K|PBX1_ENST00000560641.1_Missense_Mutation_p.E116K|PBX1_ENST00000367897.1_Missense_Mutation_p.E221K|PBX1_ENST00000540236.1_Missense_Mutation_p.E221K	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	221					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GAGCACGTGCGAGGCGGTGAT	0.612			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2		NaN		Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	0				soft_tissue(3)|lung(1)|skin(1)	5						c.(661-663)GAG>AAG		pre-B-cell leukemia homeobox 1							124.0	98.0	107.0					1																	164769086		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164769086G>A	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.661G>A	1.37:g.164769086G>A	ENSP00000405890:p.Glu221Lys					PBX1_uc010pku.1_Missense_Mutation_p.E221K|PBX1_uc010pkv.1_Missense_Mutation_p.E138K|PBX1_uc001gcs.2_Missense_Mutation_p.E221K|PBX1_uc010pkw.1_Missense_Mutation_p.E111K	p.E221K	NM_002585	NP_002576	P40424	PBX1_HUMAN			4	919	+			221					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.661G>A	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	36	5.928155	0.97116	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.64	5.64	0.86602	PBX (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	M	0.87758	2.905	.	.	.	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.984;0.997;0.987;0.998;0.997	T	0.75288	-0.3370	9	0.72032	D	0.01	-19.0212	19.3125	0.94195	0.0:0.0:1.0:0.0	.	116;221;221;221;221	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	K	221;221;221;221;116	ENSP00000405890:E221K;ENSP00000356872:E221K;ENSP00000439943:E221K;ENSP00000384856:E221K;ENSP00000440869:E116K	ENSP00000356872:E221K	E	+	1	0	PBX1	163035710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.338000	0.96553	2.653000	0.90120	0.655000	0.94253	GAG		0.612	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4		NM_002585		8	112	0	0	0	0.004482	0	8	112		
PAPPA2	60676	broad.mit.edu	37	1	176564283	176564283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:176564283G>T	ENST00000367662.3	+	3	2707	c.1543G>T	c.(1543-1545)Gga>Tga	p.G515*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.G515*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	515	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGTACAATGGATACTGGCC	0.537																																						uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1543-1545)GGA>TGA		pappalysin 2 isoform 1							55.0	55.0	55.0					1																	176564283		1985	4171	6156	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564283G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1543G>T	1.37:g.176564283G>T	ENSP00000356634:p.Gly515*					PAPPA2_uc001gky.1_Nonsense_Mutation_p.G515*|PAPPA2_uc009www.2_RNA	p.G515*	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2707	+			515			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.1543G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	43	10.306516	0.99380	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	.	.	.	5.24	-5.36	0.02689	.	0.970914	0.08555	N	0.928370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	1.803	1.3609	0.02191	0.4183:0.251:0.1388:0.192	.	.	.	.	X	515	.	ENSP00000356633:G515X	G	+	1	0	PAPPA2	174830906	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.723000	0.01866	-0.592000	0.05851	-0.133000	0.14855	GGA		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				13	118	1	0	5.50884e-06	0.013537	5.74326e-06	13	118		
PAPPA2	60676	broad.mit.edu	37	1	176659424	176659424	+	Silent	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:176659424A>G	ENST00000367662.3	+	5	3453	c.2289A>G	c.(2287-2289)ccA>ccG	p.P763P	PAPPA2_ENST00000367661.3_Silent_p.P763P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	763					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGACAGTGCCATCCATGGAAA	0.552																																						uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2287-2289)CCA>CCG		pappalysin 2 isoform 1							119.0	124.0	122.0					1																	176659424		2037	4210	6247	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659424A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2289A>G	1.37:g.176659424A>G						PAPPA2_uc001gky.1_Silent_p.P763P|PAPPA2_uc009www.2_RNA	p.P763P	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			5	3453	+			763					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2289A>G	CCDS41438.1																																																																																				0.552	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				19	339	0	0	0	0.008871	0	19	339		
ZBTB41	360023	broad.mit.edu	37	1	197160945	197160945	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:197160945G>C	ENST00000367405.4	-	2	1273	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGTTAGGTTAGACTTTGTTGA	0.383																																						uc001gtx.1		NaN																	0				ovary(1)|skin(1)	2						c.(1204-1206)TCT>TGT		zinc finger and BTB domain containing 41							100.0	90.0	94.0					1																	197160945		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197160945G>C		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1205C>G	1.37:g.197160945G>C	ENSP00000356375:p.Ser402Cys					ZBTB41_uc009wyz.1_RNA	p.S402C	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			2	1274	-			402			C2H2-type 3.		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1205C>G	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404204	0.83230	.	.	ENSG00000177888	ENST00000367405	T	0.02085	4.46	5.89	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.346876	0.20336	U	0.094336	T	0.13457	0.0326	M	0.84433	2.695	0.58432	D	0.999999	D	0.71674	0.998	P	0.61397	0.888	T	0.00958	-1.1500	10	0.72032	D	0.01	.	16.4705	0.84111	0.0:0.0:0.8678:0.1322	.	402	Q5SVQ8	ZBT41_HUMAN	C	402	ENSP00000356375:S402C	ENSP00000356375:S402C	S	-	2	0	ZBTB41	195427568	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.522000	0.81844	1.474000	0.48178	0.650000	0.86243	TCT		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2		NM_194314		10	28	0	0	0	0.006214	0	10	28		
KDM5B	10765	broad.mit.edu	37	1	202702685	202702685	+	Silent	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:202702685T>A	ENST00000367265.3	-	23	4917	c.3753A>T	c.(3751-3753)gcA>gcT	p.A1251A	KDM5B_ENST00000367264.2_Silent_p.A1287A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1251					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TATATCGAAGTGCATCTCCCT	0.512																																						uc001gyf.2		NaN																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(3751-3753)GCA>GCT		jumonji, AT rich interactive domain 1B							98.0	96.0	96.0					1																	202702685		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202702685T>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3753A>T	1.37:g.202702685T>A						KDM5B_uc009xag.2_Silent_p.A1287A|KDM5B_uc001gyg.1_Silent_p.A1093A	p.A1251A	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			23	3869	-			1251					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.3753A>T	CCDS30974.1																																																																																				0.512	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618		14	57	0	0	0	0.016723	0	14	57		
CUBN	8029	broad.mit.edu	37	10	16990556	16990556	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:16990556G>A	ENST00000377833.4	-	35	5195	c.5130C>T	c.(5128-5130)agC>agT	p.S1710S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1710	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCGTCAGGGCGCTGCTGAAGG	0.512																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(5128-5130)AGC>AGT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						97.0	84.0	88.0					10																	16990556		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16990556G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5130C>T	10.37:g.16990556G>A							p.S1710S	NM_001081	NP_001072	O60494	CUBN_HUMAN			35	5182	-			1710			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.5130C>T	CCDS7113.1																																																																																				0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		15	25	0	0	0	0.020292	0	15	25		
ZNF33B	7582	broad.mit.edu	37	10	43088096	43088096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:43088096G>A	ENST00000359467.3	-	5	2416	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	768					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(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGTGTTCTCTGATGTACAATG	0.398																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NaN																	0					0						c.(2302-2304)CAG>TAG		zinc finger protein 33B							134.0	128.0	130.0					10																	43088096		2203	4300	6503	SO:0001587	stop_gained	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088096G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2302C>T	10.37:g.43088096G>A	ENSP00000352444:p.Gln768*					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.Q656*|ZNF33B_uc001jad.2_Intron	p.Q768*	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	2417	-			768			C2H2-type 16.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	c.2302C>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	37	6.389509	0.97529	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.5	2.5	0.30297	.	0.000000	0.32416	N	0.006130	.	.	.	.	.	.	0.38785	D	0.954855	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.4133	0.27029	0.0:0.2724:0.7276:0.0	.	.	.	.	X	768;734	.	ENSP00000352444:Q768X	Q	-	1	0	ZNF33B	42408102	0.003000	0.15002	1.000000	0.80357	0.978000	0.69477	-0.119000	0.10676	1.707000	0.51288	0.409000	0.27619	CAG		0.398	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_006955		26	175	0	0	0	0.021523	0	26	175		
CSTF2T	23283	broad.mit.edu	37	10	53457995	53457995	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:53457995C>G	ENST00000331173.4	-	1	1360	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	439	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GCACAGGTCTCCATTCCTCTC	0.537																																						uc001jjp.2		NaN																	0				ovary(1)	1						c.(1315-1317)GAG>CAG		cleavage stimulation factor, 3' pre-RNA, subunit							201.0	180.0	187.0					10																	53457995		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457995C>G	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1315G>C	10.37:g.53457995C>G	ENSP00000332444:p.Glu439Gln					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.E439Q	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1361	-			439			9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.|1-5; approximate.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1315G>C	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024021	0.54683	.	.	ENSG00000177613	ENST00000331173	T	0.24723	1.84	5.22	5.22	0.72569	.	0.341423	0.27147	N	0.020701	T	0.16938	0.0407	N	0.19112	0.55	0.33296	D	0.564129	P	0.51653	0.947	B	0.41917	0.37	T	0.08351	-1.0726	10	0.30078	T	0.28	-14.6397	12.2344	0.54508	0.0:0.8291:0.1709:0.0	.	439	Q9H0L4	CSTFT_HUMAN	Q	439	ENSP00000332444:E439Q	ENSP00000332444:E439Q	E	-	1	0	CSTF2T	53128001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.014000	0.49590	2.894000	0.99253	0.655000	0.94253	GAG		0.537	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1		NM_015235		19	66	0	0	0	0.007413	0	19	66		
FAM13C	220965	broad.mit.edu	37	10	61028376	61028376	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:61028376G>A	ENST00000373868.2	-	8	966	c.879C>T	c.(877-879)atC>atT	p.I293I	FAM13C_ENST00000435852.2_Silent_p.I293I|FAM13C_ENST00000419214.2_Silent_p.I293I|FAM13C_ENST00000422313.2_Silent_p.I293I|FAM13C_ENST00000468840.2_Silent_p.I210I|FAM13C_ENST00000373867.3_Silent_p.I210I|FAM13C_ENST00000277705.6_Silent_p.I314I|FAM13C_ENST00000442566.3_Silent_p.I314I	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	293										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGAGGCTCTGGATGTGCTTGG	0.498																																						uc001jkn.2		NaN																	0				ovary(2)	2						c.(877-879)ATC>ATT		hypothetical protein LOC220965 isoform 1							66.0	65.0	65.0					10																	61028376		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61028376G>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.879C>T	10.37:g.61028376G>A						FAM13C_uc001jko.2_Silent_p.I293I|FAM13C_uc010qid.1_Silent_p.I210I|FAM13C_uc010qie.1_Silent_p.I210I|FAM13C_uc010qif.1_Silent_p.I315I|FAM13C_uc001jkp.2_Silent_p.I210I	p.I293I	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			9	1013	-			293					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.879C>T	CCDS7255.1																																																																																				0.498	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2				11	24	0	0	0	0.008291	0	11	24		
PBLD	64081	broad.mit.edu	37	10	70048284	70048284	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:70048284C>G	ENST00000358769.2	-	8	849	c.647G>C	c.(646-648)aGa>aCa	p.R216T	PBLD_ENST00000495025.2_Missense_Mutation_p.R216T|PBLD_ENST00000336578.1_Missense_Mutation_p.R183T|PBLD_ENST00000309049.4_Missense_Mutation_p.R216T|PBLD_ENST00000432941.1_Missense_Mutation_p.R216T	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	216					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCAAAATATCTTGAGTAAAA	0.468																																						uc001jns.1		NaN																	0				skin(2)|ovary(1)	3						c.(646-648)AGA>ACA		MAWD binding protein isoform a							87.0	87.0	87.0					10																	70048284		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70048284C>G	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.647G>C	10.37:g.70048284C>G	ENSP00000351619:p.Arg216Thr					PBLD_uc001jnr.1_Missense_Mutation_p.R183T|PBLD_uc001jnt.1_Missense_Mutation_p.R216T|PBLD_uc001jnu.1_Missense_Mutation_p.R216T|PBLD_uc001jnv.1_3'UTR	p.R216T	NM_022129	NP_071412	P30039	PBLD_HUMAN			8	850	-			216					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.647G>C	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296074	0.81025	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.01	5.01	0.66863	.	0.118400	0.52532	D	0.000064	D	0.90407	0.6997	H	0.98466	4.24	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94019	0.7291	10	0.87932	D	0	-22.1293	16.488	0.84190	0.0:1.0:0.0:0.0	.	216;216	C9JIM0;P30039	.;PBLD_HUMAN	T	183;216;216;216	ENSP00000338041:R183T;ENSP00000351619:R216T;ENSP00000308466:R216T;ENSP00000395534:R216T	ENSP00000308466:R216T	R	-	2	0	PBLD	69718290	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.638000	0.67861	2.502000	0.84385	0.563000	0.77884	AGA		0.468	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1		NM_022129		16	50	0	0	0	0.003163	0	16	50		
ZMIZ1	57178	broad.mit.edu	37	10	81063832	81063832	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:81063832A>C	ENST00000334512.5	+	19	2758	c.2186A>C	c.(2185-2187)gAt>gCt	p.D729A	ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	729					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AACGGGGAGGATGGGGTGGAG	0.617																																						uc001kaf.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(2185-2187)GAT>GCT		retinoic acid induced 17							78.0	59.0	65.0					10																	81063832		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81063832A>C	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2186A>C	10.37:g.81063832A>C	ENSP00000334474:p.Asp729Ala					ZMIZ1_uc001kag.2_Missense_Mutation_p.D605A|ZMIZ1_uc010qlq.1_5'Flank	p.D729A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		19	2758	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		729			SP-RING-type.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2186A>C	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905362	0.72868	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.37411	1.2	5.4	5.4	0.78164	Zinc finger, MIZ-type (1);	0.000000	0.42682	D	0.000678	T	0.39682	0.1087	M	0.63843	1.955	0.80722	D	1	B	0.24483	0.104	B	0.26202	0.067	T	0.23261	-1.0193	10	0.45353	T	0.12	-14.4555	15.4304	0.75092	1.0:0.0:0.0:0.0	.	729	Q9ULJ6	ZMIZ1_HUMAN	A	729;659;633	ENSP00000334474:D729A	ENSP00000334474:D729A	D	+	2	0	ZMIZ1	80733838	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	8.930000	0.92872	2.052000	0.61016	0.459000	0.35465	GAT		0.617	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2		NM_020338		10	36	0	0	0	0.006214	0	10	36		
CDHR1	92211	broad.mit.edu	37	10	85973956	85973956	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:85973956C>G	ENST00000372117.3	+	17	2262	c.2159C>G	c.(2158-2160)tCc>tGc	p.S720C	CDHR1_ENST00000440770.2_Missense_Mutation_p.S424C|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	720					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCCTCATCTCCACCGCCACC	0.637																																						uc001kcv.2		NaN																	0				ovary(1)	1						c.(2158-2160)TCC>TGC		protocadherin 21 precursor							66.0	71.0	69.0					10																	85973956		2203	4299	6502	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973956C>G	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2159C>G	10.37:g.85973956C>G	ENSP00000361189:p.Ser720Cys					CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.S424C|CDHR1_uc001kcx.2_Missense_Mutation_p.S34C	p.S720C	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			17	2159	+			720			Helical; (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2159C>G	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574923	0.86542	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.58940	0.54;0.3	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.77702	-0.2489	10	0.54805	T	0.06	-22.257	18.2273	0.89921	0.0:1.0:0.0:0.0	.	424;720	E7EN47;Q96JP9	.;CDHR1_HUMAN	C	720;424	ENSP00000361189:S720C;ENSP00000415980:S424C	ENSP00000361189:S720C	S	+	2	0	CDHR1	85963936	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.487000	0.81328	2.596000	0.87737	0.561000	0.74099	TCC		0.637	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1		NM_033100		18	59	0	0	0	0.006122	0	18	59		
IFIT3	3437	broad.mit.edu	37	10	91099693	91099693	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:91099693G>A	ENST00000371818.4	+	2	1461	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.Q427Q	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	427					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TTCATAAGCAGAATGGAGATC	0.433																																						uc001kgf.2		NaN																	0				central_nervous_system(1)	1						c.(1279-1281)CAG>CAA		interferon-induced protein with							68.0	70.0	69.0					10																	91099693		2203	4300	6503	SO:0001819	synonymous_variant	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099693G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1281G>A	10.37:g.91099693G>A						LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Silent_p.Q427Q	p.Q427Q	NM_001549	NP_001540	O14879	IFIT3_HUMAN			2	1510	+			427			TPR 7.		Q99634|Q9BSK7	Silent	SNP	ENST00000371818.4	37	c.1281G>A	CCDS7402.1																																																																																				0.433	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1		NM_001549		8	51	0	0	0	0.00308	0	8	51		
C10orf76	79591	broad.mit.edu	37	10	103649229	103649229	+	Silent	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:103649229A>G	ENST00000370033.4	-	24	1919	c.1800T>C	c.(1798-1800)ttT>ttC	p.F600F	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	600						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTTTGGGGTTAAAGTGGTTGA	0.428																																						uc009xwy.1		NaN																	0					0						c.(1798-1800)TTT>TTC		hypothetical protein LOC79591							286.0	287.0	287.0					10																	103649229		1965	4157	6122	SO:0001819	synonymous_variant	79591					integral to membrane		g.chr10:103649229A>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1800T>C	10.37:g.103649229A>G						C10orf76_uc009xwx.1_RNA	p.F600F	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	24	1902	-		Colorectal(252;0.123)	600					Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	c.1800T>C	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	6.883	0.532343	0.13127	.	.	ENSG00000120029	ENST00000431271	.	.	.	5.88	4.75	0.60458	.	.	.	.	.	T	0.32556	0.0833	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11227	-1.0596	5	0.06365	T	0.9	-14.6169	8.2334	0.31612	0.8044:0.0:0.1956:0.0	.	.	.	.	S	150	.	ENSP00000394311:L150S	L	-	2	0	C10orf76	103639219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.524000	0.45589	1.066000	0.40716	0.533000	0.62120	TTA		0.428	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1		NM_024541		51	180	0	0	0	0.01441	0	51	180		
PSD	5662	broad.mit.edu	37	10	104174879	104174879	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:104174879C>T	ENST00000020673.5	-	4	1391	c.865G>A	c.(865-867)Gac>Aac	p.D289N	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.D289N	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	289					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGCACCGTGTCCAGGTCTGTC	0.672																																						uc001kvg.1		NaN																	0				breast(2)|urinary_tract(1)	3						c.(865-867)GAC>AAC		pleckstrin and Sec7 domain containing							47.0	46.0	46.0					10																	104174879		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104174879C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.865G>A	10.37:g.104174879C>T	ENSP00000020673:p.Asp289Asn					PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.D289N	p.D289N	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	4	1392	-			289					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.865G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	37	6.089271	0.97271	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.16743	2.32;2.32	5.31	5.31	0.75309	.	0.112976	0.56097	D	0.000021	T	0.32941	0.0846	L	0.32530	0.975	0.47245	D	0.999365	D	0.89917	1.0	D	0.80764	0.994	T	0.02404	-1.1164	10	0.46703	T	0.11	.	18.562	0.91104	0.0:1.0:0.0:0.0	.	289	A5PKW4	PSD1_HUMAN	N	289;192;289	ENSP00000020673:D289N;ENSP00000384830:D289N	ENSP00000020673:D289N	D	-	1	0	PSD	104164869	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.408000	0.80041	2.484000	0.83849	0.561000	0.74099	GAC		0.672	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2				8	43	0	0	0	0.00308	0	8	43		
TRUB1	142940	broad.mit.edu	37	10	116732026	116732026	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:116732026C>T	ENST00000298746.3	+	6	790	c.729C>T	c.(727-729)ttC>ttT	p.F243F	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	243					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CACCATTTTTCACATTAGGTA	0.358																																						uc001lcd.2		NaN																	0					0						c.(727-729)TTC>TTT		TruB pseudouridine (psi) synthase homolog 1							102.0	104.0	103.0					10																	116732026		2203	4300	6503	SO:0001819	synonymous_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116732026C>T	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.729C>T	10.37:g.116732026C>T						TRUB1_uc010qsl.1_Silent_p.F145F	p.F243F	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	6	790	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	243					B2R716|Q53ES2	Silent	SNP	ENST00000298746.3	37	c.729C>T	CCDS7591.1																																																																																				0.358	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1		NM_139169		30	52	0	0	0	0.009535	0	30	52		
PNLIP	5406	broad.mit.edu	37	10	118306905	118306905	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:118306905A>G	ENST00000369221.2	+	3	174	c.146A>G	c.(145-147)aAa>aGa	p.K49R	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	49					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGGTCTCCAAAAGATGTCAAC	0.443																																						uc001lcm.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(145-147)AAA>AGA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						84.0	81.0	82.0					10																	118306905		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306905A>G	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.146A>G	10.37:g.118306905A>G	ENSP00000358223:p.Lys49Arg						p.K49R	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	189	+			49					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.146A>G	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506309	0.44558	.	.	ENSG00000175535	ENST00000369221	D	0.90732	-2.72	5.36	3.13	0.36017	Lipase, N-terminal (1);	0.860233	0.10277	N	0.694015	D	0.86075	0.5846	L	0.38838	1.175	0.09310	N	1	B	0.22800	0.075	B	0.29716	0.106	T	0.75991	-0.3122	10	0.52906	T	0.07	.	7.024	0.24930	0.7279:0.1868:0.0853:0.0	.	49	P16233	LIPP_HUMAN	R	49	ENSP00000358223:K49R	ENSP00000358223:K49R	K	+	2	0	PNLIP	118296895	0.002000	0.14202	0.003000	0.11579	0.944000	0.59088	1.739000	0.38217	0.559000	0.29153	0.482000	0.46254	AAA		0.443	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		NM_000936		11	65	0	0	0	0.008291	0	11	65		
WDR11	55717	broad.mit.edu	37	10	122626260	122626260	+	Silent	SNP	C	C	A	rs375696471		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:122626260C>A	ENST00000263461.6	+	8	1420	c.1174C>A	c.(1174-1176)Cga>Aga	p.R392R		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	503					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGTTTGTAATCGAAATTCACG	0.393																																						uc010qtf.1		NaN																	0					0						c.(1174-1176)CGA>AGA		bromodomain and WD repeat domain containing 2		C		0,4406		0,0,2203	144.0	139.0	141.0		1174	0.6	0.0	10		141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR11	NM_018117.11		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		392/1225	122626260	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122626260C>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1174C>A	10.37:g.122626260C>A						WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.R392R	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			8	1412	+			392			WD 3.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.1174C>A	CCDS7619.1																																																																																				0.393	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2				31	56	1	0	2.81731e-10	0.010818	3.06774e-10	31	56		
C10orf88	80007	broad.mit.edu	37	10	124708192	124708192	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:124708192C>T	ENST00000481909.1	-	4	845	c.621G>A	c.(619-621)ttG>ttA	p.L207L	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	207										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCATATCCATCAACTGCTGAG	0.413																																						uc001lgw.2		NaN																	0					0						c.(619-621)TTG>TTA		hypothetical protein LOC80007							101.0	93.0	96.0					10																	124708192		2203	4300	6503	SO:0001819	synonymous_variant	80007							g.chr10:124708192C>T	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.621G>A	10.37:g.124708192C>T						C10orf88_uc001lgx.2_Silent_p.L109L	p.L207L	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	4	846	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	207					Q0P6C6|Q8N597	Silent	SNP	ENST00000481909.1	37	c.621G>A	CCDS7632.1																																																																																				0.413	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1		NM_024942		10	42	0	0	0	0.006214	0	10	42		
MGMT	4255	broad.mit.edu	37	10	131565235	131565235	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:131565235G>T	ENST00000306010.7	+	5	723	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	200					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	AGCTACCTCGGGCTCCCCGCC	0.637								Direct reversal of damage																														uc001lkh.2		NaN																	0				ovary(1)|breast(1)	2						c.(691-693)GGC>TGC	Direct_reversal_of_damage	O-6-methylguanine-DNA methyltransferase							28.0	29.0	29.0					10																	131565235		2202	4300	6502	SO:0001583	missense	4255							g.chr10:131565235G>T	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.691G>T	10.37:g.131565235G>T	ENSP00000302111:p.Gly231Cys						p.G231C	NM_002412	NP_002403	P16455	MGMT_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	5	717	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	200					Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	c.691G>T	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746832	0.30955	.	.	ENSG00000170430	ENST00000306010	T	0.05786	3.39	4.33	-8.67	0.00863	.	0.964101	0.08491	N	0.937920	T	0.03651	0.0104	N	0.14661	0.345	0.09310	N	1	D	0.54047	0.964	B	0.43754	0.43	T	0.26538	-1.0100	10	0.51188	T	0.08	.	9.1339	0.36861	0.5905:0.2924:0.1171:0.0	.	231	B4DEE8	.	C	231	ENSP00000302111:G231C	ENSP00000302111:G231C	G	+	1	0	MGMT	131455225	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.261000	0.02855	-2.152000	0.00794	-0.971000	0.02607	GGC		0.637	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3		NM_002412		8	17	1	0	5.18039e-06	0.00308	5.4173e-06	8	17		
TRIM68	55128	broad.mit.edu	37	11	4623543	4623543	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:4623543C>T	ENST00000300747.5	-	4	911	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	208					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTGCTACCTCTGCCCCCAGC	0.537																																						uc001lzf.1		NaN																	0				ovary(1)	1						c.(622-624)GAG>AAG		ring finger protein 137							66.0	68.0	67.0					11																	4623543		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4623543C>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.622G>A	11.37:g.4623543C>T	ENSP00000300747:p.Glu208Lys					TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_RNA|TRIM68_uc009yek.1_Missense_Mutation_p.E208K	p.E208K	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	860	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	208			Potential.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.622G>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678607	0.47886	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.70869	-0.19;-0.52	4.17	4.17	0.49024	.	0.000000	0.36101	N	0.002797	T	0.62332	0.2419	N	0.14661	0.345	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.51701	0.677;0.677	T	0.58002	-0.7713	10	0.49607	T	0.09	.	12.6473	0.56742	0.0:1.0:0.0:0.0	.	176;208	E9PR29;Q6AZZ1	.;TRI68_HUMAN	K	208;176	ENSP00000300747:E208K;ENSP00000436112:E176K	ENSP00000300747:E208K	E	-	1	0	TRIM68	4580119	0.822000	0.29219	0.370000	0.25965	0.062000	0.15995	2.394000	0.44450	2.249000	0.74217	0.491000	0.48974	GAG		0.537	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1		NM_018073		18	24	0	0	0	0.00499	0	18	24		
OR51G1	79324	broad.mit.edu	37	11	4944672	4944672	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:4944672G>T	ENST00000321961.2	-	1	965	c.898C>A	c.(898-900)Caa>Aaa	p.Q300K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCGAATTTGCTTGGTCTTG	0.423																																						uc010qyr.1		NaN																	0				ovary(1)|skin(1)	2						c.(898-900)CAA>AAA		olfactory receptor, family 51, subfamily G,							152.0	140.0	144.0					11																	4944672		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944672G>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.898C>A	11.37:g.4944672G>T	ENSP00000322546:p.Gln300Lys						p.Q300K	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	898	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	300			Cytoplasmic (Potential).		B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.898C>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494224	0.44352	.	.	ENSG00000176879	ENST00000321961	T	0.36699	1.24	4.53	4.53	0.55603	.	0.000000	0.36409	U	0.002612	T	0.42653	0.1212	M	0.68952	2.095	0.31156	N	0.704969	P	0.52842	0.956	P	0.47299	0.543	T	0.56685	-0.7938	10	0.66056	D	0.02	.	11.955	0.52976	0.0:0.1756:0.8244:0.0	.	300	Q8NGK1	O51G1_HUMAN	K	300	ENSP00000322546:Q300K	ENSP00000322546:Q300K	Q	-	1	0	OR51G1	4901248	0.623000	0.27094	1.000000	0.80357	0.914000	0.54420	1.165000	0.31822	2.359000	0.80004	0.557000	0.71058	CAA		0.423	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1		NM_001005237		16	42	1	0	0.000308642	0.003163	0.000316013	16	42		
MICAL2	9645	broad.mit.edu	37	11	12231097	12231097	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:12231097G>C	ENST00000256194.4	+	6	931	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	MICAL2_ENST00000342902.5_Missense_Mutation_p.E215Q|MICAL2_ENST00000379612.3_Missense_Mutation_p.E215Q|MICAL2_ENST00000527546.1_Missense_Mutation_p.E215Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.E215Q	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	215	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTCGGAGTTTGAGTTTGACGT	0.532																																						uc001mjz.2		NaN																	0				upper_aerodigestive_tract(2)	2						c.(643-645)GAG>CAG		microtubule associated monoxygenase, calponin							159.0	149.0	152.0					11																	12231097		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12231097G>C	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.643G>C	11.37:g.12231097G>C	ENSP00000256194:p.Glu215Gln					MICAL2_uc010rch.1_Missense_Mutation_p.E215Q|MICAL2_uc001mka.2_Missense_Mutation_p.E215Q|MICAL2_uc010rci.1_Missense_Mutation_p.E215Q|MICAL2_uc001mkb.2_Missense_Mutation_p.E215Q|MICAL2_uc001mkc.2_Missense_Mutation_p.E215Q|MICAL2_uc001mkd.2_Missense_Mutation_p.E44Q	p.E215Q	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	6	931	+			215					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.643G>C	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008434	0.93346	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73	5.3	5.3	0.74995	Aromatic-ring hydroxylase-like (1);	0.121634	0.53938	D	0.000051	D	0.95522	0.8545	L	0.44542	1.39	0.80722	D	1	D;D;P;P;P	0.62365	0.987;0.991;0.911;0.644;0.794	P;P;B;B;B	0.54346	0.749;0.508;0.383;0.095;0.274	D	0.95009	0.8150	10	0.45353	T	0.12	.	18.7472	0.91797	0.0:0.0:1.0:0.0	.	215;215;215;215;215	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	Q	215	ENSP00000441689:E215Q;ENSP00000256194:E215Q;ENSP00000433965:E215Q;ENSP00000344894:E215Q;ENSP00000368932:E215Q	ENSP00000256194:E215Q	E	+	1	0	MICAL2	12187673	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.623000	0.98386	2.755000	0.94549	0.557000	0.71058	GAG		0.532	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		29	33	0	0	0	0.00632	0	29	33		
LGR4	55366	broad.mit.edu	37	11	27405924	27405924	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:27405924C>G	ENST00000379214.4	-	6	1091	c.648G>C	c.(646-648)ctG>ctC	p.L216L	LGR4_ENST00000389858.4_Silent_p.L192L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	216					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGTGTTGACTCAGGCTTCTAA	0.323																																						uc001mrj.3		NaN																	0				ovary(1)	1						c.(646-648)CTG>CTC		leucine-rich repeat-containing G protein-coupled							134.0	145.0	141.0					11																	27405924		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27405924C>G	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.648G>C	11.37:g.27405924C>G						LGR4_uc001mrk.3_Silent_p.L192L	p.L216L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			6	1133	-			216			LRR 7.|Extracellular (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.648G>C	CCDS31449.1																																																																																				0.323	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1		NM_018490		32	42	0	0	0	0.010818	0	32	42		
KCNA4	3739	broad.mit.edu	37	11	30032651	30032651	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:30032651C>G	ENST00000328224.6	-	2	2808	c.1575G>C	c.(1573-1575)gtG>gtC	p.V525V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	525					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCCATAGCCCACAGTTGTCA	0.517																																						uc001msk.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1573-1575)GTG>GTC		potassium voltage-gated channel, shaker-related							58.0	59.0	59.0					11																	30032651		2189	4296	6485	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032651C>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1575G>C	11.37:g.30032651C>G							p.V525V	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2727	-			525			Selectivity filter (By similarity).			Silent	SNP	ENST00000328224.6	37	c.1575G>C	CCDS41629.1																																																																																				0.517	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2		NM_002233		14	40	0	0	0	0.016723	0	14	40		
TRAF6	7189	broad.mit.edu	37	11	36512195	36512195	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:36512195C>T	ENST00000526995.1	-	7	1008	c.762G>A	c.(760-762)caG>caA	p.Q254Q	TRAF6_ENST00000348124.5_Silent_p.Q254Q|TRAF6_ENST00000529150.1_5'UTR	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	254	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AGTGATTCCTCTGCATCTAAA	0.473																																						uc001mwr.1		NaN																	0				ovary(1)	1						c.(760-762)CAG>CAA		TNF receptor-associated factor 6							56.0	56.0	56.0					11																	36512195		2202	4297	6499	SO:0001819	synonymous_variant	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|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|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36512195C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.762G>A	11.37:g.36512195C>T						TRAF6_uc001mws.1_Silent_p.Q254Q	p.Q254Q	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			8	1102	-	all_lung(20;0.211)	all_hematologic(20;0.107)	254			Interaction with TAX1BP1.|TRAF-type 2.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	37	c.762G>A	CCDS7901.1																																																																																				0.473	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1		NM_145803		28	57	0	0	0	0.00632	0	28	57		
OR5D18	219438	broad.mit.edu	37	11	55587908	55587908	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:55587908C>G	ENST00000333976.4	+	1	823	c.803C>G	c.(802-804)tCc>tGc	p.S268C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCAAAAACTCCAGGCACACA	0.507																																						uc010rin.1		NaN																	0				skin(2)|ovary(1)	3						c.(802-804)TCC>TGC		olfactory receptor, family 5, subfamily D,							90.0	86.0	87.0					11																	55587908		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587908C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.803C>G	11.37:g.55587908C>G	ENSP00000335025:p.Ser268Cys						p.S268C	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	803	+		all_epithelial(135;0.208)	268			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.803C>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	13.13	2.145101	0.37825	.	.	ENSG00000186119	ENST00000333976	T	0.00279	8.33	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38720	N	0.001583	T	0.00815	0.0027	M	0.93854	3.465	0.27375	N	0.955583	D	0.76494	0.999	D	0.78314	0.991	T	0.18178	-1.0345	10	0.87932	D	0	-40.6949	7.8719	0.29571	0.0:0.8216:0.0:0.1784	.	268	Q8NGL1	OR5DI_HUMAN	C	268	ENSP00000335025:S268C	ENSP00000335025:S268C	S	+	2	0	OR5D18	55344484	0.000000	0.05858	0.986000	0.45419	0.253000	0.25986	0.190000	0.17057	2.420000	0.82092	0.573000	0.79308	TCC		0.507	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1		NM_001001952		32	59	0	0	0	0.008361	0	32	59		
OR10AG1	282770	broad.mit.edu	37	11	55735793	55735793	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:55735793G>A	ENST00000312345.2	-	1	197	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAAAATACATGGGAGTCTGGA	0.333																																						uc010rit.1		NaN																	0				skin(2)	2						c.(145-147)CCC>CCT		olfactory receptor, family 10, subfamily AG,							52.0	60.0	57.0					11																	55735793		2201	4294	6495	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735793G>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.147C>T	11.37:g.55735793G>A							p.P49P	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	147	-	Esophageal squamous(21;0.0137)		49			Helical; Name=2; (Potential).		B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.147C>T	CCDS31514.1																																																																																				0.333	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1		NM_001005491		48	54	0	0	0	0.01441	0	48	54		
TNKS1BP1	85456	broad.mit.edu	37	11	57069342	57069342	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:57069342G>A	ENST00000532437.1	-	8	5221	c.4910C>T	c.(4909-4911)tCg>tTg	p.S1637L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1637L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1637	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGTGCCCAACGACATCCGTGT	0.582																																						uc001njr.2		NaN																	0				skin(1)	1						c.(4909-4911)TCG>TTG		tankyrase 1-binding protein 1							101.0	89.0	93.0					11																	57069342		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57069342G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4910C>T	11.37:g.57069342G>A	ENSP00000437271:p.Ser1637Leu					TNKS1BP1_uc001njp.2_Missense_Mutation_p.S209L|TNKS1BP1_uc001njq.2_Missense_Mutation_p.S210L|TNKS1BP1_uc001njs.2_Missense_Mutation_p.S1637L	p.S1637L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			8	5222	-		all_epithelial(135;0.21)	1637			Arg/Glu/Lys-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4910C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467699	0.84533	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.35789	1.29;1.29	4.16	4.16	0.48862	.	0.247104	0.34025	N	0.004333	T	0.47637	0.1456	L	0.54323	1.7	0.33012	D	0.527692	D;P	0.76494	0.999;0.883	P;B	0.55824	0.785;0.209	T	0.63554	-0.6611	10	0.87932	D	0	-16.3539	13.4965	0.61428	0.0:0.0:1.0:0.0	.	1637;219	Q9C0C2;Q86TK2	TB182_HUMAN;.	L	1637	ENSP00000350990:S1637L;ENSP00000437271:S1637L	ENSP00000350990:S1637L	S	-	2	0	TNKS1BP1	56825918	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.057000	0.64294	2.160000	0.67779	0.561000	0.74099	TCG		0.582	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396		4	56	0	0	0	0.009096	0	4	56		
PRG3	10394	broad.mit.edu	37	11	57147185	57147185	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:57147185T>A	ENST00000287143.2	-	3	266	c.157A>T	c.(157-159)Acg>Tcg	p.T53S		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						ACCTCCTCCGTCAGAGCCAAG	0.562																																					Melanoma(154;1456 2519 19358 45229)	uc001njv.1		NaN																	0					0						c.(157-159)ACG>TCG		proteoglycan 3 precursor							92.0	83.0	86.0					11																	57147185		2201	4296	6497	SO:0001583	missense	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57147185T>A	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.157A>T	11.37:g.57147185T>A	ENSP00000287143:p.Thr53Ser						p.T53S	NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN			3	267	-			53					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	c.157A>T	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	T	3.255	-0.152365	0.06585	.	.	ENSG00000156575	ENST00000287143	T	0.36699	1.24	4.29	-1.01	0.10169	.	1.172930	0.06107	N	0.666503	T	0.14874	0.0359	N	0.20401	0.57	0.09310	N	1	P	0.39748	0.686	B	0.24848	0.056	T	0.12682	-1.0538	10	0.10902	T	0.67	0.2849	4.6603	0.12639	0.0:0.2049:0.4322:0.3629	.	53	Q9Y2Y8	PRG3_HUMAN	S	53	ENSP00000287143:T53S	ENSP00000287143:T53S	T	-	1	0	PRG3	56903761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.900000	0.04097	-0.171000	0.10797	-0.435000	0.05868	ACG		0.562	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1		NM_006093		26	82	0	0	0	0.004656	0	26	82		
OR10Q1	219960	broad.mit.edu	37	11	57995510	57995510	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:57995510C>T	ENST00000316770.2	-	1	880	c.838G>A	c.(838-840)Gcg>Acg	p.A280T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A280T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAGACCAACGCGATTTGGCTG	0.547																																						uc010rkd.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(838-840)GCG>ACG		olfactory receptor, family 10, subfamily Q,							125.0	111.0	116.0					11																	57995510		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995510C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.838G>A	11.37:g.57995510C>T	ENSP00000314324:p.Ala280Thr						p.A280T	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	838	-		Breast(21;0.0589)	280			Helical; Name=7; (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.838G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759408	0.31137	.	.	ENSG00000180475	ENST00000316770	T	0.00152	8.66	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.00271	0.0008	L	0.35723	1.085	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.68864	-0.5296	10	0.31617	T	0.26	.	10.9225	0.47174	0.2833:0.7167:0.0:0.0	.	280	Q8NGQ4	O10Q1_HUMAN	T	280	ENSP00000314324:A280T	ENSP00000314324:A280T	A	-	1	0	OR10Q1	57752086	0.062000	0.20869	0.502000	0.27614	0.235000	0.25334	0.467000	0.22035	2.638000	0.89438	0.650000	0.86243	GCG		0.547	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1		NM_001004471		23	118	0	0	0	0.014323	0	23	118		
OOSP2	219990	broad.mit.edu	37	11	59807984	59807984	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:59807984G>A	ENST00000278855.2	+	1	237	c.52G>A	c.(52-54)Gag>Aag	p.E18K	PLAC1L_ENST00000532905.1_5'UTR	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		18						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GACCGGTGCTGAGAACCTCCA	0.458																																						uc001nol.2		NaN																	0				ovary(2)|skin(1)	3						c.(52-54)GAG>AAG		placenta-specific 1-like precursor							170.0	147.0	155.0					11																	59807984		2201	4295	6496	SO:0001583	missense	219990					extracellular region		g.chr11:59807984G>A																												ENST00000278855.2:c.52G>A	11.37:g.59807984G>A	ENSP00000278855:p.Glu18Lys						p.E18K	NM_173801	NP_776162	Q86WS3	PLACL_HUMAN			1	237	+			18					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.52G>A	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	G	9.148	1.015553	0.19355	.	.	ENSG00000149507	ENST00000278855	.	.	.	3.88	2.93	0.34026	.	1.203080	0.06309	N	0.702389	T	0.36054	0.0953	L	0.43152	1.355	0.21579	N	0.999632	P	0.46512	0.879	P	0.45538	0.484	T	0.18777	-1.0326	9	0.29301	T	0.29	0.7598	8.5559	0.33480	0.0:0.0:0.7591:0.2409	.	18	Q86WS3	PLACL_HUMAN	K	18	.	ENSP00000278855:E18K	E	+	1	0	PLAC1L	59564560	0.005000	0.15991	0.030000	0.17652	0.029000	0.11900	1.029000	0.30140	1.144000	0.42321	0.563000	0.77884	GAG		0.458	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1				31	79	0	0	0	0.012213	0	31	79		
TMEM132A	54972	broad.mit.edu	37	11	60695278	60695278	+	Missense_Mutation	SNP	C	C	T	rs374191784		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:60695278C>T	ENST00000453848.2	+	3	639	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Missense_Mutation_p.R161W			Q24JP5	T132A_HUMAN	transmembrane protein 132A	161						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCTGTGCCCGGCTCCATGC	0.652																																						uc001nqj.2		NaN																	0				skin(1)	1						c.(481-483)CGG>TGG		transmembrane protein 132A isoform b		C	TRP/ARG,TRP/ARG	0,4402		0,0,2201	30.0	33.0	32.0		481,481	3.1	1.0	11		32	1,8593		0,1,4296	no	missense,missense	TMEM132A	NM_178031.2,NM_017870.3	101,101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	161/1024,161/1025	60695278	1,12995	2201	4297	6498	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60695278C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.481C>T	11.37:g.60695278C>T	ENSP00000405823:p.Arg161Trp					TMEM132A_uc001nqi.2_Missense_Mutation_p.R161W|TMEM132A_uc001nqk.2_Missense_Mutation_p.R174W|TMEM132A_uc001nql.1_Missense_Mutation_p.R174W	p.R161W	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			3	674	+			161			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.481C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317313	0.40996	0.0	1.16E-4	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.07688	3.17;3.18	4.97	3.07	0.35406	.	0.499783	0.19016	N	0.124951	T	0.11024	0.0269	M	0.75615	2.305	0.32976	D	0.523003	B;B;B	0.22211	0.066;0.008;0.008	B;B;B	0.14578	0.011;0.005;0.005	T	0.03463	-1.1034	10	0.87932	D	0	.	6.7651	0.23562	0.3737:0.542:0.0:0.0842	.	150;161;161	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	W	161	ENSP00000405823:R161W;ENSP00000005286:R161W	ENSP00000005286:R161W	R	+	1	2	TMEM132A	60451854	0.002000	0.14202	1.000000	0.80357	0.816000	0.46133	-0.051000	0.11885	0.603000	0.29913	0.563000	0.77884	CGG		0.652	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1		NM_017870		26	45	0	0	0	0.021523	0	26	45		
NPAS4	266743	broad.mit.edu	37	11	66190264	66190264	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:66190264G>T	ENST00000311034.2	+	4	726	c.550G>T	c.(550-552)Gga>Tga	p.G184*		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	184					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTACTGGGCAGGAAATCCCGT	0.622																																						uc001ohx.1		NaN																	0					0						c.(550-552)GGA>TGA		neuronal PAS domain protein 4							107.0	104.0	105.0					11																	66190264		2200	4295	6495	SO:0001587	stop_gained	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190264G>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.550G>T	11.37:g.66190264G>T	ENSP00000311196:p.Gly184*					NPAS4_uc010rpc.1_Missense_Mutation_p.Q10H	p.G184*	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			4	726	+			184					B7ZL81|Q8N8S5|Q8N9Q9	Nonsense_Mutation	SNP	ENST00000311034.2	37	c.550G>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	38	6.735831	0.97801	.	.	ENSG00000174576	ENST00000311034	.	.	.	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-8.0382	12.3716	0.55258	0.0:0.0:0.8317:0.1683	.	.	.	.	X	184	.	ENSP00000311196:G184X	G	+	1	0	NPAS4	65946840	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.111000	0.50360	2.702000	0.92279	0.655000	0.94253	GGA		0.622	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1		NM_178864		25	97	1	0	2.98393e-07	0.016522	3.1984e-07	25	97		
