#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
TNFRSF4	7293	broad.mit.edu	37	1	1149375	1149375	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:1149375C>T	ENST00000379236.3	-	1	137	c.133G>A	c.(133-135)Gag>Aag	p.E45K	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	45					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCCTGCACTCGTGGCAGCAC	0.721																																						uc001ade.2		NaN																	0					0						c.(133-135)GAG>AAG		tumor necrosis factor receptor superfamily,							20.0	20.0	20.0					1																	1149375		2194	4290	6484	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1149375C>T	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.133G>A	1.37:g.1149375C>T	ENSP00000368538:p.Glu45Lys					TNFRSF4_uc001adf.2_5'UTR	p.E45K	NM_003327	NP_003318	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	138	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	45			Extracellular (Potential).|TNFR-Cys 1.		Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.133G>A	CCDS11.1	.	.	.	.	.	.	.	.	.	.	C	5.785	0.329265	0.10956	.	.	ENSG00000186827	ENST00000379236	D	0.90563	-2.69	3.49	3.49	0.39957	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.407287	0.21742	N	0.069806	D	0.86155	0.5865	L	0.50333	1.59	0.09310	N	1	D	0.56968	0.978	P	0.46796	0.527	T	0.77616	-0.2521	10	0.02654	T	1	-20.6129	10.663	0.45712	0.0:1.0:0.0:0.0	.	45	P43489	TNR4_HUMAN	K	45	ENSP00000368538:E45K	ENSP00000368538:E45K	E	-	1	0	TNFRSF4	1139238	0.307000	0.24500	0.270000	0.24601	0.016000	0.09150	2.673000	0.46858	1.972000	0.57404	0.491000	0.48974	GAG		0.721	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1				3	5	0	0	0	0.004672	0	3	5		
CASZ1	54897	broad.mit.edu	37	1	10713996	10713996	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:10713996C>T	ENST00000377022.3	-	11	2435	c.2118G>A	c.(2116-2118)ccG>ccA	p.P706P	CASZ1_ENST00000344008.5_Silent_p.P706P|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	706					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCAGCGAGGGCGGCAGCCCCA	0.667																																						uc001aro.2		NaN																	0				skin(1)	1						c.(2116-2118)CCG>CCA		castor homolog 1, zinc finger isoform a							47.0	49.0	48.0					1																	10713996		2202	4300	6502	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713996C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2118G>A	1.37:g.10713996C>T						CASZ1_uc001arp.1_Silent_p.P706P|CASZ1_uc009vmx.2_Silent_p.P730P	p.P706P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2438	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	706					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.2118G>A	CCDS41246.1																																																																																				0.667	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766		17	49	0	0	0	0.028581	0	17	49		
DNAJC16	23341	broad.mit.edu	37	1	15860766	15860766	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15860766G>A	ENST00000375847.3	+	3	366	c.202G>A	c.(202-204)Gac>Aac	p.D68N	DNAJC16_ENST00000375838.1_Missense_Mutation_p.D68N|DNAJC16_ENST00000375849.1_Missense_Mutation_p.D68N	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	68	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGGAGCAGAAGACAAGTTCAT	0.413																																						uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(202-204)GAC>AAC		DnaJ (Hsp40) homolog, subfamily C, member 16							128.0	111.0	117.0					1																	15860766		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15860766G>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.202G>A	1.37:g.15860766G>A	ENSP00000365007:p.Asp68Asn					DNAJC16_uc001awr.1_Missense_Mutation_p.D68N|DNAJC16_uc001awt.2_5'UTR	p.D68N	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	3	322	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	68			Cytoplasmic (Potential).|J.		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.202G>A	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222653	0.95139	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.73575	-0.76;-0.76;-0.76	6.07	5.16	0.70880	Heat shock protein DnaJ, N-terminal (5);	0.092514	0.64402	D	0.000001	T	0.74253	0.3692	N	0.25031	0.7	0.29541	N	0.852109	D;D	0.59767	0.982;0.986	P;P	0.62184	0.864;0.899	T	0.71810	-0.4480	10	0.52906	T	0.07	-38.7434	11.195	0.48707	0.0836:0.0:0.9164:0.0	.	68;68	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	N	68	ENSP00000365007:D68N;ENSP00000364998:D68N;ENSP00000365009:D68N	ENSP00000364998:D68N	D	+	1	0	DNAJC16	15733353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.383000	0.90157	1.582000	0.49881	0.585000	0.79938	GAC		0.413	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		48	46	0	0	0	0.048971	0	48	46		
DNAJC16	23341	broad.mit.edu	37	1	15863024	15863024	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15863024G>C	ENST00000375847.3	+	4	453	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	DNAJC16_ENST00000375849.1_Missense_Mutation_p.E97Q|DNAJC16_ENST00000375838.1_Missense_Mutation_p.E97Q	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	97					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGACGCTGGAGAGAACCAGGG	0.363																																						uc001aws.2		NaN																	0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(289-291)GAG>CAG		DnaJ (Hsp40) homolog, subfamily C, member 16							59.0	64.0	63.0					1																	15863024		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15863024G>C	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.289G>C	1.37:g.15863024G>C	ENSP00000365007:p.Glu97Gln					DNAJC16_uc001awr.1_Missense_Mutation_p.E97Q|DNAJC16_uc001awt.2_5'UTR	p.E97Q	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	4	409	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	97			Cytoplasmic (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.289G>C	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332057	0.81801	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.72282	-0.63;-0.63;-0.64	5.92	5.01	0.66863	Heat shock protein DnaJ, N-terminal (2);	0.094028	0.64402	D	0.000001	T	0.68696	0.3029	L	0.29908	0.895	0.29716	N	0.839056	D;D	0.63880	0.993;0.993	P;P	0.56343	0.796;0.796	T	0.63134	-0.6705	10	0.12766	T	0.61	-22.6773	14.0391	0.64663	0.0731:0.0:0.9269:0.0	.	97;97	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	Q	97	ENSP00000365007:E97Q;ENSP00000364998:E97Q;ENSP00000365009:E97Q	ENSP00000364998:E97Q	E	+	1	0	DNAJC16	15735611	1.000000	0.71417	0.871000	0.34182	0.901000	0.52897	8.514000	0.90545	1.513000	0.48852	0.655000	0.94253	GAG		0.363	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291		31	29	0	0	0	0.037714	0	31	29		