NPAS4	266743	broad.mit.edu	37	11	66191516	66191516	+	Silent	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:66191516T>C	ENST00000311034.2	+	7	1331	c.1155T>C	c.(1153-1155)tcT>tcC	p.S385S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	385					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GTGTTGTCTCTGCATCAGAAG	0.562																																						uc001ohx.1		NaN																	0					0						c.(1153-1155)TCT>TCC		neuronal PAS domain protein 4							127.0	131.0	130.0					11																	66191516		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191516T>C	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1155T>C	11.37:g.66191516T>C						NPAS4_uc010rpc.1_Silent_p.S175S	p.S385S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1331	+			385					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1155T>C	CCDS8138.1																																																																																				0.562	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1		NM_178864		31	193	0	0	0	0.007291	0	31	193		
CABP4	57010	broad.mit.edu	37	11	67222934	67222934	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:67222934C>G	ENST00000325656.5	+	1	117	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron|GPR152_ENST00000312457.2_5'Flank	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	14					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGGCCCAAATCTGGCCATTGG	0.632																																						uc001olo.2		NaN																	0					0						c.(40-42)CTG>GTG		calcium binding protein 4							14.0	16.0	15.0					11																	67222934		2177	4232	6409	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67222934C>G	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.40C>G	11.37:g.67222934C>G	ENSP00000324960:p.Leu14Val					GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	p.L14V	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	117	+			14					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.40C>G	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	7.841	0.721851	0.15372	.	.	ENSG00000175544	ENST00000325656	T	0.68331	-0.32	3.79	1.88	0.25563	.	13.076400	0.00166	N	0.000001	T	0.52933	0.1765	N	0.24115	0.695	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.31364	-0.9946	10	0.28530	T	0.3	1.6927	5.8344	0.18599	0.0:0.7504:0.0:0.2496	.	14	P57796	CABP4_HUMAN	V	14	ENSP00000324960:L14V	ENSP00000324960:L14V	L	+	1	2	CABP4	66979510	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.173000	0.09854	0.394000	0.25230	0.491000	0.48974	CTG		0.632	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2				5	5	0	0	0	0.001168	0	5	5		
UNC93B1	81622	broad.mit.edu	37	11	67766749	67766749	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:67766749G>C	ENST00000227471.2	-	5	660	c.581C>G	c.(580-582)tCc>tGc	p.S194C	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	194					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											CTTGTAGTGGGAGTACTCATG	0.612																																						uc001omw.1		NaN																	0					0						c.(580-582)TCC>TGC		unc-93 homolog B1							41.0	47.0	45.0					11																	67766749		2057	4187	6244	SO:0001583	missense	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67766749G>C	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.581C>G	11.37:g.67766749G>C	ENSP00000227471:p.Ser194Cys						p.S194C	NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN			5	661	-			194					O95764|Q569H6|Q710D4	Missense_Mutation	SNP	ENST00000227471.2	37	c.581C>G		.	.	.	.	.	.	.	.	.	.	.	17.08	3.296829	0.60086	.	.	ENSG00000110057	ENST00000227471;ENST00000528423	T;T	0.07567	3.18;3.18	4.82	2.51	0.30379	.	0.496764	0.21894	N	0.067559	T	0.08223	0.0205	.	.	.	0.25747	N	0.985099	P	0.42941	0.794	P	0.45377	0.478	T	0.15752	-1.0426	9	0.36615	T	0.2	-20.7341	4.4975	0.11844	0.4403:0.0:0.5597:0.0	.	194	Q9H1C4	UN93B_HUMAN	C	194;123	ENSP00000227471:S194C;ENSP00000437195:S123C	ENSP00000227471:S194C	S	-	2	0	UNC93B1	67523325	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	2.324000	0.43831	1.156000	0.42514	0.561000	0.74099	TCC		0.612	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_030930		17	17	0	0	0	0.004007	0	17	17		
ARHGEF17	9828	broad.mit.edu	37	11	73066945	73066945	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:73066945G>A	ENST00000263674.3	+	5	3960	c.3610G>A	c.(3610-3612)Gac>Aac	p.D1204N	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1204	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGCGCTGTCTGACCTCATGAT	0.567																																						uc001otu.2		NaN																	0					0						c.(3610-3612)GAC>AAC		Rho guanine nucleotide exchange factor (GEF) 17							157.0	146.0	150.0					11																	73066945		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73066945G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3610G>A	11.37:g.73066945G>A	ENSP00000263674:p.Asp1204Asn						p.D1204N	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			5	3631	+			1204			DH.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.3610G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020144	0.93462	.	.	ENSG00000110237	ENST00000263674	T	0.70282	-0.47	5.68	5.68	0.88126	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.80344	-0.1422	10	0.45353	T	0.12	-26.6458	18.3768	0.90438	0.0:0.0:1.0:0.0	.	1204	Q96PE2	ARHGH_HUMAN	N	1204	ENSP00000263674:D1204N	ENSP00000263674:D1204N	D	+	1	0	ARHGEF17	72744593	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GAC		0.567	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786		28	99	0	0	0	0.010818	0	28	99		
ARHGEF17	9828	broad.mit.edu	37	11	73067780	73067780	+	Silent	SNP	G	G	A	rs539172281		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:73067780G>A	ENST00000263674.3	+	7	4217	c.3867G>A	c.(3865-3867)ctG>ctA	p.L1289L	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1289					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGCGGTTCCTGAGACAGGAGA	0.552																																						uc001otu.2		NaN																	0					0						c.(3865-3867)CTG>CTA		Rho guanine nucleotide exchange factor (GEF) 17							107.0	108.0	108.0					11																	73067780		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73067780G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3867G>A	11.37:g.73067780G>A							p.L1289L	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			7	3888	+			1289					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.3867G>A	CCDS8221.1																																																																																				0.552	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786		7	35	0	0	0	0.004482	0	7	35		
UVRAG	7405	broad.mit.edu	37	11	75852128	75852128	+	Missense_Mutation	SNP	G	G	A	rs375334287		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:75852128G>A	ENST00000356136.3	+	15	2012	c.1771G>A	c.(1771-1773)Ggg>Agg	p.G591R	UVRAG_ENST00000538870.1_Missense_Mutation_p.G147R|UVRAG_ENST00000531818.1_Missense_Mutation_p.G219R|UVRAG_ENST00000532130.1_Missense_Mutation_p.G219R|UVRAG_ENST00000539288.1_Missense_Mutation_p.G219R|UVRAG_ENST00000533454.1_Missense_Mutation_p.G219R|UVRAG_ENST00000528420.1_Missense_Mutation_p.G490R	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	591					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGCCCTCTCCGGGCACCGGGC	0.577																																						uc001oxc.2		NaN																	0				skin(4)|lung(2)	6						c.(1771-1773)GGG>AGG		UV radiation resistance associated		G	ARG/GLY	1,4399	2.1+/-5.4	0,1,2199	34.0	40.0	38.0		1771	3.7	0.0	11		38	0,8584		0,0,4292	no	missense	UVRAG	NM_003369.3	125	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign	591/700	75852128	1,12983	2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75852128G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1771G>A	11.37:g.75852128G>A	ENSP00000348455:p.Gly591Arg					UVRAG_uc010rrw.1_Missense_Mutation_p.G490R|UVRAG_uc001oxd.2_Missense_Mutation_p.G219R|UVRAG_uc010rrx.1_Missense_Mutation_p.G219R|UVRAG_uc010rry.1_Missense_Mutation_p.G147R	p.G591R	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			15	2012	+			591					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1771G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136613	0.01742	2.27E-4	0.0	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.42131	0.98	5.6	3.72	0.42706	.	0.626744	0.16993	N	0.191210	T	0.25457	0.0619	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.14578	0.011;0.001	T	0.16453	-1.0402	10	0.29301	T	0.29	-2.9598	7.1859	0.25799	0.1617:0.1433:0.695:0.0	.	147;591	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	R	591;490;219;219;219;219;147	ENSP00000348455:G591R	ENSP00000348455:G591R	G	+	1	0	UVRAG	75529776	0.389000	0.25205	0.024000	0.17045	0.001000	0.01503	2.257000	0.43240	0.732000	0.32470	-0.136000	0.14681	GGG		0.577	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1		NM_003369		9	28	0	0	0	0.004482	0	9	28		
EED	8726	broad.mit.edu	37	11	85977208	85977209	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:85977208_85977209GA>CT	ENST00000263360.6	+	8	1496_1497	c.810_811GA>CT	c.(808-813)atGAtg>atCTtg	p.270_271MM>IL	EED_ENST00000351625.6_Missense_Mutation_p.270_271MM>IL|EED_ENST00000327320.4_Missense_Mutation_p.270_271MM>IL|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	270	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CAAAGAGAATGATGAATGCAAT	0.302																																						uc001pbp.2		NaN																	0				skin(1)|pancreas(1)	2						c.(808-813)ATGATG>ATCTTG		embryonic ectoderm development isoform a																																				SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85977208_85977209GA>CT	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	Exception_encountered	11.37:g.85977208_85977209delinsCT	ENSP00000263360:p.M270_M271delinsIL					EED_uc010rtm.1_Missense_Mutation_p.270_271MM>IL|EED_uc001pbq.2_Missense_Mutation_p.270_271MM>IL|EED_uc001pbr.2_Missense_Mutation_p.270_271MM>IL|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	p.270_271MM>IL	NM_003797	NP_003788	O75530	EED_HUMAN			8	1267_1268	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	270_271			Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	DNP	ENST00000263360.6	37	c.810_811GA>CT	CCDS8273.1																																																																																				0.302	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1		NM_003797		13	85	0	0	0	0.004672	0	13	85		
TRPC6	7225	broad.mit.edu	37	11	101347251	101347251	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:101347251C>T	ENST00000344327.3	-	6	1949	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	TRPC6_ENST00000360497.4_Missense_Mutation_p.E454K|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.E393K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	509					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCTTTACATTCAGCCCATATC	0.378																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1525-1527)GAA>AAA		transient receptor potential cation channel,							59.0	58.0	59.0					11																	101347251		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101347251C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1525G>A	11.37:g.101347251C>T	ENSP00000340913:p.Glu509Lys					TRPC6_uc009ywy.2_Missense_Mutation_p.E393K|TRPC6_uc009ywz.1_Missense_Mutation_p.E454K	p.E509K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	6	1950	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	509			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1525G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	35	5.439558	0.96168	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	D;D;D	0.98585	-5.01;-5.01;-5.01	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.85859	2.78	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.996	P;D;D	0.65874	0.893;0.939;0.935	D	0.99425	1.0934	10	0.62326	D	0.03	-5.7052	20.437	0.99096	0.0:1.0:0.0:0.0	.	454;393;509	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	K	509;393;454	ENSP00000340913:E509K;ENSP00000343672:E393K;ENSP00000353687:E454K	ENSP00000340913:E509K	E	-	1	0	TRPC6	100852461	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.811000	0.86092	2.831000	0.97527	0.643000	0.83706	GAA		0.378	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1		NM_004621		25	27	0	0	0	0.021523	0	25	27		
OR8A1	390275	broad.mit.edu	37	11	124440753	124440753	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:124440753C>T	ENST00000284287.3	+	1	861	c.789C>T	c.(787-789)gcC>gcT	p.A263A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	263					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACCTTGCAGCCGTGGGAATGT	0.507																																						uc010san.1		NaN																	0				ovary(1)	1						c.(787-789)GCC>GCT		olfactory receptor, family 8, subfamily A,							85.0	78.0	80.0					11																	124440753		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440753C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.789C>T	11.37:g.124440753C>T							p.A263A	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	789	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	263			Helical; Name=6; (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.789C>T	CCDS31712.1																																																																																				0.507	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1		NM_001005194		28	31	0	0	0	0.007291	0	28	31		
RPUSD4	84881	broad.mit.edu	37	11	126081382	126081382	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:126081382C>T	ENST00000298317.4	-	1	205	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	RPUSD4_ENST00000534393.1_5'Flank|RPUSD4_ENST00000533628.1_Missense_Mutation_p.R51Q|FAM118B_ENST00000529731.1_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000533050.1_5'UTR|FAM118B_ENST00000360194.4_5'Flank|RNU4-86P_ENST00000410135.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	51					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTTCTGGGCTCGGAGCTTCTC	0.567																																						uc001qde.2		NaN																	0				breast(1)	1						c.(151-153)CGA>CAA		RNA pseudouridylate synthase domain containing 4							148.0	158.0	155.0					11																	126081382		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126081382C>T	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.152G>A	11.37:g.126081382C>T	ENSP00000298317:p.Arg51Gln					FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Missense_Mutation_p.R51Q|RPUSD4_uc009zby.2_RNA	p.R51Q	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	1	206	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	51			Potential.		E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.152G>A	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044324	0.55110	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.41758	2.75;2.6;0.99	5.31	5.31	0.75309	.	0.509864	0.19393	N	0.115365	T	0.55194	0.1905	M	0.78637	2.42	0.80722	D	1	P;D	0.64830	0.875;0.994	B;P	0.50754	0.216;0.649	T	0.59166	-0.7505	10	0.54805	T	0.06	-8.3297	14.3492	0.66688	0.0:1.0:0.0:0.0	.	51;51	E9PML2;Q96CM3	.;RUSD4_HUMAN	Q	51	ENSP00000298317:R51Q;ENSP00000433065:R51Q;ENSP00000433709:R51Q	ENSP00000298317:R51Q	R	-	2	0	RPUSD4	125586592	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	3.802000	0.55553	2.755000	0.94549	0.650000	0.86243	CGA		0.567	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1		NM_032795		61	80	0	0	0	0.01441	0	61	80		
ATF7IP	55729	broad.mit.edu	37	12	14589126	14589126	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:14589126G>A	ENST00000540793.1	+	3	1887	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	ATF7IP_ENST00000544627.1_Missense_Mutation_p.E586K|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E578K|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E577K|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E577K			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	578	Glu-rich.|Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAAGAATATGAGGCAGAATT	0.323																																						uc001rbw.2		NaN																	0				lung(3)|ovary(1)|skin(1)	5						c.(1732-1734)GAG>AAG		activating transcription factor 7 interacting							127.0	132.0	130.0					12																	14589126		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14589126G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1732G>A	12.37:g.14589126G>A	ENSP00000444589:p.Glu578Lys					ATF7IP_uc010shs.1_Missense_Mutation_p.E577K|ATF7IP_uc001rbu.2_Missense_Mutation_p.E578K|ATF7IP_uc001rbv.1_Missense_Mutation_p.E577K|ATF7IP_uc001rbx.2_Missense_Mutation_p.E577K|ATF7IP_uc010sht.1_Missense_Mutation_p.E578K|ATF7IP_uc001rby.3_Missense_Mutation_p.E578K|ATF7IP_uc001rca.2_Missense_Mutation_p.E578K	p.E578K	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			4	1890	+			578			Interaction with SETDB1.|Glu-rich.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1732G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170707	0.94807	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.35973	1.28;1.3;1.28;1.28;1.28	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	T	0.60366	0.2263	M	0.61703	1.905	0.54753	D	0.999988	D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.998;1.0;1.0	D;D;D;D;D;D	0.87578	0.994;0.998;0.994;0.994;0.998;0.998	T	0.61481	-0.7054	10	0.87932	D	0	-18.1586	19.2901	0.94095	0.0:0.0:1.0:0.0	.	586;577;577;578;577;189	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	K	578;17;577;577;586;578	ENSP00000261168:E578K;ENSP00000443179:E577K;ENSP00000445955:E577K;ENSP00000440440:E586K;ENSP00000444589:E578K	ENSP00000261168:E578K	E	+	1	0	ATF7IP	14480393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.442000	0.73443	2.728000	0.93425	0.585000	0.79938	GAG		0.323	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179		31	51	0	0	0	0.012213	0	31	51		
SLCO1B7	338821	broad.mit.edu	37	12	21229431	21229431	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:21229431C>T	ENST00000421593.2	+	12	1652	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M	RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.R52C|LST3_ENST00000540229.1_Missense_Mutation_p.T659M|LST3_ENST00000381541.3_Missense_Mutation_p.T598M|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T659M|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.T598M	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	551						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATTGATACAACGTGTATGAAG	0.363																																						uc010sil.1		NaN																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1975-1977)ACG>ATG		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							186.0	196.0	193.0					12																	21229431		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21229431C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1652C>T	12.37:g.21229431C>T	ENSP00000394168:p.Thr551Met					LST-3TM12_uc010sim.1_Missense_Mutation_p.T598M|LST-3TM12_uc010sin.1_Missense_Mutation_p.T551M	p.T659M			Q9NPD5	SO1B3_HUMAN			15	2041	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.1976C>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	8.804	0.933499	0.18206	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	T;T;T;T;T;D	0.81821	1.13;-1.49;1.13;-1.49;0.98;-1.54	2.4	1.49	0.22878	.	0.413227	0.27841	N	0.017640	D	0.87321	0.6148	M	0.82823	2.61	0.09310	N	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.76071	0.987;0.947;0.927	T	0.77091	-0.2716	10	0.72032	D	0.01	.	6.683	0.23131	0.0:0.8492:0.0:0.1508	.	551;598;659	G3V0H7;F5H094;Q5JAR4	.;.;.	M	659;598;659;598;551;60	ENSP00000451758:T659M;ENSP00000370952:T598M;ENSP00000441269:T659M;ENSP00000452013:T598M;ENSP00000394168:T551M;ENSP00000439857:T60M	ENSP00000370952:T598M	T	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21120698	0.053000	0.20554	0.065000	0.19835	0.177000	0.22998	3.726000	0.54977	0.335000	0.23614	-0.970000	0.02610	ACG		0.363	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1		NM_001009562		29	84	0	0	0	0.007291	0	29	84		
C2CD5	9847	broad.mit.edu	37	12	22646159	22646159	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:22646159G>C	ENST00000333957.4	-	11	1515	c.1260C>G	c.(1258-1260)atC>atG	p.I420M	C2CD5_ENST00000396028.2_Missense_Mutation_p.I411M|C2CD5_ENST00000542676.1_Missense_Mutation_p.I420M|C2CD5_ENST00000545552.1_Missense_Mutation_p.I433M|C2CD5_ENST00000446597.1_Missense_Mutation_p.I420M|C2CD5_ENST00000544930.1_Missense_Mutation_p.I235M|C2CD5_ENST00000536386.1_Missense_Mutation_p.I422M	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	420					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TCATTTACCAGATGCTAGTTG	0.383																																						uc001rfq.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1258-1260)ATC>ATG		hypothetical protein LOC9847							196.0	168.0	178.0					12																	22646159		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22646159G>C	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1260C>G	12.37:g.22646159G>C	ENSP00000334229:p.Ile420Met					KIAA0528_uc010sir.1_Missense_Mutation_p.I235M|KIAA0528_uc010sis.1_Missense_Mutation_p.I420M|KIAA0528_uc010sit.1_Missense_Mutation_p.I422M|KIAA0528_uc010siu.1_Missense_Mutation_p.I420M|KIAA0528_uc001rfr.2_Missense_Mutation_p.I411M|KIAA0528_uc009ziy.1_Missense_Mutation_p.I422M	p.I420M	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			11	1488	-			420					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1260C>G	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.95|16.95	3.263132|3.263132	0.59431|0.59431	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000535555	T;T;T;T;T;T;D|.	0.83591|.	0.51;0.51;0.51;0.51;0.51;0.51;-1.74|.	5.51|5.51	4.51|4.51	0.55191|0.55191	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67069|0.67069	0.2854|0.2854	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.997;0.999;0.999;0.999;0.998;0.998|.	T|T	0.70270|0.70270	-0.4918|-0.4918	10|5	0.87932|.	D|.	0|.	-14.0935|-14.0935	4.1527|4.1527	0.10245|0.10245	0.2513:0.0:0.7487:0.0|0.2513:0.0:0.7487:0.0	.|.	422;420;235;422;411;420|.	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7|.	.;.;.;.;.;K0528_HUMAN|.	M|V	420;420;422;411;420;433;235|118	ENSP00000334229:I420M;ENSP00000388756:I420M;ENSP00000439392:I422M;ENSP00000379345:I411M;ENSP00000441951:I420M;ENSP00000443204:I433M;ENSP00000445288:I235M|.	ENSP00000334229:I420M|.	I|L	-|-	3|1	3|2	KIAA0528|KIAA0528	22537426|22537426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.424000|3.424000	0.52764|0.52764	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	ATC|CTG		0.383	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1		NM_014802		17	92	0	0	0	0.004007	0	17	92		
PPFIBP1	8496	broad.mit.edu	37	12	27787986	27787986	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:27787986T>A	ENST00000318304.8	+	4	491	c.208T>A	c.(208-210)Ttg>Atg	p.L70M	PPFIBP1_ENST00000535047.1_Missense_Mutation_p.L70M|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L70M|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L70M|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.L70M|PPFIBP1_ENST00000537927.1_Intron	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	70					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAAAGAAGGCTTGAGATGCCA	0.458																																						uc001ric.1		NaN																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(208-210)TTG>ATG		PTPRF interacting protein binding protein 1							100.0	103.0	102.0					12																	27787986		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27787986T>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.208T>A	12.37:g.27787986T>A	ENSP00000314724:p.Leu70Met					PPFIBP1_uc001rhy.1_Missense_Mutation_p.L70M|PPFIBP1_uc001rhz.1_Missense_Mutation_p.L70M|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.L70M|PPFIBP1_uc001ria.2_Missense_Mutation_p.L70M|PPFIBP1_uc001rid.1_Intron	p.L70M	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			4	585	+	Lung SC(9;0.0873)		70					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.208T>A	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631686	0.46944	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000545334;ENST00000318304;ENST00000535047;ENST00000542629;ENST00000228425;ENST00000535575;ENST00000542187	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	4.53	2.16	0.27623	.	0.000000	0.27345	U	0.019788	T	0.26085	0.0636	L	0.50333	1.59	0.41741	D	0.989614	P;D;D;P;P	0.89917	0.952;1.0;0.972;0.952;0.849	P;D;D;P;P	0.87578	0.829;0.998;0.918;0.476;0.61	T	0.01081	-1.1458	10	0.72032	D	0.01	-9.6181	6.8913	0.24230	0.0:0.501:0.0:0.499	.	70;70;70;70;70	Q86W92;Q86W92-2;Q86W92-4;Q86W92-5;F5H0E0	LIPB1_HUMAN;.;.;.;.	M	70;70;70;70;70;70;70;70;83	ENSP00000445822:L70M;ENSP00000314724:L70M;ENSP00000444046:L70M;ENSP00000443442:L70M;ENSP00000228425:L70M	ENSP00000228425:L70M	L	+	1	2	PPFIBP1	27679253	0.077000	0.21312	0.996000	0.52242	0.827000	0.46813	0.492000	0.22435	0.278000	0.22164	0.254000	0.18369	TTG		0.458	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1		NM_003622		13	64	0	0	0	0.020292	0	13	64		
CNTN1	1272	broad.mit.edu	37	12	41421762	41421762	+	Silent	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:41421762G>T	ENST00000551295.2	+	22	2931	c.2814G>T	c.(2812-2814)acG>acT	p.T938T	CNTN1_ENST00000347616.1_Silent_p.T938T|CNTN1_ENST00000348761.2_Silent_p.T927T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	938	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTACAGTGACGGGATATAAGG	0.378																																						uc001rmm.1		NaN																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2812-2814)ACG>ACT		contactin 1 isoform 1 precursor							114.0	104.0	107.0					12																	41421762		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41421762G>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2814G>T	12.37:g.41421762G>T						CNTN1_uc001rmn.1_Silent_p.T927T	p.T938T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			22	2927	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	938			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2814G>T	CCDS8737.1																																																																																				0.378	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		NM_001843		16	37	1	0	1.5739e-10	0.004007	1.71926e-10	16	37		
ARID2	196528	broad.mit.edu	37	12	46244661	46244661	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:46244661C>G	ENST00000334344.6	+	15	2927	c.2755C>G	c.(2755-2757)Cag>Gag	p.Q919E	ARID2_ENST00000422737.1_Missense_Mutation_p.Q770E|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.Q529E|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	919	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAACAACCACAGCAGCCAAC	0.473			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(2755-2757)CAG>GAG		AT rich interactive domain 2 (ARID, RFX-like)							156.0	135.0	142.0					12																	46244661		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244661C>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2755C>G	12.37:g.46244661C>G	ENSP00000335044:p.Gln919Glu					ARID2_uc001ror.2_Missense_Mutation_p.Q919E|ARID2_uc009zkg.1_Missense_Mutation_p.Q375E|ARID2_uc009zkh.1_Missense_Mutation_p.Q546E|ARID2_uc001rou.1_Missense_Mutation_p.Q253E	p.Q919E	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2755	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	919			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.2755C>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.299956	0.23650	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.35048	1.33	5.54	4.59	0.56863	.	0.174309	0.53938	D	0.000055	T	0.26846	0.0657	N	0.19112	0.55	0.80722	D	1	B;B;B	0.29301	0.065;0.241;0.043	B;B;B	0.30495	0.082;0.116;0.023	T	0.09400	-1.0676	10	0.46703	T	0.11	-3.5373	15.157	0.72749	0.1418:0.8582:0.0:0.0	.	919;529;919	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	E	919;770;529	ENSP00000335044:Q919E	ENSP00000335044:Q919E	Q	+	1	0	ARID2	44530928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.095000	0.64529	2.612000	0.88384	0.561000	0.74099	CAG		0.473	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		17	123	0	0	0	0.006122	0	17	123		
CCNT1	904	broad.mit.edu	37	12	49087819	49087819	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:49087819C>A	ENST00000261900.3	-	9	1400	c.1178G>T	c.(1177-1179)cGc>cTc	p.R393L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	393					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATGCTTCGCGCGGTATTCTTT	0.448																																						uc001rse.1		NaN																	0				ovary(3)|lung(1)|breast(1)|skin(1)	6						c.(1177-1179)CGC>CTC		cyclin T1							232.0	237.0	235.0					12																	49087819		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087819C>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1178G>T	12.37:g.49087819C>A	ENSP00000261900:p.Arg393Leu					LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.R108L	p.R393L	NM_001240	NP_001231	O60563	CCNT1_HUMAN			9	1501	-			393			Potential.		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1178G>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725581	0.68959	.	.	ENSG00000129315	ENST00000261900	T	0.47869	0.83	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67860	-0.5561	10	0.87932	D	0	-12.9081	18.0305	0.89282	0.0:1.0:0.0:0.0	.	393	O60563	CCNT1_HUMAN	L	393	ENSP00000261900:R393L	ENSP00000261900:R393L	R	-	2	0	CCNT1	47374086	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	5.944000	0.70219	2.634000	0.89283	0.561000	0.74099	CGC		0.448	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1		NM_001240		32	160	1	0	3.99451e-17	0.009535	4.49218e-17	32	160		
KRT5	3852	broad.mit.edu	37	12	52910468	52910468	+	Silent	SNP	G	G	A	rs531299414		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:52910468G>A	ENST00000252242.4	-	7	1782	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	464	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGATCTCCACGTCCAGGGCCA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.001					uc001san.2		NaN																	0					0						c.(1390-1392)GAC>GAT		keratin 5							131.0	116.0	121.0					12																	52910468		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910468G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1392C>T	12.37:g.52910468G>A						KRT5_uc009zmh.2_Silent_p.D464D	p.D464D	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1555	-			464			Rod.|Coil 2.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.1392C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097611	0.20552	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.93	-0.434	0.12283	.	.	.	.	.	T	0.58323	0.2114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54043	-0.8352	4	.	.	.	.	11.3464	0.49563	0.5434:0.0:0.4566:0.0	.	.	.	.	C	172	.	.	R	-	1	0	KRT5	51196735	0.634000	0.27190	0.995000	0.50966	0.985000	0.73830	-0.168000	0.09925	-0.107000	0.12088	-0.345000	0.07892	CGT		0.602	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1				30	105	0	0	0	0.007291	0	30	105		
ERBB3	2065	broad.mit.edu	37	12	56477672	56477672	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:56477672C>T	ENST00000267101.3	+	2	660	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F	ERBB3_ENST00000415288.2_Missense_Mutation_p.L15F|ERBB3_ENST00000411731.2_Missense_Mutation_p.L74F|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	74					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAATGCCGACCTCTCCTTCCT	0.537																																						uc001sjh.2		NaN																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(220-222)CTC>TTC		erbB-3 isoform 1 precursor							245.0	198.0	214.0					12																	56477672		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56477672C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.220C>T	12.37:g.56477672C>T	ENSP00000267101:p.Leu74Phe					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.L15F|ERBB3_uc001sjg.2_Missense_Mutation_p.L74F	p.L74F	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		2	413	+			74			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.220C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601520	0.66445	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.96	5.96	0.96718	EGF receptor, L domain (1);	0.000000	0.56097	D	0.000024	D	0.84147	0.5408	M	0.80847	2.515	0.45150	D	0.998169	B;P	0.42456	0.45;0.78	B;B	0.44108	0.403;0.441	D	0.83385	0.0014	10	0.35671	T	0.21	.	17.3211	0.87236	0.0:1.0:0.0:0.0	.	74;74	P21860;P21860-2	ERBB3_HUMAN;.	F	74;15;74;74;74;15;15	ENSP00000448636:L74F;ENSP00000449138:L15F;ENSP00000267101:L74F;ENSP00000415753:L74F;ENSP00000449713:L15F;ENSP00000408340:L15F	ENSP00000267101:L74F	L	+	1	0	ERBB3	54763939	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.281000	0.58965	2.823000	0.97156	0.650000	0.86243	CTC		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				27	71	0	0	0	0.005443	0	27	71		
LRP1	4035	broad.mit.edu	37	12	57548325	57548325	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:57548325G>T	ENST00000243077.3	+	8	1534	c.1068G>T	c.(1066-1068)caG>caT	p.Q356H	LRP1_ENST00000554174.1_Missense_Mutation_p.Q356H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	356					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)	TGGATGGGCAGAACCGCACCA	0.527																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(1066-1068)CAG>CAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						121.0	85.0	97.0					12																	57548325		2203	4300	6503	SO:0001583	missense	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.chr12:57548325G>T	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.1068G>T	12.37:g.57548325G>T	ENSP00000243077:p.Gln356His					LRP1_uc001snc.1_Missense_Mutation_p.Q356H	p.Q356H	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	8	1534	+			356			LDL-receptor class B 2.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1068G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704501	0.48412	.	.	ENSG00000123384	ENST00000243077;ENST00000554174	D;D	0.91237	-2.81;-2.81	4.53	3.61	0.41365	Six-bladed beta-propeller, TolB-like (1);	0.080826	0.50627	N	0.000115	D	0.88753	0.6522	M	0.66297	2.02	0.41050	D	0.985299	B;B	0.12013	0.002;0.005	B;B	0.16722	0.002;0.016	D	0.86775	0.1975	10	0.72032	D	0.01	.	11.8242	0.52256	0.0:0.0:0.8236:0.1764	.	356;356	Q07954;Q6PJ72	LRP1_HUMAN;.	H	356	ENSP00000243077:Q356H;ENSP00000451737:Q356H	ENSP00000243077:Q356H	Q	+	3	2	LRP1	55834592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.589000	0.67523	1.226000	0.43582	0.650000	0.86243	CAG		0.527	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		10	27	1	0	2.17888e-05	0.006214	2.25107e-05	10	27		
CYP27B1	1594	broad.mit.edu	37	12	58158842	58158842	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:58158842C>A	ENST00000228606.4	-	4	951	c.742G>T	c.(742-744)Ggg>Tgg	p.G248W	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	248					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCCCAGGGCCCAGGCACAAGG	0.622											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001spz.1		NaN																	0				central_nervous_system(3)	3						c.(742-744)GGG>TGG		cytochrome P450, family 27, subfamily B,	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						49.0	50.0	50.0					12																	58158842		2203	4298	6501	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158842C>A	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.742G>T	12.37:g.58158842C>A	ENSP00000228606:p.Gly248Trp		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	CYP27B1_uc001sqa.1_Missense_Mutation_p.G13W|CYP27B1_uc001sqb.1_Missense_Mutation_p.W128L|CYP27B1_uc001sqc.1_Missense_Mutation_p.W128L	p.G248W	NM_000785	NP_000776	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	894	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		248					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.742G>T	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823524	0.71143	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.70399	-0.48;-0.48	4.89	4.89	0.63831	.	0.112759	0.64402	D	0.000010	T	0.72795	0.3505	L	0.34521	1.04	0.42452	D	0.992751	D	0.76494	0.999	D	0.74023	0.982	T	0.73949	-0.3821	10	0.59425	D	0.04	.	7.2595	0.26195	0.0:0.8194:0.0:0.1806	.	248	O15528	CP27B_HUMAN	W	248;13	ENSP00000228606:G248W;ENSP00000449472:G13W	ENSP00000228606:G248W	G	-	1	0	CYP27B1	56445109	0.996000	0.38824	0.991000	0.47740	0.882000	0.50991	2.885000	0.48570	2.543000	0.85770	0.561000	0.74099	GGG		0.622	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1		NM_000785		13	54	1	0	7.93312e-07	0.020292	8.4505e-07	13	54		
SLC6A15	55117	broad.mit.edu	37	12	85266933	85266933	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:85266933C>A	ENST00000266682.5	-	7	1583	c.1042G>T	c.(1042-1044)Gca>Tca	p.A348S	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000309283.7_Missense_Mutation_p.A56S|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A241S	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	348					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACCAATGTTGCCAGGACAGAA	0.393																																						uc001szv.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(1042-1044)GCA>TCA		solute carrier family 6, member 15 isoform 1							143.0	136.0	139.0					12																	85266933		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85266933C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1042G>T	12.37:g.85266933C>A	ENSP00000266682:p.Ala348Ser					SLC6A15_uc010sul.1_Missense_Mutation_p.A241S|SLC6A15_uc001szw.1_Missense_Mutation_p.A56S	p.A348S	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			7	1535	-			348			Helical; Name=7; (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1042G>T	CCDS9026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.450053|5.450053	0.96205|0.96205	.|.	.|.	ENSG00000072041|ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612|ENST00000551388	T;T;T;T|.	0.77620|.	-1.11;-1.11;-1.11;-1.11|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.097095|.	0.64402|.	D|.	0.000001|.	T|T	0.74921|0.74921	0.3780|0.3780	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.75484|.	0.986;0.969|.	T|T	0.76058|0.76058	-0.3098|-0.3098	10|6	0.39692|0.87932	T|D	0.17|0	.|.	19.8731|19.8731	0.96858|0.96858	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	56;348|.	F8WJN6;Q9H2J7|.	.;S6A15_HUMAN|.	S|C	56;348;64;241;56;64|42	ENSP00000311645:A56S;ENSP00000266682:A348S;ENSP00000450145:A241S;ENSP00000449263:A64S|.	ENSP00000266682:A348S|ENSP00000449619:W42C	A|W	-|-	1|3	0|0	SLC6A15|SLC6A15	83791064|83791064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.690000|2.690000	0.91761|0.91761	0.591000|0.591000	0.81541|0.81541	GCA|TGG		0.393	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1		NM_018057, NM_182767		8	56	1	0	0.00307968	0.00308	0.00313451	8	56		
RASSF9	9182	broad.mit.edu	37	12	86199049	86199049	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:86199049G>T	ENST00000361228.3	-	2	1107	c.739C>A	c.(739-741)Cta>Ata	p.L247I		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	247					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCAAGTCTAGATTTTGCTCA	0.403																																						uc001taf.1		NaN																	0				ovary(1)	1						c.(739-741)CTA>ATA		Ras association (RalGDS/AF-6) domain family							125.0	122.0	123.0					12																	86199049		1896	4124	6020	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199049G>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.739C>A	12.37:g.86199049G>T	ENSP00000354884:p.Leu247Ile						p.L247I	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	1078	-			247			Potential.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.739C>A	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	G	0.545	-0.852037	0.02651	.	.	ENSG00000198774	ENST00000361228	T	0.47528	0.84	4.84	-3.15	0.05233	.	1.665850	0.03463	U	0.212456	T	0.23014	0.0556	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.09292	-1.0681	10	0.37606	T	0.19	-5.7433	1.1477	0.01779	0.2955:0.0968:0.3323:0.2754	.	247	O75901	RASF9_HUMAN	I	247	ENSP00000354884:L247I	ENSP00000354884:L247I	L	-	1	2	RASSF9	84723180	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.156000	0.10100	-0.285000	0.09089	-0.840000	0.03056	CTA		0.403	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1				19	85	1	0	1.01871e-10	0.008871	1.11635e-10	19	85		
NTS	4922	broad.mit.edu	37	12	86272172	86272172	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:86272172G>T	ENST00000256010.6	+	3	292	c.185G>T	c.(184-186)tGc>tTc	p.C62F	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	62					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						CTAAATGTTTGCAGTCTTGTA	0.383																																						uc001tag.2		NaN																	0					0						c.(184-186)TGC>TTC		neurotensin/neuromedin N preproprotein							101.0	110.0	107.0					12																	86272172		2203	4300	6503	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86272172G>T		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.185G>T	12.37:g.86272172G>T	ENSP00000256010:p.Cys62Phe						p.C62F	NM_006183	NP_006174	P30990	NEUT_HUMAN			3	292	+			62						Missense_Mutation	SNP	ENST00000256010.6	37	c.185G>T	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760083	0.69763	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	M	0.66939	2.045	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.80989	-0.1136	9	0.87932	D	0	-13.5664	18.9347	0.92580	0.0:0.0:1.0:0.0	.	62	P30990	NEUT_HUMAN	F	62;7	.	ENSP00000256010:C62F	C	+	2	0	NTS	84796303	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.877000	0.75562	2.455000	0.83008	0.563000	0.77884	TGC		0.383	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2				21	107	1	0	1.50039e-11	0.012319	1.65477e-11	21	107		
TCP11L2	255394	broad.mit.edu	37	12	106712230	106712230	+	Silent	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:106712230A>G	ENST00000299045.3	+	4	576	c.402A>G	c.(400-402)gaA>gaG	p.E134E	TCP11L2_ENST00000547153.1_Silent_p.E134E|TCP11L2_ENST00000546625.1_Silent_p.E134E	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	134										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AACTGTTTGAAGAAATCAGAG	0.473																																						uc001tln.2		NaN																	0				ovary(3)	3						c.(400-402)GAA>GAG		t-complex 11 (mouse) like 2							142.0	121.0	128.0					12																	106712230		2203	4300	6503	SO:0001819	synonymous_variant	255394							g.chr12:106712230A>G	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.402A>G	12.37:g.106712230A>G						TCP11L2_uc001tll.2_Silent_p.E134E|TCP11L2_uc001tlm.2_Silent_p.E134E	p.E134E	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN			4	576	+			134					B2RA65|G3V1Y9	Silent	SNP	ENST00000299045.3	37	c.402A>G	CCDS9104.1																																																																																				0.473	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1		NM_152772		15	46	0	0	0	0.003163	0	15	46		
ACACB	32	broad.mit.edu	37	12	109654448	109654448	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:109654448A>G	ENST00000338432.7	+	23	3495	c.3376A>G	c.(3376-3378)Atg>Gtg	p.M1126V	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.M1126V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1126					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCGCGGCTATATGAAAACAGT	0.473																																						uc001tob.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3376-3378)ATG>GTG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						97.0	95.0	96.0					12																	109654448		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109654448A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3376A>G	12.37:g.109654448A>G	ENSP00000341044:p.Met1126Val					ACACB_uc001toc.2_Missense_Mutation_p.M1126V	p.M1126V	NM_001093	NP_001084	O00763	ACACB_HUMAN			23	3495	+			1126					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3376A>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965743	0.53507	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.42513	0.97;0.97	5.33	2.84	0.33178	Acetyl-CoA carboxylase, central domain (1);	0.037770	0.85682	D	0.000000	T	0.50394	0.1613	M	0.83012	2.62	0.80722	D	1	P	0.34662	0.462	B	0.41917	0.37	T	0.46830	-0.9163	10	0.40728	T	0.16	.	10.5638	0.45161	0.7421:0.0:0.0:0.2579	.	1126	O00763	ACACB_HUMAN	V	1126;1126;357	ENSP00000341044:M1126V;ENSP00000367079:M1126V	ENSP00000341044:M1126V	M	+	1	0	ACACB	108138831	1.000000	0.71417	0.935000	0.37517	0.953000	0.61014	6.898000	0.75676	0.374000	0.24650	0.529000	0.55759	ATG		0.473	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093		10	32	0	0	0	0.006214	0	10	32		
RASAL1	8437	broad.mit.edu	37	12	113554886	113554886	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:113554886C>T	ENST00000261729.5	-	9	1038	c.723G>A	c.(721-723)gaG>gaA	p.E241E	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.E241E|RASAL1_ENST00000546530.1_Silent_p.E241E|RASAL1_ENST00000548055.1_Silent_p.E241E			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	241					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACCCAGAATCCTCCTCGGCTC	0.607																																						uc001tum.1		NaN																	0				ovary(2)|skin(2)	4						c.(721-723)GAG>GAA		RAS protein activator like 1							46.0	45.0	46.0					12																	113554886		2203	4300	6503	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113554886C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.723G>A	12.37:g.113554886C>T						RASAL1_uc010syp.1_Silent_p.E241E|RASAL1_uc001tul.2_Silent_p.E241E|RASAL1_uc001tun.1_Silent_p.E241E|RASAL1_uc010syq.1_Silent_p.E241E|RASAL1_uc001tuo.3_Silent_p.E241E|RASAL1_uc010syr.1_Silent_p.E241E	p.E241E	NM_004658	NP_004649	O95294	RASL1_HUMAN			9	1016	-			241					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.723G>A	CCDS9165.1																																																																																				0.607	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2		NM_004658		6	24	0	0	0	0.001984	0	6	24		
TBX5	6910	broad.mit.edu	37	12	114823367	114823367	+	Silent	SNP	C	C	T	rs376519728		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:114823367C>T	ENST00000310346.4	-	7	1335	c.669G>A	c.(667-669)acG>acA	p.T223T	TBX5_ENST00000405440.2_Silent_p.T223T|TBX5_ENST00000349716.5_Silent_p.T173T|TBX5_ENST00000526441.1_Silent_p.T223T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	223					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|transcription factor binding (GO:0008134)	p.T223T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCTTTAATTGCGTGATCTGAA	0.418																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(667-669)ACG>ACA		T-box 5 isoform 1		C	,,,	0,4406		0,0,2203	106.0	94.0	98.0		669,519,669,669	0.9	1.0	12		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TBX5	NM_000192.3,NM_080717.2,NM_080718.1,NM_181486.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	223/519,173/469,223/350,223/519	114823367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114823367C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.669G>A	12.37:g.114823367C>T						TBX5_uc001tvp.2_Silent_p.T223T|TBX5_uc001tvq.2_Silent_p.T173T|TBX5_uc010syv.1_Silent_p.T223T	p.T223T	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1164	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		223			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.669G>A	CCDS9173.1																																																																																				0.418	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		NM_080717		5	23	0	0	0	0.014758	0	5	23		
DNAH10	196385	broad.mit.edu	37	12	124352470	124352470	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:124352470G>T	ENST00000409039.3	+	42	6994	c.6969G>T	c.(6967-6969)atG>atT	p.M2323I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2323					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAGCCAAGATGTTGGATGCGT	0.512																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6967-6969)ATG>ATT		dynein, axonemal, heavy chain 10							74.0	74.0	74.0					12																	124352470		1948	4140	6088	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124352470G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6969G>T	12.37:g.124352470G>T	ENSP00000386770:p.Met2323Ile						p.M2323I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	42	6994	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2323					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.6969G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918384	0.33908	.	.	ENSG00000197653	ENST00000409039	T	0.81078	-1.45	5.34	4.43	0.53597	.	0.235104	0.36482	U	0.002568	T	0.76758	0.4032	L	0.52011	1.625	0.45330	D	0.998329	B	0.09022	0.002	B	0.12156	0.007	T	0.71965	-0.4433	10	0.41790	T	0.15	.	15.8193	0.78628	0.0:0.1365:0.8635:0.0	.	2323	Q8IVF4	DYH10_HUMAN	I	2323	ENSP00000386770:M2323I	ENSP00000386770:M2323I	M	+	3	0	DNAH10	122918423	1.000000	0.71417	0.930000	0.37139	0.666000	0.39218	4.559000	0.60796	1.210000	0.43336	0.467000	0.42956	ATG		0.512	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				11	14	1	0	0.00010058	0.013537	0.0001036	11	14		
FAM101A	144347	broad.mit.edu	37	12	124798930	124798930	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:124798930C>G	ENST00000389727.3	+	3	510	c.510C>G	c.(508-510)atC>atG	p.I170M	FAM101A_ENST00000338359.4_Missense_Mutation_p.I89M|FAM101A_ENST00000546355.1_Missense_Mutation_p.I89M|FAM101A_ENST00000324038.3_Missense_Mutation_p.I89M			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	170										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACCATCATCTTCCCCAAGC	0.687																																						uc001ugd.1		NaN																	0					0						c.(265-267)ATC>ATG		hypothetical protein LOC144347							89.0	85.0	86.0					12																	124798930		2203	4299	6502	SO:0001583	missense	144347							g.chr12:124798930C>G		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.510C>G	12.37:g.124798930C>G	ENSP00000374377:p.Ile170Met					FAM101A_uc001uge.1_Missense_Mutation_p.I89M	p.I89M	NM_181709	NP_859060	Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	510	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		170					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.267C>G		.	.	.	.	.	.	.	.	.	.	C	17.83	3.486321	0.63962	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.174068	0.50627	D	0.000102	T	0.68869	0.3048	M	0.70595	2.14	0.48632	D	0.999682	D	0.55385	0.971	P	0.56042	0.79	T	0.73739	-0.3888	9	0.87932	D	0	0.3097	13.1085	0.59261	0.0:0.9191:0.0:0.0809	.	170	Q6ZTI6	F101A_HUMAN	M	89;170;89;89	.	ENSP00000315626:I89M	I	+	3	3	FAM101A	123364883	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.804000	0.38873	2.148000	0.66965	0.555000	0.69702	ATC		0.687	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_181709		28	40	0	0	0	0.008361	0	28	40		
TMEM132D	121256	broad.mit.edu	37	12	130184385	130184385	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:130184385C>G	ENST00000422113.2	-	2	1264	c.938G>C	c.(937-939)aGa>aCa	p.R313T	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	313					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTGGAATTTCTGGAGATGGA	0.502																																						uc009zyl.1		NaN																	0		p.R313G(1)		ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(937-939)AGA>ACA		transmembrane protein 132D precursor							112.0	102.0	105.0					12																	130184385		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184385C>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.938G>C	12.37:g.130184385C>G	ENSP00000408581:p.Arg313Thr						p.R313T	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1266	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	313			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.938G>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710135	0.03230	.	.	ENSG00000151952	ENST00000422113	T	0.12569	2.67	5.47	-5.71	0.02413	.	0.720360	0.12931	N	0.427351	T	0.08492	0.0211	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.32693	-0.9897	9	.	.	.	-11.8101	11.7951	0.52096	0.0:0.2722:0.0886:0.6392	.	313	Q14C87	T132D_HUMAN	T	313	ENSP00000408581:R313T	.	R	-	2	0	TMEM132D	128750338	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-0.110000	0.10824	-1.030000	0.03312	-0.312000	0.09012	AGA		0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1		NM_133448		6	39	0	0	0	0.00308	0	6	39		
N4BP2L2	10443	broad.mit.edu	37	13	33018121	33018121	+	Missense_Mutation	SNP	C	C	G	rs201479580	byFrequency	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:33018121C>G	ENST00000504114.1	-	6	599	c.508G>C	c.(508-510)Gat>Cat	p.D170H	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.D185H|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.D170H|N4BP2L2_ENST00000380121.3_5'UTR			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GGGTCCTGATCTCCCGGTGTA	0.383																																						uc010abe.1		NaN																	0					0						c.(553-555)GAT>CAT		phosphonoformate immuno-associated protein 5							60.0	53.0	55.0					13																	33018121		1851	4093	5944	SO:0001583	missense	10443							g.chr13:33018121C>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.508G>C	13.37:g.33018121C>G	ENSP00000427477:p.Asp170His					N4BP2L2_uc001uug.2_Missense_Mutation_p.D68H|N4BP2L2_uc010abd.1_Missense_Mutation_p.D98H|N4BP2L2_uc001uuh.2_Missense_Mutation_p.D16H|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.D170H	p.D185H	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	575	-		Lung SC(185;0.0262)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.553G>C		.	.	.	.	.	.	.	.	.	.	C	13.27	2.186734	0.38609	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.52057	0.68	4.89	4.04	0.47022	.	0.681287	0.13759	N	0.364694	T	0.61350	0.2340	L	0.56769	1.78	0.09310	N	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	D;D;D;D	0.68483	0.925;0.925;0.958;0.958	T	0.50372	-0.8836	10	0.72032	D	0.01	-2.5594	8.903	0.35505	0.0:0.8217:0.0:0.1783	.	170;185;68;68	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	H	68;97;170;170;185;614	ENSP00000423362:D614H	ENSP00000350104:D170H	D	-	1	0	N4BP2L2;RP11-298P3.4	31916121	0.000000	0.05858	0.006000	0.13384	0.576000	0.36127	-0.159000	0.10056	1.017000	0.39495	0.655000	0.94253	GAT		0.383	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1		NM_014887		4	9	0	0	0	0.009096	0	4	9		
KBTBD7	84078	broad.mit.edu	37	13	41766515	41766515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:41766515G>A	ENST00000379483.3	-	1	2187	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	627										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ATAAAACTCTGACCAGGTTCA	0.438																																						uc001uxw.1		NaN																	0				ovary(1)	1						c.(1879-1881)CAG>TAG		kelch repeat and BTB (POZ) domain containing 7							149.0	139.0	142.0					13																	41766515		2203	4300	6503	SO:0001587	stop_gained	84078						protein binding	g.chr13:41766515G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1879C>T	13.37:g.41766515G>A	ENSP00000368797:p.Gln627*					uc001uxv.1_Intron	p.Q627*	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2188	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	627					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Nonsense_Mutation	SNP	ENST00000379483.3	37	c.1879C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	40	8.465572	0.98822	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	.	.	.	5.59	5.59	0.84812	.	0.245646	0.34580	U	0.003844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	17.075	0.86584	0.0:0.0:1.0:0.0	.	.	.	.	X	627;529	.	ENSP00000368797:Q627X	Q	-	1	0	KBTBD7	40664515	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.983000	0.88140	2.617000	0.88574	0.563000	0.77884	CAG		0.438	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1		NM_032138		33	74	0	0	0	0.009535	0	33	74		
SLC15A1	6564	broad.mit.edu	37	13	99337111	99337111	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:99337111A>G	ENST00000376503.5	-	23	2049	c.1994T>C	c.(1993-1995)aTc>aCc	p.I665T		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	665					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCGAGCCATGATGGCAAAAAT	0.413																																						uc001vno.2		NaN																	0				ovary(1)	1						c.(1993-1995)ATC>ACC		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						75.0	67.0	70.0					13																	99337111		2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99337111A>G	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1994T>C	13.37:g.99337111A>G	ENSP00000365686:p.Ile665Thr						p.I665T	NM_005073	NP_005064	P46059	S15A1_HUMAN			23	2071	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		665			Helical; (Potential).		Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.1994T>C	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366834	0.41902	.	.	ENSG00000088386	ENST00000376503	T	0.59224	0.28	5.52	3.07	0.35406	Major facilitator superfamily domain, general substrate transporter (1);	0.173241	0.50627	D	0.000118	T	0.70307	0.3209	M	0.81802	2.56	0.80722	D	1	D	0.58970	0.984	P	0.59288	0.855	T	0.70817	-0.4769	10	0.72032	D	0.01	-4.156	9.4296	0.38601	0.8513:0.0:0.1487:0.0	.	665	P46059	S15A1_HUMAN	T	665	ENSP00000365686:I665T	ENSP00000365686:I665T	I	-	2	0	SLC15A1	98135112	1.000000	0.71417	0.994000	0.49952	0.003000	0.03518	5.617000	0.67716	0.384000	0.24942	-0.264000	0.10439	ATC		0.413	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3		NM_005073		6	45	0	0	0	0.001984	0	6	45		
MYO16	23026	broad.mit.edu	37	13	109817341	109817341	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:109817341G>A	ENST00000357550.2	+	32	5232	c.5191G>A	c.(5191-5193)Gga>Aga	p.G1731R	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.G1731R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAATAACCATGGAATTCAGTT	0.338																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(5191-5193)GGA>AGA		myosin heavy chain Myr 8							60.0	56.0	57.0					13																	109817341		2203	4298	6501	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109817341G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5191G>A	13.37:g.109817341G>A	ENSP00000350160:p.Gly1731Arg					MYO16_uc010agk.1_Missense_Mutation_p.G1753R	p.G1731R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		33	5317	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1731						Missense_Mutation	SNP	ENST00000357550.2	37	c.5191G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074696	0.55646	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	D;D	0.81659	-1.52;-1.52	5.49	5.49	0.81192	.	0.000000	0.39909	U	0.001224	T	0.77363	0.4119	L	0.57536	1.79	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.71510	-0.4571	9	.	.	.	.	16.1247	0.81383	0.0:0.0:1.0:0.0	.	1731	Q9Y6X6	MYO16_HUMAN	R	1731	ENSP00000349145:G1731R;ENSP00000350160:G1731R	.	G	+	1	0	MYO16	108615342	0.973000	0.33851	0.777000	0.31699	0.991000	0.79684	1.649000	0.37281	2.579000	0.87056	0.557000	0.71058	GGA		0.338	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		5	69	0	0	0	0.001168	0	5	69		
CDC16	8881	broad.mit.edu	37	13	115037904	115037904	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:115037904G>C	ENST00000356221.3	+	18	1957	c.1849G>C	c.(1849-1851)Gac>Cac	p.D617H	CDC16_ENST00000375312.3_Missense_Mutation_p.D472H|MIR4502_ENST00000580432.1_RNA|CDC16_ENST00000375308.1_Missense_Mutation_p.D523H|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.D616H|CDC16_ENST00000375310.1_Missense_Mutation_p.D523H|CDC16_ENST00000360383.3_Missense_Mutation_p.D617H|CDC16_ENST00000252458.6_Missense_Mutation_p.D472H			Q13042	CDC16_HUMAN	cell division cycle 16	617					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATCTATGTCAGACCACAGCAC	0.453																																						uc001vuk.1		NaN																	0					0						c.(1849-1851)GAC>CAC		anaphase-promoting complex, subunit 6							55.0	55.0	55.0					13																	115037904		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115037904G>C	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1849G>C	13.37:g.115037904G>C	ENSP00000348554:p.Asp617His					CDC16_uc001vul.1_Missense_Mutation_p.D617H|CDC16_uc001vum.1_Missense_Mutation_p.D523H|CDC16_uc001vun.1_Missense_Mutation_p.D616H|CDC16_uc001vuo.1_Missense_Mutation_p.D565H	p.D617H	NM_003903	NP_003894	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		18	2047	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	617					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.1849G>C	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757807	0.89843	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	.	.	.	5.83	5.83	0.93111	.	0.105327	0.64402	D	0.000002	T	0.65923	0.2738	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.997;0.994	T	0.62272	-0.6889	8	.	.	.	-19.2954	20.1374	0.98035	0.0:0.0:1.0:0.0	.	565;616;617	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	H	617;472;617;523;616;523;472	.	.	D	+	1	0	CDC16	114056006	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.728000	0.91484	2.763000	0.94921	0.563000	0.77884	GAC		0.453	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1		NM_003903		36	17	0	0	0	0.005524	0	36	17		
OR4K17	390436	broad.mit.edu	37	14	20586060	20586060	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr14:20586060C>T	ENST00000315543.4	+	1	495	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACTACATGACCATCATGAACA	0.453																																						uc001vwo.1		NaN																	0				skin(3)	3						c.(493-495)ACC>ACT		olfactory receptor, family 4, subfamily K,							213.0	178.0	190.0					14																	20586060		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586060C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.495C>T	14.37:g.20586060C>T							p.T165T	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	495	+	all_cancers(95;0.00108)		137			Cytoplasmic (Potential).		Q6IF12	Silent	SNP	ENST00000315543.4	37	c.495C>T	CCDS32030.1																																																																																				0.453	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1				11	95	0	0	0	0.008291	0	11	95		
OR11H4	390442	broad.mit.edu	37	14	20711554	20711554	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr14:20711554G>T	ENST00000315409.2	+	1	657	c.604G>T	c.(604-606)Gct>Tct	p.A202S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTGTGCCCCAGCTCCCATAAC	0.433																																						uc010tld.1		NaN																	0				ovary(1)	1						c.(604-606)GCT>TCT		olfactory receptor, family 11, subfamily H,							159.0	152.0	154.0					14																	20711554		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711554G>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.604G>T	14.37:g.20711554G>T	ENSP00000318997:p.Ala202Ser						p.A202S	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	604	+	all_cancers(95;0.000888)		202			Extracellular (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.604G>T	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852316	0.32699	.	.	ENSG00000176198	ENST00000315409	T	0.00048	8.82	4.78	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.118479	0.37761	N	0.001960	T	0.00109	0.0003	N	0.13140	0.3	0.24809	N	0.992657	B	0.32040	0.353	B	0.32677	0.15	T	0.12604	-1.0541	10	0.51188	T	0.08	-8.8421	6.7445	0.23454	0.2926:0.0:0.7074:0.0	.	202	Q8NGC9	O11H4_HUMAN	S	202	ENSP00000318997:A202S	ENSP00000318997:A202S	A	+	1	0	OR11H4	19781394	0.000000	0.05858	0.988000	0.46212	0.867000	0.49689	0.134000	0.15932	1.234000	0.43709	0.655000	0.94253	GCT		0.433	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1				66	98	1	0	2.01871e-26	0.01441	2.28521e-26	66	98		
FUT8	2530	broad.mit.edu	37	14	66136117	66136117	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr14:66136117A>G	ENST00000360689.5	+	7	2481	c.754A>G	c.(754-756)Act>Gct	p.T252A	FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Missense_Mutation_p.T89A|FUT8_ENST00000394585.1_Missense_Mutation_p.T252A|FUT8_ENST00000394586.2_Missense_Mutation_p.T252A|FUT8_ENST00000358307.2_Missense_Mutation_p.T123A|FUT8_ENST00000417683.1_5'Flank	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	252	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCGCTATGCTACTGGTGGATG	0.502																																						uc001xin.2		NaN																	0				ovary(1)	1						c.(754-756)ACT>GCT		fucosyltransferase 8 isoform a							198.0	169.0	179.0					14																	66136117		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66136117A>G	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.754A>G	14.37:g.66136117A>G	ENSP00000353910:p.Thr252Ala					FUT8_uc001xio.2_Missense_Mutation_p.T252A|FUT8_uc010tsp.1_Missense_Mutation_p.T89A|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T252A|FUT8_uc001xiq.2_Missense_Mutation_p.T123A|FUT8_uc001xis.2_5'Flank	p.T252A	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	7	1951	+			252			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.754A>G	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509367	0.27036	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24	5.85	5.85	0.93711	.	0.047642	0.85682	D	0.000000	D	0.82751	0.5105	L	0.44542	1.39	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.77621	-0.2519	10	0.33940	T	0.23	-13.4792	14.1942	0.65659	1.0:0.0:0.0:0.0	.	123;252	G3XAD2;Q9BYC5	.;FUT8_HUMAN	A	252;252;89;252;123	ENSP00000353910:T252A;ENSP00000378087:T252A;ENSP00000452433:T89A;ENSP00000378086:T252A;ENSP00000351057:T123A	ENSP00000345865:T252A	T	+	1	0	FUT8	65205870	1.000000	0.71417	0.998000	0.56505	0.506000	0.33950	5.794000	0.69067	2.234000	0.73211	0.533000	0.62120	ACT		0.502	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1		NM_004480		10	48	0	0	0	0.006214	0	10	48		
OR4M2	390538	broad.mit.edu	37	15	22368693	22368693	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:22368693C>A	ENST00000332663.2	+	1	216	c.118C>A	c.(118-120)Cca>Aca	p.P40T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTTCATCCTACCAGGAAATAT	0.418																																						uc010tzu.1		NaN																	0				ovary(1)	1						c.(118-120)CCA>ACA		olfactory receptor, family 4, subfamily M,							399.0	351.0	367.0					15																	22368693		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368693C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.118C>A	15.37:g.22368693C>A	ENSP00000329467:p.Pro40Thr					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.P40T	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	118	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	40			Helical; Name=1; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.118C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	8.267	0.812509	0.16537	.	.	ENSG00000182974	ENST00000332663	T	0.02158	4.42	2.5	2.5	0.30297	.	0.000000	0.46758	D	0.000270	T	0.02156	0.0067	N	0.01134	-0.995	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.51434	-0.8706	10	0.49607	T	0.09	-7.2821	7.3831	0.26868	0.0:0.7261:0.2739:0.0	.	40	Q8NGB6	OR4M2_HUMAN	T	40	ENSP00000329467:P40T	ENSP00000329467:P40T	P	+	1	0	OR4M2	19870057	0.000000	0.05858	0.966000	0.40874	0.456000	0.32438	-0.898000	0.04105	1.422000	0.47177	0.448000	0.29417	CCA		0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1				44	389	1	0	1.62957e-23	0.00874	1.83863e-23	44	389		
NPAP1	23742	broad.mit.edu	37	15	24921968	24921968	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:24921968C>G	ENST00000329468.2	+	1	1428	c.954C>G	c.(952-954)ccC>ccG	p.P318P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	318	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTGCTCCTCCCAGAGCTGCCC	0.587																																						uc001ywo.2		NaN																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(952-954)CCC>CCG		hypothetical protein LOC23742							47.0	48.0	48.0					15																	24921968		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921968C>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.954C>G	15.37:g.24921968C>G							p.P318P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1428	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	318			Pro-rich.			Silent	SNP	ENST00000329468.2	37	c.954C>G	CCDS10015.1																																																																																				0.587	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1		NM_018958		6	50	0	0	0	0.001168	0	6	50		
MAPKBP1	23005	broad.mit.edu	37	15	42113042	42113042	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:42113042G>A	ENST00000456763.2	+	24	2708	c.2512G>A	c.(2512-2514)Gtg>Atg	p.V838M	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.V832M|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.V671M|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.V832M|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.V715M	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	838										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACAGGAGTCCGTGGGGTTCCT	0.567																																						uc001zok.3		NaN																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(2512-2514)GTG>ATG		mitogen-activated protein kinase binding protein							25.0	26.0	26.0					15																	42113042		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42113042G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2512G>A	15.37:g.42113042G>A	ENSP00000393099:p.Val838Met					MAPKBP1_uc001zoj.3_Missense_Mutation_p.V832M|MAPKBP1_uc010bcj.2_Missense_Mutation_p.V339M|MAPKBP1_uc010bci.2_Missense_Mutation_p.V832M|MAPKBP1_uc010udb.1_Missense_Mutation_p.V671M|MAPKBP1_uc010bck.2_Missense_Mutation_p.V49M|MAPKBP1_uc010bcl.2_Missense_Mutation_p.V339M	p.V838M	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	24	2798	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	838					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.2512G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	5.465	0.270950	0.10349	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.40756	1.15;1.36;1.02;1.2;1.32	4.38	1.45	0.22620	.	1.409250	0.04158	N	0.322560	T	0.16811	0.0404	N	0.04508	-0.205	0.09310	N	1	B;P;B;B;B;B	0.45531	0.001;0.86;0.003;0.032;0.02;0.034	B;B;B;B;B;B	0.30251	0.002;0.113;0.002;0.016;0.003;0.011	T	0.14952	-1.0454	10	0.16896	T	0.51	0.1401	7.6328	0.28249	0.2725:0.0:0.7275:0.0	.	671;715;671;832;838;832	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	M	832;715;671;838;832	ENSP00000397570:V832M;ENSP00000221214:V715M;ENSP00000260357:V671M;ENSP00000393099:V838M;ENSP00000426154:V832M	ENSP00000221214:V715M	V	+	1	0	MAPKBP1	39900334	0.007000	0.16637	0.093000	0.20910	0.469000	0.32828	1.013000	0.29937	0.131000	0.18576	-0.812000	0.03155	GTG		0.567	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1		NM_014994		6	13	0	0	0	0.001168	0	6	13		
SCAPER	49855	broad.mit.edu	37	15	76995205	76995205	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:76995205G>C	ENST00000563290.1	-	19	2481	c.2386C>G	c.(2386-2388)Ctc>Gtc	p.L796V	SCAPER_ENST00000324767.7_Missense_Mutation_p.L796V|SCAPER_ENST00000538941.2_Missense_Mutation_p.L550V			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	796						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACATTGCAGAGAGAACACTGC	0.358																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2386-2388)CTC>GTC		S-phase cyclin A-associated protein in the ER							114.0	113.0	113.0					15																	76995205		1861	4100	5961	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76995205G>C	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2386C>G	15.37:g.76995205G>C	ENSP00000454973:p.Leu796Val					SCAPER_uc010bkr.2_Missense_Mutation_p.L104V|SCAPER_uc002bbx.2_Missense_Mutation_p.L550V|SCAPER_uc002bbz.1_Missense_Mutation_p.L667V|SCAPER_uc002bca.1_Missense_Mutation_p.L661V|SCAPER_uc002bcb.1_Missense_Mutation_p.L802V	p.L796V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			18	2445	-			795			C2H2-type.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.2386C>G	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530196	0.64860	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.24151	1.87;1.87	5.8	4.89	0.63831	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.59436	1.845	0.45621	D	0.998552	P;D;P	0.58268	0.94;0.982;0.849	P;P;P	0.62885	0.908;0.849;0.699	T	0.18398	-1.0338	10	0.38643	T	0.18	.	6.8242	0.23874	0.2909:0.0:0.7091:0.0	.	795;817;550	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	V	796;550;818	ENSP00000326924:L796V;ENSP00000442190:L550V	ENSP00000303560:L818V	L	-	1	0	SCAPER	74782260	0.996000	0.38824	1.000000	0.80357	0.982000	0.71751	2.509000	0.45459	1.451000	0.47736	0.650000	0.86243	CTC		0.358	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		17	70	0	0	0	0.00499	0	17	70		
ALPK3	57538	broad.mit.edu	37	15	85382285	85382285	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:85382285G>A	ENST00000258888.5	+	4	1152	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	329	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCAAAATATGAGATCACTCA	0.572																																						uc002ble.2		NaN																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(985-987)GAG>AAG		alpha-kinase 3							53.0	43.0	46.0					15																	85382285		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85382285G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.985G>A	15.37:g.85382285G>A	ENSP00000258888:p.Glu329Lys						p.E329K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	1152	+			329			Ig-like 1.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.985G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897685	0.52121	.	.	ENSG00000136383	ENST00000258888	T	0.65364	-0.15	4.89	0.477	0.16784	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212772	0.39020	N	0.001495	T	0.44561	0.1299	N	0.25332	0.735	0.35543	D	0.803258	B	0.25048	0.117	B	0.29524	0.103	T	0.38222	-0.9671	10	0.87932	D	0	-8.2528	5.8708	0.18802	0.1821:0.2927:0.5251:0.0	.	329	Q96L96	ALPK3_HUMAN	K	329	ENSP00000258888:E329K	ENSP00000258888:E329K	E	+	1	0	ALPK3	83183289	0.997000	0.39634	0.927000	0.36925	0.995000	0.86356	1.313000	0.33585	-0.164000	0.10927	0.491000	0.48974	GAG		0.572	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778		12	10	0	0	0	0.010729	0	12	10		
CHD2	1106	broad.mit.edu	37	15	93563489	93563489	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:93563489G>A	ENST00000394196.4	+	38	6221		c.e38+1		CHD2_ENST00000557381.1_Silent_p.R1718R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATTATGACAGGTATGCAAAAG	0.463																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.e38+1		chromodomain helicase DNA binding protein 2							63.0	57.0	59.0					15																	93563489		2197	4298	6495	SO:0001630	splice_region_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93563489G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5153+1G>A	15.37:g.93563489G>A						CHD2_uc002bso.1_Silent_p.R1718R	p.R1718_splice	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		38	5728	+	Lung NSC(78;0.00976)|all_lung(78;0.016)							C6G482|Q96IP5	Splice_Site	SNP	ENST00000394196.4	37	c.5153_splice	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582911	0.86748	.	.	ENSG00000173575	ENST00000394196	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3301	0.94283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD2	91364493	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	9.047000	0.93823	2.572000	0.86782	0.561000	0.74099	.		0.463	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271	Intron	17	26	0	0	0	0.00499	0	17	26		
PCSK6	5046	broad.mit.edu	37	15	101938656	101938656	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:101938656C>A	ENST00000348070.1	-	8	945	c.946G>T	c.(946-948)Ggg>Tgg	p.G316W	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.G151W|PCSK6_ENST00000344273.2_Missense_Mutation_p.G316W|PCSK6_ENST00000358417.3_Missense_Mutation_p.G316W|PCSK6_ENST00000398181.2_Missense_Mutation_p.G316W	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	317	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGCCGGGCCCGTCCACCGTC	0.582																																						uc002bwy.2		NaN																	0				pancreas(2)	2						c.(949-951)GGG>TGG		paired basic amino acid cleaving system 4							100.0	110.0	107.0					15																	101938656		2021	4195	6216	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101938656C>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.946G>T	15.37:g.101938656C>A	ENSP00000305056:p.Gly316Trp					PCSK6_uc010bpd.2_Missense_Mutation_p.G187W|PCSK6_uc010bpe.2_Missense_Mutation_p.G317W|PCSK6_uc002bxa.2_Missense_Mutation_p.G317W|PCSK6_uc002bxb.2_Missense_Mutation_p.G317W|PCSK6_uc002bxc.1_Missense_Mutation_p.G317W|PCSK6_uc002bxd.1_Missense_Mutation_p.G317W|PCSK6_uc002bxe.2_Missense_Mutation_p.G317W|PCSK6_uc002bxg.1_Missense_Mutation_p.G317W	p.G317W	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	1263	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		317			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.949G>T		.	.	.	.	.	.	.	.	.	.	C	19.04	3.749257	0.69533	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.29;-2.61;-2.61;-2.61	5.19	5.19	0.71726	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96520	0.9385	10	0.87932	D	0	-29.9706	18.0659	0.89390	0.0:1.0:0.0:0.0	.	317;222;316;317;316;316;317;317;316	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	W	316;316;221;316;316;151	ENSP00000305056:G316W;ENSP00000351193:G316W;ENSP00000381246:G221W;ENSP00000344410:G316W;ENSP00000381243:G316W;ENSP00000332052:G151W	ENSP00000332052:G151W	G	-	1	0	PCSK6	99756179	1.000000	0.71417	0.997000	0.53966	0.221000	0.24807	7.309000	0.78937	2.572000	0.86782	0.655000	0.94253	GGG		0.582	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_002570		15	111	1	0	6.94344e-10	0.006122	7.53671e-10	15	111		
SSTR5	6755	broad.mit.edu	37	16	1129228	1129228	+	Silent	SNP	C	C	T	rs35742768	byFrequency	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:1129228C>T	ENST00000293897.4	+	1	448	c.360C>T	c.(358-360)ggC>ggT	p.G120G	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Silent_p.G120G|SSTR5_ENST00000397547.2_Silent_p.G120G	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	120					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CGCTGGACGGCGTCAACCAGT	0.677																																						uc002ckq.2		NaN																	0				lung(1)	1						c.(358-360)GGC>GGT		somatostatin receptor 5	Octreotide(DB00104)						52.0	48.0	49.0					16																	1129228		2195	4296	6491	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129228C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.360C>T	16.37:g.1129228C>T						LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.G120G	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	448	+		Hepatocellular(780;0.00369)	120			Helical; Name=3; (Potential).		P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.360C>T	CCDS10429.1																																																																																				0.677	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1				4	38	0	0	0	0.014758	0	4	38		
RPL3L	6123	broad.mit.edu	37	16	1996698	1996698	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:1996698C>T	ENST00000268661.7	-	7	973	c.879G>A	c.(877-879)atG>atA	p.M293I		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	293					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TCCCGTCCTCCATGTGCGGGC	0.652																																						uc002cnh.2		NaN																	0					0						c.(877-879)ATG>ATA		ribosomal protein L3-like							44.0	42.0	43.0					16																	1996698		2199	4299	6498	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1996698C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.879G>A	16.37:g.1996698C>T	ENSP00000268661:p.Met293Ile						p.M293I	NM_005061	NP_005052	Q92901	RL3L_HUMAN			7	926	-			293						Missense_Mutation	SNP	ENST00000268661.7	37	c.879G>A	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	0.852	-0.738192	0.03111	.	.	ENSG00000140986	ENST00000268661	T	0.27557	1.66	4.55	3.59	0.41128	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.723916	0.14517	N	0.314705	T	0.07098	0.0180	N	0.00132	-2.035	0.31759	N	0.633577	B	0.02656	0.0	B	0.04013	0.001	T	0.12915	-1.0529	10	0.15499	T	0.54	-24.7437	11.9211	0.52793	0.0:0.9143:0.0:0.0857	.	293	Q92901	RL3L_HUMAN	I	293	ENSP00000268661:M293I	ENSP00000268661:M293I	M	-	3	0	RPL3L	1936699	0.025000	0.19082	0.265000	0.24526	0.242000	0.25591	0.578000	0.23773	1.033000	0.39918	0.561000	0.74099	ATG		0.652	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2		NM_005061		9	30	0	0	0	0.004482	0	9	30		
MEFV	4210	broad.mit.edu	37	16	3298929	3298929	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:3298929C>G	ENST00000219596.1	-	4	1375	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	MEFV_ENST00000536379.1_Missense_Mutation_p.E235Q|MEFV_ENST00000339854.4_Missense_Mutation_p.E266Q|MEFV_ENST00000541159.1_Missense_Mutation_p.E235Q	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	446	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ACTGCCTTCTCCTCCCCATAG	0.532																																						uc002cun.1		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(1336-1338)GAG>CAG		Mediterranean fever protein	Colchicine(DB01394)						199.0	168.0	178.0					16																	3298929		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3298929C>G	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1336G>C	16.37:g.3298929C>G	ENSP00000219596:p.Glu446Gln						p.E446Q	NM_000243	NP_000234	O15553	MEFV_HUMAN			4	1376	-			446					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1336G>C	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267306	0.23136	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.67698	-0.28;0.13;0.07;0.13	4.88	2.59	0.31030	.	0.672874	0.13763	N	0.364440	T	0.44829	0.1312	N	0.17474	0.49	0.09310	N	1	B	0.23735	0.09	B	0.18871	0.023	T	0.24368	-1.0162	10	0.30854	T	0.27	-37.9772	5.5496	0.17083	0.0:0.2502:0.0:0.7498	.	446	O15553	MEFV_HUMAN	Q	446;446;266;235;235;235	ENSP00000219596:E446Q;ENSP00000339639:E266Q;ENSP00000438711:E235Q;ENSP00000445079:E235Q	ENSP00000219596:E446Q	E	-	1	0	MEFV	3238930	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.469000	0.22067	0.442000	0.26555	-0.471000	0.05019	GAG		0.532	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1		NM_000243		20	128	0	0	0	0.007413	0	20	128		
ZC3H7A	29066	broad.mit.edu	37	16	11850213	11850213	+	Silent	SNP	C	C	T	rs200304212		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:11850213C>T	ENST00000396516.2	-	20	2639	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	ZC3H7A_ENST00000355758.4_Silent_p.E814E|ZC3H7A_ENST00000575984.1_Silent_p.E10E			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	814						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CGTAAAATTGCTCCATATCTT	0.338																																						uc002dbk.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2440-2442)GAG>GAA		zinc finger CCCH-type containing 7A							165.0	149.0	154.0					16																	11850213		2197	4300	6497	SO:0001819	synonymous_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11850213C>T	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2442G>A	16.37:g.11850213C>T						ZC3H7A_uc002dbi.2_Silent_p.E2E|ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Silent_p.E814E|ZC3H7A_uc002dbm.1_Silent_p.E724E	p.E814E	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN			20	2640	-			814					D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	c.2442G>A	CCDS10550.1																																																																																				0.338	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1		NM_014153		14	35	0	0	0	0.016723	0	14	35		
ZP2	7783	broad.mit.edu	37	16	21211121	21211121	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:21211121C>T	ENST00000574002.1	-	16	2255	c.1773G>A	c.(1771-1773)caG>caA	p.Q591Q	ZP2_ENST00000219593.4_Silent_p.Q591Q|ZP2_ENST00000574091.1_Silent_p.Q582Q|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	591	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGTCAAACCTCTGATAGTGAT	0.502																																						uc002dii.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1771-1773)CAG>CAA		zona pellucida glycoprotein 2 preproprotein							108.0	102.0	104.0					16																	21211121		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21211121C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1773G>A	16.37:g.21211121C>T						ZP2_uc010bwn.1_Silent_p.Q621Q	p.Q591Q	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	15	1773	-			591			Extracellular (Potential).|ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.1773G>A	CCDS10596.1																																																																																				0.502	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2				22	39	0	0	0	0.014323	0	22	39		
DPEP2	64174	broad.mit.edu	37	16	68021779	68021779	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:68021779C>T	ENST00000572888.1	-	9	1832	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	DPEP2_ENST00000393847.1_Silent_p.L394L|DPEP2_ENST00000412757.2_Silent_p.L394L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	394					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGAAGACCCGCAGCAGGTTTC	0.567																																						uc010cey.2		NaN																	0				skin(1)	1						c.(1180-1182)CTG>CTA		dipeptidase 2 precursor							129.0	129.0	129.0					16																	68021779		2198	4300	6498	SO:0001819	synonymous_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021779C>T	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1182G>A	16.37:g.68021779C>T						DPEP2_uc002evd.3_Silent_p.L399L|DPEP2_uc002eve.2_Silent_p.L394L|DPEP2_uc002evf.2_RNA	p.L394L	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	9	1346	-		Ovarian(137;0.192)	394					B2RCF8|Q6UX92|Q8TC95	Silent	SNP	ENST00000572888.1	37	c.1182G>A	CCDS10857.1																																																																																				0.567	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1		NM_022355		30	186	0	0	0	0.009535	0	30	186		
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(73)|p.S241C(24)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.C242fs*5(6)|p.S241A(6)|p.S241del(5)|p.S241T(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.S241_G245delSCMGG(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)TCC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							139.0	108.0	118.0					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.S241F|TP53_uc002gih.2_Missense_Mutation_p.S241F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.S109F|TP53_uc010cng.1_Missense_Mutation_p.S109F|TP53_uc002gii.1_Missense_Mutation_p.S109F|TP53_uc010cnh.1_Missense_Mutation_p.S241F|TP53_uc010cni.1_Missense_Mutation_p.S241F|TP53_uc002gij.2_Missense_Mutation_p.S241F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S148F|TP53_uc002gio.2_Missense_Mutation_p.S109F	p.S241F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	916	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		13	21	0	0	0	0.013537	0	13	21		
MYH13	8735	broad.mit.edu	37	17	10216603	10216603	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:10216603A>T	ENST00000418404.3	-	29	4216	c.4053T>A	c.(4051-4053)taT>taA	p.Y1351*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.Y1351*|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1351					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTCCTCCTCATACTGTTCCC	0.602																																						uc002gmk.1		NaN																	0				ovary(4)|skin(2)	6						c.(4051-4053)TAT>TAA		myosin, heavy polypeptide 13, skeletal muscle							139.0	126.0	130.0					17																	10216603		2203	4300	6503	SO:0001587	stop_gained	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216603A>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4053T>A	17.37:g.10216603A>T	ENSP00000404570:p.Tyr1351*						p.Y1351*	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			30	4143	-			1351			Potential.		O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	c.4053T>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	43	10.151923	0.99348	.	.	ENSG00000006788	ENST00000252172	.	.	.	3.95	-5.95	0.02241	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2811	0.54765	0.5222:0.0:0.4778:0.0	.	.	.	.	X	1351	.	ENSP00000252172:Y1351X	Y	-	3	2	MYH13	10157328	0.135000	0.22499	0.936000	0.37596	0.973000	0.67179	-0.214000	0.09292	-1.384000	0.02103	0.374000	0.22700	TAT		0.602	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		19	80	0	0	0	0.010504	0	19	80		
SLC35G3	146861	broad.mit.edu	37	17	33520951	33520951	+	Missense_Mutation	SNP	G	G	A	rs530351643		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:33520951G>A	ENST00000297307.5	-	1	461	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	126	EamA 1.					integral component of membrane (GO:0016021)											TTGCCAGCGGGCACCACCTGA	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17472	0.0		0.0	False		,,,				2504	0.0					uc002hjd.2		NaN																	0					0						c.(376-378)CCC>TCC		acyl-malonyl condensing enzyme 1							121.0	121.0	121.0					17																	33520951		2203	4298	6501	SO:0001583	missense	146861					integral to membrane		g.chr17:33520951G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.376C>T	17.37:g.33520951G>A	ENSP00000297307:p.Pro126Ser						p.P126S	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	462	-			126			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.376C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	9.110	1.006206	0.19199	.	.	ENSG00000164729	ENST00000297307	T	0.70749	-0.51	.	.	.	.	0.000000	0.47455	D	0.000224	T	0.57315	0.2045	L	0.34521	1.04	0.37386	D	0.912242	P	0.42296	0.775	B	0.43658	0.426	T	0.55704	-0.8099	9	0.49607	T	0.09	-7.794	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	126	Q8N808	S35G3_HUMAN	S	126	ENSP00000297307:P126S	ENSP00000297307:P126S	P	-	1	0	SLC35G3	30545064	1.000000	0.71417	0.160000	0.22671	0.161000	0.22273	2.804000	0.47931	0.064000	0.16427	0.064000	0.15345	CCC		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2		NM_152462		93	156	0	0	0	0.01441	0	93	156		
MYO19	80179	broad.mit.edu	37	17	34864917	34864917	+	Silent	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:34864917C>A	ENST00000431794.3	-	14	1737	c.1215G>T	c.(1213-1215)tcG>tcT	p.S405S	MYO19_ENST00000268852.9_Silent_p.S405S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	405	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGTGGTCCACGAGTCGGTGT	0.547																																						uc010wcy.1		NaN																	0				ovary(1)	1						c.(1213-1215)TCG>TCT		myosin XIX isoform 2							56.0	58.0	58.0					17																	34864917		2035	4200	6235	SO:0001819	synonymous_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34864917C>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1215G>T	17.37:g.34864917C>A						MYO19_uc002hmw.2_Silent_p.S405S|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	p.S405S	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	15	2207	-		Breast(25;0.00957)|Ovarian(249;0.17)	405			Myosin head-like.		Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	c.1215G>T	CCDS54112.1																																																																																				0.547	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1		NM_025109		12	17	1	0	9.05144e-12	0.016723	1.00474e-11	12	17		
GPATCH8	23131	broad.mit.edu	37	17	42476849	42476849	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:42476849A>T	ENST00000591680.1	-	8	2626	c.2596T>A	c.(2596-2598)Tcc>Acc	p.S866T	GPATCH8_ENST00000434000.1_Missense_Mutation_p.S788T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	866	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAACGCCGGGAGGAACGATGC	0.537																																						uc002igw.1		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(2596-2598)TCC>ACC		G patch domain containing 8							138.0	124.0	129.0					17																	42476849		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476849A>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2596T>A	17.37:g.42476849A>T	ENSP00000467556:p.Ser866Thr					GPATCH8_uc002igv.1_Missense_Mutation_p.S788T|GPATCH8_uc010wiz.1_Missense_Mutation_p.S788T	p.S866T	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	2660	-		Prostate(33;0.0181)	866			Ser-rich.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.2596T>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	A	7.990	0.753168	0.15778	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.14516	2.5	5.21	5.21	0.72293	.	0.138081	0.51477	D	0.000094	T	0.07728	0.0194	N	0.14661	0.345	0.34450	D	0.700617	P	0.52842	0.956	B	0.40940	0.344	T	0.27262	-1.0079	10	0.11485	T	0.65	-14.5415	12.6971	0.57010	1.0:0.0:0.0:0.0	.	866	Q9UKJ3	GPTC8_HUMAN	T	866;788	ENSP00000395016:S788T	ENSP00000335486:S866T	S	-	1	0	GPATCH8	39832375	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	6.284000	0.72652	2.193000	0.70182	0.459000	0.35465	TCC		0.537	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		NM_001002909		35	93	0	0	0	0.017118	0	35	93		
ICT1	3396	broad.mit.edu	37	17	73016618	73016618	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:73016618C>G	ENST00000301585.5	+	5	415	c.402C>G	c.(400-402)atC>atG	p.I134M		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	134					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAGAGTTGATCCTCACCTCTG	0.468																																						uc002jmm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(400-402)ATC>ATG		immature colon carcinoma transcript 1 precursor							57.0	59.0	58.0					17																	73016618		2203	4300	6503	SO:0001583	missense	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73016618C>G	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.402C>G	17.37:g.73016618C>G	ENSP00000301585:p.Ile134Met						p.I134M	NM_001545	NP_001536	Q14197	ICT1_HUMAN			5	404	+	all_lung(278;0.226)		134					B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	c.402C>G	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304598	0.60305	.	.	ENSG00000167862	ENST00000301585	T	0.32988	1.43	5.77	-10.2	0.00374	Peptide chain release factor class I/class II (1);	0.114726	0.64402	D	0.000012	T	0.34716	0.0907	L	0.52206	1.635	0.25453	N	0.987981	D	0.61080	0.989	P	0.62491	0.903	T	0.51647	-0.8679	10	0.66056	D	0.02	-10.5188	12.3331	0.55051	0.1882:0.5471:0.0:0.2647	.	134	Q14197	ICT1_HUMAN	M	134	ENSP00000301585:I134M	ENSP00000301585:I134M	I	+	3	3	ICT1	70528213	0.001000	0.12720	0.724000	0.30704	0.983000	0.72400	-2.213000	0.01224	-1.312000	0.02306	-0.397000	0.06425	ATC		0.468	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1		NM_001545		10	61	0	0	0	0.008291	0	10	61		
ITGB4	3691	broad.mit.edu	37	17	73738530	73738530	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:73738530C>G	ENST00000200181.3	+	24	2929	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	ITGB4_ENST00000449880.2_Silent_p.L914L|ITGB4_ENST00000339591.3_Silent_p.L914L|ITGB4_ENST00000579662.1_Silent_p.L914L|ITGB4_ENST00000450894.3_Silent_p.L914L|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	914					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCACGACCTCAAGGTGGCCC	0.657																																						uc002jpg.2		NaN																	0				lung(4)	4						c.(2740-2742)CTC>CTG		integrin beta 4 isoform 1 precursor							47.0	33.0	38.0					17																	73738530		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73738530C>G		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2742C>G	17.37:g.73738530C>G						ITGB4_uc002jph.2_Silent_p.L914L|ITGB4_uc002jpi.3_Silent_p.L914L|ITGB4_uc010dgp.1_Missense_Mutation_p.Q927E|ITGB4_uc002jpj.2_Silent_p.L914L	p.L914L	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		24	2929	+	all_cancers(13;1.5e-07)		914			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.2742C>G	CCDS11727.1																																																																																				0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1				8	14	0	0	0	0.00308	0	8	14		
GAA	2548	broad.mit.edu	37	17	78082619	78082619	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:78082619A>G	ENST00000302262.3	+	8	1537	c.1318A>G	c.(1318-1320)Atg>Gtg	p.M440V	GAA_ENST00000390015.3_Missense_Mutation_p.M440V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	440					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GCGCTACATGATGATCGTGGT	0.642																																						uc002jxo.2		NaN																	0				ovary(1)	1						c.(1318-1320)ATG>GTG		acid alpha-glucosidase preproprotein	Acarbose(DB00284)						20.0	18.0	19.0					17																	78082619		2191	4295	6486	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78082619A>G		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1318A>G	17.37:g.78082619A>G	ENSP00000305692:p.Met440Val					GAA_uc002jxp.2_Missense_Mutation_p.M440V|GAA_uc002jxq.2_Missense_Mutation_p.M440V	p.M440V	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		9	1500	+	all_neural(118;0.117)		440					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.1318A>G	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	A	8.634	0.894412	0.17613	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.92299	-3.01;-3.01	4.55	4.55	0.56014	Glycoside hydrolase, superfamily (1);	0.048575	0.85682	D	0.000000	D	0.84252	0.5431	N	0.13003	0.285	0.33359	D	0.572111	B	0.25486	0.127	B	0.30401	0.115	T	0.81775	-0.0778	10	0.12103	T	0.63	-44.8872	13.8787	0.63670	1.0:0.0:0.0:0.0	.	440	P10253	LYAG_HUMAN	V	440	ENSP00000305692:M440V;ENSP00000374665:M440V	ENSP00000305692:M440V	M	+	1	0	GAA	75697214	1.000000	0.71417	0.996000	0.52242	0.023000	0.10783	4.186000	0.58337	1.674000	0.50907	0.379000	0.24179	ATG		0.642	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1				7	11	0	0	0	0.006214	0	7	11		
RNF213	57674	broad.mit.edu	37	17	78321834	78321834	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:78321834C>T	ENST00000582970.1	+	29	9842	c.9699C>T	c.(9697-9699)gtC>gtT	p.V3233V	RNF213_ENST00000508628.2_Silent_p.V3282V|RNF213_ENST00000336301.6_Silent_p.V1306V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3233					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCTGCAGGTCATAGAGAGGC	0.582																																						uc002jyh.1		NaN																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(3916-3918)GTC>GTT		ring finger protein 213							58.0	55.0	56.0					17																	78321834		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78321834C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9699C>T	17.37:g.78321834C>T							p.V1306V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	4141	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.3918C>T	CCDS58606.1																																																																																				0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		21	66	0	0	0	0.01892	0	21	66		
RPTOR	57521	broad.mit.edu	37	17	78519560	78519560	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:78519560C>G	ENST00000306801.3	+	1	493	c.131C>G	c.(130-132)tCc>tGc	p.S44C	RPTOR_ENST00000570891.1_Missense_Mutation_p.S44C|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S44C	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	44					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCTCCAAATCCTTAGCTCAG	0.478																																						uc002jyt.1		NaN																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(130-132)TCC>TGC		raptor isoform 1							90.0	97.0	95.0					17																	78519560		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78519560C>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.131C>G	17.37:g.78519560C>G	ENSP00000307272:p.Ser44Cys					RPTOR_uc002jys.2_Missense_Mutation_p.S44C|RPTOR_uc010wuf.1_Translation_Start_Site|RPTOR_uc010wug.1_Missense_Mutation_p.S44C|RPTOR_uc002jyr.1_Missense_Mutation_p.S44C	p.S44C	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			1	936	+			44					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.131C>G	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623072	0.46840	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.45276	0.9;0.9	3.87	3.87	0.44632	.	0.087086	0.47852	D	0.000211	T	0.36799	0.0980	N	0.02202	-0.64	0.80722	D	1	P;B;D	0.76494	0.729;0.138;0.999	P;B;D	0.65573	0.627;0.088;0.936	T	0.53697	-0.8402	10	0.37606	T	0.19	.	16.0285	0.80560	0.0:1.0:0.0:0.0	.	44;44;44	F5H7J5;Q8N122;B7Z3S8	.;RPTOR_HUMAN;.	C	44	ENSP00000307272:S44C;ENSP00000442479:S44C	ENSP00000307272:S44C	S	+	2	0	RPTOR	76134155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.885000	0.75606	1.990000	0.58119	0.561000	0.74099	TCC		0.478	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1		NM_020761		20	91	0	0	0	0.010504	0	20	91		