RSC1A1	6248	broad.mit.edu	37	1	15986519	15986519	+	Silent	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15986519T>C	ENST00000345034.1	+	1	156	c.156T>C	c.(154-156)gcT>gcC	p.A52A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	52					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACCTAAAGCTGTGAAGGCTT	0.448																																						uc010obn.1		NaN																	0				ovary(1)	1						c.(154-156)GCT>GCC		regulatory solute carrier protein, family 1,							154.0	160.0	158.0					1																	15986519		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986519T>C	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.156T>C	1.37:g.15986519T>C						DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	p.A52A	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	156	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	52					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.156T>C	CCDS161.1																																																																																				0.448	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1		NM_006511		154	179	0	0	0	0.048971	0	154	179		
ARHGEF10L	55160	broad.mit.edu	37	1	17942675	17942675	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:17942675C>T	ENST00000361221.3	+	9	972	c.813C>T	c.(811-813)ttC>ttT	p.F271F	ARHGEF10L_ENST00000375420.3_Silent_p.F29F|ARHGEF10L_ENST00000434513.1_Silent_p.F271F|ARHGEF10L_ENST00000375408.3_5'Flank|ARHGEF10L_ENST00000452522.1_Silent_p.F232F|ARHGEF10L_ENST00000167825.4_5'Flank|ARHGEF10L_ENST00000375415.1_Silent_p.F232F|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	271						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGTCTCCTTCCTGCACAGGA	0.622																																						uc001ban.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(811-813)TTC>TTT		Rho guanine nucleotide exchange factor (GEF)							102.0	86.0	92.0					1																	17942675		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17942675C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.813C>T	1.37:g.17942675C>T						ARHGEF10L_uc009vpe.1_Silent_p.F232F|ARHGEF10L_uc001bao.2_Silent_p.F232F|ARHGEF10L_uc001bap.2_Silent_p.F232F|ARHGEF10L_uc010ocr.1_Silent_p.F29F|ARHGEF10L_uc001baq.2_Silent_p.F37F|ARHGEF10L_uc010ocs.1_5'Flank|ARHGEF10L_uc001bar.2_5'Flank	p.F271F	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	9	972	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	271					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.813C>T	CCDS182.1																																																																																				0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1		NM_018125		33	71	0	0	0	0.054565	0	33	71		
LUZP1	7798	broad.mit.edu	37	1	23418794	23418794	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23418794C>G	ENST00000302291.4	-	4	2762	c.1961G>C	c.(1960-1962)aGa>aCa	p.R654T	LUZP1_ENST00000418342.1_Missense_Mutation_p.R654T|LUZP1_ENST00000374623.3_Missense_Mutation_p.R654T|LUZP1_ENST00000314174.5_Missense_Mutation_p.R654T			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	654					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGCTTCTCTCTGCCACTGGA	0.483																																						uc001bgk.2		NaN																	0					0						c.(1960-1962)AGA>ACA		leucine zipper protein 1							174.0	163.0	166.0					1																	23418794		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418794C>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1961G>C	1.37:g.23418794C>G	ENSP00000303758:p.Arg654Thr					LUZP1_uc010odv.1_Missense_Mutation_p.R654T|LUZP1_uc001bgl.2_Missense_Mutation_p.R654T|LUZP1_uc001bgm.1_Missense_Mutation_p.R654T	p.R654T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2345	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	654					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1961G>C	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274187	0.40194	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15256	2.65;2.65;2.65;2.44	5.62	3.68	0.42216	.	0.243111	0.29335	N	0.012448	T	0.18215	0.0437	M	0.62723	1.935	0.24518	N	0.994173	P;P	0.46512	0.493;0.879	B;B	0.41988	0.206;0.372	T	0.09058	-1.0692	10	0.35671	T	0.21	.	8.71	0.34378	0.0:0.73:0.0:0.27	.	654;654	Q86V48-2;Q86V48	.;LUZP1_HUMAN	T	654	ENSP00000393460:R654T;ENSP00000363752:R654T;ENSP00000303758:R654T;ENSP00000313705:R654T	ENSP00000303758:R654T	R	-	2	0	LUZP1	23291381	0.964000	0.33143	1.000000	0.80357	0.987000	0.75469	1.765000	0.38481	0.669000	0.31146	-0.355000	0.07637	AGA		0.483	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631		79	166	0	0	0	0.048971	0	79	166		
LUZP1	7798	broad.mit.edu	37	1	23418882	23418882	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23418882C>T	ENST00000302291.4	-	4	2674	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	LUZP1_ENST00000418342.1_Missense_Mutation_p.E625K|LUZP1_ENST00000374623.3_Missense_Mutation_p.E625K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E625K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	625					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.E625Q(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTAACCCCTTCTTTATGTGAG	0.468																																						uc001bgk.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1873-1875)GAA>AAA		leucine zipper protein 1							176.0	176.0	176.0					1																	23418882		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418882C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1873G>A	1.37:g.23418882C>T	ENSP00000303758:p.Glu625Lys					LUZP1_uc010odv.1_Missense_Mutation_p.E625K|LUZP1_uc001bgl.2_Missense_Mutation_p.E625K|LUZP1_uc001bgm.1_Missense_Mutation_p.E625K	p.E625K	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2257	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	625					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1873G>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919045	0.52546	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.22336	2.15;2.15;2.15;1.96	5.74	5.74	0.90152	.	0.000000	0.46442	D	0.000281	T	0.24624	0.0597	L	0.46157	1.445	0.29944	N	0.820808	B;B	0.29590	0.25;0.25	B;B	0.31495	0.051;0.131	T	0.06807	-1.0806	10	0.39692	T	0.17	.	18.961	0.92678	0.0:1.0:0.0:0.0	.	625;625	Q86V48-2;Q86V48	.;LUZP1_HUMAN	K	625	ENSP00000393460:E625K;ENSP00000363752:E625K;ENSP00000303758:E625K;ENSP00000313705:E625K	ENSP00000303758:E625K	E	-	1	0	LUZP1	23291469	1.000000	0.71417	0.891000	0.34965	0.300000	0.27592	4.180000	0.58296	2.717000	0.92951	0.650000	0.86243	GAA		0.468	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631		80	160	0	0	0	0.048971	0	80	160		