ANKRD30B	374860	broad.mit.edu	37	18	14851705	14851705	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr18:14851705A>T	ENST00000358984.4	+	36	3585	c.3405A>T	c.(3403-3405)aaA>aaT	p.K1135N		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1135										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAAACAGAAAACAGTAACAA	0.358																																						uc010dlo.2		NaN																	0				ovary(1)|skin(1)	2						c.(3403-3405)AAA>AAT		ankyrin repeat domain 30B							52.0	41.0	44.0					18																	14851705		692	1590	2282	SO:0001583	missense	374860							g.chr18:14851705A>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3405A>T	18.37:g.14851705A>T	ENSP00000351875:p.Lys1135Asn					ANKRD30B_uc010xal.1_Missense_Mutation_p.K277N	p.K1135N	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			36	3585	+			1220			Potential.		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3405A>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	A	4.198	0.035533	0.08148	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.14766	2.48	1.39	1.39	0.22231	.	.	.	.	.	T	0.08358	0.0208	L	0.40543	1.245	0.80722	D	1	P;P	0.39809	0.563;0.689	B;B	0.25987	0.03;0.065	T	0.22977	-1.0201	9	0.87932	D	0	.	6.8687	0.24108	1.0:0.0:0.0:0.0	.	1220;1135	Q9BXX2;F8WAG3	AN30B_HUMAN;.	N	1135;529;555	ENSP00000351875:K1135N	ENSP00000277669:K555N	K	+	3	2	ANKRD30B	14841705	1.000000	0.71417	0.156000	0.22583	0.073000	0.16967	1.393000	0.34497	0.889000	0.36185	0.145000	0.16022	AAA		0.358	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1		NM_001145029		19	22	0	0	0	0.007413	0	19	22		
TAF4B	6875	broad.mit.edu	37	18	23854694	23854694	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr18:23854694T>A	ENST00000269142.5	+	4	1663	c.665T>A	c.(664-666)cTg>cAg	p.L222Q	TAF4B_ENST00000578121.1_Missense_Mutation_p.L222Q|TAF4B_ENST00000400466.2_Missense_Mutation_p.L222Q	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	222					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GTAACTACCCTGAAGCCTTCA	0.428																																						uc002kvu.3		NaN																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(664-666)CTG>CAG		TAF4b RNA polymerase II, TATA box binding							154.0	147.0	149.0					18																	23854694		1888	4119	6007	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23854694T>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.665T>A	18.37:g.23854694T>A	ENSP00000269142:p.Leu222Gln					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.L222Q	p.L222Q	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		4	1154	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		222					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.665T>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	T	8.539	0.872761	0.17322	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.23754	1.89;1.9;1.89	5.81	4.62	0.57501	.	0.376632	0.23764	N	0.044782	T	0.18383	0.0441	L	0.31664	0.95	0.27389	N	0.955186	P;P	0.50710	0.938;0.933	P;P	0.45577	0.48;0.486	T	0.05599	-1.0875	10	0.13470	T	0.59	-2.7593	7.0489	0.25061	0.0:0.0746:0.1497:0.7757	.	222;222	Q92750;A4PBF7	TAF4B_HUMAN;.	Q	222	ENSP00000389365:L222Q;ENSP00000269142:L222Q;ENSP00000383314:L222Q	ENSP00000269142:L222Q	L	+	2	0	TAF4B	22108692	0.956000	0.32656	0.868000	0.34077	0.301000	0.27625	1.545000	0.36169	0.992000	0.38840	0.533000	0.62120	CTG		0.428	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3		NM_005640		16	101	0	0	0	0.004007	0	16	101		
SYT4	6860	broad.mit.edu	37	18	40851713	40851713	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr18:40851713G>C	ENST00000255224.3	-	3	1302	c.934C>G	c.(934-936)Cga>Gga	p.R312G	SYT4_ENST00000590752.1_Missense_Mutation_p.R294G|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	312	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCAGATGTCGAGCTTTTAAG	0.413																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NaN																	0				skin(5)	5						c.(934-936)CGA>GGA		synaptotagmin IV							139.0	131.0	134.0					18																	40851713		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40851713G>C	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.934C>G	18.37:g.40851713G>C	ENSP00000255224:p.Arg312Gly					SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.R294G|SYT4_uc010dnh.2_Intron	p.R312G	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			3	1303	-			312			C2 2.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.934C>G	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236927	0.58886	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.71341	-0.56	5.52	3.73	0.42828	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87888	0.6291	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90750	0.4656	10	0.87932	D	0	.	14.5712	0.68213	0.0:0.0:0.5556:0.4444	.	294;312	B4DEU3;Q9H2B2	.;SYT4_HUMAN	G	312;117	ENSP00000255224:R312G	ENSP00000255224:R312G	R	-	1	2	SYT4	39105711	1.000000	0.71417	0.950000	0.38849	0.786000	0.44442	3.413000	0.52686	0.806000	0.34183	-1.022000	0.02435	CGA		0.413	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2		NM_020783		12	65	0	0	0	0.010729	0	12	65		
C3	718	broad.mit.edu	37	19	6679429	6679429	+	Missense_Mutation	SNP	C	C	T	rs142868256		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:6679429C>T	ENST00000245907.6	-	37	4627	c.4535G>A	c.(4534-4536)cGc>cAc	p.R1512H	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1512					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCAGCACAGCGGCACAGTTC	0.572																																						uc002mfm.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(4534-4536)CGC>CAC		complement component 3 precursor			HIS/ARG	0,4406		0,0,2203	187.0	178.0	181.0		4535	4.6	1.0	19	dbSNP_134	181	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C3	NM_000064.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	1512/1664	6679429	3,13003	2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6679429C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4535G>A	19.37:g.6679429C>T	ENSP00000245907:p.Arg1512His					C3_uc002mfl.2_Missense_Mutation_p.R248H	p.R1512H	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	37	4597	-			1512					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4535G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045111	0.36085	0.0	3.49E-4	ENSG00000125730	ENST00000245907	T	0.59083	0.29	5.64	4.6	0.57074	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Alpha-macroglobulin, receptor-binding (1);	0.260767	0.42294	D	0.000737	T	0.54775	0.1879	M	0.75085	2.285	0.32721	N	0.510273	P	0.50443	0.935	B	0.36959	0.237	T	0.69946	-0.5007	10	0.38643	T	0.18	.	14.8418	0.70230	0.1454:0.8546:0.0:0.0	.	1512	P01024	CO3_HUMAN	H	1512	ENSP00000245907:R1512H	ENSP00000245907:R1512H	R	-	2	0	C3	6630429	0.997000	0.39634	1.000000	0.80357	0.662000	0.39071	3.196000	0.51020	1.377000	0.46286	-0.300000	0.09419	CGC		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064		38	77	0	0	0	0.006999	0	38	77		
MUC16	94025	broad.mit.edu	37	19	9090928	9090928	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:9090928G>A	ENST00000397910.4	-	1	1090	c.887C>T	c.(886-888)tCa>tTa	p.S296L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	296	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						GCTGGTCTCTGATATTTTATT	0.517																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(886-888)TCA>TTA		mucin 16							121.0	122.0	122.0					19																	9090928		1988	4182	6170	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090928G>A	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.887C>T	19.37:g.9090928G>A	ENSP00000381008:p.Ser296Leu						p.S296L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1091	-			296			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.887C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.171	0.217199	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.34	1.34	0.21922	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	.	.	.	D	0.55172	0.97	P	0.46275	0.51	T	0.45614	-0.9249	8	0.87932	D	0	.	6.1523	0.20318	0.0:0.0:1.0:0.0	.	296	B5ME49	.	L	296	ENSP00000381008:S296L	ENSP00000381008:S296L	S	-	2	0	MUC16	8951928	0.006000	0.16342	0.002000	0.10522	0.086000	0.17979	2.104000	0.41815	1.063000	0.40649	0.306000	0.20318	TCA		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		43	46	0	0	0	0.011902	0	43	46		
ILF3	3609	broad.mit.edu	37	19	10798322	10798322	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:10798322C>T	ENST00000590261.1	+	17	2360	c.2360C>T	c.(2359-2361)tCg>tTg	p.S787L	ILF3_ENST00000318511.3_Missense_Mutation_p.S787L|ILF3_ENST00000449870.1_Missense_Mutation_p.S791L|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000588657.1_Missense_Mutation_p.S791L			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	787	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACTCCTACTCGAACTCCTAC	0.597																																						uc002mpn.2		NaN																	0				ovary(3)	3						c.(2359-2361)TCG>TTG		interleukin enhancer binding factor 3 isoform a							44.0	50.0	48.0					19																	10798322		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10798322C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2360C>T	19.37:g.10798322C>T	ENSP00000468156:p.Ser787Leu					ILF3_uc002mpo.2_Missense_Mutation_p.S791L|ILF3_uc002mpq.2_Nonsense_Mutation_p.R90*	p.S787L	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		18	2677	+			787			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2360C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977615	0.53720	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.16597	2.33;2.34	4.83	3.8	0.43715	.	0.287422	0.34156	N	0.004214	T	0.10809	0.0264	L	0.32530	0.975	0.80722	D	1	P;P	0.37398	0.593;0.458	B;B	0.25614	0.062;0.028	T	0.14615	-1.0466	10	0.33141	T	0.24	.	11.9516	0.52959	0.0:0.9148:0.0:0.0852	.	791;787	G5E9M5;Q12906	.;ILF3_HUMAN	L	791;787	ENSP00000404121:S791L;ENSP00000315205:S787L	ENSP00000315205:S787L	S	+	2	0	ILF3	10659322	0.999000	0.42202	0.947000	0.38551	0.949000	0.60115	5.384000	0.66225	1.259000	0.44117	0.655000	0.94253	TCG		0.597	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1				21	14	0	0	0	0.008871	0	21	14		
DDA1	79016	broad.mit.edu	37	19	17426805	17426805	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:17426805G>T	ENST00000359866.4	+	4	322		c.e4+1			NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1											kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						GGACAAAAAGGTGAGGCCCAC	0.552																																						uc002ngd.2		NaN																	0				ovary(1)	1						c.e4+1		DET1 and DDB1 associated 1							157.0	157.0	157.0					19																	17426805		2203	4300	6503	SO:0001630	splice_region_variant	79016							g.chr19:17426805G>T	BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.198+1G>T	19.37:g.17426805G>T						DDA1_uc002nge.2_Splice_Site_p.E5_splice	p.K66_splice	NM_024050	NP_076955	Q9BW61	DDA1_HUMAN			4	325	+									Splice_Site	SNP	ENST00000359866.4	37	c.198_splice	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618040	0.66787	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDA1	17287805	1.000000	0.71417	0.977000	0.42913	0.708000	0.40852	9.425000	0.97467	2.054000	0.61138	0.555000	0.69702	.		0.552	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1		NM_024050	Intron	34	175	1	0	3.90053e-15	0.012213	4.34377e-15	34	175		
ZNF486	90649	broad.mit.edu	37	19	20308312	20308312	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:20308312C>A	ENST00000335117.8	+	4	850	c.793C>A	c.(793-795)Ccc>Acc	p.P265T	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGAGAGAAACCCTACATTTG	0.368																																						uc002nou.2		NaN																	0				ovary(1)	1						c.(793-795)CCC>ACC		zinc finger protein 486							38.0	42.0	41.0					19																	20308312		2138	4272	6410	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308312C>A	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.793C>A	19.37:g.20308312C>A	ENSP00000335042:p.Pro265Thr						p.P265T	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			4	850	+			265					Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.793C>A	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	c	8.399	0.841583	0.16963	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.28895	1.59	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41880	0.1178	M	0.73598	2.24	0.35999	D	0.837279	P	0.49358	0.923	P	0.53360	0.724	T	0.51545	-0.8692	9	0.72032	D	0.01	.	6.9971	0.24789	0.0:1.0:0.0:0.0	.	265	Q96H40	ZN486_HUMAN	T	304;265	ENSP00000335042:P265T	ENSP00000335042:P265T	P	+	1	0	ZNF486	20169312	1.000000	0.71417	0.025000	0.17156	0.025000	0.11179	5.323000	0.65858	0.192000	0.20272	0.195000	0.17529	CCC		0.368	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2		NM_052852		7	31	1	0	0.00198382	0.001984	0.00202515	7	31		
ZNF486	90649	broad.mit.edu	37	19	20308324	20308324	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:20308324G>A	ENST00000335117.8	+	4	862	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CTACATTTGTGAAGAATGTGG	0.373																																						uc002nou.2		NaN																	0				ovary(1)	1						c.(805-807)GAA>AAA		zinc finger protein 486							40.0	44.0	42.0					19																	20308324		2137	4272	6409	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308324G>A	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.805G>A	19.37:g.20308324G>A	ENSP00000335042:p.Glu269Lys						p.E269K	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			4	862	+			269			C2H2-type 4.		Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.805G>A	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	a	4.368	0.067793	0.08436	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.07216	3.21	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.17594	0.5	0.09310	N	1	B	0.22541	0.071	B	0.33960	0.173	T	0.49447	-0.8939	9	0.14656	T	0.56	.	3.2487	0.06806	0.3464:0.0:0.6536:0.0	.	269	Q96H40	ZN486_HUMAN	K	308;269	ENSP00000335042:E269K	ENSP00000335042:E269K	E	+	1	0	ZNF486	20169324	0.000000	0.05858	0.033000	0.17914	0.033000	0.12548	-2.431000	0.01023	0.192000	0.20272	0.195000	0.17529	GAA		0.373	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2		NM_052852		8	35	0	0	0	0.00308	0	8	35		
ZNF681	148213	broad.mit.edu	37	19	23927544	23927544	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:23927544T>C	ENST00000402377.3	-	4	949	c.808A>G	c.(808-810)Aca>Gca	p.T270A	ZNF681_ENST00000395385.3_Missense_Mutation_p.T201A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	270					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTATGTGTTGTAATGTGTGAC	0.353																																						uc002nrk.3		NaN																	0					0						c.(808-810)ACA>GCA		zinc finger protein 681							133.0	137.0	136.0					19																	23927544		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927544T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.808A>G	19.37:g.23927544T>C	ENSP00000384000:p.Thr270Ala					ZNF681_uc002nrl.3_Missense_Mutation_p.T201A|ZNF681_uc002nrj.3_Missense_Mutation_p.T201A	p.T270A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	950	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	270			C2H2-type 4; degenerate.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.808A>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	10.30	1.312652	0.23908	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.15256	2.44;2.44	1.64	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.08268	0.0206	L	0.38838	1.175	0.09310	N	1	P	0.41498	0.752	B	0.31016	0.123	T	0.32877	-0.9890	9	0.21540	T	0.41	.	4.8607	0.13583	0.46:0.0:0.0:0.54	.	270	Q96N22	ZN681_HUMAN	A	270;201	ENSP00000384000:T270A;ENSP00000378783:T201A	ENSP00000378783:T201A	T	-	1	0	ZNF681	23719384	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.377000	0.07456	-0.164000	0.10927	0.383000	0.25322	ACA		0.353	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2		NM_138286		17	47	0	0	0	0.004007	0	17	47		
ARHGAP33	115703	broad.mit.edu	37	19	36278140	36278140	+	Silent	SNP	G	G	A	rs200811520	byFrequency	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:36278140G>A	ENST00000007510.4	+	21	2817	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P	ARHGAP33_ENST00000378944.5_Silent_p.P755P|ARHGAP33_ENST00000314737.5_Silent_p.P730P|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	891	Poly-Pro.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCCACCCCCGCCCCCTAAGA	0.657													G|||	3	0.000599042	0.0	0.0014	5008	,	,		10874	0.001		0.001	False		,,,				2504	0.0					uc002obs.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(2188-2190)CCG>CCA		sorting nexin 26		G	,	0,4308		0,0,2154	16.0	22.0	20.0		2265,2190	-9.3	0.6	19		20	1,8387		0,1,4193	no	coding-synonymous,coding-synonymous	ARHGAP33	NM_001172630.1,NM_052948.3	,	0,1,6347	AA,AG,GG		0.0119,0.0,0.0079	,	755/1124,730/1127	36278140	1,12695	2154	4194	6348	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278140G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2673G>A	19.37:g.36278140G>A						ARHGAP33_uc002obt.1_Silent_p.P755P|ARHGAP33_uc010eel.2_Silent_p.P479P|ARHGAP33_uc002obv.1_Silent_p.P479P	p.P730P	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	2275	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.2190G>A																																																																																					0.657	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding			NM_052948		41	17	0	0	0	0.007835	0	41	17		
SPTBN4	57731	broad.mit.edu	37	19	41076526	41076526	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:41076526A>T	ENST00000352632.3	+	33	7297	c.7211A>T	c.(7210-7212)cAg>cTg	p.Q2404L	SPTBN4_ENST00000392025.1_Missense_Mutation_p.Q1147L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.Q2404L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2404					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)			gccccggcccagggcggctcc	0.786																																						uc002ony.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(7210-7212)CAG>CTG		spectrin, beta, non-erythrocytic 4 isoform							3.0	3.0	3.0					19																	41076526		1700	3455	5155	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.chr19:41076526A>T	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.7211A>T	19.37:g.41076526A>T	ENSP00000263373:p.Gln2404Leu					SPTBN4_uc002onz.2_Missense_Mutation_p.Q2404L|SPTBN4_uc010egx.2_Missense_Mutation_p.Q1147L	p.Q2404L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		33	7297	+			2404					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.7211A>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578680	0.65878	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.77358	-1.09;0.26	4.33	3.32	0.38043	.	0.000000	0.53938	U	0.000051	T	0.64170	0.2574	N	0.24115	0.695	0.80722	D	1	B;B	0.33694	0.079;0.421	B;B	0.35550	0.07;0.205	T	0.62714	-0.6796	10	0.62326	D	0.03	.	8.8417	0.35146	0.9079:0.0:0.0921:0.0	.	1147;2404	C9JY79;Q9H254	.;SPTN4_HUMAN	L	2404;2404;1147	ENSP00000263373:Q2404L;ENSP00000375879:Q1147L	ENSP00000263373:Q2404L	Q	+	2	0	SPTBN4	45768366	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.361000	0.66092	0.707000	0.31934	0.260000	0.18958	CAG		0.786	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				4	2	0	0	0	0.009096	0	4	2		
PSG2	5670	broad.mit.edu	37	19	43579628	43579628	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:43579628G>C	ENST00000406487.1	-	3	685	c.587C>G	c.(586-588)tCc>tGc	p.S196C		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	196	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTTGGTTTCGGACAGCTGAAA	0.493																																						uc002ovr.2		NaN																	0					0						c.(586-588)TCC>TGC		pregnancy specific beta-1-glycoprotein 2							257.0	262.0	260.0					19																	43579628		2202	4298	6500	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579628G>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.587C>G	19.37:g.43579628G>C	ENSP00000385706:p.Ser196Cys					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S196C|PSG2_uc010eiq.1_Missense_Mutation_p.S196C|PSG2_uc002ovs.3_Missense_Mutation_p.S196C|PSG2_uc002ovt.3_Missense_Mutation_p.S196C	p.S196C	NM_031246	NP_112536	P11465	PSG2_HUMAN			3	680	-		Prostate(69;0.00682)	196			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.587C>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	10.28	1.305632	0.23736	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.11169	2.8	1.33	1.33	0.21861	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32133	0.0819	M	0.87547	2.89	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.99	T	0.04607	-1.0939	9	0.87932	D	0	.	6.0088	0.19562	0.0:0.0:1.0:0.0	.	196;196	B5MCM8;P11465	.;PSG2_HUMAN	C	196	ENSP00000385706:S196C	ENSP00000332984:S196C	S	-	2	0	PSG2	48271468	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.647000	0.05397	0.703000	0.31848	0.454000	0.30748	TCC		0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1		NM_031246		125	798	0	0	0	0.01441	0	125	798		
IRGQ	126298	broad.mit.edu	37	19	44097062	44097062	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:44097062G>A	ENST00000602269.1	-	2	1173	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	L34079.2_ENST00000594374.1_Missense_Mutation_p.R43C|IRGQ_ENST00000601520.1_5'UTR|IRGQ_ENST00000422989.1_Missense_Mutation_p.R330C			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	330	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCGTCTGTGCGCACGCAGACA	0.632																																						uc002oww.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(988-990)CGC>TGC		immunity-related GTPase family, Q							123.0	119.0	120.0					19																	44097062		2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44097062G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.988C>T	19.37:g.44097062G>A	ENSP00000472250:p.Arg330Cys					IRGQ_uc010eiv.2_Missense_Mutation_p.R330C	p.R330C	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			2	1106	-		Prostate(69;0.0199)	330					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.988C>T	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239045	0.58995	.	.	ENSG00000167378	ENST00000422989	T	0.58797	0.31	4.26	0.691	0.18045	.	0.353444	0.19631	N	0.109661	T	0.70237	0.3201	M	0.68952	2.095	0.43054	D	0.994667	D	0.89917	1.0	D	0.79108	0.992	T	0.71606	-0.4542	10	0.87932	D	0	-25.8297	11.4281	0.50022	0.0:0.0:0.5002:0.4998	.	330	Q8WZA9	IRGQ_HUMAN	C	330	ENSP00000387535:R330C	ENSP00000387535:R330C	R	-	1	0	IRGQ	48788902	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.930000	0.28858	0.242000	0.21303	-0.274000	0.10170	CGC		0.632	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1		NM_001007561		13	264	0	0	0	0.013537	0	13	264		
ZNF229	7772	broad.mit.edu	37	19	44933335	44933335	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:44933335C>T	ENST00000588931.1	-	6	2054	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.G535R|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	541					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)	p.G541*(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGTTTCTCTCCTGTGTGCAGT	0.512																																						uc002oze.1		NaN																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1621-1623)GGA>AGA		zinc finger protein 229							93.0	100.0	98.0					19																	44933335		2161	4284	6445	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933335C>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1621G>A	19.37:g.44933335C>T	ENSP00000466519:p.Gly541Arg					ZNF229_uc010ejk.1_Missense_Mutation_p.G195R|ZNF229_uc010ejl.1_Missense_Mutation_p.G535R	p.G541R	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2055	-		Prostate(69;0.0352)	541					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.1621G>A	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.424215	0.43020	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.82	2.76	0.32466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60560	0.2278	M	0.74389	2.26	0.26632	N	0.972448	D	0.62365	0.991	P	0.56474	0.799	T	0.52540	-0.8562	8	0.66056	D	0.02	.	10.607	0.45400	0.0:0.8983:0.0:0.1017	.	541	Q9UJW7	ZN229_HUMAN	R	541	.	ENSP00000291187:G541R	G	-	1	0	ZNF229	49625175	0.015000	0.18098	0.198000	0.23420	0.208000	0.24298	2.738000	0.47401	1.677000	0.50941	0.609000	0.83330	GGA		0.512	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1		NM_014518		145	87	0	0	0	0.01441	0	145	87		
CRX	1406	broad.mit.edu	37	19	48342712	48342712	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:48342712G>A	ENST00000221996.7	+	4	594	c.388G>A	c.(388-390)Gat>Aat	p.D130N	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.D130N	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	130					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ACCCTCCACAGATGTGTGTCC	0.667																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(388-390)GAT>AAT		cone-rod homeobox protein							50.0	54.0	53.0					19																	48342712		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342712G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.388G>A	19.37:g.48342712G>A	ENSP00000221996:p.Asp130Asn						p.D130N	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	592	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	130					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.388G>A	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261848	0.39995	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.89746	-2.56;-2.56	3.87	2.82	0.32997	.	0.337761	0.30999	N	0.008450	D	0.83008	0.5161	M	0.62723	1.935	0.09310	N	1	P	0.35011	0.48	B	0.27887	0.084	T	0.69822	-0.5041	10	0.23302	T	0.38	-7.9514	9.326	0.37993	0.1085:0.0:0.8915:0.0	.	130	O43186	CRX_HUMAN	N	130	ENSP00000221996:D130N;ENSP00000445565:D130N	ENSP00000221996:D130N	D	+	1	0	CRX	53034524	0.996000	0.38824	0.007000	0.13788	0.815000	0.46073	3.853000	0.55941	0.830000	0.34757	0.467000	0.42956	GAT		0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4		NM_000554		37	81	0	0	0	0.015359	0	37	81		
FUT2	2524	broad.mit.edu	37	19	49206253	49206253	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:49206253C>A	ENST00000425340.2	+	2	157	c.40C>A	c.(40-42)Cac>Aac	p.H14N	FUT2_ENST00000391876.4_Missense_Mutation_p.H14N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	14					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TCCCATGGCCCACTTCATCCT	0.547																																						uc002pke.3		NaN																	0				central_nervous_system(1)	1						c.(40-42)CAC>AAC		fucosyltransferase 2							296.0	259.0	272.0					19																	49206253		2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206253C>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.40C>A	19.37:g.49206253C>A	ENSP00000387498:p.His14Asn					FUT2_uc010emc.2_Missense_Mutation_p.H14N	p.H14N	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	151	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	14			Cytoplasmic (Potential).		Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.40C>A	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351629	0.24512	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.97831	-4.56;-4.04;-4.04	4.19	2.0	0.26442	.	.	.	.	.	D	0.94840	0.8333	M	0.64997	1.995	0.09310	N	1	P	0.36086	0.536	B	0.32289	0.143	D	0.88765	0.3260	9	0.35671	T	0.21	.	5.3364	0.15959	0.1989:0.6956:0.0:0.1055	.	14	Q10981	FUT2_HUMAN	N	14	ENSP00000430227:H14N;ENSP00000387498:H14N;ENSP00000375748:H14N	ENSP00000375748:H14N	H	+	1	0	FUT2	53898065	0.012000	0.17670	0.001000	0.08648	0.008000	0.06430	0.537000	0.23144	0.525000	0.28522	-0.346000	0.07831	CAC		0.547	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2		NM_000511		61	184	1	0	1.1362e-29	0.01441	1.29045e-29	61	184		
PPFIA3	8541	broad.mit.edu	37	19	49643235	49643235	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:49643235C>T	ENST00000334186.4	+	18	2607	c.2258C>T	c.(2257-2259)tCt>tTt	p.S753F	PPFIA3_ENST00000602351.1_Missense_Mutation_p.S753F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	753					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCCAGATTCTCTGCACAAA	0.562																																						uc002pmr.2		NaN																	0				lung(1)	1						c.(2257-2259)TCT>TTT		PTPRF interacting protein alpha 3							113.0	111.0	112.0					19																	49643235		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49643235C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2258C>T	19.37:g.49643235C>T	ENSP00000335614:p.Ser753Phe					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.S621F|PPFIA3_uc002pmt.2_5'Flank	p.S753F	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	18	2590	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	753					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2258C>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	c	13.69	2.313178	0.40895	.	.	ENSG00000177380	ENST00000334186	T	0.26810	1.71	4.17	4.17	0.49024	.	0.486799	0.16372	U	0.217263	T	0.51719	0.1691	M	0.81497	2.545	0.80722	D	1	D;B	0.57899	0.981;0.374	D;B	0.63381	0.914;0.333	T	0.59306	-0.7479	10	0.87932	D	0	-3.4051	15.6306	0.76906	0.0:1.0:0.0:0.0	.	753;753	O75145-2;O75145	.;LIPA3_HUMAN	F	753	ENSP00000335614:S753F	ENSP00000335614:S753F	S	+	2	0	PPFIA3	54335047	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	7.712000	0.84684	2.041000	0.60428	0.450000	0.29827	TCT		0.562	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1		NM_003660		68	110	0	0	0	0.01441	0	68	110		
HAS1	3036	broad.mit.edu	37	19	52220265	52220265	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:52220265C>T	ENST00000222115.1	-	3	918	c.884G>A	c.(883-885)tGt>tAt	p.C295Y	HAS1_ENST00000594621.1_Missense_Mutation_p.C149Y|HAS1_ENST00000601714.1_Missense_Mutation_p.C302Y|HAS1_ENST00000540069.2_Missense_Mutation_p.C294Y	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	295					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTAGCTCTGACAAGCCCGCTC	0.577																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(883-885)TGT>TAT		hyaluronan synthase 1							119.0	111.0	114.0					19																	52220265		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52220265C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.884G>A	19.37:g.52220265C>T	ENSP00000222115:p.Cys295Tyr					HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.C260Y|HAS1_uc002pxn.1_Missense_Mutation_p.C302Y|HAS1_uc002pxp.1_Missense_Mutation_p.C294Y	p.C295Y	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	919	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	295			Cytoplasmic (Potential).		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.884G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.025644	0.75390	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.41065	1.01;1.01	4.08	4.08	0.47627	.	0.000000	0.85682	U	0.000000	T	0.68787	0.3039	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.76713	-0.2858	10	0.87932	D	0	-16.4276	14.2156	0.65790	0.0:1.0:0.0:0.0	.	294;295;294	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	Y	294;295;152;149	ENSP00000445021:C294Y;ENSP00000222115:C295Y	ENSP00000222115:C295Y	C	-	2	0	HAS1	56912077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.692000	0.84203	2.014000	0.59158	0.489000	0.48404	TGT		0.577	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1		NM_001523		53	159	0	0	0	0.01441	0	53	159		
ZNF805	390980	broad.mit.edu	37	19	57764890	57764890	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:57764890G>A	ENST00000414468.2	+	4	703	c.703G>A	c.(703-705)Gag>Aag	p.E235K	ZNF805_ENST00000354309.4_Missense_Mutation_p.E102K|ZNF805_ENST00000535550.1_Missense_Mutation_p.E102K	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	235					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)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						TGAATGCACAGAGTGTGGAAA	0.458																																						uc010ygt.1		NaN																	0					0						c.(703-705)GAG>AAG		zinc finger protein 805 isoform 1							58.0	56.0	57.0					19																	57764890		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57764890G>A	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.703G>A	19.37:g.57764890G>A	ENSP00000412999:p.Glu235Lys					ZNF805_uc010ygu.1_Missense_Mutation_p.E102K	p.E235K	NM_001023563	NP_001018857	Q5CZA5	ZN805_HUMAN			4	910	+			235			C2H2-type 2.		B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.703G>A	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253612	0.59212	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.16597	2.33;2.33;2.33	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22742	0.0549	N	0.20986	0.625	0.09310	N	1	D	0.58970	0.984	P	0.59221	0.854	T	0.05649	-1.0872	9	0.66056	D	0.02	.	10.1546	0.42814	0.0:0.0:0.8008:0.1992	.	235	Q5CZA5	ZN805_HUMAN	K	102;235;102	ENSP00000440067:E102K;ENSP00000412999:E235K;ENSP00000365414:E102K	ENSP00000365414:E102K	E	+	1	0	ZNF805	62456702	0.001000	0.12720	0.992000	0.48379	0.953000	0.61014	0.139000	0.16036	2.486000	0.83907	0.655000	0.94253	GAG		0.458	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1		NM_001023563		3	18	0	0	0	0.004672	0	3	18		
ZNF548	147694	broad.mit.edu	37	19	57908460	57908460	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:57908460G>T	ENST00000366197.5	+	2	310	c.60G>T	c.(58-60)gaG>gaT	p.E20D	ZNF548_ENST00000598895.1_Missense_Mutation_p.E32D|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.E32D|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.E32D	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCCCAGGAGGAGTGGGGGC	0.488																																						uc002qom.2		NaN																	0				breast(1)	1						c.(58-60)GAG>GAT		zinc finger protein 548							345.0	322.0	330.0					19																	57908460		2203	4300	6503	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908460G>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.60G>T	19.37:g.57908460G>T	ENSP00000379482:p.Glu20Asp					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.E23D	p.E20D	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	310	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	20			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.60G>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069469	0.36470	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.03413	3.94;3.94	2.55	-1.05	0.10036	Krueppel-associated box (4);	.	.	.	.	T	0.06050	0.0157	M	0.79693	2.465	0.21020	N	0.999802	P;P	0.36909	0.518;0.573	B;B	0.37451	0.162;0.25	T	0.23226	-1.0194	9	0.59425	D	0.04	.	3.7959	0.08738	0.2455:0.0:0.5636:0.1909	.	32;20	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	D	32;20	ENSP00000337555:E32D;ENSP00000379482:E20D	ENSP00000337555:E32D	E	+	3	2	ZNF548	62600272	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	0.773000	0.26661	-0.110000	0.12022	0.563000	0.77884	GAG		0.488	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1		NM_152909		96	171	1	0	1.15966e-41	0.01441	1.32147e-41	96	171		
ZNF606	80095	broad.mit.edu	37	19	58491154	58491154	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:58491154G>A	ENST00000341164.4	-	7	1514	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ZNF606_ENST00000536132.1_Silent_p.F208F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTATATGATTGAAAGATTTAA	0.318																																						uc002qqw.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(892-894)TTC>TTT		zinc finger protein 606							75.0	77.0	76.0					19																	58491154		2203	4298	6501	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491154G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.894C>T	19.37:g.58491154G>A						ZNF606_uc010yhp.1_Silent_p.F208F	p.F298F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1512	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	298			C2H2-type 1; degenerate.		A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.894C>T	CCDS12968.1																																																																																				0.318	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1		NM_025027		21	49	0	0	0	0.008871	0	21	49		
A1BG	1	broad.mit.edu	37	19	58862857	58862857	+	Silent	SNP	G	G	A	rs140428520		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:58862857G>A	ENST00000263100.3	-	5	871	c.810C>T	c.(808-810)gcC>gcT	p.A270A	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	270	Ig-like V-type 3.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CATCCCCCAGGGCCACCGCGT	0.632																																						uc002qsd.3		NaN																	0					0						c.(808-810)GCC>GCT		alpha 1B-glycoprotein precursor		G		1,4405	2.1+/-5.4	0,1,2202	69.0	62.0	64.0		810	-8.2	0.0	19	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	A1BG	NM_130786.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		270/496	58862857	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58862857G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.810C>T	19.37:g.58862857G>A						NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank	p.A270A	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	872	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	270			Ig-like V-type 3.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.810C>T	CCDS12976.1																																																																																				0.632	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1		NM_130786		8	46	0	0	0	0.00308	0	8	46		
PPM1G	5496	broad.mit.edu	37	2	27608625	27608625	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:27608625T>A	ENST00000344034.4	-	4	662	c.398A>T	c.(397-399)gAt>gTt	p.D133V	PPM1G_ENST00000350803.4_Missense_Mutation_p.D133V	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	133					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCATCTTCATCAGCTACTTT	0.393																																						uc002rkl.2		NaN																	0				ovary(1)	1						c.(397-399)GAT>GTT		protein phosphatase 1G							174.0	167.0	170.0					2																	27608625		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27608625T>A	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.398A>T	2.37:g.27608625T>A	ENSP00000342778:p.Asp133Val					PPM1G_uc002rkm.2_5'UTR	p.D133V	NM_002707	NP_002698	O15355	PPM1G_HUMAN			5	505	-	Acute lymphoblastic leukemia(172;0.155)		133						Missense_Mutation	SNP	ENST00000344034.4	37	c.398A>T	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482222	0.84747	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.54479	0.57;0.57	5.75	5.75	0.90469	Protein phosphatase 2C-like (3);	0.054132	0.64402	D	0.000001	T	0.67468	0.2896	M	0.66939	2.045	0.80722	D	1	D	0.64830	0.994	P	0.59889	0.865	T	0.71056	-0.4703	10	0.72032	D	0.01	-16.649	14.8904	0.70604	0.0:0.0:0.0:1.0	.	133	O15355	PPM1G_HUMAN	V	133;133;116	ENSP00000342778:D133V;ENSP00000264714:D133V	ENSP00000342778:D133V	D	-	2	0	PPM1G	27462129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.201000	0.70794	0.533000	0.62120	GAT		0.393	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1		NM_002707		32	66	0	0	0	0.019004	0	32	66		
SUPT7L	9913	broad.mit.edu	37	2	27876591	27876591	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:27876591G>C	ENST00000337768.5	-	6	1575	c.1006C>G	c.(1006-1008)Ctt>Gtt	p.L336V	SUPT7L_ENST00000404798.2_Missense_Mutation_p.L201V|SUPT7L_ENST00000406540.1_Missense_Mutation_p.L334V|SUPT7L_ENST00000405491.1_Missense_Mutation_p.L334V|SUPT7L_ENST00000464789.2_Missense_Mutation_p.L334V	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	336					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AGATTCCAAAGAGGAGAAGCA	0.448																																						uc002rlh.1		NaN																	0				skin(2)	2						c.(1006-1008)CTT>GTT		SPTF-associated factor 65 gamma							152.0	146.0	148.0					2																	27876591		1969	4152	6121	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27876591G>C	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.1006C>G	2.37:g.27876591G>C	ENSP00000336750:p.Leu336Val					SUPT7L_uc002rli.1_Missense_Mutation_p.L336V|SUPT7L_uc010ymf.1_Missense_Mutation_p.L201V|SUPT7L_uc002rlj.1_Missense_Mutation_p.L334V|SUPT7L_uc010ezh.1_Missense_Mutation_p.L334V	p.L336V	NM_014860	NP_055675	O94864	ST65G_HUMAN			6	1349	-	Acute lymphoblastic leukemia(172;0.155)		336					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.1006C>G	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884268	0.72410	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	L	0.29908	0.895	0.58432	D	0.999996	P;P;P	0.50943	0.901;0.94;0.901	P;P;P	0.51135	0.458;0.66;0.458	T	0.59878	-0.7371	9	0.52906	T	0.07	-16.2213	20.422	0.99049	0.0:0.0:1.0:0.0	.	201;334;336	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	V	336;334;334;334;201	.	ENSP00000336750:L336V	L	-	1	0	SUPT7L	27730095	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.277000	0.58939	2.832000	0.97577	0.655000	0.94253	CTT		0.448	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1		NM_014860		39	93	0	0	0	0.006999	0	39	93		
XDH	7498	broad.mit.edu	37	2	31591514	31591514	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:31591514C>T	ENST00000379416.3	-	19	2041	c.1993G>A	c.(1993-1995)Ggg>Agg	p.G665R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	665					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ATGATATGCCCAACACAAGTA	0.443																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NaN																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1993-1995)GGG>AGG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						107.0	100.0	103.0					2																	31591514		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31591514C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1993G>A	2.37:g.31591514C>T	ENSP00000368727:p.Gly665Arg						p.G665R	NM_000379	NP_000370	P47989	XDH_HUMAN			19	2072	-	Acute lymphoblastic leukemia(172;0.155)		665					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1993G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321239	0.95682	.	.	ENSG00000158125	ENST00000379416	T	0.50001	0.76	6.17	6.17	0.99709	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85335	0.1092	10	0.87932	D	0	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	665	P47989	XDH_HUMAN	R	665	ENSP00000368727:G665R	ENSP00000368727:G665R	G	-	1	0	XDH	31445018	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.569000	0.82380	2.941000	0.99782	0.655000	0.94253	GGG		0.443	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379		26	66	0	0	0	0.00632	0	26	66		
MTIF2	4528	broad.mit.edu	37	2	55479634	55479634	+	Missense_Mutation	SNP	G	G	C	rs201670492		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:55479634G>C	ENST00000263629.4	-	8	1135	c.820C>G	c.(820-822)Cag>Gag	p.Q274E	MTIF2_ENST00000394600.3_Missense_Mutation_p.Q274E|MTIF2_ENST00000446660.1_5'Flank|MTIF2_ENST00000403721.1_Missense_Mutation_p.Q274E	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	274	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTGGCATGCTGAATAGATTCT	0.423																																						uc002ryn.2		NaN																	0				ovary(1)	1						c.(820-822)CAG>GAG		mitochondrial translational initiation factor 2							155.0	134.0	141.0					2																	55479634		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55479634G>C	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.820C>G	2.37:g.55479634G>C	ENSP00000263629:p.Gln274Glu					MTIF2_uc010yox.1_Intron|MTIF2_uc002ryo.2_Missense_Mutation_p.Q274E	p.Q274E	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			9	1557	-			274			G-domain.		D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.820C>G	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306319	0.40795	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.70045	-0.45;-0.45;-0.45	6.07	4.21	0.49690	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.187276	0.48286	D	0.000195	T	0.39886	0.1095	N	0.01529	-0.815	0.45515	D	0.998473	B	0.02656	0.0	B	0.19946	0.027	T	0.21861	-1.0233	10	0.45353	T	0.12	-0.3405	12.091	0.53726	0.0:0.1172:0.6395:0.2433	.	274	P46199	IF2M_HUMAN	E	274	ENSP00000384481:Q274E;ENSP00000263629:Q274E;ENSP00000378099:Q274E	ENSP00000263629:Q274E	Q	-	1	0	MTIF2	55333138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.785000	0.47782	0.831000	0.34780	0.655000	0.94253	CAG		0.423	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4		NM_002453		28	74	0	0	0	0.012213	0	28	74		
PPP3R1	5534	broad.mit.edu	37	2	68408096	68408096	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:68408096C>G	ENST00000234310.3	-	6	915	c.512G>C	c.(511-513)tGa>tCa	p.*171S	PPP3R1_ENST00000409752.1_Nonstop_Mutation_p.*190S|PPP3R1_ENST00000409377.1_Nonstop_Mutation_p.*161S|RP11-474G23.1_ENST00000406334.3_Intron|RP11-474G23.2_ENST00000609955.1_RNA	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	0					apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904)			large_intestine(1)	1						TGATAAGAGTCACACATCTAC	0.433																																						uc002sei.1		NaN																	0					0						c.(511-513)TGA>TCA		protein phosphatase 3, regulatory subunit B,	Pimecrolimus(DB00337)						130.0	128.0	129.0					2																	68408096		2024	4194	6218	SO:0001578	stop_lost	5534				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding	g.chr2:68408096C>G	M30773	CCDS46310.1	2p14	2013-01-10	2010-04-14		ENSG00000221823	ENSG00000221823	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing"""	9317	protein-coding gene	gene with protein product	"""calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"""	601302	"""protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"""			8978785, 2558868	Standard	NM_000945		Approved	CALNB1, CNB, CNB1	uc002sei.1	P63098	OTTHUMG00000129561	ENST00000234310.3:c.512G>C	2.37:g.68408096C>G							p.*171S	NM_000945	NP_000936	P63098	CANB1_HUMAN			6	904	-			171					B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0	Nonstop_Mutation	SNP	ENST00000234310.3	37	c.512G>C	CCDS46310.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922820	0.52653	.	.	ENSG00000221823	ENST00000234310;ENST00000409752;ENST00000409377	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5799	0.95461	0.0:1.0:0.0:0.0	.	.	.	.	S	171;190;161	.	.	X	-	2	2	PPP3R1	68261600	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.818000	0.69236	2.695000	0.91970	0.650000	0.86243	TGA		0.433	PPP3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326765.4		NM_000945		5	23	0	0	0	0.001168	0	5	23		
MXD1	4084	broad.mit.edu	37	2	70164512	70164512	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:70164512C>G	ENST00000264444.2	+	5	724	c.464C>G	c.(463-465)tCc>tGc	p.S155C	MXD1_ENST00000540449.1_Missense_Mutation_p.S145C	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	155					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCGGAGCGCTCCGACTCCGAC	0.627																																						uc002sfy.2		NaN																	0					0						c.(463-465)TCC>TGC		MAX dimerization protein 1							51.0	51.0	51.0					2																	70164512		2203	4300	6503	SO:0001583	missense	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70164512C>G		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.464C>G	2.37:g.70164512C>G	ENSP00000264444:p.Ser155Cys					MXD1_uc010yqp.1_Missense_Mutation_p.S155C|MXD1_uc010yqq.1_Missense_Mutation_p.S92C|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.S145C	p.S155C	NM_002357	NP_002348	Q05195	MAD1_HUMAN			5	724	+			155					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	37	c.464C>G	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081768	0.76528	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.54279	0.64;0.58;0.59	5.95	5.95	0.96441	.	0.054197	0.85682	D	0.000000	T	0.75781	0.3896	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.77579	-0.2535	10	0.87932	D	0	.	18.957	0.92662	0.0:1.0:0.0:0.0	.	145;155;155	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	C	123;155;145	ENSP00000410672:S123C;ENSP00000264444:S155C;ENSP00000443935:S145C	ENSP00000264444:S155C	S	+	2	0	MXD1	70018016	1.000000	0.71417	0.968000	0.41197	0.640000	0.38277	5.977000	0.70492	2.824000	0.97209	0.655000	0.94253	TCC		0.627	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3		NM_002357		19	42	0	0	0	0.006122	0	19	42		
ZAP70	7535	broad.mit.edu	37	2	98340656	98340656	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:98340656G>C	ENST00000264972.5	+	3	372	c.157G>C	c.(157-159)Gat>Cat	p.D53H	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	53	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCTCGTGCACGATGTGCGCTT	0.672																																						uc002syd.1		NaN																	0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(157-159)GAT>CAT		zeta-chain associated protein kinase 70kDa							22.0	18.0	19.0					2																	98340656		2202	4299	6501	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340656G>C	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.157G>C	2.37:g.98340656G>C	ENSP00000264972:p.Asp53His					ZAP70_uc010yvf.1_Missense_Mutation_p.D53H|ZAP70_uc002sye.1_5'Flank	p.D53H	NM_001079	NP_001070	P43403	ZAP70_HUMAN			3	364	+			53			SH2 1.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.157G>C	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665431	0.47677	.	.	ENSG00000115085	ENST00000264972	T	0.26957	1.7	4.6	0.72	0.18214	SH2 motif (4);	0.687732	0.13053	N	0.417556	T	0.23649	0.0572	L	0.46670	1.46	0.80722	D	1	B;P	0.40602	0.081;0.723	B;B	0.42343	0.077;0.384	T	0.03981	-1.0987	10	0.46703	T	0.11	.	7.767	0.28986	0.4509:0.0:0.5491:0.0	.	53;53	B4E0E2;P43403	.;ZAP70_HUMAN	H	53	ENSP00000264972:D53H	ENSP00000264972:D53H	D	+	1	0	ZAP70	97707088	0.997000	0.39634	0.994000	0.49952	0.866000	0.49608	0.750000	0.26334	-0.069000	0.12931	0.460000	0.39030	GAT		0.672	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1				13	11	0	0	0	0.013537	0	13	11		
MGAT4A	11320	broad.mit.edu	37	2	99294780	99294780	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:99294780C>G	ENST00000264968.3	-	2	612	c.249G>C	c.(247-249)ttG>ttC	p.L83F	MGAT4A_ENST00000393487.1_Missense_Mutation_p.L83F|MGAT4A_ENST00000409391.1_Missense_Mutation_p.L83F			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	83					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AAAACTTATTCAACGCATCCT	0.294																																						uc002sze.2		NaN																	0				skin(1)	1						c.(247-249)TTG>TTC		alpha-1,3-mannosyl-glycoprotein							89.0	85.0	86.0					2																	99294780		2202	4300	6502	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99294780C>G	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.249G>C	2.37:g.99294780C>G	ENSP00000264968:p.Leu83Phe					MGAT4A_uc010fil.2_5'UTR	p.L83F	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN			3	563	-			83			Lumenal (Potential).		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.249G>C	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.283993	0.01398	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	T;T;T	0.46451	0.87;0.87;0.87	5.44	0.556	0.17253	.	1.532440	0.03640	N	0.239404	T	0.28300	0.0699	L	0.28192	0.835	0.19575	N	0.999969	B	0.10296	0.003	B	0.12837	0.008	T	0.13308	-1.0514	10	0.11794	T	0.64	.	6.0322	0.19686	0.0:0.5007:0.1341:0.3653	.	83	Q9UM21	MGT4A_HUMAN	F	83	ENSP00000377127:L83F;ENSP00000264968:L83F;ENSP00000386841:L83F	ENSP00000264968:L83F	L	-	3	2	MGAT4A	98661212	0.995000	0.38212	0.251000	0.24312	0.316000	0.28119	0.913000	0.28611	0.161000	0.19458	0.555000	0.69702	TTG		0.294	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2		NM_012214		17	108	0	0	0	0.004007	0	17	108		
MGAT4A	11320	broad.mit.edu	37	2	99294910	99294911	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:99294910_99294911TC>AT	ENST00000264968.3	-	2	481_482	c.118_119GA>AT	c.(118-120)GAa>ATa	p.E40I	MGAT4A_ENST00000393487.1_Missense_Mutation_p.E40I|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40I			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	40					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGCAAGGAATTCTCGTTGATAA	0.337																																						uc002sze.2		NaN																	0				skin(1)	1						c.(118-120)GAA>ATA		alpha-1,3-mannosyl-glycoprotein																																				SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99294910_99294911TC>AT	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.118_119delinsAT	2.37:g.99294910_99294911delinsAT	ENSP00000264968:p.Glu40Ile					MGAT4A_uc010fil.2_5'UTR	p.E40I	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN			3	432_433	-			40			Lumenal (Potential).|Potential.		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	DNP	ENST00000264968.3	37	c.118_119GA>AT	CCDS2036.1																																																																																				0.337	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2		NM_012214		18	85	0	0	0	0.004672	0	18	85		
GLI2	2736	broad.mit.edu	37	2	121744054	121744054	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:121744054G>A	ENST00000452319.1	+	13	2217	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	GLI2_ENST00000361492.4_Silent_p.L719L|GLI2_ENST00000314490.11_Silent_p.L391L					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCTCCAGCTGCGCAAACACA	0.657																																						uc010flp.2		NaN																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(2155-2157)CTG>CTA		GLI-Kruppel family member GLI2							60.0	57.0	58.0					2																	121744054		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121744054G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2157G>A	2.37:g.121744054G>A						GLI2_uc002tmq.1_Silent_p.L391L|GLI2_uc002tmr.1_Silent_p.L374L|GLI2_uc002tmt.3_Silent_p.L391L|GLI2_uc002tmu.3_Silent_p.L374L|GLI2_uc002tmw.1_Silent_p.L702L	p.L719L	NM_005270	NP_005261	P10070	GLI2_HUMAN			12	2187	+	Renal(3;0.0496)	Prostate(154;0.0623)	719	QL -> HV (in Ref. 4; BAA03568/BAA03569).					Silent	SNP	ENST00000452319.1	37	c.2157G>A	CCDS33283.1																																																																																				0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270		6	21	0	0	0	0.001168	0	6	21		
ERCC3	2071	broad.mit.edu	37	2	128036775	128036775	+	Silent	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:128036775T>C	ENST00000285398.2	-	10	1798	c.1704A>G	c.(1702-1704)ctA>ctG	p.L568L	ERCC3_ENST00000493187.2_Silent_p.L504L	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	568	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CATATTCCTTTAGGGCAAACA	0.428			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NaN	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(1702-1704)CTA>CTG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							105.0	96.0	99.0					2																	128036775		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128036775T>C	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1704A>G	2.37:g.128036775T>C						ERCC3_uc002toe.1_Silent_p.L323L|ERCC3_uc002tof.1_Silent_p.L504L|ERCC3_uc002tog.1_Silent_p.L504L	p.L568L	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	10	1799	-	Colorectal(110;0.1)		568			Helicase C-terminal.		Q53QM0	Silent	SNP	ENST00000285398.2	37	c.1704A>G	CCDS2144.1																																																																																				0.428	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1		NM_000122		17	22	0	0	0	0.00499	0	17	22		
GPR17	2840	broad.mit.edu	37	2	128408390	128408390	+	Silent	SNP	G	G	A	rs145234598		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:128408390G>A	ENST00000272644.3	+	3	239	c.165G>A	c.(163-165)acG>acA	p.T55T	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000410038.1_5'Flank|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000544369.1_Silent_p.T55T|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Silent_p.T55T|LIMS2_ENST00000355119.4_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	55					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		gccaggagacgccactggaga	0.547											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		18174	0.0		0.0	False		,,,				2504	0.001					uc010yzn.1		NaN																	0					0						c.(163-165)ACG>ACA		G protein-coupled receptor 17 isoform a		G	,,,,,,,	0,4406		0,0,2203	108.0	104.0	105.0		,,,165,81,81,165,	-7.6	0.0	2	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,	,,,55/368,27/340,27/340,55/368,	128408390	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408390G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.165G>A	2.37:g.128408390G>A			OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1564	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.T55T|GPR17_uc010yzo.1_Silent_p.T27T|GPR17_uc002tpd.2_Silent_p.T27T	p.T55T	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	776	+	Colorectal(110;0.1)	Ovarian(717;0.15)	55			Extracellular (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.165G>A	CCDS2148.1																																																																																				0.547	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1				14	56	0	0	0	0.020292	0	14	56		
TTN	7273	broad.mit.edu	37	2	179448568	179448568	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:179448568G>C	ENST00000591111.1	-	262	60642	c.60418C>G	c.(60418-60420)Cca>Gca	p.P20140A	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21781A|TTN_ENST00000460472.2_Missense_Mutation_p.P12716A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12841A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12908A|TTN_ENST00000342992.6_Missense_Mutation_p.P19213A			Q8WZ42	TITIN_HUMAN	titin	20140	Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATGCTTTGGACGAGCCCAG	0.428																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(57637-57639)CCA>GCA		titin isoform N2-A							55.0	52.0	53.0					2																	179448568		1883	4119	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179448568G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60418C>G	2.37:g.179448568G>C	ENSP00000465570:p.Pro20140Ala					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12908A|TTN_uc010zfi.1_Missense_Mutation_p.P12841A|TTN_uc010zfj.1_Missense_Mutation_p.P12716A	p.P19213A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		261	57861	-			20140					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.57637C>G		.	.	.	.	.	.	.	.	.	.	G	17.28	3.348917	0.61183	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84714	0.5533	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.87000	0.2116	9	0.87932	D	0	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	12716;12841;12908;20140	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	19213;12716;12908;12841;12714	ENSP00000343764:P19213A;ENSP00000434586:P12716A;ENSP00000340554:P12908A;ENSP00000352154:P12841A	ENSP00000340554:P12908A	P	-	1	0	TTN	179156814	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	8.004000	0.88535	2.797000	0.96272	0.655000	0.94253	CCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	10	0	0	0	0.001168	0	6	10		
FN1	2335	broad.mit.edu	37	2	216237060	216237060	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:216237060G>C	ENST00000359671.1	-	39	6278	c.6013C>G	c.(6013-6015)Ctt>Gtt	p.L2005V	FN1_ENST00000446046.1_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.L1915V|FN1_ENST00000443816.1_Missense_Mutation_p.L1915V|FN1_ENST00000357009.2_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.L2096V|FN1_ENST00000336916.4_Missense_Mutation_p.L2005V|FN1_ENST00000323926.6_Missense_Mutation_p.L2096V|FN1_ENST00000346544.3_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000432072.2_Intron			P02751	FINC_HUMAN	fibronectin 1	2005	Connecting strand 3 (CS-3) (V region).				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGTCCATGAAGATTGGGGTGT	0.502																																						uc002vfa.2		NaN																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(6286-6288)CTT>GTT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						78.0	72.0	74.0					2																	216237060		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216237060G>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6013C>G	2.37:g.216237060G>C	ENSP00000352696:p.Leu2005Val					FN1_uc002vfb.2_Missense_Mutation_p.L1915V|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Intron|FN1_uc002vfe.2_Missense_Mutation_p.L2005V|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Missense_Mutation_p.L1915V|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.L2096V|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_Missense_Mutation_p.L290V|FN1_uc010zjp.1_Missense_Mutation_p.L633V|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Missense_Mutation_p.L187V	p.L2096V	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	40	6552	-		Renal(323;0.127)	2005			Connecting strand 3 (CS-3) (V region).		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6286C>G		.	.	.	.	.	.	.	.	.	.	G	12.99	2.102580	0.37145	.	.	ENSG00000115414	ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000443816;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T	0.46451	2.25;2.45;2.48;2.13;1.68;1.56;0.87	5.44	5.44	0.79542	.	0.326267	0.22595	N	0.058033	T	0.47173	0.1431	L	0.36672	1.1	0.80722	D	1	P;B;B;B;B;B;P	0.52170	0.951;0.38;0.182;0.011;0.334;0.057;0.875	P;B;B;B;B;B;B	0.52031	0.688;0.322;0.114;0.039;0.163;0.191;0.377	T	0.15292	-1.0442	9	.	.	.	.	18.3293	0.90263	0.0:0.0:1.0:0.0	.	1796;2096;1915;2005;1915;2096;2005	Q68CX6;P02751-7;P02751-8;P02751-3;P02751-14;P02751-15;P02751	.;.;.;.;.;.;FINC_HUMAN	V	2096;2005;2096;2006;2005;1915;1915;722	ENSP00000323534:L2096V;ENSP00000338200:L2005V;ENSP00000346839:L2096V;ENSP00000352696:L2005V;ENSP00000415018:L1915V;ENSP00000348285:L1915V;ENSP00000416139:L722V	.	L	-	1	0	FN1	215945305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.081000	0.71309	2.937000	0.99478	0.650000	0.86243	CTT		0.502	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476		34	29	0	0	0	0.015359	0	34	29		
SPEG	10290	broad.mit.edu	37	2	220326632	220326632	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:220326632C>G	ENST00000312358.7	+	7	2601	c.2469C>G	c.(2467-2469)ccC>ccG	p.P823P	SPEG_ENST00000396688.1_5'UTR|SPEG_ENST00000396698.1_Silent_p.P719P|SPEG_ENST00000396695.2_Silent_p.P31P|SPEG_ENST00000396686.1_5'UTR|SPEG_ENST00000396689.2_5'UTR|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	823					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCAGCAGCCCCATCACCTCCG	0.627																																						uc010fwg.2		NaN																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(2467-2469)CCC>CCG		SPEG complex locus							77.0	85.0	83.0					2																	220326632		1978	4175	6153	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220326632C>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2469C>G	2.37:g.220326632C>G						SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Silent_p.P31P|SPEG_uc002vln.1_Silent_p.P31P|SPEG_uc002vlp.1_Silent_p.P31P|SPEG_uc002vlq.2_5'UTR	p.P823P	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	7	2469	+		Renal(207;0.0183)	823					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.2469C>G	CCDS42824.1																																																																																				0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876		36	46	0	0	0	0.019004	0	36	46		
ITM2C	81618	broad.mit.edu	37	2	231738161	231738161	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:231738161G>C	ENST00000326427.6	+	2	276	c.150G>C	c.(148-150)aaG>aaC	p.K50N	ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000409704.2_5'UTR|ITM2C_ENST00000326407.6_Missense_Mutation_p.K50N|ITM2C_ENST00000335005.6_Intron	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	50					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ATCGATCCAAGAGGGGGGGCT	0.612																																						uc002vqz.2		NaN																	0					0						c.(148-150)AAG>AAC		integral membrane protein 2C isoform 1							79.0	64.0	69.0					2																	231738161		2203	4300	6503	SO:0001583	missense	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231738161G>C	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.150G>C	2.37:g.231738161G>C	ENSP00000322730:p.Lys50Asn					ITM2C_uc002vra.2_Intron|ITM2C_uc002vrb.2_Missense_Mutation_p.K50N|ITM2C_uc002vrc.2_5'Flank|ITM2C_uc002vrd.2_5'Flank	p.K50N	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	270	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	50					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	c.150G>C	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	G	3.734	-0.054890	0.07362	.	.	ENSG00000135916	ENST00000457215;ENST00000326427;ENST00000326407	T;T;T	0.31769	1.48;1.9;1.89	4.85	3.05	0.35203	.	0.700302	0.13961	N	0.350864	T	0.18467	0.0443	N	0.22421	0.69	0.30720	N	0.748323	B;B	0.25609	0.13;0.023	B;B	0.20955	0.032;0.014	T	0.18366	-1.0339	10	0.27785	T	0.31	-22.7543	7.5797	0.27957	0.199:0.0:0.801:0.0	.	50;50	Q9NQX7-3;Q9NQX7	.;ITM2C_HUMAN	N	50	ENSP00000390655:K50N;ENSP00000322730:K50N;ENSP00000322100:K50N	ENSP00000322100:K50N	K	+	3	2	ITM2C	231446405	0.925000	0.31364	0.588000	0.28705	0.037000	0.13140	1.676000	0.37565	0.470000	0.27294	-0.137000	0.14449	AAG		0.612	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2		NM_030926		6	27	0	0	0	0.001168	0	6	27		
COL6A3	1293	broad.mit.edu	37	2	238303321	238303321	+	Silent	SNP	A	A	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:238303321A>C	ENST00000295550.4	-	3	1070	c.618T>G	c.(616-618)ctT>ctG	p.L206L	COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000347401.3_Silent_p.L206L|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000346358.4_Silent_p.L206L|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	206	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTATGTCATGAAGTGAGGTAA	0.433																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(616-618)CTT>CTG		alpha 3 type VI collagen isoform 1 precursor							136.0	129.0	132.0					2																	238303321		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303321A>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.618T>G	2.37:g.238303321A>C						COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.L206L	p.L206L	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	903	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	206			VWFA 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.618T>G	CCDS33412.1																																																																																				0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		11	37	0	0	0	0.008291	0	11	37		
MAP1LC3A	84557	broad.mit.edu	37	20	33147573	33147573	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:33147573C>T	ENST00000360668.3	+	4	998	c.237C>T	c.(235-237)ttC>ttT	p.F79F	MAP1LC3A_ENST00000374837.3_Silent_p.F83F|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Silent_p.F79F			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	79					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CGCAGGCCTTCTTCCTGCTGG	0.632																																						uc002xaq.1		NaN																	0					0						c.(235-237)TTC>TTT		microtubule-associated protein 1 light chain 3							47.0	53.0	51.0					20																	33147573		2203	4300	6503	SO:0001819	synonymous_variant	84557				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	g.chr20:33147573C>T		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.237C>T	20.37:g.33147573C>T						MAP1LC3A_uc002xap.1_Silent_p.F83F	p.F79F	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN			4	391	+			79					E1P5P4|E1P5P5|Q9BXW5	Silent	SNP	ENST00000360668.3	37	c.237C>T	CCDS13238.1																																																																																				0.632	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2		NM_181509		26	69	0	0	0	0.021523	0	26	69		
GDF5OS	554250	broad.mit.edu	37	20	34022096	34022096	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:34022096G>A	ENST00000374375.1	+	2	582	c.140G>A	c.(139-141)aGg>aAg	p.R47K	GDF5_ENST00000374372.1_Silent_p.L373L|GDF5_ENST00000374369.3_Silent_p.L373L			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	47	Arg-rich.					mitochondrion (GO:0005739)				cervix(1)|endometrium(4)|lung(4)	9						TGGCTGAACAGGTACTCATAC	0.597																																						uc002xck.1		NaN																	0					0						c.(1117-1119)CTG>TTG		growth differentiation factor 5 preproprotein							95.0	97.0	96.0					20																	34022096		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022096G>A	BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.140G>A	20.37:g.34022096G>A	ENSP00000363495:p.Arg47Lys					GDF5_uc010gfc.1_Silent_p.L373L|uc002xcj.2_Silent_p.Q169Q|GDF5_uc010zvc.1_Silent_p.L373L	p.L373L	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1436	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		373		L -> R (in SYM1; the mature GDF5 protein is detected as the wild-type in the supernatant derived from the mutant transfected cells).			A6PVI8	Silent	SNP	ENST00000374375.1	37	c.1117C>T		.	.	.	.	.	.	.	.	.	.	G	8.747	0.920283	0.17982	.	.	ENSG00000204183	ENST00000374375	.	.	.	4.27	1.7	0.24286	.	.	.	.	.	T	0.62648	0.2445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61202	-0.7110	5	0.87932	D	0	.	7.4779	0.27387	0.4566:0.0:0.5434:0.0	.	.	.	.	K	47	.	ENSP00000363495:R47K	R	+	2	0	GDF5OS	33485510	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	2.933000	0.48948	0.199000	0.20427	0.313000	0.20887	AGG		0.597	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000125987.3				57	114	0	0	0	0.01441	0	57	114		
SAMHD1	25939	broad.mit.edu	37	20	35547851	35547851	+	Silent	SNP	T	T	C	rs140804613	byFrequency	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:35547851T>C	ENST00000262878.4	-	7	967	c.768A>G	c.(766-768)caA>caG	p.Q256Q	SAMHD1_ENST00000373694.5_Silent_p.Q41Q	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	256	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGAGACCATATTGTTCCATGA	0.358													T|||	3	0.000599042	0.0023	0.0	5008	,	,		17304	0.0		0.0	False		,,,				2504	0.0					uc002xgh.1		NaN																	0					0						c.(766-768)CAA>CAG		SAM domain- and HD domain-containing protein 1		T		6,4400	11.4+/-27.6	0,6,2197	114.0	106.0	109.0		768	-11.6	0.0	20	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	SAMHD1	NM_015474.3		0,6,6497	CC,CT,TT		0.0,0.1362,0.0461		256/627	35547851	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35547851T>C	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.768A>G	20.37:g.35547851T>C							p.Q256Q	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			7	898	-		Myeloproliferative disorder(115;0.00878)	256			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Silent	SNP	ENST00000262878.4	37	c.768A>G	CCDS13288.1																																																																																				0.358	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2		NM_015474		13	41	0	0	0	0.013537	0	13	41		
NFATC2	4773	broad.mit.edu	37	20	50139915	50139915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:50139915C>T	ENST00000396009.3	-	2	1084	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	NFATC2_ENST00000609507.1_Missense_Mutation_p.G70S|NFATC2_ENST00000609943.1_Missense_Mutation_p.G269S|NFATC2_ENST00000371564.3_Missense_Mutation_p.G289S|NFATC2_ENST00000414705.1_Missense_Mutation_p.G269S|NFATC2_ENST00000610033.1_Missense_Mutation_p.G70S	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	289					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCGGGGAGCCGTGGTCCTGG	0.711																																						uc002xwd.2		NaN																	0				ovary(2)	2						c.(865-867)GGC>AGC		nuclear factor of activated T-cells,							8.0	10.0	10.0					20																	50139915		2150	4230	6380	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139915C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.865G>A	20.37:g.50139915C>T	ENSP00000379330:p.Gly289Ser					NFATC2_uc002xwc.2_Missense_Mutation_p.G289S|NFATC2_uc010zyv.1_Missense_Mutation_p.G70S|NFATC2_uc010zyw.1_Missense_Mutation_p.G70S|NFATC2_uc010zyx.1_Missense_Mutation_p.G269S|NFATC2_uc010zyy.1_Missense_Mutation_p.G70S|NFATC2_uc010zyz.1_Missense_Mutation_p.G70S|NFATC2_uc002xwe.2_Missense_Mutation_p.G269S	p.G289S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	1085	-	Hepatocellular(150;0.248)		289					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.865G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	0.128	-1.117413	0.01799	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.76839	-1.05;-1.05;-1.05	5.03	3.04	0.35103	.	0.563892	0.18788	N	0.131150	T	0.53610	0.1807	N	0.11698	0.16	0.27787	N	0.942945	B;B;B;B	0.13594	0.002;0.008;0.002;0.001	B;B;B;B	0.11329	0.002;0.006;0.002;0.002	T	0.39981	-0.9587	10	0.02654	T	1	-11.3554	8.5629	0.33523	0.0:0.6711:0.0:0.3289	.	269;269;289;289	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	S	289;289;70;269	ENSP00000360619:G289S;ENSP00000379330:G289S;ENSP00000396471:G269S	ENSP00000360619:G289S	G	-	1	0	NFATC2	49573322	0.020000	0.18652	0.960000	0.40013	0.225000	0.24961	-0.002000	0.12924	0.492000	0.27815	0.305000	0.20034	GGC		0.711	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340		4	14	0	0	0	0.014758	0	4	14		
GABPA	2551	broad.mit.edu	37	21	27130395	27130395	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:27130395A>G	ENST00000354828.3	+	6	1155	c.628A>G	c.(628-630)Ata>Gta	p.I210V	GABPA_ENST00000400075.3_Missense_Mutation_p.I210V	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	210	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CATGACCGATATAGACCTCAC	0.438																																						uc002ylx.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(628-630)ATA>GTA		GA binding protein transcription factor, alpha							68.0	68.0	68.0					21																	27130395		2202	4280	6482	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27130395A>G		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.628A>G	21.37:g.27130395A>G	ENSP00000346886:p.Ile210Val					GABPA_uc002yly.3_Missense_Mutation_p.I210V	p.I210V	NM_002040	NP_002031	Q06546	GABPA_HUMAN			6	1155	+			210			PNT.		Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.628A>G	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.600657	0.46423	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.32515	1.45;1.45	5.39	5.39	0.77823	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.038343	0.85682	D	0.000000	T	0.18425	0.0442	N	0.12527	0.23	0.58432	D	0.999996	B	0.22800	0.075	B	0.26310	0.068	T	0.07693	-1.0759	10	0.09338	T	0.73	.	15.2357	0.73430	1.0:0.0:0.0:0.0	.	210	Q06546	GABPA_HUMAN	V	210	ENSP00000346886:I210V;ENSP00000382948:I210V	ENSP00000346886:I210V	I	+	1	0	GABPA	26052266	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	6.859000	0.75467	2.267000	0.75376	0.383000	0.25322	ATA		0.438	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1		NM_002040		11	68	0	0	0	0.013537	0	11	68		
CLDN8	9073	broad.mit.edu	37	21	31587705	31587705	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:31587705G>T	ENST00000399899.1	-	1	686	c.539C>A	c.(538-540)gCt>gAt	p.A180D	CLDN8_ENST00000286809.1_Missense_Mutation_p.A180D	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	180					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GCAGAACAGAGCTCCTCCAAC	0.453																																						uc002ynu.1		NaN																	0					0						c.(538-540)GCT>GAT		claudin 8							87.0	85.0	86.0					21																	31587705		2203	4300	6503	SO:0001583	missense	9073				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31587705G>T	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.539C>A	21.37:g.31587705G>T	ENSP00000382783:p.Ala180Asp						p.A180D	NM_199328	NP_955360	P56748	CLD8_HUMAN			1	614	-			180			Helical; (Potential).		D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	c.539C>A	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624899	0.28889	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.89270	-2.49;-2.49	5.01	5.01	0.66863	.	0.376241	0.27749	N	0.018017	D	0.92603	0.7650	M	0.90759	3.145	0.21697	N	0.999589	P	0.38129	0.619	P	0.46389	0.515	D	0.87931	0.2710	10	0.62326	D	0.03	.	11.9192	0.52783	0.0807:0.0:0.9193:0.0	.	180	P56748	CLD8_HUMAN	D	180	ENSP00000382783:A180D;ENSP00000286809:A180D	ENSP00000286809:A180D	A	-	2	0	CLDN8	30509576	0.000000	0.05858	0.746000	0.31095	0.016000	0.09150	0.185000	0.16958	2.768000	0.95171	0.650000	0.86243	GCT		0.453	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1		NM_199328		4	65	1	0	0.00909568	0.009096	0.00917594	4	65		
RIPK4	54101	broad.mit.edu	37	21	43161747	43161747	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:43161747C>T	ENST00000352483.2	-	9	1814	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	RIPK4_ENST00000332512.3_Missense_Mutation_p.E536K|RIPK4_ENST00000544709.1_Missense_Mutation_p.E473K|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.E473K			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	584					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCCGGCCCTCAAAGTCCACC	0.647																																						uc002yzn.1		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1606-1608)GAG>AAG		ankyrin repeat domain 3							64.0	54.0	58.0					21																	43161747		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161747C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1750G>A	21.37:g.43161747C>T	ENSP00000330161:p.Glu584Lys						p.E536K	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1654	-			536					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1606G>A		.	.	.	.	.	.	.	.	.	.	C	14.47	2.545348	0.45280	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	4.99	4.99	0.66335	.	0.087927	0.47455	D	0.000225	T	0.12390	0.0301	L	0.37800	1.135	0.34451	D	0.700682	B	0.31318	0.319	B	0.26416	0.069	T	0.20371	-1.0277	10	0.21014	T	0.42	-46.0233	10.8452	0.46739	0.0:0.9135:0.0:0.0865	.	536	P57078-2	.	K	536;584;473;473;275	ENSP00000332454:E536K;ENSP00000330161:E584K;ENSP00000441754:E473K;ENSP00000442901:E473K	ENSP00000330975:E275K	E	-	1	0	RIPK4	42034816	1.000000	0.71417	0.982000	0.44146	0.681000	0.39784	3.837000	0.55820	2.291000	0.77112	0.655000	0.94253	GAG		0.647	RIPK4-201	KNOWN	basic	protein_coding	protein_coding			NM_020639		17	47	0	0	0	0.00499	0	17	47		
UBASH3A	53347	broad.mit.edu	37	21	43836631	43836631	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:43836631G>C	ENST00000319294.6	+	6	779	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	UBASH3A_ENST00000398367.1_Missense_Mutation_p.E212Q|RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Missense_Mutation_p.E212Q	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	250					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAGGACGCTGGAGCAGCTGGC	0.597																																						uc002zbe.2		NaN																	0				ovary(3)	3						c.(748-750)GAG>CAG		ubiquitin associated and SH3 domain containing,							59.0	50.0	53.0					21																	43836631		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43836631G>C	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.748G>C	21.37:g.43836631G>C	ENSP00000317327:p.Glu250Gln					UBASH3A_uc002zbf.2_Missense_Mutation_p.E212Q|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.E212Q	p.E250Q	NM_018961	NP_061834	P57075	UBS3A_HUMAN			6	784	+			250					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.748G>C	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659300	0.88154	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.23754	2.94;1.89;2.77	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000031	T	0.54598	0.1868	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.60352	-0.7280	10	0.72032	D	0.01	-42.2489	18.4014	0.90518	0.0:0.0:1.0:0.0	.	212;212;250	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	Q	212;250;212	ENSP00000291535:E212Q;ENSP00000317327:E250Q;ENSP00000381408:E212Q	ENSP00000291535:E212Q	E	+	1	0	UBASH3A	42709700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.366000	0.79548	2.336000	0.79503	0.591000	0.81541	GAG		0.597	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		16	21	0	0	0	0.003163	0	16	21		
PFKL	5211	broad.mit.edu	37	21	45746744	45746744	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:45746744G>A	ENST00000349048.4	+	22	2397	c.2342G>A	c.(2341-2343)tGa>tAa	p.*781*	AP001062.8_ENST00000422357.1_RNA|PFKL_ENST00000403390.1_Silent_p.*828*	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	0					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AAGGGCTTCTGAGGCCAGCCA	0.667																																						uc002zel.2		NaN																	0					0						c.(2341-2343)TGA>TAA		liver phosphofructokinase							23.0	20.0	21.0					21																	45746744		2190	4298	6488	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45746744G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.2342G>A	21.37:g.45746744G>A						PFKL_uc002zek.2_Silent_p.*828*|PFKL_uc002zem.2_Silent_p.*368*|PFKL_uc002zen.2_Silent_p.*368*	p.*781*	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	22	2401	+			781					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.2342G>A	CCDS33582.1																																																																																				0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1				5	4	0	0	0	0.014758	0	5	4		
TRPM2	7226	broad.mit.edu	37	21	45811248	45811248	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:45811248G>A	ENST00000397928.1	+	11	1979	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	TRPM2_ENST00000397932.2_Missense_Mutation_p.E512K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E512K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.E512K	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	512					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						GCAGCTGAAGGAGTTTGTCAC	0.567																																						uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1534-1536)GAG>AAG		transient receptor potential cation channel,							154.0	113.0	127.0					21																	45811248		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45811248G>A	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.1534G>A	21.37:g.45811248G>A	ENSP00000381023:p.Glu512Lys					TRPM2_uc002zeu.1_Missense_Mutation_p.E512K|TRPM2_uc002zew.1_Missense_Mutation_p.E512K|TRPM2_uc010gpt.1_Missense_Mutation_p.E512K|TRPM2_uc002zex.1_Missense_Mutation_p.E298K|TRPM2_uc002zey.1_Missense_Mutation_p.E25K	p.E512K	NM_003307	NP_003298	O94759	TRPM2_HUMAN			12	1747	+			512			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1534G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963650	0.18583	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.09	5.09	0.68999	.	0.184196	0.46758	D	0.000268	T	0.29028	0.0721	N	0.17278	0.47	0.58432	D	0.999999	B;B;P	0.38551	0.445;0.356;0.636	B;B;B	0.32624	0.111;0.073;0.149	T	0.15263	-1.0443	10	0.07175	T	0.84	-28.2951	18.4697	0.90769	0.0:0.0:1.0:0.0	.	512;298;512	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	K	512	ENSP00000300482:E512K;ENSP00000381023:E512K;ENSP00000300481:E512K;ENSP00000381026:E512K	ENSP00000300481:E512K	E	+	1	0	TRPM2	44635676	1.000000	0.71417	0.987000	0.45799	0.044000	0.14063	6.914000	0.75764	2.368000	0.80403	0.655000	0.94253	GAG		0.567	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307		33	60	0	0	0	0.013726	0	33	60		
POTEH	23784	broad.mit.edu	37	22	16287675	16287675	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:16287675A>G	ENST00000343518.6	-	1	262	c.211T>C	c.(211-213)Tgg>Cgg	p.W71R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCCCTGCACCAGGGGAAGCAG	0.582																																						uc010gqp.2		NaN																	0				skin(1)	1						c.(211-213)TGG>CGG		ANKRD26-like family C, member 3							110.0	126.0	121.0					22																	16287675		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287675A>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.211T>C	22.37:g.16287675A>G	ENSP00000340610:p.Trp71Arg					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.W71R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	263	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.211T>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	1.797	-0.477986	0.04414	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.26810	1.71	.	.	.	.	.	.	.	.	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	P	0.37466	0.596	B	0.31290	0.127	T	0.17684	-1.0361	7	0.66056	D	0.02	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	R	71	ENSP00000340610:W71R	ENSP00000340610:W71R	W	-	1	0	POTEH	14667675	0.011000	0.17503	0.006000	0.13384	0.006000	0.05464	0.314000	0.19432	0.129000	0.18514	0.128000	0.15822	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4		NM_001136213		53	140	0	0	0	0.01441	0	53	140		
MRPL40	64976	broad.mit.edu	37	22	19423455	19423455	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:19423455G>C	ENST00000333130.3	+	4	1244	c.591G>C	c.(589-591)aaG>aaC	p.K197N	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	197					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ACATCACCAAGGTGTACACAC	0.502																																						uc002zpg.2		NaN																	0					0						c.(589-591)AAG>AAC		mitochondrial ribosomal protein L40 precursor							116.0	106.0	109.0					22																	19423455		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423455G>C	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.591G>C	22.37:g.19423455G>C	ENSP00000333401:p.Lys197Asn					HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zph.2_Missense_Mutation_p.K153N	p.K197N	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN			4	633	+	Colorectal(54;0.0993)		197					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.591G>C	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331970	0.41297	.	.	ENSG00000185608	ENST00000333130	T	0.52983	0.64	5.53	2.23	0.28157	.	0.102989	0.64402	D	0.000005	T	0.66247	0.2770	M	0.85542	2.76	0.45502	D	0.998462	D	0.76494	0.999	D	0.77557	0.99	T	0.67473	-0.5662	10	0.72032	D	0.01	-26.3156	7.4919	0.27466	0.4243:0.0:0.5757:0.0	.	197	Q9NQ50	RM40_HUMAN	N	197	ENSP00000333401:K197N	ENSP00000333401:K197N	K	+	3	2	MRPL40	17803455	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	1.675000	0.37555	0.898000	0.36418	0.655000	0.94253	AAG		0.502	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2		NM_003776		11	50	0	0	0	0.010729	0	11	50		
TCN2	6948	broad.mit.edu	37	22	31010392	31010392	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:31010392C>G	ENST00000215838.3	+	4	978	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	TCN2_ENST00000407817.3_Missense_Mutation_p.L135V|TCN2_ENST00000405742.3_Missense_Mutation_p.L158V			P20062	TCO2_HUMAN	transcobalamin II	162					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGGGCATTCTGGCCCTGTG	0.577																																						uc003aip.1		NaN																	0				central_nervous_system(1)	1						c.(484-486)CTG>GTG		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						106.0	82.0	90.0					22																	31010392		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31010392C>G		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.484C>G	22.37:g.31010392C>G	ENSP00000215838:p.Leu162Val					TCN2_uc003aiq.1_Missense_Mutation_p.L158V|TCN2_uc003air.1_Missense_Mutation_p.L135V	p.L162V	NM_000355	NP_000346	P20062	TCO2_HUMAN			4	642	+			162					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.484C>G	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162998	0.57476	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.58210	0.35;0.35;0.35	5.18	4.16	0.48862	.	0.069436	0.64402	D	0.000014	T	0.57475	0.2056	M	0.73962	2.25	0.80722	D	1	P;P;P	0.49783	0.928;0.796;0.796	P;B;B	0.48063	0.565;0.334;0.334	T	0.62959	-0.6743	10	0.59425	D	0.04	-10.416	10.2845	0.43558	0.0:0.9071:0.0:0.0929	.	135;158;162	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	V	162;158;135	ENSP00000215838:L162V;ENSP00000385914:L158V;ENSP00000384914:L135V	ENSP00000215838:L162V	L	+	1	2	TCN2	29340392	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.107000	0.41844	2.428000	0.82296	0.555000	0.69702	CTG		0.577	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2		NM_000355		29	25	0	0	0	0.007291	0	29	25		
CACNG2	10369	broad.mit.edu	37	22	37098579	37098579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:37098579C>T	ENST00000300105.6	-	1	1024	c.43G>A	c.(43-45)Gtt>Att	p.V15I	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	15					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AAAGCACCAACGGTGGTTAAA	0.478																																						uc003aps.1		NaN																	0					0						c.(43-45)GTT>ATT		voltage-dependent calcium channel gamma-2							162.0	150.0	154.0					22																	37098579		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|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|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:37098579C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.43G>A	22.37:g.37098579C>T	ENSP00000300105:p.Val15Ile					uc003apt.1_5'Flank	p.V15I	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			1	325	-			15			Helical; (Potential).		Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.43G>A	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.089880	0.76756	.	.	ENSG00000166862	ENST00000300105	D	0.90788	-2.73	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	D	0.88588	0.6477	M	0.65677	2.01	0.54753	D	0.999987	D	0.52996	0.957	B	0.36808	0.233	D	0.90547	0.4506	10	0.59425	D	0.04	-5.0317	17.8661	0.88795	0.0:1.0:0.0:0.0	.	15	Q9Y698	CCG2_HUMAN	I	15	ENSP00000300105:V15I	ENSP00000300105:V15I	V	-	1	0	CACNG2	35428525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.326000	0.79133	2.192000	0.70111	0.546000	0.68486	GTT		0.478	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2				57	60	0	0	0	0.01441	0	57	60		
MCHR1	2847	broad.mit.edu	37	22	41077323	41077323	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:41077323C>T	ENST00000249016.4	+	2	1356	c.660C>T	c.(658-660)tcC>tcT	p.S220S	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	220					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						CCATCTCTTCCACGAAGTTCC	0.587																																						uc003ayz.2		NaN																	0					0						c.(658-660)TCC>TCT		G protein-coupled receptor 24							159.0	133.0	142.0					22																	41077323		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.chr22:41077323C>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.660C>T	22.37:g.41077323C>T						MCHR1_uc003aza.2_Silent_p.S109S	p.S220S	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	928	+			220			Cytoplasmic (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.660C>T	CCDS14004.1																																																																																				0.587	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1		NM_005297		26	51	0	0	0	0.004656	0	26	51		
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						uc003bdy.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1135-1137)AGA>AAA		CAP-binding protein complex interacting protein							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	p.R379K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			11	1351	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785		13	24	0	0	0	0.016723	0	13	24		
CLASP2	23122	broad.mit.edu	37	3	33626305	33626305	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:33626305T>C	ENST00000468888.2	-	22	2225	c.2179A>G	c.(2179-2181)Aga>Gga	p.R727G	CLASP2_ENST00000399362.4_Missense_Mutation_p.R726G|CLASP2_ENST00000539981.1_Missense_Mutation_p.R496G|CLASP2_ENST00000480013.1_Missense_Mutation_p.R493G|CLASP2_ENST00000359576.5_Missense_Mutation_p.R726G|CLASP2_ENST00000307312.7_Missense_Mutation_p.R215G|CLASP2_ENST00000461133.3_Missense_Mutation_p.R493G			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	493					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCTTGCTTCTTTTTTGTGCT	0.473																																						uc003cfu.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2176-2178)AGA>GGA		CLIP-associating protein 2							77.0	77.0	77.0					3																	33626305		1911	4145	6056	SO:0001583	missense	23122							g.chr3:33626305T>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2179A>G	3.37:g.33626305T>C	ENSP00000419974:p.Arg727Gly					CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.R319G	p.R726G	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			22	2530	-			727					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2176A>G		.	.	.	.	.	.	.	.	.	.	T	15.58	2.875840	0.51695	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.21191	2.04;2.05;2.02	5.65	4.54	0.55810	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	M	0.62723	1.935	0.54753	D	0.999987	B;P	0.36249	0.224;0.545	B;B	0.38264	0.08;0.269	T	0.02751	-1.1115	10	0.16896	T	0.51	-13.7021	11.7384	0.51778	0.0:0.0:0.2387:0.7613	.	493;726	O75122;F5H604	CLAP2_HUMAN;.	G	727;726;726;215;496;493;493	ENSP00000419974:R727G;ENSP00000382297:R726G;ENSP00000352581:R726G	ENSP00000304743:R215G	R	-	1	2	CLASP2	33601309	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.655000	0.54460	2.156000	0.67533	0.533000	0.62120	AGA		0.473	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4		NM_001207044		31	38	0	0	0	0.008361	0	31	38		
SCN10A	6336	broad.mit.edu	37	3	38743492	38743492	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:38743492C>G	ENST00000449082.2	-	26	4494	c.4495G>C	c.(4495-4497)Gac>Cac	p.D1499H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1499					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCACTTTGGTCATCAGTCTCC	0.458																																						uc003ciq.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4495-4497)GAC>CAC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						151.0	132.0	138.0					3																	38743492		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743492C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4495G>C	3.37:g.38743492C>G	ENSP00000390600:p.Asp1499His						p.D1499H	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4495	-			1499			IV.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4495G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015196	0.35511	.	.	ENSG00000185313	ENST00000449082	D	0.97480	-4.4	4.71	0.466	0.16716	.	0.730351	0.13422	N	0.389096	D	0.96565	0.8879	M	0.86953	2.85	0.31869	N	0.620013	P	0.39717	0.684	B	0.40477	0.33	D	0.95118	0.8244	10	0.87932	D	0	.	10.6498	0.45642	0.0:0.6811:0.0:0.3189	.	1499	Q9Y5Y9	SCNAA_HUMAN	H	1499	ENSP00000390600:D1499H	ENSP00000390600:D1499H	D	-	1	0	SCN10A	38718496	0.990000	0.36364	0.048000	0.18961	0.740000	0.42216	1.243000	0.32767	0.188000	0.20168	0.557000	0.71058	GAC		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514		31	89	0	0	0	0.009535	0	31	89		
SCN10A	6336	broad.mit.edu	37	3	38743576	38743576	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:38743576C>G	ENST00000449082.2	-	26	4410	c.4411G>C	c.(4411-4413)Gac>Cac	p.D1471H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1471					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTCACGATGTCAAAGACAAAA	0.458																																						uc003ciq.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4411-4413)GAC>CAC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						96.0	86.0	90.0					3																	38743576		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743576C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4411G>C	3.37:g.38743576C>G	ENSP00000390600:p.Asp1471His						p.D1471H	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4411	-			1471			IV.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4411G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636407	0.67130	.	.	ENSG00000185313	ENST00000449082	D	0.96232	-3.95	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	H	0.96720	3.87	0.48452	D	0.999653	D	0.89917	1.0	D	0.69654	0.965	D	0.99123	1.0850	10	0.87932	D	0	.	12.9787	0.58552	0.0:0.9189:0.0:0.0811	.	1471	Q9Y5Y9	SCNAA_HUMAN	H	1471	ENSP00000390600:D1471H	ENSP00000390600:D1471H	D	-	1	0	SCN10A	38718580	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	5.864000	0.69575	2.364000	0.80123	0.557000	0.71058	GAC		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514		17	80	0	0	0	0.007413	0	17	80		
SCN10A	6336	broad.mit.edu	37	3	38743601	38743601	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:38743601C>G	ENST00000449082.2	-	26	4386		c.e26-1			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGAACTTGTTCTGAGAAAACA	0.468																																						uc003ciq.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.e26-1		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						67.0	61.0	63.0					3																	38743601		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743601C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4387-1G>C	3.37:g.38743601C>G							p.N1463_splice	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4387	-								A6NDQ1	Splice_Site	SNP	ENST00000449082.2	37	c.4387_splice	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119788	0.77323	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5207	0.87786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN10A	38718605	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.604000	0.82830	2.364000	0.80123	0.557000	0.71058	.		0.468	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514	Intron	16	66	0	0	0	0.00499	0	16	66		
NKTR	4820	broad.mit.edu	37	3	42678832	42678832	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:42678832C>G	ENST00000232978.8	+	13	1824	c.1636C>G	c.(1636-1638)Cga>Gga	p.R546G	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	546	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)		ATCACATTCTCGAAGTAGATC	0.418																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(1636-1638)CGA>GGA		natural killer-tumor recognition sequence							90.0	97.0	94.0					3																	42678832		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42678832C>G		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.1636C>G	3.37:g.42678832C>G	ENSP00000232978:p.Arg546Gly					NKTR_uc003clm.1_Missense_Mutation_p.R293G|NKTR_uc003clp.2_Missense_Mutation_p.R293G|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R436G|NKTR_uc003clr.1_Missense_Mutation_p.R293G|NKTR_uc003cls.2_Missense_Mutation_p.R246G	p.R546G	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	1783	+			546			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.1636C>G	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328019	0.24080	.	.	ENSG00000114857	ENST00000232978	T	0.14266	2.52	5.63	4.75	0.60458	.	0.730226	0.12904	N	0.429573	T	0.17365	0.0417	L	0.48642	1.525	0.30649	N	0.75567	P;B	0.35844	0.524;0.389	B;B	0.38378	0.272;0.09	T	0.06338	-1.0832	10	0.72032	D	0.01	1.6057	13.311	0.60380	0.4082:0.5918:0.0:0.0	.	246;546	Q6M1B8;P30414	.;NKTR_HUMAN	G	546	ENSP00000232978:R546G	ENSP00000232978:R546G	R	+	1	2	NKTR	42653836	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	2.360000	0.44151	1.370000	0.46153	0.591000	0.81541	CGA		0.418	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		39	117	0	0	0	0.005524	0	39	117		
IQCF2	389123	broad.mit.edu	37	3	51895685	51895685	+	Start_Codon_SNP	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:51895685G>C	ENST00000333127.3	+	1	32	c.3G>C	c.(1-3)atG>atC	p.M1I	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	1										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACAGGCCATGAGGGTTCGAT	0.483																																						uc003dbt.1		NaN																	0					0						c.(1-3)ATG>ATC		IQ motif containing F2							123.0	108.0	113.0					3																	51895685		2203	4300	6503	SO:0001582	initiator_codon_variant	389123							g.chr3:51895685G>C	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.3G>C	3.37:g.51895685G>C	ENSP00000329904:p.Met1Ile					IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	p.M1I	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	41	+			1						Missense_Mutation	SNP	ENST00000333127.3	37	c.3G>C	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	g	19.21	3.783214	0.70222	.	.	ENSG00000184345	ENST00000333127	T	0.28666	1.6	4.37	3.5	0.40072	.	0.108901	0.41938	D	0.000789	T	0.25419	0.0618	.	.	.	0.80722	D	1	P	0.43826	0.818	B	0.39419	0.299	T	0.06267	-1.0836	9	0.87932	D	0	-37.7793	8.538	0.33375	0.1041:0.0:0.8959:0.0	.	1	Q8IXL9	IQCF2_HUMAN	I	1	ENSP00000329904:M1I	ENSP00000329904:M1I	M	+	3	0	IQCF2	51870725	0.992000	0.36948	0.327000	0.25402	0.437000	0.31866	3.593000	0.54001	1.452000	0.47756	0.555000	0.69702	ATG		0.483	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1		NM_203424	Missense_Mutation	18	26	0	0	0	0.010504	0	18	26		