LUZP1	7798	broad.mit.edu	37	1	23419929	23419929	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23419929C>T	ENST00000302291.4	-	4	1627	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	LUZP1_ENST00000418342.1_Missense_Mutation_p.E276K|LUZP1_ENST00000374623.3_Missense_Mutation_p.E276K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E276K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	276					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTTTCATTTTCTGATTTGTTT	0.403																																						uc001bgk.2		NaN																	0					0						c.(826-828)GAA>AAA		leucine zipper protein 1							198.0	186.0	190.0					1																	23419929		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419929C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.826G>A	1.37:g.23419929C>T	ENSP00000303758:p.Glu276Lys					LUZP1_uc010odv.1_Missense_Mutation_p.E276K|LUZP1_uc001bgl.2_Missense_Mutation_p.E276K|LUZP1_uc001bgm.1_Missense_Mutation_p.E276K	p.E276K	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1210	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	276			Potential.		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.826G>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353500	0.82243	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15139	2.66;2.66;2.66;2.45	5.88	5.88	0.94601	.	0.000000	0.49916	D	0.000136	T	0.29588	0.0738	L	0.31664	0.95	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.02081	-1.1217	10	0.10111	T	0.7	.	19.211	0.93755	0.0:1.0:0.0:0.0	.	276;276	Q86V48-2;Q86V48	.;LUZP1_HUMAN	K	276	ENSP00000393460:E276K;ENSP00000363752:E276K;ENSP00000303758:E276K;ENSP00000313705:E276K	ENSP00000303758:E276K	E	-	1	0	LUZP1	23292516	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	5.646000	0.67916	2.789000	0.95967	0.655000	0.94253	GAA		0.403	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631		7	74	0	0	0	0.045705	0	7	74		
GPN2	54707	broad.mit.edu	37	1	27212601	27212601	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:27212601C>G	ENST00000374135.4	-	3	792	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	GPN2_ENST00000461282.1_5'UTR|GPN2_ENST00000374133.3_Missense_Mutation_p.E19Q	NM_018066.3	NP_060536.3			GPN-loop GTPase 2									p.E198*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TCCAGAACCTCTGTGTAGTAG	0.502																																						uc001bnd.1		NaN																	1	Substitution - Nonsense(1)		lung(1)		0						c.(592-594)GAG>CAG		ATP binding domain 1 family, member B							94.0	74.0	81.0					1																	27212601		2203	4300	6503	SO:0001583	missense	54707						GTP binding	g.chr1:27212601C>G	AK001211	CCDS289.1	1p36.11	2008-04-30	2008-04-30	2008-04-30	ENSG00000142751	ENSG00000142751		"""GPN-loop GTPases"""	25513	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member B"""	ATPBD1B		12975309	Standard	NM_018066		Approved	FLJ10349	uc001bnd.1	Q9H9Y4	OTTHUMG00000004227	ENST00000374135.4:c.592G>C	1.37:g.27212601C>G	ENSP00000363250:p.Glu198Gln						p.E198Q	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN			3	874	-			198						Missense_Mutation	SNP	ENST00000374135.4	37	c.592G>C	CCDS289.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518090	0.85495	.	.	ENSG00000142751	ENST00000374135;ENST00000374133;ENST00000374131;ENST00000431781	T;T	0.28255	1.62;1.62	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	M	0.72894	2.215	0.80722	D	1	P	0.42649	0.786	P	0.51297	0.665	T	0.52208	-0.8606	10	0.72032	D	0.01	.	19.1059	0.93294	0.0:1.0:0.0:0.0	.	198	Q9H9Y4	GPN2_HUMAN	Q	198;19;127;127	ENSP00000363250:E198Q;ENSP00000363248:E19Q	ENSP00000363246:E127Q	E	-	1	0	GPN2	27085188	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.426000	0.80270	2.499000	0.84300	0.591000	0.81541	GAG		0.502	GPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012175.2		NM_018066		15	38	0	0	0	0.020292	0	15	38		
TMEM54	113452	broad.mit.edu	37	1	33363847	33363847	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:33363847C>G	ENST00000373463.3	-	2	209	c.90G>C	c.(88-90)gtG>gtC	p.V30V	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.V30V	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	30						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGATGAAGCTCACATGGCCCA	0.612																																						uc001bwi.1		NaN																	0					0						c.(88-90)GTG>GTC		transmembrane protein 54							129.0	102.0	111.0					1																	33363847		2203	4300	6503	SO:0001819	synonymous_variant	113452					integral to membrane		g.chr1:33363847C>G		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.90G>C	1.37:g.33363847C>G						TMEM54_uc001bwj.1_Silent_p.V30V|TMEM54_uc001bwk.1_Silent_p.V30V	p.V30V	NM_033504	NP_277039	Q969K7	TMM54_HUMAN			2	204	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	30			Helical; (Potential).		Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	ENST00000373463.3	37	c.90G>C	CCDS371.1																																																																																				0.612	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1		NM_033504		23	64	0	0	0	0.076483	0	23	64		
TMEM54	113452	broad.mit.edu	37	1	33363913	33363913	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:33363913C>T	ENST00000373463.3	-	2	143	c.24G>A	c.(22-24)ctG>ctA	p.L8L	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.L8L	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	8						integral component of membrane (GO:0016021)		p.L8L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGCCCACACTCAGGCCTCCTG	0.617																																						uc001bwi.1		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CTG>CTA		transmembrane protein 54							60.0	56.0	58.0					1																	33363913		2203	4300	6503	SO:0001819	synonymous_variant	113452					integral to membrane		g.chr1:33363913C>T		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.24G>A	1.37:g.33363913C>T						TMEM54_uc001bwj.1_Silent_p.L8L|TMEM54_uc001bwk.1_Silent_p.L8L	p.L8L	NM_033504	NP_277039	Q969K7	TMM54_HUMAN			2	138	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	8					Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	ENST00000373463.3	37	c.24G>A	CCDS371.1																																																																																				0.617	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1		NM_033504		12	43	0	0	0	0.105934	0	12	43		
CD58	965	broad.mit.edu	37	1	117078651	117078651	+	Silent	SNP	A	A	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:117078651A>T	ENST00000369489.5	-	3	630	c.564T>A	c.(562-564)acT>acA	p.T188T	CD58_ENST00000457047.2_Silent_p.T188T|CD58_ENST00000369487.3_Silent_p.T188T	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	188					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GATTGCTAAGAGTACACTGTA	0.343																																						uc001egm.2		NaN																	0					0						c.(562-564)ACT>ACA		CD58 molecule isoform 1							134.0	129.0	131.0					1																	117078651		2203	4300	6503	SO:0001819	synonymous_variant	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078651A>T	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.564T>A	1.37:g.117078651A>T						CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.T188T|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.T188T	p.T188T	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	685	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	188			Extracellular (Potential).|Ig-like C2-type.		A8K7G5|Q5U053|Q6IB65|Q96KI9	Silent	SNP	ENST00000369489.5	37	c.564T>A	CCDS888.1																																																																																				0.343	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1		NM_001779		5	118	0	0	0	0.014758	0	5	118		