FLNB	2317	broad.mit.edu	37	3	58088057	58088057	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:58088057G>A	ENST00000295956.4	+	9	1638	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	FLNB_ENST00000357272.4_Missense_Mutation_p.M491I|FLNB_ENST00000429972.2_Missense_Mutation_p.M491I|FLNB_ENST00000348383.5_Missense_Mutation_p.M491I|FLNB_ENST00000490882.1_Missense_Mutation_p.M491I|FLNB_ENST00000358537.3_Missense_Mutation_p.M491I|FLNB_ENST00000419752.2_Missense_Mutation_p.M322I|FLNB_ENST00000493452.1_Missense_Mutation_p.M322I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	491					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGTAACCATGAAGGGTCCTA	0.522																																						uc003djj.2		NaN																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(1471-1473)ATG>ATA		filamin B isoform 2							155.0	150.0	151.0					3																	58088057		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58088057G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1473G>A	3.37:g.58088057G>A	ENSP00000295956:p.Met491Ile					FLNB_uc010hne.2_Missense_Mutation_p.M491I|FLNB_uc003djk.2_Missense_Mutation_p.M491I|FLNB_uc010hnf.2_Missense_Mutation_p.M491I|FLNB_uc003djl.2_Missense_Mutation_p.M322I|FLNB_uc003djm.2_Missense_Mutation_p.M322I	p.M491I	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	9	1638	+			491			Filamin 3.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.1473G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	7.471	0.646643	0.14516	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.43	-0.369	0.12534	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.320979	0.34338	N	0.004047	T	0.55033	0.1895	N	0.00278	-1.715	0.09310	N	0.999994	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.59490	-0.7445	10	0.15952	T	0.53	.	2.8632	0.05593	0.2359:0.395:0.2674:0.1016	.	491;491;322;322;491;491	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	I	491;491;491;491;491;491;322;322	ENSP00000295956:M491I;ENSP00000420213:M491I;ENSP00000351339:M491I;ENSP00000415599:M491I;ENSP00000232447:M491I;ENSP00000349819:M491I;ENSP00000418510:M322I;ENSP00000414532:M322I	ENSP00000295956:M491I	M	+	3	0	FLNB	58063097	0.906000	0.30813	0.802000	0.32245	0.060000	0.15804	0.067000	0.14510	0.071000	0.16664	-0.186000	0.12905	ATG		0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		35	47	0	0	0	0.013726	0	35	47		
IMPG2	50939	broad.mit.edu	37	3	100992518	100992518	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:100992518G>A	ENST00000193391.7	-	7	922	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	245	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGTGGATACTGAATTCTGCAA	0.403																																						uc003duq.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(733-735)TTC>TTT		interphotoreceptor matrix proteoglycan 2							168.0	151.0	157.0					3																	100992518		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100992518G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.735C>T	3.37:g.100992518G>A						IMPG2_uc011bhe.1_Silent_p.F108F	p.F245F	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			7	938	-			245			Extracellular (Potential).|SEA 1.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.735C>T	CCDS2940.1																																																																																				0.403	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3				11	24	0	0	0	0.008291	0	11	24		
COPG1	22820	broad.mit.edu	37	3	128979195	128979195	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:128979195C>T	ENST00000314797.6	+	11	995	c.891C>T	c.(889-891)agC>agT	p.S297S		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	297					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TTTTCTGCAGCTCACCCAAGG	0.562																																						uc003els.2		NaN																	0				ovary(3)|breast(1)	4						c.(889-891)AGC>AGT		coatomer protein complex, subunit gamma 1							144.0	130.0	135.0					3																	128979195		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128979195C>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.891C>T	3.37:g.128979195C>T						COPG_uc010htb.2_Silent_p.S203S	p.S297S	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			11	991	+			297			HEAT 2.		A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.891C>T	CCDS33851.1																																																																																				0.562	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1		NM_016128		21	101	0	0	0	0.021523	0	21	101		
SLCO2A1	6578	broad.mit.edu	37	3	133698434	133698434	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:133698434T>A	ENST00000310926.4	-	2	398	c.125A>T	c.(124-126)cAg>cTg	p.Q42L	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.Q42L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	42					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TTGGCAGAGCTGCAGGAGGCC	0.587																																						uc003eqa.3		NaN																	0				central_nervous_system(1)	1						c.(124-126)CAG>CTG		solute carrier organic anion transporter family,							94.0	87.0	89.0					3																	133698434		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133698434T>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.125A>T	3.37:g.133698434T>A	ENSP00000311291:p.Gln42Leu					SLCO2A1_uc003eqb.3_Missense_Mutation_p.Q42L|SLCO2A1_uc011blv.1_Missense_Mutation_p.Q42L|SLCO2A1_uc010htw.1_5'UTR	p.Q42L	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			2	399	-			42			Helical; Name=1; (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.125A>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.884389	0.91814	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.57595	0.39;0.39	5.06	5.06	0.68205	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.65320	2	0.39156	D	0.962322	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.67921	-0.5545	10	0.27785	T	0.31	.	14.8147	0.70024	0.0:0.0:0.0:1.0	.	42;42;42	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	L	42	ENSP00000311291:Q42L;ENSP00000418893:Q42L	ENSP00000311291:Q42L	Q	-	2	0	SLCO2A1	135181124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.662000	0.83803	1.905000	0.55150	0.459000	0.35465	CAG		0.587	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1		NM_005630		27	74	0	0	0	0.00632	0	27	74		
STAG1	10274	broad.mit.edu	37	3	136192446	136192446	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:136192446G>C	ENST00000383202.2	-	11	1316	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V	STAG1_ENST00000236698.5_Missense_Mutation_p.L354V|STAG1_ENST00000434713.2_Missense_Mutation_p.L128V|STAG1_ENST00000536929.1_5'Flank	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	354	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGACTCTGCAGAGCTTTCAAA	0.338																																						uc003era.1		NaN																	0				ovary(2)	2						c.(1060-1062)CTG>GTG		stromal antigen 1							86.0	89.0	88.0					3																	136192446		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136192446G>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1060C>G	3.37:g.136192446G>C	ENSP00000372689:p.Leu354Val					STAG1_uc003erb.1_Missense_Mutation_p.L354V|STAG1_uc003erc.1_Missense_Mutation_p.L128V|STAG1_uc010hua.1_Missense_Mutation_p.L217V	p.L354V	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			11	1352	-			354			SCD.		O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.1060C>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015447	0.54468	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.55052	0.54;0.54;0.54	5.7	5.7	0.88788	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.92923	3.36	0.80722	D	1	P;D;P	0.59357	0.75;0.985;0.75	P;P;P	0.57244	0.634;0.816;0.634	T	0.78863	-0.2036	10	0.72032	D	0.01	.	10.2766	0.43515	0.1463:0.0:0.8537:0.0	.	371;354;354	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	V	354;354;128	ENSP00000372689:L354V;ENSP00000236698:L354V;ENSP00000404396:L128V	ENSP00000236698:L354V	L	-	1	2	STAG1	137675136	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.579000	0.53900	2.678000	0.91216	0.655000	0.94253	CTG		0.338	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862		22	49	0	0	0	0.014323	0	22	49		
PLOD2	5352	broad.mit.edu	37	3	145790403	145790403	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:145790403T>A	ENST00000360060.3	-	16	1907	c.1730A>T	c.(1729-1731)gAt>gTt	p.D577V	PLOD2_ENST00000282903.5_Missense_Mutation_p.D598V|PLOD2_ENST00000494950.1_Missense_Mutation_p.D543V|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.D258V	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	577					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TACCAATTCATCACAGGCTTT	0.363																																						uc003evs.1		NaN																	0				ovary(1)|skin(1)	2						c.(1729-1731)GAT>GTT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						106.0	97.0	100.0					3																	145790403		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding	g.chr3:145790403T>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1730A>T	3.37:g.145790403T>A	ENSP00000353170:p.Asp577Val					PLOD2_uc003evq.1_Missense_Mutation_p.D258V|PLOD2_uc011bnm.1_Missense_Mutation_p.D543V|PLOD2_uc003evr.1_Missense_Mutation_p.D598V	p.D577V	NM_000935	NP_000926	O00469	PLOD2_HUMAN			16	2236	-			577					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1730A>T	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764005	0.89932	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.92	5.92	0.95590	Prolyl 4-hydroxylase, alpha subunit (1);	0.093530	0.64402	D	0.000001	D	0.93861	0.8036	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.67145	0.973;0.996;0.995;0.991	P;D;D;D	0.71184	0.674;0.955;0.972;0.939	D	0.94343	0.7572	10	0.59425	D	0.04	-21.5182	16.3662	0.83325	0.0:0.0:0.0:1.0	.	543;577;598;258	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	V	258;598;577;543	ENSP00000419354:D258V;ENSP00000282903:D598V;ENSP00000353170:D577V;ENSP00000420094:D543V	ENSP00000282903:D598V	D	-	2	0	PLOD2	147273093	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	6.201000	0.72124	2.274000	0.75844	0.533000	0.62120	GAT		0.363	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1		NM_000935		12	39	0	0	0	0.016723	0	12	39		
ZIC1	7545	broad.mit.edu	37	3	147128322	147128322	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:147128322C>G	ENST00000282928.4	+	1	1152	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	141					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGGCCACCTCCTCTTCCCCG	0.726																																						uc003ewe.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(421-423)CTC>CTG		zinc finger protein of the cerebellum 1							11.0	15.0	14.0					3																	147128322		2189	4286	6475	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128322C>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.423C>G	3.37:g.147128322C>G							p.L141L	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1142	+			141					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.423C>G	CCDS3136.1																																																																																				0.726	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1		NM_003412		3	18	0	0	0	0.004672	0	3	18		
TNIK	23043	broad.mit.edu	37	3	170858210	170858210	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:170858210C>T	ENST00000436636.2	-	13	1654	c.1310G>A	c.(1309-1311)aGg>aAg	p.R437K	TNIK_ENST00000284483.8_Missense_Mutation_p.R437K|TNIK_ENST00000369326.5_Missense_Mutation_p.R437K|TNIK_ENST00000341852.6_Missense_Mutation_p.R437K|TNIK_ENST00000460047.1_Missense_Mutation_p.R437K|TNIK_ENST00000488470.1_Missense_Mutation_p.R437K|TNIK_ENST00000538048.1_Missense_Mutation_p.R437K|TNIK_ENST00000470834.1_Missense_Mutation_p.R437K|TNIK_ENST00000475336.1_Missense_Mutation_p.R437K|TNIK_ENST00000357327.5_Missense_Mutation_p.R437K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	437	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CGCACGCCTCCTCTCCTCCTC	0.662																																						uc003fhh.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(1309-1311)AGG>AAG		TRAF2 and NCK interacting kinase isoform 1							93.0	102.0	99.0					3																	170858210		2058	4196	6254	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170858210C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1310G>A	3.37:g.170858210C>T	ENSP00000399511:p.Arg437Lys					TNIK_uc003fhi.2_Missense_Mutation_p.R437K|TNIK_uc003fhj.2_Missense_Mutation_p.R437K|TNIK_uc003fhk.2_Missense_Mutation_p.R437K|TNIK_uc003fhl.2_Missense_Mutation_p.R437K|TNIK_uc003fhm.2_Missense_Mutation_p.R437K|TNIK_uc003fhn.2_Missense_Mutation_p.R437K|TNIK_uc003fho.2_Missense_Mutation_p.R437K	p.R437K	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		13	1655	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		437			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1310G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642877	0.47153	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.07;1.01;1.07;1.01;1.07;1.07;1.01;1.01;1.07	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	L	0.55481	1.735	0.58432	D	0.999999	P;P;P;P;P;P;P;P	0.47910	0.902;0.902;0.902;0.902;0.902;0.902;0.902;0.841	D;D;D;D;D;D;D;P	0.63033	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.815	T	0.48864	-0.8997	10	0.25751	T	0.34	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	437;437;437;437;437;437;437;437	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	K	437	ENSP00000399511:R437K;ENSP00000358332:R437K;ENSP00000443278:R437K;ENSP00000345352:R437K;ENSP00000284483:R437K;ENSP00000418156:R437K;ENSP00000349880:R437K;ENSP00000418916:R437K;ENSP00000418378:R437K;ENSP00000419990:R437K	ENSP00000284483:R437K	R	-	2	0	TNIK	172340904	1.000000	0.71417	0.992000	0.48379	0.447000	0.32167	7.627000	0.83176	2.608000	0.88229	0.650000	0.86243	AGG		0.662	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2		XM_039796		52	108	0	0	0	0.01441	0	52	108		
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CTT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047L	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				41	55	0	0	0	0.005524	0	41	55		
HGFAC	3083	broad.mit.edu	37	4	3446124	3446124	+	Missense_Mutation	SNP	G	G	C	rs138611679		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:3446124G>C	ENST00000382774.3	+	6	800	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	HGFAC_ENST00000511533.1_Missense_Mutation_p.E229Q	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	229	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGAACAGTGCGAGTGCTTCGG	0.677																																						uc003ghc.2		NaN																	0				central_nervous_system(2)	2						c.(685-687)GAG>CAG		HGF activator preproprotein							12.0	14.0	14.0					4																	3446124		2182	4288	6470	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446124G>C	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.685G>C	4.37:g.3446124G>C	ENSP00000372224:p.Glu229Gln					HGFAC_uc010icw.2_Missense_Mutation_p.E229Q	p.E229Q	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	6	688	+			229			Fibronectin type-I.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.685G>C	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	g	0.017	-1.501868	0.00992	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	T;T	0.40476	1.03;1.03	3.74	-7.19	0.01500	Fibronectin, type I (4);	1.579030	0.04011	N	0.298113	T	0.28797	0.0714	L	0.47716	1.5	0.09310	N	1	B;B	0.15141	0.012;0.0	B;B	0.15484	0.011;0.013	T	0.22556	-1.0213	10	0.09590	T	0.72	.	7.0638	0.25141	0.4975:0.3456:0.1569:0.0	.	229;229	D6RAR4;Q04756	.;HGFA_HUMAN	Q	229	ENSP00000372224:E229Q;ENSP00000421801:E229Q	ENSP00000372224:E229Q	E	+	1	0	HGFAC	3415922	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.369000	0.07533	-1.772000	0.01292	-1.222000	0.01597	GAG		0.677	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3				3	6	0	0	0	0.004672	0	3	6		
RELL1	768211	broad.mit.edu	37	4	37687844	37687844	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:37687844C>T	ENST00000454158.2	-	1	154	c.66G>A	c.(64-66)gtG>gtA	p.V22V	RELL1_ENST00000314117.4_Silent_p.V22V	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	22						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						GCGGCGAACTCACGGCGCCTC	0.761																																						uc003gsz.2		NaN																	0					0						c.(64-66)GTG>GTA		receptor expressed in lymphoid tissues like 1							7.0	11.0	10.0					4																	37687844		1869	4008	5877	SO:0001819	synonymous_variant	768211					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane		g.chr4:37687844C>T	AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.66G>A	4.37:g.37687844C>T						RELL1_uc010ifc.2_Silent_p.V22V	p.V22V	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN			1	156	-			22					Q8NBK1	Silent	SNP	ENST00000454158.2	37	c.66G>A	CCDS43221.1																																																																																				0.761	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1		NM_001085400		3	8	0	0	0	0.014758	0	3	8		
AASDH	132949	broad.mit.edu	37	4	57221444	57221444	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:57221444T>C	ENST00000205214.6	-	6	1187	c.1007A>G	c.(1006-1008)aAt>aGt	p.N336S	AASDH_ENST00000502617.1_Missense_Mutation_p.N336S|AASDH_ENST00000602986.1_Missense_Mutation_p.N183S|AASDH_ENST00000451613.1_Missense_Mutation_p.N336S|AASDH_ENST00000513376.1_Missense_Mutation_p.N236S|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000510762.1_5'Flank	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	336					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTGTGTTTTATTGCCTTCTCC	0.403																																						uc003hbn.2		NaN																	0				ovary(4)	4						c.(1006-1008)AAT>AGT		aminoadipate-semialdehyde dehydrogenase							115.0	104.0	108.0					4																	57221444		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57221444T>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1007A>G	4.37:g.57221444T>C	ENSP00000205214:p.Asn336Ser					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.N183S|AASDH_uc003hbo.2_Missense_Mutation_p.N236S|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.N336S|AASDH_uc003hbp.2_Missense_Mutation_p.N336S	p.N336S	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			6	1160	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	336					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.1007A>G	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.768994	0.90020	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.49720	0.77;0.77;2.89;0.77	5.68	5.68	0.88126	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	L	0.39514	1.22	0.58432	D	0.99999	D;D;D;D	0.89917	0.988;1.0;1.0;1.0	P;D;D;D	0.85130	0.889;0.997;0.994;0.997	T	0.54892	-0.8225	10	0.27082	T	0.32	-26.7687	15.9325	0.79675	0.0:0.0:0.0:1.0	.	183;336;336;336	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	S	336;236;336;183;336	ENSP00000205214:N336S;ENSP00000423760:N236S;ENSP00000409656:N336S;ENSP00000421171:N336S	ENSP00000205214:N336S	N	-	2	0	AASDH	56916201	1.000000	0.71417	0.962000	0.40283	0.968000	0.65278	7.261000	0.78400	2.169000	0.68431	0.528000	0.53228	AAT		0.403	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1		NM_181806		31	139	0	0	0	0.010818	0	31	139		
ENAM	10117	broad.mit.edu	37	4	71500192	71500193	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:71500192_71500193CC>AA	ENST00000396073.3	+	6	659_660	c.378_379CC>AA	c.(376-381)aaCCag>aaAAag	p.126_127NQ>KK		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	126					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGAAACCCAACCAGACTCAGTC	0.52																																						uc011caw.1		NaN																	0				ovary(3)	3						c.(376-381)AACCAG>AAAAAG		enamelin precursor																																				SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71500192_71500193CC>AA	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	Exception_encountered	4.37:g.71500192_71500193delinsAA	ENSP00000379383:p.N126_Q127delinsKK						p.126_127NQ>KK	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		6	659_660	+			126_127					Q17RI5|Q9H3D1	Missense_Mutation	DNP	ENST00000396073.3	37	c.378_379CC>AA	CCDS3544.2																																																																																				0.520	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3		NM_031889		11	24	0	0	0	0.004672	0	11	24		
ENAM	10117	broad.mit.edu	37	4	71500195	71500195	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:71500195G>A	ENST00000396073.3	+	6	662	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	127					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACCCAACCAGACTCAGTCAA	0.522																																						uc011caw.1		NaN																	0				ovary(3)	3						c.(379-381)CAG>CAA		enamelin precursor							94.0	100.0	98.0					4																	71500195		2203	4296	6499	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71500195G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.381G>A	4.37:g.71500195G>A							p.Q127Q	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		6	662	+			127					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.381G>A	CCDS3544.2																																																																																				0.522	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3		NM_031889		11	23	0	0	0	0.012319	0	11	23		
GK2	2712	broad.mit.edu	37	4	80328580	80328580	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:80328580C>T	ENST00000358842.3	-	1	792	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCACATTGGTCCCCCAAACAC	0.458																																						uc003hlu.2		NaN																	0				ovary(2)|skin(2)	4						c.(775-777)GAC>AAC		glycerol kinase 2							99.0	94.0	96.0					4																	80328580		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328580C>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.775G>A	4.37:g.80328580C>T	ENSP00000351706:p.Asp259Asn						p.D259N	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	793	-			259				Substrate (By similarity).	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.775G>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373014	0.61624	.	.	ENSG00000196475	ENST00000358842	D	0.85088	-1.94	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93043	0.6459	10	0.62326	D	0.03	-12.1523	14.2359	0.65927	0.0:1.0:0.0:0.0	.	259	Q14410	GLPK2_HUMAN	N	259	ENSP00000351706:D259N	ENSP00000351706:D259N	D	-	1	0	GK2	80547604	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.457000	0.53007	2.496000	0.84212	0.585000	0.79938	GAC		0.458	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2		NM_033214		29	68	0	0	0	0.00632	0	29	68		
GALNTL6	442117	broad.mit.edu	37	4	173150860	173150860	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:173150860G>C	ENST00000506823.1	+	3	849	c.192G>C	c.(190-192)ttG>ttC	p.L64F	GALNTL6_ENST00000508122.1_Missense_Mutation_p.L47F	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	64					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CAGATGGTTTGAGAAGAAAGG	0.443																																						uc003isv.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(190-192)TTG>TTC		N-acetylgalactosaminyltransferase-like 6							122.0	106.0	111.0					4																	173150860		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173150860G>C		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.192G>C	4.37:g.173150860G>C	ENSP00000423313:p.Leu64Phe						p.L64F	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			3	928	+			64			Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.192G>C	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642676	0.29246	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.57107	0.46;0.42	5.73	3.96	0.45880	.	0.308056	0.17967	N	0.155992	T	0.36138	0.0956	N	0.25890	0.77	0.34613	D	0.717778	P	0.47910	0.902	P	0.45037	0.467	T	0.38824	-0.9643	10	0.08599	T	0.76	.	6.0793	0.19933	0.1635:0.0:0.689:0.1476	.	64	Q49A17	GLTL6_HUMAN	F	64;64;47	ENSP00000423313:L64F;ENSP00000423827:L47F	ENSP00000385382:L64F	L	+	3	2	GALNTL6	173387435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.418000	0.44662	0.717000	0.32145	0.655000	0.94253	TTG		0.443	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1		NM_001034845		7	23	0	0	0	0.00308	0	7	23		
BRD9	65980	broad.mit.edu	37	5	887497	887497	+	Silent	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:887497T>A	ENST00000467963.1	-	6	862	c.696A>T	c.(694-696)gcA>gcT	p.A232A	BRD9_ENST00000388890.4_Silent_p.A116A|BRD9_ENST00000323510.4_Silent_p.A116A|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000483173.1_Silent_p.A179A|BRD9_ENST00000435709.2_Silent_p.A116A	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	232					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCTTAAAGCCTGCGTGAAGGA	0.498																																						uc003jbq.2		NaN																	0					0						c.(694-696)GCA>GCT		bromodomain containing 9 isoform 1							192.0	178.0	182.0					5																	887497		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:887497T>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.696A>T	5.37:g.887497T>A						BRD9_uc003jbl.2_Silent_p.A116A|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.A179A|BRD9_uc003jbo.2_Silent_p.A116A|BRD9_uc011cmc.1_RNA	p.A232A	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		6	863	-			232					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.696A>T	CCDS34127.2																																																																																				0.498	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1		NM_023924		23	130	0	0	0	0.005443	0	23	130		
LPCAT1	79888	broad.mit.edu	37	5	1479749	1479749	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:1479749T>A	ENST00000283415.3	-	8	935	c.803A>T	c.(802-804)cAa>cTa	p.Q268L		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	268					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GATTTCCACTTGGTTGTGAAA	0.448											OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jcm.2		NaN																	0				ovary(2)	2						c.(802-804)CAA>CTA		lysophosphatidylcholine acyltransferase 1							177.0	130.0	146.0					5																	1479749		2203	4300	6503	SO:0001583	missense	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1479749T>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.803A>T	5.37:g.1479749T>A	ENSP00000283415:p.Gln268Leu		OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596		p.Q268L	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	8	920	-			268			Lumenal (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	c.803A>T	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	T	3.978	-0.007057	0.07773	.	.	ENSG00000153395	ENST00000283415	D	0.92752	-3.1	3.71	-2.18	0.07037	.	0.834236	0.11004	N	0.610200	D	0.82412	0.5031	L	0.38531	1.155	0.21220	N	0.999756	B	0.12630	0.006	B	0.04013	0.001	T	0.65541	-0.6143	10	0.11485	T	0.65	-1.4261	3.8345	0.08888	0.2166:0.3281:0.0:0.4553	.	268	Q8NF37	PCAT1_HUMAN	L	268	ENSP00000283415:Q268L	ENSP00000283415:Q268L	Q	-	2	0	LPCAT1	1532749	0.006000	0.16342	0.317000	0.25265	0.639000	0.38242	-0.226000	0.09139	-0.139000	0.11414	0.459000	0.35465	CAA		0.448	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1		NM_024830		11	26	0	0	0	0.008291	0	11	26		
IRX4	50805	broad.mit.edu	37	5	1879903	1879903	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:1879903G>A	ENST00000505790.1	-	5	907	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IRX4_ENST00000231357.2_Missense_Mutation_p.R151C|IRX4_ENST00000513692.1_Missense_Mutation_p.R151C|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	151					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTGGTCTCGCGCGTGGCGTTC	0.637																																						uc003jcz.2		NaN																	0					0						c.(451-453)CGC>TGC		iroquois homeobox 4							127.0	95.0	106.0					5																	1879903		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879903G>A	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.451C>T	5.37:g.1879903G>A	ENSP00000423161:p.Arg151Cys					IRX4_uc011cmf.1_Missense_Mutation_p.R12C	p.R151C	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	4	570	-			151			Homeobox; TALE-type.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.451C>T	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509935	0.85282	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;T	0.84370	-1.84;-1.84;-1.84;-0.39	4.55	3.64	0.41730	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93692	0.7008	10	0.87932	D	0	-27.2035	12.7693	0.57410	0.0:0.0:0.8352:0.1647	.	151	P78413	IRX4_HUMAN	C	151;151;151;177	ENSP00000231357:R151C;ENSP00000423161:R151C;ENSP00000424235:R151C;ENSP00000421772:R177C	ENSP00000231357:R151C	R	-	1	0	IRX4	1932903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.297000	0.59061	2.067000	0.61834	0.462000	0.41574	CGC		0.637	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1		NM_016358		21	38	0	0	0	0.010504	0	21	38		
ROPN1L	83853	broad.mit.edu	37	5	10461368	10461368	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:10461368C>T	ENST00000503804.1	+	5	1011	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.P164S			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	164					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGCTCGCATCCCCTTCAAGAC	0.567																																						uc003jex.3		NaN																	0				ovary(1)	1						c.(490-492)CCC>TCC		ropporin 1-like							120.0	108.0	112.0					5																	10461368		2203	4300	6503	SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10461368C>T	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.490C>T	5.37:g.10461368C>T	ENSP00000421405:p.Pro164Ser						p.P164S	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			4	761	+			164					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.490C>T	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410639	0.25465	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.23552	1.9;1.9	4.9	4.02	0.46733	.	0.114128	0.64402	N	0.000010	T	0.26882	0.0658	M	0.72576	2.205	0.48571	D	0.999674	B	0.31503	0.326	B	0.25759	0.063	T	0.06972	-1.0797	10	0.56958	D	0.05	-4.5236	10.7967	0.46464	0.0:0.9088:0.0:0.0912	.	164	Q96C74	ROP1L_HUMAN	S	164	ENSP00000421405:P164S;ENSP00000274134:P164S	ENSP00000274134:P164S	P	+	1	0	ROPN1L	10514368	1.000000	0.71417	0.373000	0.26003	0.041000	0.13682	3.533000	0.53561	1.039000	0.40074	0.563000	0.77884	CCC		0.567	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1		NM_031916		18	105	0	0	0	0.00499	0	18	105		
LMBRD2	92255	broad.mit.edu	37	5	36143342	36143342	+	Missense_Mutation	SNP	C	C	G	rs200304600		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:36143342C>G	ENST00000296603.4	-	2	572	c.110G>C	c.(109-111)gGa>gCa	p.G37A		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	37						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCAGTGTTCCAATAATCAC	0.363																																						uc003jkb.1		NaN																	0					0						c.(109-111)GGA>GCA		LMBR1 domain containing 2							112.0	109.0	110.0					5																	36143342		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36143342C>G		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.110G>C	5.37:g.36143342C>G	ENSP00000296603:p.Gly37Ala						p.G37A	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	525	-	all_lung(31;0.000146)		37			Helical; (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.110G>C	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	5.451	0.268330	0.10349	.	.	ENSG00000164187	ENST00000296603	T	0.27890	1.64	5.33	4.44	0.53790	LMBR1-like membrane protein (1);	0.112211	0.64402	D	0.000014	T	0.12050	0.0293	N	0.01576	-0.805	0.51767	D	0.999934	B	0.11235	0.004	B	0.18561	0.022	T	0.15780	-1.0425	10	0.15499	T	0.54	-16.8411	14.1293	0.65242	0.0:0.7514:0.2486:0.0	.	37	Q68DH5	LMBD2_HUMAN	A	37	ENSP00000296603:G37A	ENSP00000296603:G37A	G	-	2	0	LMBRD2	36179099	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.787000	0.55439	2.480000	0.83734	0.555000	0.69702	GGA		0.363	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1		NM_001007527		16	44	0	0	0	0.004007	0	16	44		
C5orf42	65250	broad.mit.edu	37	5	37195984	37195984	+	Missense_Mutation	SNP	C	C	T	rs566159499	byFrequency	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:37195984C>T	ENST00000508244.1	-	20	3880	c.3787G>A	c.(3787-3789)Gat>Aat	p.D1263N	C5orf42_ENST00000425232.2_Missense_Mutation_p.D1263N|C5orf42_ENST00000274258.7_Missense_Mutation_p.D144N			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1263						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAAACTTCATCAAGCTTGTGG	0.378																																						uc011cpa.1		NaN																	0				ovary(4)|breast(2)|skin(1)	7						c.(3787-3789)GAT>AAT		hypothetical protein LOC65250							114.0	111.0	112.0					5																	37195984		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37195984C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3787G>A	5.37:g.37195984C>T	ENSP00000421690:p.Asp1263Asn					C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D338N|C5orf42_uc011cpb.1_Missense_Mutation_p.D144N	p.D1263N	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		21	4018	-	all_lung(31;0.000616)		1263					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3787G>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	33	5.253106	0.95336	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.36699	1.43;1.43;1.24;1.27	5.31	5.31	0.75309	.	0.000000	0.45867	D	0.000327	T	0.48943	0.1528	L	0.27053	0.805	0.39683	D	0.97092	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.45366	-0.9266	10	0.38643	T	0.18	.	19.3412	0.94342	0.0:1.0:0.0:0.0	.	1263;144	E9PH94;Q9H799	.;CE042_HUMAN	N	1263;1263;144;311;144	ENSP00000421690:D1263N;ENSP00000389014:D1263N;ENSP00000274258:D144N;ENSP00000424223:D311N	ENSP00000274258:D144N	D	-	1	0	C5orf42	37231741	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.137000	0.64789	2.657000	0.90304	0.655000	0.94253	GAT		0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		10	70	0	0	0	0.006214	0	10	70		
EMB	133418	broad.mit.edu	37	5	49695706	49695706	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:49695706C>T	ENST00000303221.5	-	8	1168	c.953G>A	c.(952-954)aGg>aAg	p.R318K	EMB_ENST00000508934.1_Missense_Mutation_p.R264K|EMB_ENST00000514111.1_Missense_Mutation_p.R268K	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	318					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTTCTATGCCTGGGGACATT	0.269																																						uc003jom.2		NaN																	0					0						c.(952-954)AGG>AAG		embigin precursor							67.0	72.0	70.0					5																	49695706		2197	4280	6477	SO:0001583	missense	133418					integral to membrane		g.chr5:49695706C>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.953G>A	5.37:g.49695706C>T	ENSP00000302289:p.Arg318Lys					EMB_uc010ivq.2_Missense_Mutation_p.R112K|EMB_uc003jol.2_Missense_Mutation_p.R249K|EMB_uc011cpy.1_Missense_Mutation_p.R268K|EMB_uc010ivr.2_Missense_Mutation_p.R264K	p.R318K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN			8	1202	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	318			Cytoplasmic (Potential).		B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.953G>A	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536339	0.65085	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.54479	0.57;0.76;0.65	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.84082	2.675	0.39341	D	0.965572	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.77544	-0.2548	9	.	.	.	-17.8287	13.551	0.61732	0.0:1.0:0.0:0.0	.	264;318	D6RDX7;Q6PCB8	.;EMB_HUMAN	K	318;290;264;268	ENSP00000302289:R318K;ENSP00000425215:R264K;ENSP00000426404:R268K	.	R	-	2	0	EMB	49731463	1.000000	0.71417	0.945000	0.38365	0.564000	0.35744	2.625000	0.46452	2.344000	0.79699	0.484000	0.47621	AGG		0.269	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1		NM_198449		7	44	0	0	0	0.001984	0	7	44		
RNF180	285671	broad.mit.edu	37	5	63509826	63509826	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:63509826C>A	ENST00000389100.4	+	4	745	c.673C>A	c.(673-675)Cat>Aat	p.H225N	RNF180_ENST00000296615.6_Missense_Mutation_p.H225N|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	225					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AAGAGCTTTTCATAGAAAATC	0.388																																						uc003jti.2		NaN																	0					0						c.(673-675)CAT>AAT		ring finger protein 180 isoform 1							66.0	74.0	71.0					5																	63509826		2203	4300	6503	SO:0001583	missense	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63509826C>A	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.673C>A	5.37:g.63509826C>A	ENSP00000373752:p.His225Asn					RNF180_uc003jth.3_Missense_Mutation_p.H225N|RNF180_uc010iws.2_Intron	p.H225N	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	783	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	225			Cytoplasmic (Potential).		Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	c.673C>A	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652079	0.67472	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.63255	-0.03	6.08	6.08	0.98989	.	0.152252	0.64402	D	0.000015	T	0.80076	0.4557	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.80183	-0.1488	10	0.87932	D	0	-15.9067	19.6529	0.95825	0.0:1.0:0.0:0.0	.	225;225	Q86T96;Q86T96-2	RN180_HUMAN;.	N	225	ENSP00000373752:H225N	ENSP00000296615:H225N	H	+	1	0	RNF180	63545582	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.649000	0.67936	2.890000	0.99128	0.655000	0.94253	CAT		0.388	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1		NM_178532		31	46	1	0	1.08312e-15	0.009535	1.21013e-15	31	46		
MAN2A1	4124	broad.mit.edu	37	5	109152978	109152978	+	Missense_Mutation	SNP	C	C	T	rs142458296		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:109152978C>T	ENST00000261483.4	+	13	3000	c.1948C>T	c.(1948-1950)Ctt>Ttt	p.L650F		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	650					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTGCAGGTACCTTGTGGTCTA	0.363																																						uc003kou.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1948-1950)CTT>TTT		mannosidase, alpha, class 2A, member 1		C	PHE/LEU	1,4403	2.1+/-5.4	0,1,2201	133.0	125.0	128.0		1948	5.4	1.0	5	dbSNP_134	128	0,8600		0,0,4300	no	missense	MAN2A1	NM_002372.2	22	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	650/1145	109152978	1,13003	2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109152978C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1948C>T	5.37:g.109152978C>T	ENSP00000261483:p.Leu650Phe						p.L650F	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	13	2911	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	650			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1948C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225921	0.79576	2.27E-4	0.0	ENSG00000112893	ENST00000261483	D	0.84873	-1.91	5.42	5.42	0.78866	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.64402	D	0.000001	D	0.90270	0.6957	M	0.69185	2.1	0.58432	D	0.999992	D	0.67145	0.996	D	0.75020	0.985	D	0.89072	0.3470	10	0.40728	T	0.16	-23.1734	12.5463	0.56201	0.0:0.9226:0.0:0.0774	.	650	Q16706	MA2A1_HUMAN	F	650	ENSP00000261483:L650F	ENSP00000261483:L650F	L	+	1	0	MAN2A1	109180877	0.989000	0.36119	1.000000	0.80357	0.983000	0.72400	2.325000	0.43840	2.695000	0.91970	0.650000	0.86243	CTT		0.363	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1				11	81	0	0	0	0.016723	0	11	81		
PCDHA6	56142	broad.mit.edu	37	5	140208233	140208233	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:140208233G>A	ENST00000529310.1	+	1	671	c.557G>A	c.(556-558)aGt>aAt	p.S186N	PCDHA6_ENST00000527624.1_Missense_Mutation_p.S186N|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATAAACAGTGATGACAAT	0.443																																						uc003lho.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(556-558)AGT>AAT		protocadherin alpha 6 isoform 1 precursor							67.0	72.0	70.0					5																	140208233		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208233G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.557G>A	5.37:g.140208233G>A	ENSP00000433378:p.Ser186Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S186N|PCDHA6_uc011dab.1_Missense_Mutation_p.S186N	p.S186N	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	584	+			186			Cadherin 2.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.557G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	0.653	-0.808900	0.02819	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.52526	0.66;0.66	3.87	1.05	0.20165	Cadherin (4);Cadherin-like (1);	0.930568	0.08721	N	0.903436	T	0.27629	0.0679	N	0.17838	0.53	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.14023	0.006;0.01;0.005	T	0.23261	-1.0193	10	0.22706	T	0.39	.	3.343	0.07126	0.4727:0.2178:0.3095:0.0	.	186;186;186	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	N	186	ENSP00000433378:S186N;ENSP00000434113:S186N	ENSP00000434113:S186N	S	+	2	0	PCDHA6	140188417	0.000000	0.05858	0.989000	0.46669	0.636000	0.38137	-2.307000	0.01132	0.404000	0.25506	0.313000	0.20887	AGT		0.443	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909		34	56	0	0	0	0.012213	0	34	56		
PCDHA12	56137	broad.mit.edu	37	5	140256681	140256681	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:140256681G>T	ENST00000398631.2	+	1	1624	c.1624G>T	c.(1624-1626)Gtg>Ttg	p.V542L	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGCCGGCGTGCCGCCTCT	0.701																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NaN																	0					0						c.(1624-1626)GTG>TTG		protocadherin alpha 12 isoform 1 precursor							83.0	91.0	89.0					5																	140256681		2202	4297	6499	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256681G>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1624G>T	5.37:g.140256681G>T	ENSP00000381628:p.Val542Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V542L	p.V542L	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1751	+			542			Cadherin 5.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1624G>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	7.074	0.568833	0.13560	.	.	ENSG00000251664	ENST00000398631	T	0.50813	0.73	4.92	2.83	0.33086	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30262	0.0759	N	0.16368	0.405	0.09310	N	1	B;B	0.24317	0.011;0.101	B;B	0.28385	0.072;0.089	T	0.21999	-1.0229	9	0.27785	T	0.31	.	7.6339	0.28255	0.0:0.2113:0.5379:0.2508	.	542;542	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	L	542	ENSP00000381628:V542L	ENSP00000381628:V542L	V	+	1	0	PCDHA12	140236865	0.000000	0.05858	0.995000	0.50966	0.789000	0.44602	-1.560000	0.02160	0.984000	0.38629	0.561000	0.74099	GTG		0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2		NM_018903		43	79	1	0	2.24893e-16	0.009718	2.52086e-16	43	79		
PCDHA13	56136	broad.mit.edu	37	5	140263756	140263756	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:140263756C>T	ENST00000289272.2	+	1	1903	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R635C|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACGCGCCCTCTGGA	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1903-1905)CGC>TGC		protocadherin alpha 13 isoform 1 precursor							58.0	61.0	60.0					5																	140263756		2203	4298	6501	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263756C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1903C>T	5.37:g.140263756C>T	ENSP00000289272:p.Arg635Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R635C|PCDHA13_uc003lid.2_Missense_Mutation_p.R635C	p.R635C	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1903	+			635			Cadherin 6.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1903C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614892	0.28712	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.54675	0.56;0.56	4.15	4.15	0.48705	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81163	0.4765	H	0.96518	3.835	0.40179	D	0.977268	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88677	0.3199	9	0.87932	D	0	.	16.6313	0.85033	0.0:1.0:0.0:0.0	.	635;635;635	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	635	ENSP00000386821:R635C;ENSP00000289272:R635C	ENSP00000289272:R635C	R	+	1	0	PCDHA13	140243940	0.004000	0.15560	0.269000	0.24586	0.080000	0.17528	0.861000	0.27885	2.136000	0.66102	0.655000	0.94253	CGC		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1		NM_018904		42	50	0	0	0	0.00623	0	42	50		
PCDHB12	56124	broad.mit.edu	37	5	140589944	140589944	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:140589944T>A	ENST00000239450.2	+	1	1654	c.1465T>A	c.(1465-1467)Tcg>Acg	p.S489T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S152T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCAACTACTCGCTGCTGCC	0.657																																						uc003liz.2		NaN																	0				skin(2)|ovary(1)	3						c.(1465-1467)TCG>ACG		protocadherin beta 12 precursor							91.0	89.0	90.0					5																	140589944		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589944T>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1465T>A	5.37:g.140589944T>A	ENSP00000239450:p.Ser489Thr					PCDHB12_uc011dak.1_Missense_Mutation_p.S152T	p.S489T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1654	+			489			Extracellular (Potential).|Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1465T>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891586	0.52014	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.02974	4.09;4.09	3.68	2.37	0.29283	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11110	0.0271	M	0.76002	2.32	0.26041	N	0.981602	D	0.55605	0.972	D	0.64144	0.922	T	0.03717	-1.1010	9	0.66056	D	0.02	.	8.1004	0.30854	0.1807:0.0:0.0:0.8193	.	489	Q9Y5F1	PCDBC_HUMAN	T	152;489;109	ENSP00000440199:S152T;ENSP00000239450:S489T	ENSP00000239450:S489T	S	+	1	0	PCDHB12	140570128	0.001000	0.12720	1.000000	0.80357	0.621000	0.37620	0.585000	0.23879	1.451000	0.47736	0.397000	0.26171	TCG		0.657	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2		NM_018932		16	102	0	0	0	0.00499	0	16	102		
KIF4B	285643	broad.mit.edu	37	5	154396083	154396083	+	Silent	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:154396083G>T	ENST00000435029.4	+	1	2824	c.2664G>T	c.(2662-2664)ctG>ctT	p.L888L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	888	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAACAGCCTGAGACAGAGCA	0.438																																						uc010jih.1		NaN																	0				ovary(1)	1						c.(2662-2664)CTG>CTT		kinesin family member 4B							76.0	77.0	76.0					5																	154396083		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396083G>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2664G>T	5.37:g.154396083G>T							p.L888L	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2824	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	888			Interaction with PRC1 (By similarity).|Potential.			Silent	SNP	ENST00000435029.4	37	c.2664G>T	CCDS47324.1																																																																																				0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1				20	34	1	0	4.35082e-09	0.010504	4.69286e-09	20	34		
TENM2	57451	broad.mit.edu	37	5	167674760	167674760	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:167674760G>C	ENST00000518659.1	+	27	6855	c.6816G>C	c.(6814-6816)caG>caC	p.Q2272H	TENM2_ENST00000519204.1_Missense_Mutation_p.Q2151H|TENM2_ENST00000545108.1_Missense_Mutation_p.Q2271H|TENM2_ENST00000520394.1_Missense_Mutation_p.Q2033H|TENM2_ENST00000403607.2_Missense_Mutation_p.Q2096H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2272					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ATCTGTGCCAGAGAGGGTCTG	0.542																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(6787-6789)CAG>CAC		odz, odd Oz/ten-m homolog 2							66.0	67.0	67.0					5																	167674760		2058	4202	6260	SO:0001583	missense	57451							g.chr5:167674760G>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6816G>C	5.37:g.167674760G>C	ENSP00000429430:p.Gln2272His					ODZ2_uc003lzr.3_Missense_Mutation_p.Q2033H|ODZ2_uc003lzt.3_Missense_Mutation_p.Q1636H|ODZ2_uc010jje.2_Missense_Mutation_p.Q1527H	p.Q2263H	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6789	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6789G>C		.	.	.	.	.	.	.	.	.	.	G	11.41	1.631377	0.28978	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90732	-2.24;-2.23;-2.35;-2.69;-2.72	5.59	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.94964	0.8371	M	0.88842	2.985	0.46376	D	0.999013	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.998;0.989	D	0.94312	0.7546	10	0.54805	T	0.06	.	7.9736	0.30143	0.254:0.0:0.746:0.0	.	2271;2272;2033	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	2272;2271;2151;2033;2096	ENSP00000429430:Q2272H;ENSP00000438635:Q2271H;ENSP00000428964:Q2151H;ENSP00000427874:Q2033H;ENSP00000384905:Q2096H	ENSP00000384905:Q2096H	Q	+	3	2	ODZ2	167607338	1.000000	0.71417	0.998000	0.56505	0.266000	0.26442	1.198000	0.32223	2.636000	0.89361	0.561000	0.74099	CAG		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		12	58	0	0	0	0.010729	0	12	58		
GRK6	2870	broad.mit.edu	37	5	176863486	176863486	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:176863486C>T	ENST00000355472.5	+	13	1527	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	GRK6_ENST00000355958.5_Silent_p.F453F|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Silent_p.F419F|GRK6_ENST00000507633.1_Silent_p.F453F|GRK6_ENST00000528793.1_Silent_p.F453F	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	453	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGAACTTCAAGCGGCTGG	0.672																																						uc011dfz.1		NaN																	0				large_intestine(1)|stomach(1)|breast(1)	3						c.(1357-1359)TTC>TTT		G protein-coupled receptor kinase 6 isoform B							35.0	38.0	37.0					5																	176863486		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176863486C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1359C>T	5.37:g.176863486C>T						GRK6_uc003mgp.2_Silent_p.F453F|GRK6_uc003mgq.2_Silent_p.F453F|GRK6_uc003mgs.1_Silent_p.F423F	p.F453F	NM_002082	NP_002073	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1519	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	453			AGC-kinase C-terminal.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.1359C>T	CCDS34303.1																																																																																				0.672	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1		NM_002082		20	32	0	0	0	0.008871	0	20	32		