CHD1L	9557	broad.mit.edu	37	1	146747112	146747112	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:146747112C>A	ENST00000369258.4	+	13	1386	c.1366C>A	c.(1366-1368)Cat>Aat	p.H456N	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.H362N|CHD1L_ENST00000361293.5_Missense_Mutation_p.H175N|CHD1L_ENST00000369259.3_Missense_Mutation_p.H252N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	456	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGCCAGGGCTCATCGCATTGG	0.443																																						uc001epm.3		NaN																	0				ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(1366-1368)CAT>AAT		chromodomain helicase DNA binding protein							149.0	145.0	147.0					1																	146747112		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146747112C>A	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1366C>A	1.37:g.146747112C>A	ENSP00000358262:p.His456Asn					uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.H343N|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.H362N|CHD1L_uc010ozp.1_Missense_Mutation_p.H175N|CHD1L_uc001epo.3_Missense_Mutation_p.H252N|CHD1L_uc010ozq.1_Missense_Mutation_p.H29N|CHD1L_uc009wji.2_Missense_Mutation_p.H175N	p.H456N	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			13	1429	+	all_hematologic(923;0.0487)		456			Helicase C-terminal.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.1366C>A	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820190	0.90873	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000436230;ENST00000361293	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.97	5.97	0.96955	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94012	0.7285	10	0.87932	D	0	.	17.9218	0.88969	0.0:1.0:0.0:0.0	.	362;252;456	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	N	362;252;456;356;175	ENSP00000389031:H362N;ENSP00000358263:H252N;ENSP00000358262:H456N;ENSP00000355100:H175N	ENSP00000355100:H175N	H	+	1	0	CHD1L	145213736	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.275000	0.78548	2.837000	0.97791	0.655000	0.94253	CAT		0.443	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1		NM_004284		69	72	1	0	2.02796e-37	0.048971	2.19171e-37	69	72		
MTMR11	10903	broad.mit.edu	37	1	149903264	149903264	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:149903264G>A	ENST00000439741.2	-	13	1428	c.1178C>T	c.(1177-1179)tCa>tTa	p.S393L	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.S321L|MTMR11_ENST00000406732.3_Intron|MTMR11_ENST00000492824.1_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	393	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTCGGGGGCTGAAAGCAGCTG	0.562																																						uc001etl.3		NaN																	0				central_nervous_system(1)	1						c.(1177-1179)TCA>TTA		myotubularin related protein 11 isoform a							71.0	67.0	69.0					1																	149903264		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149903264G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1178C>T	1.37:g.149903264G>A	ENSP00000391668:p.Ser393Leu					MTMR11_uc001etm.1_Missense_Mutation_p.S321L|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Silent_p.F219F	p.S393L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		13	1429	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		393			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1178C>T	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	G	4.058	0.008475	0.07912	.	.	ENSG00000014914	ENST00000369140;ENST00000439741	D;D	0.88664	-2.41;-2.41	6.17	3.95	0.45737	Myotubularin phosphatase domain (1);	0.361413	0.29403	N	0.012257	T	0.44644	0.1303	N	0.01505	-0.83	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12156	0.004;0.007	T	0.51694	-0.8673	10	0.02654	T	1	.	6.6149	0.22771	0.1942:0.1391:0.6667:0.0	.	321;393	A4FU01-4;A4FU01	.;MTMRB_HUMAN	L	321;393	ENSP00000358136:S321L;ENSP00000391668:S393L	ENSP00000358136:S321L	S	-	2	0	MTMR11	148169888	0.991000	0.36638	0.995000	0.50966	0.932000	0.56968	2.006000	0.40874	0.673000	0.31224	0.655000	0.94253	TCA		0.562	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_181873		41	66	0	0	0	0.09836	0	41	66		
PI4KB	5298	broad.mit.edu	37	1	151262304	151262304	+	IGR	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:151262304G>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.E929K			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCAGAAGAGGAGGAAGTACC	0.657																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2785-2787)GAG>AAG		zinc finger protein 687							22.0	25.0	24.0					1																	151262304		2186	4278	6464	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262304G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262304G>A						ZNF687_uc009wmo.2_Missense_Mutation_p.E929K|ZNF687_uc009wmp.2_Missense_Mutation_p.E929K	p.E929K	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	2883	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		929			Poly-Glu.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.2785G>A		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278526	0.59758	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00932	5.53;5.53;5.87	4.79	4.79	0.61399	.	0.215990	0.22990	N	0.053204	T	0.00998	0.0033	N	0.24115	0.695	0.36742	D	0.882269	D;B	0.64830	0.994;0.008	P;B	0.60789	0.879;0.006	T	0.78841	-0.2045	10	0.38643	T	0.18	.	13.1893	0.59700	0.0:0.0:1.0:0.0	.	929;929	Q8N1G0-2;Q8N1G0	.;ZN687_HUMAN	K	929	ENSP00000336620:E929K;ENSP00000319829:E929K;ENSP00000357874:E929K	ENSP00000319829:E929K	E	+	1	0	ZNF687	149528928	1.000000	0.71417	0.993000	0.49108	0.953000	0.61014	4.821000	0.62679	2.493000	0.84123	0.462000	0.41574	GAG		0.657	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		6	3	0	0	0	0.02938	0	6	3		
SMG5	23381	broad.mit.edu	37	1	156242175	156242175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:156242175G>A	ENST00000361813.5	-	7	793	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	SMG5_ENST00000368267.5_Nonsense_Mutation_p.Q217*	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	217					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GTGCCCAGCTGATTGAAGGGC	0.493																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(649-651)CAG>TAG		SMG5 homolog nonsense mediated mRNA decay							56.0	49.0	52.0					1																	156242175		2202	4300	6502	SO:0001587	stop_gained	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156242175G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.649C>T	1.37:g.156242175G>A	ENSP00000355261:p.Gln217*						p.Q217*	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			7	798	-	Hepatocellular(266;0.158)		217					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Nonsense_Mutation	SNP	ENST00000361813.5	37	c.649C>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	G	37	6.196720	0.97367	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8834	18.8766	0.92338	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000355261:Q217X	Q	-	1	0	SMG5	154508799	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	9.748000	0.98867	2.793000	0.96121	0.655000	0.94253	CAG		0.493	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		5	20	0	0	0	0.021553	0	5	20		
SMG5	23381	broad.mit.edu	37	1	156243158	156243158	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:156243158G>C	ENST00000361813.5	-	6	772	c.628C>G	c.(628-630)Cag>Gag	p.Q210E	SMG5_ENST00000368267.5_Missense_Mutation_p.Q210E	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	210					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTACCAATCTGAGGAGCTACT	0.478																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(628-630)CAG>GAG		SMG5 homolog nonsense mediated mRNA decay							86.0	84.0	84.0					1																	156243158		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156243158G>C	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.628C>G	1.37:g.156243158G>C	ENSP00000355261:p.Gln210Glu						p.Q210E	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			6	777	-	Hepatocellular(266;0.158)		210					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.628C>G	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952562	0.18431	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.16073	2.37;2.37	5.65	5.65	0.86999	.	0.055231	0.85682	D	0.000000	T	0.02230	0.0069	N	0.01874	-0.695	0.39601	D	0.969737	B	0.11235	0.004	B	0.20384	0.029	T	0.40346	-0.9568	10	0.06891	T	0.86	-14.064	13.4169	0.60974	0.0:0.0:0.8431:0.1569	.	210	Q9UPR3	SMG5_HUMAN	E	210	ENSP00000355261:Q210E;ENSP00000357250:Q210E	ENSP00000355261:Q210E	Q	-	1	0	SMG5	154509782	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.145000	0.64839	2.941000	0.99782	0.655000	0.94253	CAG		0.478	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		23	54	0	0	0	0.0918	0	23	54		
HMCN1	83872	broad.mit.edu	37	1	186106714	186106714	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:186106714G>A	ENST00000271588.4	+	88	13896	c.13667G>A	c.(13666-13668)tGc>tAc	p.C4556Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.C4556Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4556	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTCGTCTGTGCAACCAGCCC	0.488																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(13666-13668)TGC>TAC		hemicentin 1 precursor							68.0	69.0	68.0					1																	186106714		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106714G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13667G>A	1.37:g.186106714G>A	ENSP00000271588:p.Cys4556Tyr					HMCN1_uc001grs.1_Missense_Mutation_p.C125Y	p.C4556Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			88	13896	+			4556			TSP type-1 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13667G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198635	0.79015	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.69040	-0.37;-0.37	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90068	0.4161	10	0.54805	T	0.06	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	4556	Q96RW7	HMCN1_HUMAN	Y	4556	ENSP00000271588:C4556Y;ENSP00000356462:C4556Y	ENSP00000271588:C4556Y	C	+	2	0	HMCN1	184373337	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	9.414000	0.97362	2.729000	0.93468	0.650000	0.86243	TGC		0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		29	37	0	0	0	0.037714	0	29	37		
TRAF3IP3	80342	broad.mit.edu	37	1	209933433	209933433	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:209933433G>A	ENST00000367024.1	+	3	565	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E17K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E17K|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E17K|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E17K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	17						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCGGTGGGCTGAGAGCTATGA	0.622																																						uc001hho.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(49-51)GAG>AAG		TRAF3-interacting JNK-activating modulator							28.0	27.0	27.0					1																	209933433		2203	4299	6502	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933433G>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.49G>A	1.37:g.209933433G>A	ENSP00000355991:p.Glu17Lys					TRAF3IP3_uc001hhl.2_Missense_Mutation_p.E17K|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.E17K|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.E17K|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.E17K	p.E17K	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	339	+			17			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.49G>A	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	32	5.177894	0.94846	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000479796;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.69806	-0.43;-0.05;-0.29;-0.05;-0.29	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.80325	0.4602	M	0.67953	2.075	0.42409	D	0.992594	D;D;D;D	0.76494	0.996;0.999;0.998;0.996	D;D;D;D	0.83275	0.99;0.996;0.994;0.99	T	0.81856	-0.0740	10	0.72032	D	0.01	-20.6215	15.2561	0.73585	0.0:0.0:1.0:0.0	.	17;17;17;17	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	K	17	ENSP00000383743:E17K;ENSP00000355992:E17K;ENSP00000355993:E17K;ENSP00000355991:E17K;ENSP00000010338:E17K	ENSP00000010338:E17K	E	+	1	0	TRAF3IP3	208000056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.004000	0.63966	2.665000	0.90641	0.655000	0.94253	GAG		0.622	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2				17	33	0	0	0	0.038395	0	17	33		