RIPK1	8737	broad.mit.edu	37	6	3077181	3077181	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:3077181A>G	ENST00000259808.4	+	2	422	c.124A>G	c.(124-126)Atg>Gtg	p.M42V	RIPK1_ENST00000541791.1_Missense_Mutation_p.M42V|RIPK1_ENST00000380409.2_Missense_Mutation_p.M42V|RIPK1_ENST00000479389.1_Intron			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|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)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCAGGGACTCATGATCATGAA	0.527																																						uc010jni.2		NaN																	0				large_intestine(3)|lung(1)|skin(1)	5						c.(124-126)ATG>GTG		receptor (TNFRSF)-interacting serine-threonine							76.0	70.0	72.0					6																	3077181		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3077181A>G	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.124A>G	6.37:g.3077181A>G	ENSP00000259808:p.Met42Val					RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Intron|RIPK1_uc011dhs.1_Missense_Mutation_p.M42V|RIPK1_uc003mux.2_Missense_Mutation_p.M42V	p.M42V	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			2	356	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	42			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.124A>G	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.332607	0.01298	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.72051	0.38;-0.62;0.38	5.56	4.69	0.59074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052746	0.85682	N	0.000000	T	0.16171	0.0389	N	0.00972	-1.085	0.25649	N	0.986112	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18777	-1.0326	10	0.02654	T	1	-23.6929	14.3384	0.66608	0.0724:0.0:0.9276:0.0	.	42;42	Q13546-2;Q13546	.;RIPK1_HUMAN	V	42	ENSP00000259808:M42V;ENSP00000442294:M42V;ENSP00000369773:M42V	ENSP00000259808:M42V	M	+	1	0	RIPK1	3022180	1.000000	0.71417	0.582000	0.28627	0.055000	0.15305	6.267000	0.72546	1.496000	0.48567	-0.132000	0.14878	ATG		0.527	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2		NM_003804		17	33	0	0	0	0.006122	0	17	33		
GCNT2	2651	broad.mit.edu	37	6	10626656	10626656	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:10626656A>G	ENST00000379597.3	+	3	1581	c.1025A>G	c.(1024-1026)tAt>tGt	p.Y342C	GCNT2_ENST00000410107.1_Missense_Mutation_p.Y56C|GCNT2_ENST00000316170.3_Missense_Mutation_p.Y340C|GCNT2_ENST00000265012.4_Missense_Mutation_p.Y342C|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000495262.1_Missense_Mutation_p.Y342C			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	342					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCAGGCCACTATGTACATGGT	0.398																																						uc010joo.2		NaN																	0				ovary(2)	2						c.(1024-1026)TAT>TGT		glucosaminyl (N-acetyl) transferase 2,							108.0	103.0	105.0					6																	10626656		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10626656A>G	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.1025A>G	6.37:g.10626656A>G	ENSP00000368917:p.Tyr342Cys					GCNT2_uc010jol.2_Missense_Mutation_p.Y56C|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Missense_Mutation_p.Y341C|GCNT2_uc003mzd.2_Missense_Mutation_p.Y340C|GCNT2_uc003mze.2_Missense_Mutation_p.Y342C	p.Y342C	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	5	1576	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	342			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000379597.3	37	c.1025A>G	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474541	0.63737	.	.	ENSG00000111846	ENST00000410107;ENST00000495262;ENST00000379597;ENST00000316170;ENST00000265012	T;T;T;T;T	0.50277	0.75;2.58;2.58;2.58;2.58	5.3	4.13	0.48395	.	0.000000	0.64402	D	0.000015	T	0.66742	0.2820	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.996;0.997	T	0.74760	-0.3556	10	0.72032	D	0.01	-20.6174	11.1016	0.48177	0.9261:0.0:0.0739:0.0	.	342;56;342;340	Q8N0V5;B7ZBL3;Q8NFS9;Q06430	GNT2A_HUMAN;.;GNT2C_HUMAN;GNT2B_HUMAN	C	56;342;342;340;342	ENSP00000386321:Y56C;ENSP00000419411:Y342C;ENSP00000368917:Y342C;ENSP00000314844:Y340C;ENSP00000265012:Y342C	ENSP00000265012:Y342C	Y	+	2	0	GCNT2	10734642	1.000000	0.71417	0.735000	0.30896	0.760000	0.43138	7.554000	0.82212	0.941000	0.37499	0.528000	0.53228	TAT		0.398	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3		NM_145649		17	167	0	0	0	0.00499	0	17	167		
TMEM14C	51522	broad.mit.edu	37	6	10726149	10726149	+	Missense_Mutation	SNP	C	C	T	rs146638335		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:10726149C>T	ENST00000541412.1	+	4	492	c.107C>T	c.(106-108)cCg>cTg	p.P36L	TMEM14C_ENST00000229563.5_Missense_Mutation_p.P36L|TMEM14C_ENST00000467415.1_3'UTR	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	36					heme biosynthetic process (GO:0006783)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			GGCAGCGTGCCGTCCCTGGCT	0.547																																						uc003mzh.2		NaN																	0					0						c.(106-108)CCG>CTG		transmembrane protein 14C		C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	126.0	108.0	114.0		107,107	3.9	0.9	6	dbSNP_134	114	0,8600		0,0,4300	no	missense,missense	TMEM14C	NM_001165258.1,NM_016462.3	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	36/113,36/113	10726149	1,13005	2203	4300	6503	SO:0001583	missense	51522				heme biosynthetic process	integral to membrane|mitochondrial membrane		g.chr6:10726149C>T	AF151028	CCDS4514.1	6p24.1	2008-02-26	2004-04-16	2004-04-21	ENSG00000111843	ENSG00000111843			20952	protein-coding gene	gene with protein product		615318	"""chromosome 6 open reading frame 53"""	C6orf53		11042152, 12958361	Standard	NM_016462		Approved	HSPC194, bA421M1.6, NET26	uc021ylj.1	Q9P0S9	OTTHUMG00000014242	ENST00000541412.1:c.107C>T	6.37:g.10726149C>T	ENSP00000444561:p.Pro36Leu					TMEM14C_uc010joq.1_Missense_Mutation_p.P36L|TMEM14C_uc003mzi.2_Missense_Mutation_p.P36L	p.P36L	NM_016462	NP_057546	Q9P0S9	TM14C_HUMAN	Epithelial(50;0.246)		4	288	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	36			Helical; (Potential).		Q5T4I6	Missense_Mutation	SNP	ENST00000541412.1	37	c.107C>T	CCDS4514.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485849	0.26686	2.27E-4	0.0	ENSG00000111843	ENST00000541412;ENST00000342277;ENST00000229563	T;T	0.47177	0.85;0.85	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	M	0.83483	2.645	0.80722	D	1	B;B	0.29037	0.231;0.231	B;B	0.29524	0.103;0.103	T	0.44757	-0.9307	10	0.33940	T	0.23	.	14.6971	0.69129	0.0:1.0:0.0:0.0	.	36;36	Q53F27;Q9P0S9	.;TM14C_HUMAN	L	36	ENSP00000444561:P36L;ENSP00000229563:P36L	ENSP00000229563:P36L	P	+	2	0	TMEM14C	10834135	1.000000	0.71417	0.890000	0.34922	0.143000	0.21401	6.609000	0.74173	1.708000	0.51301	0.462000	0.41574	CCG		0.547	TMEM14C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039829.1		NM_016462		11	178	0	0	0	0.013537	0	11	178		
DEK	7913	broad.mit.edu	37	6	18256002	18256002	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:18256002C>G	ENST00000397239.3	-	6	980	c.533G>C	c.(532-534)aGg>aCg	p.R178T	DEK_ENST00000244776.7_Missense_Mutation_p.R144T	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	178	SAP.				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			ATTCAAGATCCTCTTCACTAG	0.333			T	NUP214	AML																																	uc003ncr.1		NaN		Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				kidney(1)	1						c.(532-534)AGG>ACG		DEK oncogene isoform 1							105.0	104.0	105.0					6																	18256002		2203	4300	6503	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18256002C>G	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.533G>C	6.37:g.18256002C>G	ENSP00000380414:p.Arg178Thr					DEK_uc011djf.1_Missense_Mutation_p.R144T|DEK_uc011djg.1_RNA	p.R178T	NM_003472	NP_003463	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		6	726	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	178			SAP.		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.533G>C	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281286	0.80692	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715	T;T;T	0.54866	0.55;0.55;0.62	5.87	5.87	0.94306	DNA-binding SAP (2);	0.044109	0.85682	D	0.000000	T	0.49389	0.1554	L	0.27053	0.805	0.43207	D	0.995069	D;D	0.59357	0.985;0.962	D;P	0.63597	0.916;0.881	T	0.54470	-0.8289	10	0.66056	D	0.02	-1.8202	13.4105	0.60940	0.0:0.9283:0.0:0.0717	.	144;178	B4DN37;P35659	.;DEK_HUMAN	T	178;144;111	ENSP00000380414:R178T;ENSP00000244776:R144T;ENSP00000425399:R111T	ENSP00000244776:R144T	R	-	2	0	DEK	18363981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.580000	0.53907	2.767000	0.95098	0.591000	0.81541	AGG		0.333	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4				14	231	0	0	0	0.020292	0	14	231		
PGBD1	84547	broad.mit.edu	37	6	28269137	28269137	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:28269137C>G	ENST00000405948.2	+	7	1926	c.1506C>G	c.(1504-1506)ttC>ttG	p.F502L	PGBD1_ENST00000259883.3_Missense_Mutation_p.F502L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	502						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AATTGATTTTCTCAAACCTGC	0.373																																						uc003nky.2		NaN																	0				ovary(4)	4						c.(1504-1506)TTC>TTG		piggyBac transposable element derived 1							108.0	110.0	109.0					6																	28269137		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269137C>G	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1506C>G	6.37:g.28269137C>G	ENSP00000385213:p.Phe502Leu					PGBD1_uc003nkz.2_Missense_Mutation_p.F502L	p.F502L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	1876	+			502					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1506C>G	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538147	0.27475	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.14516	2.5;2.5	4.66	2.86	0.33363	.	0.156613	0.30519	N	0.009454	T	0.03827	0.0108	L	0.39898	1.24	0.31242	N	0.695069	B	0.20550	0.046	B	0.34824	0.19	T	0.39742	-0.9599	10	0.10111	T	0.7	-22.1758	6.4659	0.21981	0.0:0.786:0.0:0.214	.	502	Q96JS3	PGBD1_HUMAN	L	502	ENSP00000385213:F502L;ENSP00000259883:F502L	ENSP00000259883:F502L	F	+	3	2	PGBD1	28377116	0.982000	0.34865	1.000000	0.80357	0.991000	0.79684	-0.047000	0.11963	1.309000	0.44985	0.655000	0.94253	TTC		0.373	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2				47	117	0	0	0	0.01441	0	47	117		
PGBD1	84547	broad.mit.edu	37	6	28269477	28269477	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:28269477G>A	ENST00000405948.2	+	7	2266	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E616K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	616						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGTTCTTTTAGAGAGAGGTCA	0.418																																						uc003nky.2		NaN																	0				ovary(4)	4						c.(1846-1848)GAG>AAG		piggyBac transposable element derived 1							163.0	161.0	161.0					6																	28269477		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269477G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1846G>A	6.37:g.28269477G>A	ENSP00000385213:p.Glu616Lys					PGBD1_uc003nkz.2_Missense_Mutation_p.E616K	p.E616K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	2216	+			616					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1846G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138095	0.37728	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.18016	2.24;2.24	4.66	3.78	0.43462	.	0.896444	0.09269	N	0.825390	T	0.09423	0.0232	M	0.65498	2.005	0.26020	N	0.981885	B	0.24618	0.107	B	0.31614	0.133	T	0.37197	-0.9716	10	0.22109	T	0.4	-4.5321	10.9633	0.47397	0.0:0.1888:0.8112:0.0	.	616	Q96JS3	PGBD1_HUMAN	K	616	ENSP00000385213:E616K;ENSP00000259883:E616K	ENSP00000259883:E616K	E	+	1	0	PGBD1	28377456	0.665000	0.27466	0.996000	0.52242	0.997000	0.91878	1.120000	0.31271	1.304000	0.44892	0.655000	0.94253	GAG		0.418	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2				50	115	0	0	0	0.01441	0	50	115		
VPS52	6293	broad.mit.edu	37	6	33235699	33235699	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:33235699C>G	ENST00000445902.2	-	9	1094	c.876G>C	c.(874-876)ctG>ctC	p.L292L	VPS52_ENST00000436044.2_Silent_p.L167L|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	292					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AAATCTTGCTCAGCGTCTCCA	0.522																																						uc003odm.1		NaN																	0				ovary(4)|skin(1)	5						c.(874-876)CTG>CTC		vacuolar protein sorting 52							170.0	165.0	167.0					6																	33235699		1511	2709	4220	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235699C>G	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.876G>C	6.37:g.33235699C>G						VPS52_uc003odn.1_Silent_p.L167L|VPS52_uc003odo.1_Silent_p.L217L|VPS52_uc011dqy.1_Silent_p.L167L|VPS52_uc011dqz.1_Silent_p.L167L	p.L292L	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			9	1086	-			292					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.876G>C	CCDS4770.2																																																																																				0.522	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2		NM_022553		29	44	0	0	0	0.008361	0	29	44		
DST	667	broad.mit.edu	37	6	56464869	56464869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:56464869C>A	ENST00000361203.3	-	41	11066	c.11059G>T	c.(11059-11061)Gag>Tag	p.E3687*	DST_ENST00000312431.6_Nonsense_Mutation_p.E3687*|DST_ENST00000421834.2_Nonsense_Mutation_p.E1601*|DST_ENST00000370769.4_Nonsense_Mutation_p.E3689*|DST_ENST00000446842.2_Nonsense_Mutation_p.E3363*|DST_ENST00000244364.6_Nonsense_Mutation_p.E1275*|DST_ENST00000370788.2_Nonsense_Mutation_p.E1601*|DST_ENST00000370754.5_Nonsense_Mutation_p.E3867*			Q03001	DYST_HUMAN	dystonin	3687					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATTCTACCTCTTGCTTGGAC	0.358																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(5335-5337)GAG>TAG		dystonin isoform 2							139.0	130.0	133.0					6																	56464869		1860	4101	5961	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56464869C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11059G>T	6.37:g.56464869C>A	ENSP00000354508:p.Glu3687*					DST_uc003pcz.3_Nonsense_Mutation_p.E1601*|DST_uc011dxj.1_Nonsense_Mutation_p.E1630*|DST_uc011dxk.1_Nonsense_Mutation_p.E1641*|DST_uc003pcy.3_Nonsense_Mutation_p.E1275*|DST_uc010kaa.1_5'Flank	p.E1779*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	5363	-	Lung NSC(77;0.103)		3687					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.5335G>T		.	.	.	.	.	.	.	.	.	.	C	52	19.376796	0.99918	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	6.05	5.18	0.71444	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	10.1423	0.42742	0.0:0.684:0.2476:0.0683	.	.	.	.	X	1275;3867;3689;1601;3363;3687;1601;3687	.	ENSP00000244364:E1275X	E	-	1	0	DST	56572828	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.306000	0.51881	1.577000	0.49804	0.650000	0.86243	GAG		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		9	65	1	0	2.17888e-05	0.006214	2.25107e-05	9	65		
TMEM200A	114801	broad.mit.edu	37	6	130762710	130762710	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:130762710G>T	ENST00000296978.3	+	3	2014	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H	TMEM200A_ENST00000392429.1_Missense_Mutation_p.Q381H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q381H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	381						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAGAAGACAGTTTGGGTCCA	0.522																																						uc003qca.2		NaN																	0				ovary(1)	1						c.(1141-1143)CAG>CAT		transmembrane protein 200A							80.0	78.0	79.0					6																	130762710		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762710G>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1143G>T	6.37:g.130762710G>T	ENSP00000296978:p.Gln381His					TMEM200A_uc010kfh.2_Missense_Mutation_p.Q381H|TMEM200A_uc010kfi.2_Missense_Mutation_p.Q381H|TMEM200A_uc003qcb.2_Missense_Mutation_p.Q381H	p.Q381H	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	2014	+			381			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1143G>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548689	0.45383	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	6.07	3.22	0.36961	.	0.237401	0.43260	D	0.000592	T	0.13927	0.0337	N	0.08118	0	0.37385	D	0.912198	P	0.45283	0.855	P	0.44732	0.459	T	0.02805	-1.1108	9	0.15066	T	0.55	-18.2545	10.8146	0.46569	0.215:0.0:0.785:0.0	.	381	Q86VY9	T200A_HUMAN	H	381	.	ENSP00000296978:Q381H	Q	+	3	2	TMEM200A	130804403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.383000	0.34385	0.826000	0.34661	0.655000	0.94253	CAG		0.522	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1		NM_052913		19	35	1	0	2.35188e-11	0.006122	2.58556e-11	19	35		
KIAA1244	57221	broad.mit.edu	37	6	138645190	138645190	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:138645190G>C	ENST00000251691.4	+	31	5066	c.4900G>C	c.(4900-4902)Gag>Cag	p.E1634Q		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGGCACGGAGAGCTTCAG	0.652																																						uc003qhu.2		NaN																	0				ovary(1)|skin(1)	2						c.(4900-4902)GAG>CAG		brefeldin A-inhibited guanine							50.0	56.0	54.0					6																	138645190		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138645190G>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4900G>C	6.37:g.138645190G>C	ENSP00000251691:p.Glu1634Gln						p.E1634Q	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	31	4900	+	Breast(32;0.135)		1634						Missense_Mutation	SNP	ENST00000251691.4	37	c.4900G>C	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254258	0.59212	.	.	ENSG00000112379	ENST00000251691	T	0.19806	2.12	5.58	5.58	0.84498	.	0.051999	0.85682	D	0.000000	T	0.19208	0.0461	L	0.40543	1.245	0.54753	D	0.999981	P	0.50443	0.935	P	0.48368	0.575	T	0.00482	-1.1713	10	0.49607	T	0.09	-22.3855	19.9455	0.97180	0.0:0.0:1.0:0.0	.	1634	Q5TH69	BIG3_HUMAN	Q	1634	ENSP00000251691:E1634Q	ENSP00000251691:E1634Q	E	+	1	0	KIAA1244	138686883	1.000000	0.71417	0.966000	0.40874	0.576000	0.36127	9.388000	0.97237	2.788000	0.95919	0.650000	0.86243	GAG		0.652	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340		14	37	0	0	0	0.020292	0	14	37		
GRM1	2911	broad.mit.edu	37	6	146673612	146673612	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:146673612G>C	ENST00000282753.1	+	4	1648	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	GRM1_ENST00000492807.2_Missense_Mutation_p.E471D|GRM1_ENST00000355289.4_Missense_Mutation_p.E471D|GRM1_ENST00000392299.2_Missense_Mutation_p.E471D|GRM1_ENST00000361719.2_Missense_Mutation_p.E471D|GRM1_ENST00000507907.1_Missense_Mutation_p.E471D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	471					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGTTTGATGAGAAAGGAGACG	0.493																																						uc010khw.1		NaN																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1411-1413)GAG>GAC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						198.0	200.0	200.0					6																	146673612		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146673612G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1413G>C	6.37:g.146673612G>C	ENSP00000282753:p.Glu471Asp					GRM1_uc010khv.1_Missense_Mutation_p.E471D|GRM1_uc003qll.2_Missense_Mutation_p.E471D|GRM1_uc011edz.1_Missense_Mutation_p.E471D|GRM1_uc011eea.1_Missense_Mutation_p.E471D	p.E471D	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	5	1883	+		Ovarian(120;0.0387)	471			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1413G>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018999	0.54576	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.57	3.47	0.39725	Extracellular ligand-binding receptor (1);	0.151529	0.56097	N	0.000024	T	0.68888	0.3050	L	0.53617	1.68	0.48185	D	0.999602	P;P;P	0.44521	0.696;0.837;0.696	B;B;B	0.43331	0.211;0.416;0.209	T	0.72737	-0.4203	10	0.62326	D	0.03	.	4.7702	0.13151	0.1707:0.2381:0.5912:0.0	.	471;471;471	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	D	471	ENSP00000354896:E471D;ENSP00000376119:E471D;ENSP00000424095:E471D;ENSP00000282753:E471D;ENSP00000347437:E471D;ENSP00000425599:E471D	ENSP00000282753:E471D	E	+	3	2	GRM1	146715305	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.237000	0.43061	1.309000	0.44985	0.655000	0.94253	GAG		0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		54	110	0	0	0	0.01441	0	54	110		
TIAM2	26230	broad.mit.edu	37	6	155485726	155485726	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:155485726C>T	ENST00000461783.3	+	10	3479	c.2206C>T	c.(2206-2208)Cat>Tat	p.H736Y	TIAM2_ENST00000528391.2_Missense_Mutation_p.H48Y|TIAM2_ENST00000529824.2_Missense_Mutation_p.H736Y|TIAM2_ENST00000456877.2_Missense_Mutation_p.H48Y|TIAM2_ENST00000318981.5_Missense_Mutation_p.H736Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H736Y|TIAM2_ENST00000456144.1_Missense_Mutation_p.H736Y|TIAM2_ENST00000367174.2_Missense_Mutation_p.H88Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	736					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTCCTCTTTCCATGCTCTGGT	0.597																																						uc003qqb.2		NaN																	0				ovary(3)|breast(1)	4						c.(2206-2208)CAT>TAT		T-cell lymphoma invasion and metastasis 2							88.0	100.0	96.0					6																	155485726		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155485726C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2206C>T	6.37:g.155485726C>T	ENSP00000437188:p.His736Tyr					TIAM2_uc003qqe.2_Missense_Mutation_p.H736Y|TIAM2_uc010kjj.2_Missense_Mutation_p.H269Y|TIAM2_uc003qqf.2_Missense_Mutation_p.H88Y|TIAM2_uc011efl.1_Missense_Mutation_p.H48Y|TIAM2_uc003qqg.2_Missense_Mutation_p.H48Y	p.H736Y	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	10	3479	+		Ovarian(120;0.196)	736					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2206C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954753	0.92726	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.13307	2.79;2.75;2.81;2.79;2.71;2.87;2.81;2.6;2.64	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.73217	2.22	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.999	T	0.04454	-1.0950	10	0.56958	D	0.05	.	18.6918	0.91586	0.0:1.0:0.0:0.0	.	48;736;736;736	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	Y	736;982;736;736;736;88;736;736;48;48	ENSP00000437188:H736Y;ENSP00000434901:H736Y;ENSP00000407746:H736Y;ENSP00000327315:H736Y;ENSP00000356142:H88Y;ENSP00000353528:H736Y;ENSP00000433348:H736Y;ENSP00000407183:H48Y;ENSP00000435335:H48Y	ENSP00000327315:H736Y	H	+	1	0	TIAM2	155527418	1.000000	0.71417	0.977000	0.42913	0.948000	0.59901	7.757000	0.85209	2.393000	0.81446	0.650000	0.86243	CAT		0.597	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2		NM_012454		23	117	0	0	0	0.016522	0	23	117		
NME8	51314	broad.mit.edu	37	7	37934072	37934072	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:37934072G>C	ENST00000199447.4	+	16	1776	c.1404G>C	c.(1402-1404)caG>caC	p.Q468H	NME8_ENST00000440017.1_Missense_Mutation_p.Q468H|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	468	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TCTTAGAGCAGATCCTGAAGA	0.328																																						uc003tfn.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1402-1404)CAG>CAC		thioredoxin domain containing 3							68.0	71.0	70.0					7																	37934072		2203	4297	6500	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37934072G>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1404G>C	7.37:g.37934072G>C	ENSP00000199447:p.Gln468His						p.Q468H	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			16	1776	+			468			NDK 3.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1404G>C	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	3.508	-0.100346	0.06967	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.42513	0.97;0.97	4.05	0.964	0.19655	.	1.897370	0.02660	N	0.107408	T	0.37679	0.1012	L	0.39397	1.21	0.20307	N	0.999912	B	0.23854	0.092	B	0.26416	0.069	T	0.33111	-0.9881	10	0.59425	D	0.04	-2.746	6.6086	0.22739	0.0:0.1563:0.4206:0.4232	.	468	Q8N427	TXND3_HUMAN	H	468	ENSP00000199447:Q468H;ENSP00000397063:Q468H	ENSP00000199447:Q468H	Q	+	3	2	TXNDC3	37900597	0.986000	0.35501	0.463000	0.27130	0.014000	0.08584	0.071000	0.14594	0.186000	0.20125	0.467000	0.42956	CAG		0.328	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1		NM_016616		13	40	0	0	0	0.016723	0	13	40		
SEMA3D	223117	broad.mit.edu	37	7	84628906	84628906	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:84628906G>A	ENST00000284136.6	-	17	2227	c.2184C>T	c.(2182-2184)gaC>gaT	p.D728D	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	728					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CGCAGTACTGGTCGAGGCTGA	0.502																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(2182-2184)GAC>GAT		semaphorin 3D precursor							171.0	144.0	153.0					7																	84628906		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628906G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2184C>T	7.37:g.84628906G>A						SEMA3D_uc010led.2_Silent_p.D728D|SEMA3D_uc003uib.2_Silent_p.D367D	p.D728D	NM_152754	NP_689967	O95025	SEM3D_HUMAN			17	2224	-			728					A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.2184C>T	CCDS34676.1																																																																																				0.502	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		17	64	0	0	0	0.004007	0	17	64		
PON3	5446	broad.mit.edu	37	7	94989396	94989396	+	Silent	SNP	G	G	A	rs369650254		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:94989396G>A	ENST00000265627.5	-	9	964	c.954C>T	c.(952-954)acC>acT	p.T318T	PON3_ENST00000427422.1_3'UTR|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_3'UTR	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	318					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TGGCATACACGGTGCTCACCC	0.443																																						uc003unt.2		NaN																	0				ovary(1)	1						c.(952-954)ACC>ACT		paraoxonase 3		G		0,4406		0,0,2203	114.0	109.0	111.0		954	-7.7	0.0	7		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PON3	NM_000940.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		318/355	94989396	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5446				aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	g.chr7:94989396G>A	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.954C>T	7.37:g.94989396G>A						PON1_uc011kih.1_Intron	p.T318T	NM_000940	NP_000931	Q15166	PON3_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		9	979	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		318					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	c.954C>T	CCDS5639.1																																																																																				0.443	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1		NM_000940		30	46	0	0	0	0.008361	0	30	46		
TECPR1	25851	broad.mit.edu	37	7	97862208	97862208	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:97862208G>A	ENST00000447648.2	-	12	2048	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	TECPR1_ENST00000379795.3_Silent_p.F584F|TECPR1_ENST00000542604.1_Silent_p.F513F			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	583					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAGCTGCTGGAAGATCTGCT	0.632																																						uc003upg.2		NaN																	0				pancreas(1)	1						c.(1747-1749)TTC>TTT		tectonin beta-propeller repeat containing 1							43.0	49.0	47.0					7																	97862208		2129	4234	6363	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97862208G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1749C>T	7.37:g.97862208G>A						TECPR1_uc003uph.1_Silent_p.F513F	p.F583F	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			12	1954	-			583					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.1749C>T	CCDS47648.1																																																																																				0.632	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1		NM_015395		5	21	0	0	0	0.014758	0	5	21		
LAMB1	3912	broad.mit.edu	37	7	107601691	107601691	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:107601691G>A	ENST00000222399.6	-	17	2299	c.2069C>T	c.(2068-2070)tCt>tTt	p.S690F	LAMB1_ENST00000393561.1_Missense_Mutation_p.S714F|LAMB1_ENST00000393560.1_Missense_Mutation_p.S690F	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	690	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GTCGCTATCAGAGGAGGTGTA	0.547																																						uc003vew.2		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(2068-2070)TCT>TTT		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						126.0	115.0	119.0					7																	107601691		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107601691G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2069C>T	7.37:g.107601691G>A	ENSP00000222399:p.Ser690Phe					LAMB1_uc003vev.2_Missense_Mutation_p.S714F|LAMB1_uc003vex.2_Missense_Mutation_p.S690F	p.S690F	NM_002291	NP_002282	P07942	LAMB1_HUMAN			17	2404	-			690			Laminin IV type B.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2069C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	1.380	-0.583693	0.03827	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39229	1.38;1.38;1.09	5.48	0.356	0.16074	Laminin IV (1);	.	.	.	.	T	0.25082	0.0609	L	0.43923	1.385	0.09310	N	1	P;B;B	0.43826	0.818;0.006;0.003	B;B;B	0.36666	0.23;0.005;0.005	T	0.12578	-1.0542	9	0.19147	T	0.46	.	2.836	0.05515	0.3863:0.0:0.2837:0.33	.	690;690;714	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	F	714;690;690	ENSP00000377191:S714F;ENSP00000222399:S690F;ENSP00000377190:S690F	ENSP00000222399:S690F	S	-	2	0	LAMB1	107388927	0.004000	0.15560	0.016000	0.15963	0.326000	0.28443	1.667000	0.37471	-0.007000	0.14345	0.563000	0.77884	TCT		0.547	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291		11	51	0	0	0	0.013537	0	11	51		
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000393447.4_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000393443.1_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908		11	34	0	0	0	0.01441	0	11	34		
ZC3HC1	51530	broad.mit.edu	37	7	129688905	129688905	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:129688905C>G	ENST00000358303.4	-	2	310	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	ZC3HC1_ENST00000360708.5_Missense_Mutation_p.E76Q|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.E55Q|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.E76Q	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	76					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AAGAAGGCTTCTTTGCTTGTA	0.408																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.2		NaN																	0					0						c.(226-228)GAA>CAA		zinc finger, C3HC type 1							196.0	180.0	185.0					7																	129688905		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129688905C>G	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.226G>C	7.37:g.129688905C>G	ENSP00000351052:p.Glu76Gln						p.E76Q	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			2	253	-	Melanoma(18;0.0435)		76					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.226G>C	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473525	0.84640	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.53857	1.18;0.6;1.21;0.65	5.72	4.84	0.62591	Zinc finger, C3HC-like (1);	0.053640	0.64402	D	0.000001	T	0.64929	0.2643	L	0.49126	1.545	0.49798	D	0.999825	D	0.89917	1.0	D	0.74023	0.982	T	0.62812	-0.6775	10	0.33940	T	0.23	-15.5025	13.6242	0.62155	0.0:0.9247:0.0:0.0753	.	76	Q86WB0	NIPA_HUMAN	Q	76;76;55;76;76	ENSP00000351052:E76Q;ENSP00000353933:E76Q;ENSP00000309301:E55Q;ENSP00000418533:E76Q	ENSP00000309301:E55Q	E	-	1	0	ZC3HC1	129476141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.225000	0.72271	1.437000	0.47472	0.586000	0.80456	GAA		0.408	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1		NM_016478		32	61	0	0	0	0.013726	0	32	61		
DENND2A	27147	broad.mit.edu	37	7	140255469	140255469	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:140255469C>G	ENST00000275884.6	-	11	2421	c.2004G>C	c.(2002-2004)gtG>gtC	p.V668V	DENND2A_ENST00000492720.1_Silent_p.V668V|DENND2A_ENST00000537639.1_Silent_p.V668V|DENND2A_ENST00000496613.1_Silent_p.V668V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	668	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCAGGCGGCTCACAATGCAGT	0.522																																						uc010lnj.2		NaN																	0				ovary(3)|breast(1)	4						c.(2002-2004)GTG>GTC		DENN/MADD domain containing 2A							121.0	118.0	119.0					7																	140255469		1889	4125	6014	SO:0001819	synonymous_variant	27147							g.chr7:140255469C>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2004G>C	7.37:g.140255469C>G						DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.V668V|DENND2A_uc003vvw.2_Silent_p.V668V|DENND2A_uc003vvx.2_Silent_p.V668V	p.V668V	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			10	2149	-	Melanoma(164;0.00956)		668			DENN.		C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.2004G>C	CCDS43659.1																																																																																				0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1		NM_015689		20	72	0	0	0	0.012319	0	20	72		
C7orf33	202865	broad.mit.edu	37	7	148312489	148312489	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:148312489G>A	ENST00000307003.2	+	3	891	c.530G>A	c.(529-531)aGt>aAt	p.S177N		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	177										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACTGACAGCAGTTAAGAATTT	0.378																																						uc003wew.2		NaN																	0				central_nervous_system(1)	1						c.(529-531)AGT>AAT		hypothetical protein LOC202865							114.0	115.0	115.0					7																	148312489		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148312489G>A	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.530G>A	7.37:g.148312489G>A	ENSP00000304071:p.Ser177Asn						p.S177N	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		3	891	+	Melanoma(164;0.15)		177						Missense_Mutation	SNP	ENST00000307003.2	37	c.530G>A	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	G	5.615	0.298225	0.10622	.	.	ENSG00000170279	ENST00000307003	.	.	.	1.79	-0.131	0.13494	.	.	.	.	.	T	0.13713	0.0332	N	0.19112	0.55	0.09310	N	1	P	0.50710	0.938	B	0.34931	0.192	T	0.16689	-1.0394	8	0.87932	D	0	.	4.1357	0.10169	0.4026:0.0:0.5974:0.0	.	177	Q8WU49	CG033_HUMAN	N	177	.	ENSP00000304071:S177N	S	+	2	0	C7orf33	147943422	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.236000	0.09003	-0.062000	0.13088	-0.140000	0.14226	AGT		0.378	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1		NM_145304		20	72	0	0	0	0.008871	0	20	72		
KRBA1	84626	broad.mit.edu	37	7	149421876	149421876	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:149421876C>G	ENST00000485033.2	+	8	1062	c.1062C>G	c.(1060-1062)ctC>ctG	p.L354L	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.L354L|KRBA1_ENST00000255992.10_Silent_p.L354L			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	354										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCAGCCCCTCAGTCCCTCAG	0.642																																						uc003wfz.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1060-1062)CTC>CTG		KRAB A domain containing 1							17.0	21.0	20.0					7																	149421876		1924	4112	6036	SO:0001819	synonymous_variant	84626							g.chr7:149421876C>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1062C>G	7.37:g.149421876C>G						KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.L22L	p.L354L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		9	1461	+	Melanoma(164;0.165)|Ovarian(565;0.177)		354					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.1062C>G																																																																																					0.642	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3		NM_032534		4	7	0	0	0	0.009096	0	4	7		
KMT2C	58508	broad.mit.edu	37	7	151902229	151902229	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:151902229G>C	ENST00000262189.6	-	25	4141	c.3923C>G	c.(3922-3924)tCa>tGa	p.S1308*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1308*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1308					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AATAGAGCCTGAGGAATCTTT	0.358																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3922-3924)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							75.0	66.0	69.0					7																	151902229		2203	4299	6502	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151902229G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3923C>G	7.37:g.151902229G>C	ENSP00000262189:p.Ser1308*					MLL3_uc003wkz.2_Nonsense_Mutation_p.S369*	p.S1308*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	25	4142	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1308					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.3923C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	46	12.168410	0.99643	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.71	5.71	0.89125	.	0.000000	0.37715	N	0.001979	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8604	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	X	1308	.	ENSP00000262189:S1308X	S	-	2	0	MLL3	151533162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.839000	0.92120	2.699000	0.92147	0.650000	0.86243	TCA		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				5	25	0	0	0	0.014758	0	5	25		
DPP6	1804	broad.mit.edu	37	7	154659794	154659794	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:154659794G>T	ENST00000377770.3	+	18	1945	c.1804G>T	c.(1804-1806)Gat>Tat	p.D602Y	DPP6_ENST00000332007.3_Missense_Mutation_p.D540Y|DPP6_ENST00000404039.1_Missense_Mutation_p.D538Y|DPP6_ENST00000427557.1_Missense_Mutation_p.D495Y|RP11-476H24.1_ENST00000448767.1_RNA			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	602					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATTGAGATTGATGATTACAG	0.413																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NaN																	0				pancreas(3)|breast(1)	4						c.(1804-1806)GAT>TAT		dipeptidyl-peptidase 6 isoform 1							94.0	91.0	92.0					7																	154659794		1902	4137	6039	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154659794G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1804G>T	7.37:g.154659794G>T	ENSP00000367001:p.Asp602Tyr					DPP6_uc003wli.2_Missense_Mutation_p.D538Y|DPP6_uc003wlm.2_Missense_Mutation_p.D540Y|DPP6_uc011kvq.1_Missense_Mutation_p.D495Y	p.D602Y	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		18	1933	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	602			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.1804G>T		.	.	.	.	.	.	.	.	.	.	G	10.27	1.304472	0.23736	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.78	4.78	0.61160	.	0.187969	0.56097	D	0.000035	T	0.64438	0.2598	M	0.88377	2.95	0.50467	D	0.99987	B;B;B;B	0.32010	0.147;0.18;0.351;0.202	B;B;B;B	0.38428	0.181;0.273;0.185;0.141	T	0.71537	-0.4563	10	0.87932	D	0	-18.6221	14.3388	0.66611	0.0:0.149:0.851:0.0	.	495;540;602;538	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	Y	538;602;540;495	ENSP00000385578:D538Y;ENSP00000367001:D602Y;ENSP00000328226:D540Y;ENSP00000397303:D495Y	ENSP00000328226:D540Y	D	+	1	0	DPP6	154290727	1.000000	0.71417	0.835000	0.33067	0.063000	0.16089	5.744000	0.68664	2.190000	0.69967	0.655000	0.94253	GAT		0.413	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1		NM_130797		4	12	1	0	0.00909568	0.009096	0.00917594	4	12		
DLC1	10395	broad.mit.edu	37	8	12957784	12957784	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:12957784A>T	ENST00000276297.4	-	9	2471	c.2062T>A	c.(2062-2064)Tca>Aca	p.S688T	DLC1_ENST00000358919.2_Missense_Mutation_p.S251T|DLC1_ENST00000520226.1_Missense_Mutation_p.S177T|DLC1_ENST00000512044.2_Missense_Mutation_p.S285T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	688					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCCAGCTTTGAGGGCGCTTTG	0.562																																						uc003wwm.2		NaN																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2062-2064)TCA>ACA		deleted in liver cancer 1 isoform 1							95.0	90.0	91.0					8																	12957784		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957784A>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2062T>A	8.37:g.12957784A>T	ENSP00000276297:p.Ser688Thr					DLC1_uc003wwk.1_Missense_Mutation_p.S251T|DLC1_uc003wwl.1_Missense_Mutation_p.S285T|DLC1_uc011kxx.1_Missense_Mutation_p.S177T	p.S688T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2506	-			688					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2062T>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	1.983	-0.433704	0.04669	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.05925	3.62;3.38;3.38;3.37	4.84	-0.164	0.13359	.	0.468881	0.25025	N	0.033734	T	0.04497	0.0123	L	0.38531	1.155	0.54753	D	0.999986	B;B;B	0.28378	0.209;0.017;0.041	B;B;B	0.20384	0.021;0.01;0.029	T	0.43410	-0.9393	10	0.42905	T	0.14	.	6.7192	0.23321	0.7069:0.1228:0.1703:0.0	.	688;285;251	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	688;251;285;177	ENSP00000276297:S688T;ENSP00000351797:S251T;ENSP00000422595:S285T;ENSP00000428028:S177T	ENSP00000276297:S688T	S	-	1	0	DLC1	13002155	0.203000	0.23435	0.026000	0.17262	0.335000	0.28730	0.848000	0.27710	0.076000	0.16826	-0.316000	0.08728	TCA		0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		19	28	0	0	0	0.007413	0	19	28		
ST18	9705	broad.mit.edu	37	8	53126796	53126796	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:53126796T>C	ENST00000276480.7	-	7	705	c.22A>G	c.(22-24)Aaa>Gaa	p.K8E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	8					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGCAGCGTTTTATCTTCAGCC	0.428																																						uc003xqz.2		NaN																	0				ovary(4)|skin(1)	5						c.(22-24)AAA>GAA		suppression of tumorigenicity 18							195.0	161.0	173.0					8																	53126796		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53126796T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.22A>G	8.37:g.53126796T>C	ENSP00000276480:p.Lys8Glu					ST18_uc011ldq.1_Translation_Start_Site|ST18_uc011ldr.1_Translation_Start_Site|ST18_uc011lds.1_Translation_Start_Site|ST18_uc003xra.2_Missense_Mutation_p.K8E|ST18_uc003xrb.2_Missense_Mutation_p.K8E|ST18_uc010lyb.2_RNA	p.K8E	NM_014682	NP_055497	O60284	ST18_HUMAN			2	178	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	8					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.22A>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941618	0.73557	.	.	ENSG00000147488	ENST00000276480;ENST00000517580;ENST00000519118	T;T	0.49720	0.8;0.77	5.49	5.49	0.81192	.	0.366748	0.28504	N	0.015113	T	0.43831	0.1265	L	0.55990	1.75	0.26108	N	0.980725	B	0.32573	0.376	B	0.23852	0.049	T	0.50118	-0.8865	10	0.87932	D	0	-4.7653	15.8844	0.79232	0.0:0.0:0.0:1.0	.	8	O60284	ST18_HUMAN	E	8	ENSP00000276480:K8E;ENSP00000428521:K8E	ENSP00000276480:K8E	K	-	1	0	ST18	53289349	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.978000	0.40598	2.218000	0.71995	0.533000	0.62120	AAA		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1				29	47	0	0	0	0.007291	0	29	47		
RPS20	6224	broad.mit.edu	37	8	56986683	56986683	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:56986683C>T	ENST00000521262.1	-	2	292	c.39G>A	c.(37-39)ccG>ccA	p.P13P	RPS20_ENST00000518875.1_Silent_p.P13P|RPS20_ENST00000519807.1_Silent_p.P13P|CTA-397H3.3_ENST00000521403.1_RNA|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000523936.1_Silent_p.P13P|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000519606.1_Silent_p.P13P|RPS20_ENST00000009589.3_Silent_p.P13P|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000520627.1_Intron			P60866	RS20_HUMAN	ribosomal protein S20	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			TTGCCACCTCCGGCTCCACGG	0.463																																						uc003xsn.2		NaN																	0					0						c.(37-39)CCG>CCA		ribosomal protein S20 isoform 2							67.0	71.0	69.0					8																	56986683		2202	4299	6501	SO:0001819	synonymous_variant	6224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr8:56986683C>T	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.39G>A	8.37:g.56986683C>T						RPS20_uc003xsm.2_Silent_p.P13P|SNORD54_uc003xso.1_5'Flank|RPS20_uc011lea.1_5'Flank	p.P13P	NM_001023	NP_001014	P60866	RS20_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		2	237	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	13					B2R4F4|B4DW28|P17075|Q5M8S9	Silent	SNP	ENST00000521262.1	37	c.39G>A																																																																																					0.463	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1		NM_001023		11	98	0	0	0	0.010729	0	11	98		
PENK	5179	broad.mit.edu	37	8	57354059	57354059	+	Silent	SNP	G	G	A	rs145346210		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:57354059G>A	ENST00000314922.3	-	2	652	c.576C>T	c.(574-576)ggC>ggT	p.G192G	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.G192G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	192					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCTCTTTAAGCCTCTCATGA	0.527																																						uc003xsz.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(574-576)GGC>GGT		proenkephalin		G	,	1,4405	2.1+/-5.4	0,1,2202	117.0	122.0	120.0		576,576	3.1	0.4	8	dbSNP_134	120	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PENK	NM_001135690.1,NM_006211.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	192/268,192/268	57354059	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354059G>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.576C>T	8.37:g.57354059G>A						PENK_uc003xta.3_Silent_p.G192G	p.G192G	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	657	-		all_lung(136;0.229)	192					B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	c.576C>T	CCDS6168.1																																																																																				0.527	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1				60	78	0	0	0	0.01441	0	60	78		
PREX2	80243	broad.mit.edu	37	8	69005891	69005891	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:69005891C>T	ENST00000288368.4	+	21	2579	c.2302C>T	c.(2302-2304)Ctt>Ttt	p.L768F	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	768					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L768I(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCAAGAAGACCTTCAAAAATC	0.408																																						uc003xxv.1		NaN																	1	Substitution - Missense(1)	p.L768I(1)	ovary(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2302-2304)CTT>TTT		DEP domain containing 2 isoform a							116.0	117.0	116.0					8																	69005891		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69005891C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2302C>T	8.37:g.69005891C>T	ENSP00000288368:p.Leu768Phe					PREX2_uc003xxu.1_Missense_Mutation_p.L768F|PREX2_uc011lez.1_Missense_Mutation_p.L703F	p.L768F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			21	2329	+			768					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2302C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117882	0.37339	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.35789	1.29	5.66	4.76	0.60689	.	0.214588	0.41500	D	0.000868	T	0.22589	0.0545	N	0.22421	0.69	0.30355	N	0.784408	P;B;P	0.41265	0.744;0.077;0.573	B;B;B	0.34722	0.188;0.034;0.165	T	0.07790	-1.0754	10	0.24483	T	0.36	.	13.363	0.60667	0.2958:0.7042:0.0:0.0	.	768;768;768	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	F	768	ENSP00000288368:L768F	ENSP00000288368:L768F	L	+	1	0	PREX2	69168445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.710000	0.47169	1.325000	0.45301	0.650000	0.86243	CTT		0.408	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		18	141	0	0	0	0.00499	0	18	141		
EYA1	2138	broad.mit.edu	37	8	72211939	72211939	+	Silent	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:72211939T>A	ENST00000340726.3	-	8	1212	c.573A>T	c.(571-573)acA>acT	p.T191T	EYA1_ENST00000303824.7_Silent_p.T185T|EYA1_ENST00000388741.2_Silent_p.T157T|EYA1_ENST00000419131.1_Silent_p.T186T|EYA1_ENST00000388743.2_Silent_p.T190T|EYA1_ENST00000388742.4_Silent_p.T191T|EYA1_ENST00000388740.3_Silent_p.T158T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	191					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCCTGATGATGTTGTAAAAC	0.318																																						uc003xys.3		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(571-573)ACA>ACT		eyes absent 1 isoform b							107.0	115.0	112.0					8																	72211939		2202	4298	6500	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211939T>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.573A>T	8.37:g.72211939T>A						EYA1_uc003xyr.3_Silent_p.T186T|EYA1_uc003xyt.3_Silent_p.T158T|EYA1_uc010lzf.2_Silent_p.T118T|EYA1_uc003xyu.2_Silent_p.T191T|EYA1_uc011lfe.1_Silent_p.T185T|EYA1_uc003xyv.2_Silent_p.T69T	p.T191T	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		7	860	-	Breast(64;0.046)		191					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.573A>T	CCDS34906.1																																																																																				0.318	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2		NM_000503, NM_172060		13	91	0	0	0	0.020292	0	13	91		
JPH1	56704	broad.mit.edu	37	8	75156998	75156998	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:75156998C>T	ENST00000342232.4	-	4	1711	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	557					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGGGGGCGTTCAGCTTCACGT	0.602																																						uc003yae.2		NaN																	0				ovary(1)	1						c.(1669-1671)CTG>CTA		junctophilin 1							79.0	72.0	75.0					8																	75156998		2203	4300	6503	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75156998C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1671G>A	8.37:g.75156998C>T						JPH1_uc003yaf.2_Silent_p.L557L|JPH1_uc003yag.1_Silent_p.L421L	p.L557L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1711	-	Breast(64;0.00576)		557			Cytoplasmic (Potential).		B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.1671G>A	CCDS6217.1																																																																																				0.602	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1				18	97	0	0	0	0.006122	0	18	97		