ZP4	57829	broad.mit.edu	37	1	238053473	238053473	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:238053473T>G	ENST00000366570.4	-	2	337	c.179A>C	c.(178-180)aAc>aCc	p.N60T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	60					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGCCCTTGGTTGTCTGGAGG	0.562																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NaN																	0				ovary(2)|skin(1)	3						c.(178-180)AAC>ACC		zona pellucida glycoprotein 4 preproprotein							70.0	66.0	67.0					1																	238053473		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053473T>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.179A>C	1.37:g.238053473T>G	ENSP00000355529:p.Asn60Thr					LOC100130331_uc010pyc.1_Intron	p.N60T	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	179	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	60			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.179A>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	T	5.068	0.198155	0.09652	.	.	ENSG00000116996	ENST00000366570	T	0.73789	-0.78	5.07	-1.84	0.07809	.	1.332340	0.05119	N	0.490318	T	0.62332	0.2419	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	10	0.12103	T	0.63	-0.5716	4.4424	0.11580	0.0:0.2852:0.3278:0.387	.	60	Q12836	ZP4_HUMAN	T	60	ENSP00000355529:N60T	ENSP00000355529:N60T	N	-	2	0	ZP4	236120096	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.149000	0.10204	-0.251000	0.09542	-0.994000	0.02522	AAC		0.562	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1				53	56	0	0	0	0.048971	0	53	56		
WDR64	128025	broad.mit.edu	37	1	241951205	241951205	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:241951205C>G	ENST00000366552.2	+	23	2937	c.2730C>G	c.(2728-2730)ctC>ctG	p.L910L	WDR64_ENST00000437684.2_Silent_p.L743L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	910										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGCGAAGGCTCTTTGAATTAT	0.383																																						uc001hzf.1		NaN																	0				skin(1)	1						c.(1387-1389)CTC>CTG		WD repeat domain 64							163.0	159.0	160.0					1																	241951205		2203	4300	6503	SO:0001819	synonymous_variant	128025							g.chr1:241951205C>G	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2730C>G	1.37:g.241951205C>G						WDR64_uc001hzg.1_Silent_p.L376L	p.L463L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		13	1542	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	910					B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37	c.1389C>G		.	.	.	.	.	.	.	.	.	.	C	0.023	-1.403916	0.01165	.	.	ENSG00000162843	ENST00000425826	.	.	.	5.96	-0.048	0.13840	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.24021	N	0.99615	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	6.9485	3.6671	0.08260	0.289:0.2289:0.3988:0.0833	.	.	.	.	C	389	.	.	S	+	2	0	WDR64	240017828	0.008000	0.16893	0.099000	0.21106	0.073000	0.16967	-0.134000	0.10436	0.065000	0.16485	0.643000	0.83706	TCT		0.383	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_144625		77	105	0	0	0	0.048971	0	77	105		
WAC	51322	broad.mit.edu	37	10	28903604	28903604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr10:28903604C>T	ENST00000354911.4	+	11	1707	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	WAC_ENST00000375664.4_Nonsense_Mutation_p.Q471*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q364*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q413*	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	516					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCGAAGTCTTCAGCGCTCAAG	0.408																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1546-1548)CAG>TAG		WW domain-containing adapter with a coiled-coil							126.0	109.0	115.0					10																	28903604		2203	4300	6503	SO:0001587	stop_gained	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28903604C>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1546C>T	10.37:g.28903604C>T	ENSP00000346986:p.Gln516*					WAC_uc001iud.2_Nonsense_Mutation_p.Q471*|WAC_uc001iue.2_Nonsense_Mutation_p.Q206*|WAC_uc001iug.2_Nonsense_Mutation_p.Q413*|WAC_uc001iuh.2_Nonsense_Mutation_p.Q468*	p.Q516*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			11	1631	+			516					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Nonsense_Mutation	SNP	ENST00000354911.4	37	c.1546C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	41	9.069776	0.99055	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.6315	19.0728	0.93147	0.0:1.0:0.0:0.0	.	.	.	.	X	471;364;413;516	.	ENSP00000311106:Q413X	Q	+	1	0	WAC	28943610	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.796000	0.75145	2.508000	0.84585	0.557000	0.71058	CAG		0.408	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		26	53	0	0	0	0.034045	0	26	53		
HPS6	79803	broad.mit.edu	37	10	103825676	103825676	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr10:103825676G>A	ENST00000299238.5	+	1	530	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	149					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGCCCGGGCCGAGGGCCCGTC	0.736									Hermansky-Pudlak syndrome																													uc001kuj.2		NaN																	0					0						c.(445-447)GAG>AAG		Hermansky-Pudlak syndrome-6							3.0	3.0	3.0					10																	103825676		1642	3452	5094	SO:0001583	missense	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103825676G>A	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.445G>A	10.37:g.103825676G>A	ENSP00000299238:p.Glu149Lys						p.E149K	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	530	+		Colorectal(252;0.122)	149					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.445G>A	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	6.682	0.494381	0.12702	.	.	ENSG00000166189	ENST00000299238	T	0.00525	6.81	4.68	1.78	0.24846	.	0.416388	0.26773	N	0.022575	T	0.00356	0.0011	L	0.31294	0.92	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.39961	-0.9588	10	0.09338	T	0.73	-0.4687	10.3083	0.43693	0.2198:0.0:0.7802:0.0	.	149	Q86YV9	HPS6_HUMAN	K	149	ENSP00000299238:E149K	ENSP00000299238:E149K	E	+	1	0	HPS6	103815666	0.990000	0.36364	0.024000	0.17045	0.001000	0.01503	1.640000	0.37186	0.194000	0.20326	-0.463000	0.05309	GAG		0.736	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2		NM_024747		4	0	0	0	0	0.009096	0	4	0		
OR51D1	390038	broad.mit.edu	37	11	4661394	4661394	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:4661394C>T	ENST00000357605.2	+	1	450	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCGTGGAGTCAGCTGTCCTG	0.547																																						uc010qyk.1		NaN																	0					0						c.(373-375)TCA>TTA		olfactory receptor, family 51, subfamily D,							124.0	102.0	110.0					11																	4661394		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661394C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.374C>T	11.37:g.4661394C>T	ENSP00000350222:p.Ser125Leu						p.S125L	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	374	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	125			Helical; Name=3; (Potential).		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.374C>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558076	0.65538	.	.	ENSG00000197428	ENST00000357605	T	0.00840	5.63	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38058	N	0.001821	T	0.06645	0.0170	M	0.86028	2.79	0.45914	D	0.998754	D	0.89917	1.0	D	0.91635	0.999	T	0.02457	-1.1156	10	0.87932	D	0	.	16.1398	0.81515	0.0:1.0:0.0:0.0	.	125	Q8NGF3	O51D1_HUMAN	L	125	ENSP00000350222:S125L	ENSP00000350222:S125L	S	+	2	0	OR51D1	4617970	0.758000	0.28405	0.975000	0.42487	0.600000	0.36913	1.389000	0.34453	2.433000	0.82419	0.563000	0.77884	TCA		0.547	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1		NM_001004751		37	25	0	0	0	0.064281	0	37	25		
OR51D1	390038	broad.mit.edu	37	11	4661499	4661499	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:4661499C>T	ENST00000357605.2	+	1	555	c.479C>T	c.(478-480)tCt>tTt	p.S160F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S160Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGGACTATCTGCCCTGACC	0.532																																						uc010qyk.1		NaN																	1	Substitution - Missense(1)		autonomic_ganglia(1)		0						c.(478-480)TCT>TTT		olfactory receptor, family 51, subfamily D,							225.0	194.0	205.0					11																	4661499		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661499C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.479C>T	11.37:g.4661499C>T	ENSP00000350222:p.Ser160Phe						p.S160F	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	479	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	160			Helical; Name=4; (Potential).		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.479C>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	1.661	-0.511588	0.04200	.	.	ENSG00000197428	ENST00000357605	T	0.35973	1.28	4.43	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.154700	0.30177	N	0.010233	T	0.17831	0.0428	N	0.05554	-0.025	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.18147	-1.0346	10	0.72032	D	0.01	.	7.3867	0.26886	0.0:0.7265:0.0:0.2735	.	160	Q8NGF3	O51D1_HUMAN	F	160	ENSP00000350222:S160F	ENSP00000350222:S160F	S	+	2	0	OR51D1	4618075	0.000000	0.05858	0.013000	0.15412	0.000000	0.00434	0.232000	0.17891	0.606000	0.29965	-0.219000	0.12488	TCT		0.532	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1		NM_001004751		60	64	0	0	0	0.048971	0	60	64		
CAPRIN1	4076	broad.mit.edu	37	11	34097866	34097867	+	Missense_Mutation	DNP	TG	TG	CA	rs140627436	byFrequency	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:34097866_34097867TG>CA	ENST00000341394.4	+	5	639_640	c.450_451TG>CA	c.(448-453)ctTGag>ctCAag	p.E151K	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.E151K|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.E151K|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.E151K|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.E70K	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	151					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AAACTGTACTTGAGCTACAGTA	0.401																																						uc001mvh.1		NaN																	0				ovary(1)	1						c.(448-453)CTTGAG>CTCAAG		membrane component chromosome 11 surface marker																																				SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34097866_34097867TG>CA	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	Exception_encountered	11.37:g.34097866_34097867delinsCA	ENSP00000340329:p.Glu151Lys					CAPRIN1_uc001mvg.2_Missense_Mutation_p.E151K|CAPRIN1_uc001mvi.2_Missense_Mutation_p.E151K|CAPRIN1_uc001mvj.1_Missense_Mutation_p.E70K	p.E151K	NM_005898	NP_005889	Q14444	CAPR1_HUMAN			5	639_640	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	151			Potential.		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	DNP	ENST00000341394.4	37	c.450_451TG>CA	CCDS31453.1																																																																																				0.401	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2		NM_005898		26	24	0	0	0	0.004672	0	26	24		
PCNXL3	399909	broad.mit.edu	37	11	65385501	65385501	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:65385501A>G	ENST00000355703.3	+	6	1207	c.668A>G	c.(667-669)gAt>gGt	p.D223G		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	223						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTGGCTGGAGATGGAGCGCCC	0.622																																						uc001oey.2		NaN																	0					0						c.(667-669)GAT>GGT		pecanex-like 3							13.0	15.0	14.0					11																	65385501		1931	4121	6052	SO:0001583	missense	399909					integral to membrane		g.chr11:65385501A>G	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.668A>G	11.37:g.65385501A>G	ENSP00000347931:p.Asp223Gly						p.D223G	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			6	668	+			223					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.668A>G	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	A	9.373	1.071090	0.20147	.	.	ENSG00000197136	ENST00000355703	T	0.06933	3.24	5.11	3.91	0.45181	.	0.000000	0.41294	D	0.000919	T	0.03915	0.0110	N	0.08118	0	0.25458	N	0.98794	B	0.22003	0.063	B	0.15052	0.012	T	0.40384	-0.9566	10	0.23891	T	0.37	.	8.3131	0.32084	0.7997:0.2003:0.0:0.0	.	223	Q9H6A9	PCX3_HUMAN	G	223	ENSP00000347931:D223G	ENSP00000347931:D223G	D	+	2	0	PCNXL3	65142077	0.939000	0.31865	1.000000	0.80357	0.994000	0.84299	1.530000	0.36007	1.917000	0.55516	0.533000	0.62120	GAT		0.622	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223		7	8	0	0	0	0.02938	0	7	8		
SHANK2	22941	broad.mit.edu	37	11	70332827	70332827	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:70332827C>T	ENST00000423696.2	-	15	2470	c.2434G>A	c.(2434-2436)Gcg>Acg	p.A812T	SHANK2_ENST00000449833.2_Missense_Mutation_p.A596T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A595T|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1192T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	812					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGCTGCTCGCGGAGGGCACT	0.706																																						uc001oqc.2		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3571-3573)GCG>ACG		SH3 and multiple ankyrin repeat domains 2							20.0	26.0	24.0					11																	70332827		2192	4290	6482	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332827C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2434G>A	11.37:g.70332827C>T	ENSP00000394536:p.Ala812Thr					SHANK2_uc010rqn.1_Missense_Mutation_p.A603T|SHANK2_uc001opz.2_Missense_Mutation_p.A596T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.A1191T	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3649	-			812					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3571G>A		.	.	.	.	.	.	.	.	.	.	C	0.010	-1.777281	0.00640	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	3.62	1.14	0.20703	.	1.993000	0.03565	N	0.227639	T	0.30293	0.0760	L	0.29908	0.895	0.27447	N	0.953541	B;B;B	0.17667	0.008;0.023;0.023	B;B;B	0.08055	0.001;0.002;0.003	T	0.13791	-1.0496	10	0.20046	T	0.44	.	5.831	0.18581	0.0:0.0901:0.3193:0.5906	.	812;1191;596	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	596;595;470;1192;812;830;815	ENSP00000399423:A596T;ENSP00000386491:A595T;ENSP00000402944:A470T;ENSP00000345193:A1192T;ENSP00000394536:A812T;ENSP00000294018:A815T	ENSP00000294018:A815T	A	-	1	0	SHANK2	70010475	1.000000	0.71417	0.001000	0.08648	0.000000	0.00434	1.432000	0.34936	-0.061000	0.13110	-0.340000	0.08031	GCG		0.706	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309		15	48	0	0	0	0.020292	0	15	48		