MATN2	4147	broad.mit.edu	37	8	98943551	98943551	+	Silent	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:98943551G>C	ENST00000520016.1	+	2	637	c.513G>C	c.(511-513)ggG>ggC	p.G171G	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Silent_p.G171G|MATN2_ENST00000521689.1_Silent_p.G171G|MATN2_ENST00000524308.1_Silent_p.G171G			O00339	MATN2_HUMAN	matrilin 2	171	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGACAGATGGGAGACCTCAGG	0.582																																						uc003yic.2		NaN																	0				ovary(2)	2						c.(511-513)GGG>GGC		matrilin 2 isoform a precursor							39.0	44.0	42.0					8																	98943551		2123	4239	6362	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943551G>C	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.513G>C	8.37:g.98943551G>C						MATN2_uc003yib.1_Silent_p.G171G|MATN2_uc010mbh.1_Silent_p.G171G|MATN2_uc003yid.2_Silent_p.G171G|MATN2_uc003yie.1_Silent_p.G171G|MATN2_uc010mbi.1_Silent_p.G45G	p.G171G	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	744	+	Breast(36;1.43e-06)		171			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.513G>C	CCDS55264.1																																																																																				0.582	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1				7	31	0	0	0	0.006214	0	7	31		
RGS22	26166	broad.mit.edu	37	8	101074892	101074892	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:101074892C>G	ENST00000360863.6	-	9	1635	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	RGS22_ENST00000523437.1_Missense_Mutation_p.D469H|RGS22_ENST00000523287.1_Missense_Mutation_p.D300H	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	481					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTGATCCATCTAACAGTTTA	0.308																																						uc003yjb.1		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1441-1443)GAT>CAT		regulator of G-protein signaling 22							90.0	84.0	86.0					8																	101074892		1811	4069	5880	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101074892C>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1441G>C	8.37:g.101074892C>G	ENSP00000354109:p.Asp481His					RGS22_uc003yja.1_Missense_Mutation_p.D300H|RGS22_uc003yjc.1_Missense_Mutation_p.D469H|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.D481H	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		9	1636	-			481					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1441G>C	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910852	0.17833	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.30182	1.54;1.54;1.54	5.11	3.29	0.37713	Regulator of G protein signalling superfamily (1);	0.534254	0.18499	N	0.139411	T	0.20373	0.0490	L	0.32530	0.975	0.25308	N	0.989226	B;B;B	0.20671	0.022;0.022;0.047	B;B;B	0.22386	0.018;0.018;0.039	T	0.21793	-1.0235	10	0.21540	T	0.41	.	6.995	0.24777	0.0:0.5571:0.2904:0.1524	.	469;481;300	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	H	481;469;300;469	ENSP00000354109:D481H;ENSP00000429382:D300H;ENSP00000428212:D469H	ENSP00000354109:D481H	D	-	1	0	RGS22	101144068	0.126000	0.22350	0.988000	0.46212	0.847000	0.48162	0.280000	0.18790	0.630000	0.30394	0.650000	0.86243	GAT		0.308	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668		5	115	0	0	0	0.001168	0	5	115		
RGS22	26166	broad.mit.edu	37	8	101074973	101074973	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:101074973C>T	ENST00000360863.6	-	9	1554	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	RGS22_ENST00000523437.1_Missense_Mutation_p.E442K|RGS22_ENST00000523287.1_Missense_Mutation_p.E273K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	454					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCATCTTCTCAAGATGTCTG	0.313																																						uc003yjb.1		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1360-1362)GAG>AAG		regulator of G-protein signaling 22							67.0	62.0	64.0					8																	101074973		1815	4070	5885	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101074973C>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1360G>A	8.37:g.101074973C>T	ENSP00000354109:p.Glu454Lys					RGS22_uc003yja.1_Missense_Mutation_p.E273K|RGS22_uc003yjc.1_Missense_Mutation_p.E442K|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.E454K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		9	1555	-			454					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1360G>A	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822586	0.71028	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.61742	0.08;0.08;0.08	4.89	4.89	0.63831	Regulator of G protein signalling superfamily (1);	0.261873	0.32175	N	0.006473	T	0.67524	0.2902	L	0.60455	1.87	0.27959	N	0.936838	D;D;D	0.69078	0.979;0.958;0.997	P;P;D	0.66716	0.604;0.45;0.946	T	0.60566	-0.7238	10	0.34782	T	0.22	.	10.1983	0.43067	0.0:0.844:0.0:0.156	.	442;454;273	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	K	454;442;273;442	ENSP00000354109:E454K;ENSP00000429382:E273K;ENSP00000428212:E442K	ENSP00000354109:E454K	E	-	1	0	RGS22	101144149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.765000	0.38481	2.397000	0.81536	0.650000	0.86243	GAG		0.313	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668		5	92	0	0	0	0.014758	0	5	92		
LRP12	29967	broad.mit.edu	37	8	105511547	105511547	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:105511547G>A	ENST00000276654.5	-	4	581	c.473C>T	c.(472-474)tCa>tTa	p.S158L	LRP12_ENST00000424843.2_Missense_Mutation_p.S139L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	158	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAACACACCTGAAAAATATGC	0.353																																						uc003yma.2		NaN																	0					0						c.(472-474)TCA>TTA		low density lipoprotein-related protein 12							87.0	93.0	91.0					8																	105511547		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105511547G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.473C>T	8.37:g.105511547G>A	ENSP00000276654:p.Ser158Leu					LRP12_uc003ymb.2_Missense_Mutation_p.S139L	p.S158L	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	568	-			158			Extracellular (Potential).|CUB 1.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.473C>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883776	0.72410	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.85088	-1.94;-1.87	5.63	5.63	0.86233	CUB (3);	0.116787	0.64402	D	0.000016	D	0.83562	0.5281	L	0.55213	1.73	0.80722	D	1	B;B	0.22683	0.073;0.043	B;B	0.21917	0.037;0.016	T	0.78178	-0.2305	10	0.29301	T	0.29	-16.6512	19.6873	0.95984	0.0:0.0:1.0:0.0	.	139;158	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	L	139;158	ENSP00000399148:S139L;ENSP00000276654:S158L	ENSP00000276654:S158L	S	-	2	0	LRP12	105580723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.916000	0.75776	2.650000	0.89964	0.557000	0.71058	TCA		0.353	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1		NM_013437		8	123	0	0	0	0.004482	0	8	123		
COL22A1	169044	broad.mit.edu	37	8	139691860	139691860	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:139691860C>T	ENST00000303045.6	-	40	3518	c.3072G>A	c.(3070-3072)aaG>aaA	p.K1024K	COL22A1_ENST00000435777.1_Intron|COL22A1_ENST00000341807.4_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1024	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCACTGACCTTAACACATT	0.413										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3070-3072)AAG>AAA		collagen, type XXII, alpha 1							171.0	149.0	157.0					8																	139691860		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139691860C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3072+1G>A	8.37:g.139691860C>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Intron	p.K1024K	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		40	3519	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1024			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3072G>A	CCDS6376.1																																																																																				0.413	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257	Silent	12	70	0	0	0	0.013537	0	12	70		
SHARPIN	81858	broad.mit.edu	37	8	145154091	145154091	+	Nonsense_Mutation	SNP	G	G	A	rs201083501		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:145154091G>A	ENST00000398712.2	-	7	1376	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	314					apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGGTGCTGAGGGCTAGGT	0.672																																						uc003zba.2		NaN																	0				ovary(1)	1						c.(940-942)CAG>TAG		shank-interacting protein-like 1		G	stop/GLN	0,3886		0,0,1943	23.0	27.0	26.0		940	2.5	0.0	8		26	1,8273		0,1,4136	yes	stop-gained	SHARPIN	NM_030974.3		0,1,6079	AA,AG,GG		0.0121,0.0,0.0082		314/388	145154091	1,12159	1943	4137	6080	SO:0001587	stop_gained	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154091G>A	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.940C>T	8.37:g.145154091G>A	ENSP00000381698:p.Gln314*					SHARPIN_uc003zbb.2_Intron	p.Q314*	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1424	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		314					A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Nonsense_Mutation	SNP	ENST00000398712.2	37	c.940C>T	CCDS43777.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627647	0.87560	0.0	1.21E-4	ENSG00000179526	ENST00000532536;ENST00000398712	.	.	.	4.45	2.54	0.30619	.	0.614006	0.16648	N	0.205333	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	5.3862	0.16220	0.107:0.0:0.6944:0.1985	.	.	.	.	X	22;314	.	ENSP00000381698:Q314X	Q	-	1	0	SHARPIN	145226079	0.278000	0.24230	0.022000	0.16811	0.219000	0.24729	2.047000	0.41269	1.053000	0.40415	0.555000	0.69702	CAG		0.672	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1		NM_030974		13	18	0	0	0	0.016723	0	13	18		
ZNF7	7553	broad.mit.edu	37	8	146068516	146068516	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:146068516C>G	ENST00000528372.1	+	5	2264	c.2024C>G	c.(2023-2025)tCa>tGa	p.S675*	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Nonsense_Mutation_p.S686*|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.S579*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.S675*			P17097	ZNF7_HUMAN	zinc finger protein 7	675					multicellular organismal development (GO:0007275)|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(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATCGTAGCTCAAGGCTTACC	0.358																																						uc003zeg.3		NaN																	0				ovary(4)	4						c.(2023-2025)TCA>TGA		zinc finger protein 7							104.0	112.0	109.0					8																	146068516		2203	4300	6503	SO:0001587	stop_gained	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068516C>G	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.2024C>G	8.37:g.146068516C>G	ENSP00000432724:p.Ser675*					ZNF7_uc010mge.2_Nonsense_Mutation_p.S686*|ZNF7_uc011lln.1_Nonsense_Mutation_p.S579*|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Nonsense_Mutation_p.S579*|COMMD5_uc003zel.1_Intron	p.S675*	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	2161	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	675			C2H2-type 15.		B4DT08|D3DWN6|P17015|Q8N8Y4	Nonsense_Mutation	SNP	ENST00000528372.1	37	c.2024C>G	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	C	36	5.969811	0.97156	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	.	.	.	4.36	3.49	0.39957	.	0.236629	0.22094	N	0.064708	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.675	7.6122	0.28137	0.0:0.7421:0.1662:0.0916	.	.	.	.	X	675;686;579;675	.	.	S	+	2	0	ZNF7	146039320	0.006000	0.16342	0.778000	0.31720	0.984000	0.73092	0.138000	0.16016	1.209000	0.43321	0.655000	0.94253	TCA		0.358	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1		NM_003416		62	83	0	0	0	0.01441	0	62	83		
RFX3	5991	broad.mit.edu	37	9	3263030	3263030	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:3263030G>A	ENST00000382004.3	-	14	1821	c.1510C>T	c.(1510-1512)Cac>Tac	p.H504Y	RFX3_ENST00000358730.2_Missense_Mutation_p.H504Y|RFX3_ENST00000302303.1_Missense_Mutation_p.H504Y	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	504					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|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)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGGGCCAGGTGATTAAGCGAC	0.493																																						uc003zhr.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1510-1512)CAC>TAC		regulatory factor X3 isoform b							176.0	151.0	160.0					9																	3263030		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3263030G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1510C>T	9.37:g.3263030G>A	ENSP00000371434:p.His504Tyr					RFX3_uc010mhd.2_Missense_Mutation_p.H504Y|RFX3_uc003zhs.1_Missense_Mutation_p.H504Y	p.H504Y	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	14	1822	-			504					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1510C>T	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349073	0.95807	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	M	0.87971	2.92	0.80722	D	1	D;P	0.89917	1.0;0.938	D;P	0.80764	0.994;0.676	T	0.77109	-0.2709	10	0.72032	D	0.01	-19.5698	20.8598	0.99761	0.0:0.0:1.0:0.0	.	504;504	P48380-2;P48380	.;RFX3_HUMAN	Y	504;504;504;77	ENSP00000371434:H504Y;ENSP00000351574:H504Y;ENSP00000303847:H504Y;ENSP00000400026:H77Y	ENSP00000303847:H504Y	H	-	1	0	RFX3	3253030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CAC		0.493	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1		NM_002919		42	38	0	0	0	0.00623	0	42	38		
GLIS3	169792	broad.mit.edu	37	9	4118290	4118290	+	Silent	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:4118290T>C	ENST00000324333.10	-	3	916	c.723A>G	c.(721-723)caA>caG	p.Q241Q	GLIS3_ENST00000381971.3_Silent_p.Q396Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	241					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCTCCAGCTGTTGCATGCGCT	0.731																																						uc003zhw.1		NaN																	0				ovary(1)	1						c.(721-723)CAA>CAG		GLIS family zinc finger 3 isoform b							4.0	5.0	4.0					9																	4118290		1800	3553	5353	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118290T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.723A>G	9.37:g.4118290T>C						GLIS3_uc003zhx.1_Silent_p.Q396Q|GLIS3_uc003zic.1_Silent_p.Q396Q|GLIS3_uc003zie.1_Silent_p.Q396Q|GLIS3_uc010mhh.1_Silent_p.Q271Q|GLIS3_uc003zid.1_Silent_p.Q174Q|GLIS3_uc010mhi.1_Silent_p.Q203Q|GLIS3_uc003zif.1_Silent_p.Q174Q|GLIS3_uc003zig.1_Silent_p.Q240Q|GLIS3_uc003zih.1_Silent_p.Q174Q|GLIS3_uc003zhy.1_Silent_p.Q174Q|GLIS3_uc003zhz.1_Silent_p.Q174Q|GLIS3_uc003zib.1_Silent_p.Q240Q|GLIS3_uc010mhg.1_Silent_p.Q174Q	p.Q241Q	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	917	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	241					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.723A>G	CCDS6451.1																																																																																				0.731	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1		NM_152629		3	1	0	0	0	0.004672	0	3	1		
CNTNAP3	79937	broad.mit.edu	37	9	39109271	39109271	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:39109271T>C	ENST00000297668.6	-	15	2324	c.2251A>G	c.(2251-2253)Ata>Gta	p.I751V	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I750V|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I663V	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	751	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGGACTATTGTGTCACTA	0.433																																						uc004abi.2		NaN																	0				ovary(1)	1						c.(2251-2253)ATA>GTA		cell recognition molecule CASPR3 precursor							37.0	33.0	34.0					9																	39109271		2203	4297	6500	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39109271T>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2251A>G	9.37:g.39109271T>C	ENSP00000297668:p.Ile751Val					CNTNAP3_uc004abj.2_Missense_Mutation_p.I750V|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.I751V	p.I751V	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	15	2490	-			751			Fibrinogen C-terminal.|Extracellular (Potential).		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.2251A>G	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	T	8.774	0.926617	0.18056	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.09255	3.0;3.0;3.0	2.99	-1.12	0.09808	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.47441	D	0.999428	B;B;B	0.13594	0.0;0.008;0.0	B;B;B	0.15870	0.006;0.014;0.002	T	0.29427	-1.0012	9	0.62326	D	0.03	.	7.4588	0.27283	0.0:0.6411:0.0:0.3589	.	751;750;751	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	V	751;750;663	ENSP00000297668:I751V;ENSP00000366884:I750V;ENSP00000350863:I663V	ENSP00000297668:I751V	I	-	1	0	CNTNAP3	39099271	0.319000	0.24607	0.018000	0.16275	0.610000	0.37248	2.850000	0.48294	-0.383000	0.07858	0.254000	0.18369	ATA		0.433	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1		NM_033655		11	8	0	0	0	0.010729	0	11	8		
PRUNE2	158471	broad.mit.edu	37	9	79441572	79441572	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:79441572C>G	ENST00000376718.3	-	5	708	c.585G>C	c.(583-585)ctG>ctC	p.L195L	PRUNE2_ENST00000376713.3_Silent_p.L195L|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	195					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTTTTCTTCCAGGATAGAAA	0.443																																						uc010mpk.2		NaN																	0					0						c.(583-585)CTG>CTC		prune homolog 2							98.0	95.0	96.0					9																	79441572		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79441572C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.585G>C	9.37:g.79441572C>G						PRUNE2_uc004akn.2_Silent_p.L195L	p.L195L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			5	709	-			195					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.585G>C	CCDS47982.1																																																																																				0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818		16	88	0	0	0	0.003163	0	16	88		
OGN	4969	broad.mit.edu	37	9	95152326	95152326	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:95152326C>G	ENST00000262551.4	-	5	860	c.440G>C	c.(439-441)aGa>aCa	p.R147T	OGN_ENST00000468743.1_5'UTR|CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.R147T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	147					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AAAATCGAGTCTTCTTAAGTT	0.294																																						uc004asa.2		NaN																	0					0						c.(439-441)AGA>ACA		osteoglycin preproprotein							50.0	54.0	53.0					9																	95152326		2203	4296	6499	SO:0001583	missense	4969					extracellular space|proteinaceous extracellular matrix	growth factor activity	g.chr9:95152326C>G	AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.440G>C	9.37:g.95152326C>G	ENSP00000262551:p.Arg147Thr					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Missense_Mutation_p.R147T|OGN_uc011ltx.1_Missense_Mutation_p.R165T	p.R147T	NM_014057	NP_054776	P20774	MIME_HUMAN			5	675	-			147			LRR 2.		Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	ENST00000262551.4	37	c.440G>C	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468382	0.84533	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.56103	0.48;0.48;0.48	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	N	0.13299	0.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.58853	-0.7563	10	0.32370	T	0.25	.	19.263	0.93975	0.0:1.0:0.0:0.0	.	205;147	B4DI63;P20774	.;MIME_HUMAN	T	147;147;205	ENSP00000262551:R147T;ENSP00000364711:R147T;ENSP00000396709:R205T	ENSP00000262551:R147T	R	-	2	0	OGN	94192147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.656000	0.67988	2.643000	0.89663	0.655000	0.94253	AGA		0.294	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1		NM_024416		13	33	0	0	0	0.020292	0	13	33		
BICD2	23299	broad.mit.edu	37	9	95481333	95481333	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:95481333C>T	ENST00000375512.3	-	5	1661	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	BICD2_ENST00000356884.6_Missense_Mutation_p.E532K	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	532					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAGCTCCTCACTGAAGGTC	0.632																																						uc004aso.1		NaN																	0				skin(1)	1						c.(1594-1596)GAG>AAG		bicaudal D homolog 2 isoform 2							111.0	88.0	96.0					9																	95481333		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481333C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1594G>A	9.37:g.95481333C>T	ENSP00000364662:p.Glu532Lys					BICD2_uc004asp.1_Missense_Mutation_p.E532K	p.E532K	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			5	1651	-			532			Potential.		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1594G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344944	0.95807	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.55930	0.49;0.49	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.82716	2.605	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	T	0.74685	-0.3582	10	0.40728	T	0.16	-34.2877	17.0121	0.86409	0.0:1.0:0.0:0.0	.	532;532	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	K	532	ENSP00000349351:E532K;ENSP00000364662:E532K	ENSP00000349351:E532K	E	-	1	0	BICD2	94521154	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	7.644000	0.83416	2.707000	0.92482	0.561000	0.74099	GAG		0.632	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1		NM_015250		28	28	0	0	0	0.008361	0	28	28		
PLPPR1	54886	broad.mit.edu	37	9	104048468	104048468	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:104048468G>C	ENST00000374874.3	+	4	774	c.335G>C	c.(334-336)gGa>gCa	p.G112A	LPPR1_ENST00000395056.2_Missense_Mutation_p.G112A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		112					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										ATTCTGACCGGAGAATGCTGT	0.373																																						uc004bbb.2		NaN																	0					0						c.(334-336)GGA>GCA		plasticity related gene 3							105.0	99.0	101.0					9																	104048468		2203	4300	6503	SO:0001583	missense	54886					integral to membrane	catalytic activity	g.chr9:104048468G>C																												ENST00000374874.3:c.335G>C	9.37:g.104048468G>C	ENSP00000364008:p.Gly112Ala					LPPR1_uc011lvi.1_Missense_Mutation_p.G88A|LPPR1_uc004bbc.2_Missense_Mutation_p.G112A|LPPR1_uc010mtc.2_Missense_Mutation_p.G96A	p.G112A	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN			4	734	+			112					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.335G>C	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970058	0.92855	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.51817	0.69;0.69	5.93	5.93	0.95920	.	0.056737	0.64402	D	0.000001	T	0.63745	0.2537	L	0.52364	1.645	0.80722	D	1	D;D	0.76494	0.985;0.999	P;D	0.80764	0.866;0.994	T	0.53599	-0.8416	10	0.22109	T	0.4	-28.5225	19.3347	0.94312	0.0:0.0:1.0:0.0	.	96;112	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	A	112	ENSP00000364008:G112A;ENSP00000378496:G112A	ENSP00000364005:G112A	G	+	2	0	RP11-35N6.1	103088289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.798000	0.96311	0.655000	0.94253	GGA		0.373	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1				15	53	0	0	0	0.020292	0	15	53		
RGS3	5998	broad.mit.edu	37	9	116346235	116346235	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:116346235C>T	ENST00000374140.2	+	21	2752	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	RGS3_ENST00000374134.3_Missense_Mutation_p.A169V|RGS3_ENST00000350696.5_Missense_Mutation_p.A848V|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.A567V|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.A169V|RGS3_ENST00000342620.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	848					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GACCCACCTGCGGCCCCCAGG	0.642																																						uc004bhq.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(2542-2544)GCG>GTG		regulator of G-protein signalling 3 isoform 6							49.0	55.0	52.0					9																	116346235		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116346235C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2543C>T	9.37:g.116346235C>T	ENSP00000363255:p.Ala848Val					RGS3_uc004bhs.2_Missense_Mutation_p.A738V|RGS3_uc004bht.2_Missense_Mutation_p.A567V|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Missense_Mutation_p.A169V|RGS3_uc010muz.1_Missense_Mutation_p.A187V|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.A158V|RGS3_uc004bhx.2_Missense_Mutation_p.A169V|RGS3_uc004bhy.1_Missense_Mutation_p.A158V|RGS3_uc004bhz.2_Missense_Mutation_p.A190V	p.A848V	NM_144488	NP_652759	P49796	RGS3_HUMAN			21	2752	+			848					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.2543C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	9.505	1.104194	0.20632	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.56611	0.94;0.94;0.45;0.46;0.46	4.78	-5.03	0.02973	.	1.626360	0.03256	N	0.182541	T	0.22820	0.0551	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B;B	0.20261	0.043;0.003;0.011;0.003;0.002;0.003	B;B;B;B;B;B	0.12837	0.008;0.001;0.002;0.001;0.0;0.001	T	0.11641	-1.0579	10	0.31617	T	0.26	.	5.7437	0.18108	0.0:0.2412:0.2463:0.5125	.	187;744;169;567;738;848	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	V	848;848;567;169;169	ENSP00000363255:A848V;ENSP00000259406:A848V;ENSP00000340284:A567V;ENSP00000420356:A169V;ENSP00000363249:A169V	ENSP00000340284:A567V	A	+	2	0	RGS3	115386056	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.237000	0.08990	-1.184000	0.02720	-0.251000	0.11542	GCG		0.642	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3		NM_017790		41	49	0	0	0	0.006999	0	41	49		
DDX31	64794	broad.mit.edu	37	9	135523856	135523856	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:135523856T>A	ENST00000372159.3	-	10	1289	c.1138A>T	c.(1138-1140)Agt>Tgt	p.S380C	DDX31_ENST00000438527.3_Missense_Mutation_p.S251C|DDX31_ENST00000310532.2_Missense_Mutation_p.S380C|DDX31_ENST00000372153.1_Missense_Mutation_p.S380C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	380	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CGCAGCCGACTAAAATGAATG	0.433																																						uc004cbq.1		NaN																	0				central_nervous_system(1)	1						c.(1138-1140)AGT>TGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							118.0	125.0	122.0					9																	135523856		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135523856T>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1138A>T	9.37:g.135523856T>A	ENSP00000361232:p.Ser380Cys					DDX31_uc010mzu.1_Missense_Mutation_p.S380C|DDX31_uc004cbr.1_Missense_Mutation_p.S380C	p.S380C	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	10	1290	-			380			Helicase ATP-binding.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1138A>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.847843	0.51164	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	6.17	3.8	0.43715	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.403858	0.35838	N	0.002945	T	0.23806	0.0576	M	0.81802	2.56	0.80722	D	1	B;B	0.22851	0.067;0.076	B;B	0.28139	0.028;0.086	T	0.02736	-1.1117	10	0.62326	D	0.03	-0.587	8.5985	0.33729	0.1132:0.0:0.2824:0.6044	.	380;380	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	C	380;380;380;251;380	ENSP00000361232:S380C;ENSP00000361226:S380C;ENSP00000387730:S251C;ENSP00000310539:S380C	ENSP00000310539:S380C	S	-	1	0	DDX31	134513677	0.990000	0.36364	0.177000	0.23020	0.955000	0.61496	1.566000	0.36396	0.528000	0.28580	0.533000	0.62120	AGT		0.433	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1		NM_138620		37	112	0	0	0	0.00623	0	37	112		
KDM6A	7403	broad.mit.edu	37	X	44870231	44870231	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:44870231G>T	ENST00000377967.4	+	5	451	c.410G>T	c.(409-411)gGt>gTt	p.G137V	KDM6A_ENST00000382899.4_Missense_Mutation_p.G137V|KDM6A_ENST00000536777.1_Missense_Mutation_p.G137V|KDM6A_ENST00000543216.1_Missense_Mutation_p.G137V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	137	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATGGTCTTGGTTTGGTCTAC	0.299			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		19	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(1)	p.0(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(409-411)GGT>GTT		ubiquitously transcribed tetratricopeptide							132.0	110.0	117.0					X																	44870231		2203	4299	6502	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44870231G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.410G>T	X.37:g.44870231G>T	ENSP00000367203:p.Gly137Val					KDM6A_uc010nhk.2_Missense_Mutation_p.G137V|KDM6A_uc011mkz.1_Missense_Mutation_p.G137V|KDM6A_uc011mla.1_Missense_Mutation_p.G137V|KDM6A_uc011mlb.1_Missense_Mutation_p.G137V|KDM6A_uc011mlc.1_5'UTR	p.G137V	NM_021140	NP_066963	O15550	KDM6A_HUMAN			5	785	+			137			TPR 2.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.410G>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555019	0.86231	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	0.961;0.993;0.997;1.0;0.994	P;D;D;D;D	0.97110	0.75;0.967;0.981;1.0;0.981	D	0.91222	0.5007	10	0.87932	D	0	-12.6906	18.6119	0.91288	0.0:0.0:1.0:0.0	.	137;137;137;137;137	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	V	137	ENSP00000367203:G137V;ENSP00000437405:G137V;ENSP00000372355:G137V;ENSP00000443078:G137V	ENSP00000367203:G137V	G	+	2	0	KDM6A	44755175	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.225000	0.95219	2.338000	0.79540	0.506000	0.49869	GGT		0.299	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		6	6	1	0	5.18039e-06	0.00308	5.4173e-06	6	6		
WNK3	65267	broad.mit.edu	37	X	54265480	54265480	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:54265480G>A	ENST00000375159.2	-	17	3703	c.3704C>T	c.(3703-3705)gCt>gTt	p.A1235V	WNK3_ENST00000354646.2_Missense_Mutation_p.A1235V|WNK3_ENST00000375169.3_Missense_Mutation_p.A1235V			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1235					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCTTGACACAGCAGCAGGATA	0.428																																						uc004dtd.1		NaN																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(3703-3705)GCT>GTT		WNK lysine deficient protein kinase 3 isoform 2							59.0	56.0	57.0					X																	54265480		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54265480G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3704C>T	X.37:g.54265480G>A	ENSP00000364301:p.Ala1235Val					WNK3_uc004dtc.1_Missense_Mutation_p.A1235V	p.A1235V	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			18	4143	-			1235					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3704C>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494274	0.26774	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70869	-0.5;-0.52;-0.52	5.02	5.02	0.67125	.	0.125717	0.36066	N	0.002814	T	0.57344	0.2047	L	0.27053	0.805	0.23913	N	0.99649	P;P	0.42296	0.775;0.483	B;B	0.41412	0.356;0.162	T	0.52638	-0.8549	10	0.33141	T	0.24	-15.469	10.0439	0.42175	0.0976:0.0:0.9024:0.0	.	1235;1235	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	V	1235	ENSP00000364312:A1235V;ENSP00000346667:A1235V;ENSP00000364301:A1235V	ENSP00000346667:A1235V	A	-	2	0	WNK3	54282205	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.542000	0.60677	2.086000	0.62901	0.538000	0.68166	GCT		0.428	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2		NM_020922		3	17	0	0	0	0.004672	0	3	17		
ALAS2	212	broad.mit.edu	37	X	55050275	55050275	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:55050275G>A	ENST00000330807.5	-	4	467	c.330C>T	c.(328-330)gtC>gtT	p.V110V	ALAS2_ENST00000335854.4_Intron|ALAS2_ENST00000396198.3_Intron	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	110					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TCCTTAGGCTGACTGAGACCA	0.507																																						uc004dua.3		NaN																	0				ovary(1)	1						c.(328-330)GTC>GTT		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						85.0	68.0	74.0					X																	55050275		2203	4300	6503	SO:0001819	synonymous_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55050275G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.330C>T	X.37:g.55050275G>A						ALAS2_uc004dub.3_Intron|ALAS2_uc004dud.3_Intron	p.V110V	NM_000032	NP_000023	P22557	HEM0_HUMAN			4	468	-			110					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.330C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	g	0.021	-1.426910	0.01117	.	.	ENSG00000158578	ENST00000455688	.	.	.	4.15	3.28	0.37604	.	.	.	.	.	T	0.34861	0.0912	.	.	.	0.23401	N	0.997751	.	.	.	.	.	.	T	0.19844	-1.0293	4	.	.	.	-0.118	7.5565	0.27827	0.1291:0.0:0.8709:0.0	.	.	.	.	L	62	.	.	S	-	2	0	ALAS2	55067000	0.002000	0.14202	0.041000	0.18516	0.013000	0.08279	-0.369000	0.07533	0.847000	0.35167	0.528000	0.53228	TCA		0.507	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3		NM_000032		3	6	0	0	0	0.004672	0	3	6		
ACRC	93953	broad.mit.edu	37	X	70811992	70811992	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:70811992C>G	ENST00000373695.1	+	2	617	c.80C>G	c.(79-81)tCa>tGa	p.S27*	ACRC_ENST00000373696.3_Nonsense_Mutation_p.S27*			Q96QF7	ACRC_HUMAN	acidic repeat containing	27						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AATGTTCAGTCAAGCAGTGAT	0.383																																						uc004eae.2		NaN																	0				ovary(3)	3						c.(79-81)TCA>TGA		ACRC protein							204.0	163.0	177.0					X																	70811992		2203	4299	6502	SO:0001587	stop_gained	93953					nucleus		g.chrX:70811992C>G	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.80C>G	X.37:g.70811992C>G	ENSP00000362799:p.Ser27*					BCYRN1_uc011mpt.1_Intron	p.S27*	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			3	581	+	Renal(35;0.156)		27					B9EG62	Nonsense_Mutation	SNP	ENST00000373695.1	37	c.80C>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455538	0.96223	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	.	.	.	2.49	1.61	0.23674	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.4	0.11381	0.0:0.8001:0.0:0.1999	.	.	.	.	X	27	.	ENSP00000362799:S27X	S	+	2	0	ACRC	70728717	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.774000	0.26675	0.467000	0.27218	0.436000	0.28706	TCA		0.383	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1				15	16	0	0	0	0.00499	0	15	16		
FGF13	2258	broad.mit.edu	37	X	137790983	137790983	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:137790983A>T	ENST00000315930.6	-	2	956	c.295T>A	c.(295-297)Tac>Aac	p.Y99N	FGF13_ENST00000305414.4_Missense_Mutation_p.Y46N|FGF13_ENST00000370603.3_Missense_Mutation_p.Y109N|FGF13_ENST00000441825.2_Missense_Mutation_p.Y80N|FGF13_ENST00000541469.1_Missense_Mutation_p.Y53N|FGF13-AS1_ENST00000446383.1_RNA	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	99	Mediates interaction with sodium channels.				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)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CACTTACTGTAAGTGCTGTCC	0.383																																						uc004fam.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(295-297)TAC>AAC		fibroblast growth factor 13 isoform 1							187.0	166.0	173.0					X																	137790983		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137790983A>T	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	ENST00000315930.6:c.295T>A	X.37:g.137790983A>T	ENSP00000322390:p.Tyr99Asn					FGF13_uc004fan.2_Missense_Mutation_p.Y46N|FGF13_uc011mwi.1_Missense_Mutation_p.Y80N|FGF13_uc004faq.2_Missense_Mutation_p.Y109N|FGF13_uc004far.2_Missense_Mutation_p.Y80N|FGF13_uc011mwj.1_Missense_Mutation_p.Y109N|FGF13_uc011mwk.1_Missense_Mutation_p.Y53N	p.Y99N	NM_004114	NP_004105	Q92913	FGF13_HUMAN			2	957	-	Acute lymphoblastic leukemia(192;0.000127)		99					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.295T>A	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062225	0.36373	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.1	5.1	0.69264	.	0.432330	0.28098	N	0.016604	T	0.56485	0.1988	L	0.42487	1.325	0.45662	D	0.998581	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.002;0.003	T	0.53920	-0.8370	10	0.40728	T	0.16	.	9.4971	0.38995	0.8249:0.175:0.0:0.0	.	53;109;46;99	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	N	99;46;80;109;53;109;115	ENSP00000322390:Y99N;ENSP00000303391:Y46N;ENSP00000409276:Y80N;ENSP00000359635:Y109N;ENSP00000437903:Y53N;ENSP00000396198:Y109N;ENSP00000406916:Y115N	ENSP00000303391:Y46N	Y	-	1	0	FGF13	137618649	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.963000	0.76055	1.700000	0.51204	0.417000	0.27973	TAC		0.383	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2		NM_004114		31	50	0	0	0	0.012213	0	31	50		
CDR1	1038	broad.mit.edu	37	X	139866323	139866323	+	Missense_Mutation	SNP	G	G	A	rs267606368		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:139866323G>A	ENST00000370532.2	-	1	400	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	70	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CATAGCTTCCGAAAAATCCAG	0.453																																						uc004fbg.1		NaN																	0					0						c.(208-210)TCG>TTG		cerebellar degeneration-related protein 1,							82.0	80.0	81.0					X																	139866323		2203	4299	6502	SO:0001583	missense	1038							g.chrX:139866323G>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.209C>T	X.37:g.139866323G>A	ENSP00000359563:p.Ser70Leu					uc004fbf.1_RNA	p.S70L	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	401	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	70			23 X 6 AA approximate repeats.|12.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.209C>T	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570329	0.28003	.	.	ENSG00000184258	ENST00000370532	T	0.33216	1.42	3.55	-4.11	0.03928	.	.	.	.	.	T	0.08802	0.0218	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.31530	-0.9940	8	.	.	.	.	3.7068	0.08404	0.3433:0.0:0.3773:0.2794	.	70	P51861	CDR1_HUMAN	L	70	ENSP00000359563:S70L	.	S	-	2	0	CDR1	139693989	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.450000	0.06803	-0.834000	0.04239	0.468000	0.43344	TCG		0.453	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1		NM_004065		34	40	0	0	0	0.015359	0	34	40		
PRDM16	63976	broad.mit.edu	37	1	3160668	3160668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:3160668delG	ENST00000270722.5	+	3	454	c.405delG	c.(403-405)gtgfs	p.V135fs	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000442529.2_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000511072.1_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000378398.3_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000514189.1_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000441472.2_Frame_Shift_Del_p.V135fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	135	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGACGGACGTGGAAGTGTCGC	0.557			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NaN		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(403-405)GTGfs		PR domain containing 16 isoform 1							63.0	71.0	68.0					1																	3160668		2055	4213	6268	SO:0001589	frameshift_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3160668delG	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.405delG	1.37:g.3160668delG	ENSP00000270722:p.Val135fs					PRDM16_uc001akc.2_Frame_Shift_Del_p.V135fs|PRDM16_uc001akd.2_Frame_Shift_Del_p.V135fs|PRDM16_uc001ake.2_Frame_Shift_Del_p.V135fs|PRDM16_uc009vlh.2_5'UTR	p.V135fs	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	3	485	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	135			SET.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Frame_Shift_Del	DEL	ENST00000270722.5	37	c.405delG	CCDS41236.2																																																																																				0.557	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114		23	67	NaN	NaN	NaN	NaN	NaN	23	67	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						uc001gbv.2		NaN																	0				lung(2)|upper_aerodigestive_tract(1)	3						c.(901-903)CAGdel		nitric oxide synthase 1 (neuronal) adaptor																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del	p.Q306del	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1288_1290	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2		NM_014697		9	227	NaN	NaN	NaN	NaN	NaN	9	227	---	---
OR51I2	390064	broad.mit.edu	37	11	5475260	5475261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:5475260_5475261insC	ENST00000341449.2	+	1	623_624	c.542_543insC	c.(541-546)cacccafs	p.HP181fs	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	181					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGCCTGCACCCAGACATGA	0.46																																						uc010qzf.1		NaN																	0				ovary(2)|skin(2)	4						c.(541-543)CACfs		olfactory receptor, family 51, subfamily I,																																				SO:0001589	frameshift_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475260_5475261insC	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.545dupC	11.37:g.5475263_5475263dupC	ENSP00000341987:p.His181fs					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.H181fs	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	542_543	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	181			Extracellular (Potential).		Q6IF81	Frame_Shift_Ins	INS	ENST00000341449.2	37	c.542_543insC	CCDS31383.1																																																																																				0.460	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1		NM_001004754		34	41	NaN	NaN	NaN	NaN	NaN	34	41	---	---
PPP6R3	55291	broad.mit.edu	37	11	68331787	68331788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:68331787_68331788insA	ENST00000393800.2	+	9	1116_1117	c.862_863insA	c.(862-864)gagfs	p.E288fs	PPP6R3_ENST00000393799.2_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000265636.5_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000529710.1_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000524904.1_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000393801.3_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000527403.2_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000524845.1_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265637.4_Frame_Shift_Ins_p.E288fs	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	288					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGCCATATAGAGATCTGCCCA	0.376																																						uc001onw.2		NaN																	0					0						c.(862-864)GAGfs		SAPS domain family, member 3 isoform 6																																				SO:0001589	frameshift_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68331787_68331788insA	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.863dupA	11.37:g.68331788_68331788dupA	ENSP00000377389:p.Glu288fs					SAPS3_uc001onv.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc001ony.3_Frame_Shift_Ins_p.E288fs|SAPS3_uc001onx.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc009ysh.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc001onu.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_5'UTR	p.E288fs	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		9	1129_1130	+			288					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Frame_Shift_Ins	INS	ENST00000393800.2	37	c.862_863insA	CCDS53672.1																																																																																				0.376	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312		55	94	NaN	NaN	NaN	NaN	NaN	55	94	---	---
ZNF317	57693	broad.mit.edu	37	19	9272093	9272093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:9272093delG	ENST00000247956.6	+	7	2077	c.1772delG	c.(1771-1773)tggfs	p.W591fs	ZNF317_ENST00000360385.3_Frame_Shift_Del_p.W559fs	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	591					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(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TCATCCGTGTGGAAAAGGCTC	0.557																																						uc002mku.2		NaN																	0					0						c.(1771-1773)TGGfs		zinc finger protein 317							64.0	67.0	66.0					19																	9272093		2203	4300	6503	SO:0001589	frameshift_variant	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9272093delG	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1772delG	19.37:g.9272093delG	ENSP00000247956:p.Trp591fs					ZNF317_uc002mkv.2_Frame_Shift_Del_p.W450fs|ZNF317_uc002mkw.2_Frame_Shift_Del_p.W559fs|ZNF317_uc002mkx.2_Frame_Shift_Del_p.W506fs|ZNF317_uc002mky.2_Frame_Shift_Del_p.W474fs	p.W591fs	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			7	2047	+			591					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Frame_Shift_Del	DEL	ENST00000247956.6	37	c.1772delG	CCDS12210.1																																																																																				0.557	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1		NM_020933		17	28	NaN	NaN	NaN	NaN	NaN	17	28	---	---
SPATA2	9825	broad.mit.edu	37	20	48522186	48522187	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:48522186_48522187delGG	ENST00000422556.1	-	3	1881_1882	c.1532_1533delCC	c.(1531-1533)tccfs	p.S511fs	SPATA2_ENST00000289431.5_Frame_Shift_Del_p.S511fs|SPATA2_ENST00000543716.1_Frame_Shift_Del_p.S374fs	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	511					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGAGCTGGGTGGACTTGTAGTT	0.54																																						uc010gie.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1531-1533)TCCfs		spermatogenesis associated 2																																				SO:0001589	frameshift_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522186_48522187delGG	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.1532_1533delCC	20.37:g.48522186_48522187delGG	ENSP00000416799:p.Ser511fs					SPATA2_uc002xuw.2_Frame_Shift_Del_p.S511fs|SPATA2_uc010zyn.1_Frame_Shift_Del_p.S374fs	p.S511fs	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1882_1883	-	Hepatocellular(150;0.133)		511					E1P626|O94857	Frame_Shift_Del	DEL	ENST00000422556.1	37	c.1532_1533delCC	CCDS13422.1																																																																																				0.540	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1		NM_006038		10	100	NaN	NaN	NaN	NaN	NaN	10	100	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31884623	31884623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:31884623delG	ENST00000397525.1	-	2	305	c.82delC	c.(82-84)catfs	p.H28fs	EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.H28fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.H28fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.H28fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	28						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						GTATAGCGATGGGGGCATTTG	0.413																																						uc003akz.1		NaN																	0				ovary(1)	1						c.(82-84)CATfs		eukaryotic translation initiation factor 4E							127.0	112.0	117.0					22																	31884623		2203	4300	6503	SO:0001589	frameshift_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31884623delG	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.82delC	22.37:g.31884623delG	ENSP00000380659:p.His28fs					EIF4ENIF1_uc003ala.1_Frame_Shift_Del_p.H28fs|EIF4ENIF1_uc003alb.1_Frame_Shift_Del_p.H28fs|EIF4ENIF1_uc003alc.1_Frame_Shift_Del_p.H28fs	p.H28fs	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			2	246	-			28					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Frame_Shift_Del	DEL	ENST00000397525.1	37	c.82delC	CCDS13898.1																																																																																				0.413	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1		NM_019843		33	21	NaN	NaN	NaN	NaN	NaN	33	21	---	---
MROH5	389690	broad.mit.edu	37	8	142459777	142459778	+	RNA	INS	-	-	A	rs144781370|rs551918924	byFrequency	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:142459777_142459778insA	ENST00000430863.1	-	0	2629_2630				SNORD5_ENST00000458800.1_RNA	NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GCAGACAGGCCAGCAGTGTGGT	0.678													A|A|AA|insertion	278	0.0555112	0.1331	0.0403	5008	,	,		17224	0.0		0.0557	False		,,,				2504	0.0184					uc003ywi.2		NaN																	0					0						c.(2548-2550)CTGfs		hypothetical protein LOC389690				474,3476		80,314,1581						3.1	0.5		dbSNP_134	17	475,7371		49,377,3497	no	frameshift	FLJ43860	NM_207414.2		129,691,5078	A1A1,A1R,RR		6.054,12.0,8.0451				949,10847						389690						binding	g.chr8:142459777_142459778insA			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142459778_142459778dupA						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.L850fs	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		20	2630_2631	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		850						Frame_Shift_Ins	INS	ENST00000430863.1	37	c.2549_2550insT																																																																																					0.678	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4		NM_207414		8	2	NaN	NaN	NaN	NaN	NaN	8	2	---	---
MAP3K15	389840	broad.mit.edu	37	X	19390910	19390910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:19390910delC	ENST00000338883.4	-	22	2968	c.2969delG	c.(2968-2970)ggcfs	p.G990fs	MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.G425fs|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.G822fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	990							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CGAGGCCAAGCCCCGGTCTTC	0.612																																						uc004czk.1		NaN																	0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(1393-1395)GGCfs		mitogen-activated protein kinase kinase kinase							78.0	69.0	72.0					X																	19390910		2203	4300	6503	SO:0001589	frameshift_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19390910delC	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2969delG	X.37:g.19390910delC	ENSP00000345629:p.Gly990fs					MAP3K15_uc004czj.1_Frame_Shift_Del_p.G425fs|MAP3K15_uc004czi.1_5'UTR	p.G465fs	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			23	3031	-	Hepatocellular(33;0.183)		990					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Del	DEL	ENST00000338883.4	37	c.1394delG																																																																																					0.612	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001671		20	37	NaN	NaN	NaN	NaN	NaN	20	37	---	---