ARHGEF12	23365	broad.mit.edu	37	11	120298916	120298916	+	Missense_Mutation	SNP	C	C	G	rs147982337	byFrequency	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:120298916C>G	ENST00000397843.2	+	8	711	c.545C>G	c.(544-546)tCt>tGt	p.S182C	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S79C|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S163C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	182					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCTGGAGCATCTGGGAATATG	0.458			T	MLL	AML																																	uc001pxl.1		NaN		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(544-546)TCT>TGT		Rho guanine nucleotide exchange factor (GEF) 12							125.0	118.0	121.0					11																	120298916		1903	4115	6018	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120298916C>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.545C>G	11.37:g.120298916C>G	ENSP00000380942:p.Ser182Cys					ARHGEF12_uc009zat.2_Missense_Mutation_p.S163C|ARHGEF12_uc010rzn.1_Missense_Mutation_p.S79C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S79C	p.S182C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	8	552	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	182					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.545C>G	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533115	0.64972	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.47177	0.85;0.85;0.85	5.68	5.68	0.88126	.	0.163879	0.28964	N	0.013569	T	0.52517	0.1739	L	0.47716	1.5	0.22292	N	0.999228	P;P;P	0.51240	0.943;0.796;0.903	B;P;P	0.51415	0.376;0.669;0.503	T	0.50372	-0.8836	10	0.46703	T	0.11	-3.8833	14.6083	0.68495	0.1458:0.8542:0.0:0.0	.	79;163;182	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	C	182;163;79	ENSP00000380942:S182C;ENSP00000349056:S163C;ENSP00000432984:S79C	ENSP00000349056:S163C	S	+	2	0	ARHGEF12	119804126	0.143000	0.22626	0.958000	0.39756	0.991000	0.79684	1.987000	0.40687	2.673000	0.90976	0.655000	0.94253	TCT		0.458	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1		NM_015313		73	117	0	0	0	0.048971	0	73	117		
IGSF9B	22997	broad.mit.edu	37	11	133789947	133789947	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:133789947G>C	ENST00000321016.8	-	18	3903	c.3673C>G	c.(3673-3675)Cgc>Ggc	p.R1225G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1225G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1225	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCCCGGGCGAGGCCGGGCA	0.677																																						uc001qgx.3		NaN																	0					0						c.(3673-3675)CGC>GGC		immunoglobulin superfamily, member 9B							19.0	24.0	23.0					11																	133789947		1849	4054	5903	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133789947G>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3673C>G	11.37:g.133789947G>C	ENSP00000317980:p.Arg1225Gly						p.R1225G	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3904	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1225			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3673C>G		.	.	.	.	.	.	.	.	.	.	G	16.46	3.130248	0.56721	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.76448	-0.73;-1.02	5.11	5.11	0.69529	.	0.000000	0.44483	D	0.000455	T	0.81950	0.4931	L	0.27053	0.805	0.53688	D	0.999972	D	0.63880	0.993	D	0.71184	0.972	D	0.84747	0.0754	10	0.87932	D	0	.	18.1257	0.89585	0.0:0.0:1.0:0.0	.	1225	Q9UPX0	TUTLB_HUMAN	G	1225;1067	ENSP00000317980:R1225G;ENSP00000436552:R1067G	ENSP00000317980:R1225G	R	-	1	0	IGSF9B	133295157	1.000000	0.71417	0.634000	0.29324	0.415000	0.31203	6.128000	0.71650	2.381000	0.81170	0.555000	0.69702	CGC		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502		21	45	0	0	0	0.049695	0	21	45		
CAPRIN2	65981	broad.mit.edu	37	12	30863384	30863384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:30863384G>A	ENST00000298892.5	-	17	3436	c.2686C>T	c.(2686-2688)Cag>Tag	p.Q896*	CAPRIN2_ENST00000417045.1_Silent_p.L959L|CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.Q946*|CAPRIN2_ENST00000395805.2_Silent_p.L904L|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q612*	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTGCTCACCTGAGAAGAATCA	0.448																																						uc001rji.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2836-2838)CAG>TAG		C1q domain containing 1 isoform 1							120.0	128.0	125.0					12																	30863384		2203	4300	6503	SO:0001587	stop_gained	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30863384G>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2686C>T	12.37:g.30863384G>A	ENSP00000298892:p.Gln896*					CAPRIN2_uc001rjf.1_Silent_p.L756L|CAPRIN2_uc001rjg.1_Nonsense_Mutation_p.Q613*|CAPRIN2_uc001rjh.1_Nonsense_Mutation_p.Q896*|CAPRIN2_uc001rjj.1_Nonsense_Mutation_p.Q612*|CAPRIN2_uc001rjk.3_Silent_p.L959L|CAPRIN2_uc001rjl.3_Silent_p.L904L	p.Q946*	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			18	3587	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		946						Nonsense_Mutation	SNP	ENST00000298892.5	37	c.2836C>T	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	G	51	17.888143	0.99895	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	.	.	.	5.13	5.13	0.70059	.	0.265016	0.38217	N	0.001771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.4692	18.9675	0.92702	0.0:0.0:1.0:0.0	.	.	.	.	X	896;946;612	.	ENSP00000251071:Q946X	Q	-	1	0	CAPRIN2	30754651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.542000	0.98086	2.566000	0.86566	0.655000	0.94253	CAG		0.448	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1		NM_023925		88	153	0	0	0	0.048971	0	88	153		
SELPLG	6404	broad.mit.edu	37	12	109017670	109017670	+	Silent	SNP	G	G	T	rs63748999|rs372173288	byFrequency	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:109017670G>T	ENST00000550948.1	-	2	638	c.414C>A	c.(412-414)ccC>ccA	p.P138P	SELPLG_ENST00000228463.6_Silent_p.P154P|SELPLG_ENST00000388962.3_Intron			Q14242	SELPL_HUMAN	selectin P ligand	138	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505206}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTGCCTCCGTGGGCACTGGTT	0.612																																						uc001tni.2		NaN																	0					0						c.(412-414)CCC>CCA		selectin P ligand							163.0	126.0	139.0					12																	109017670		2203	4299	6502	SO:0001819	synonymous_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017670G>T		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.414C>A	12.37:g.109017670G>T						SELPLG_uc001tnh.2_Intron|SELPLG_uc010sxe.1_Silent_p.P154P	p.P138P	NM_003006	NP_002997	Q14242	SELPL_HUMAN			2	574	-			138			2.|Extracellular (Potential).|12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	c.414C>A	CCDS31895.2																																																																																				0.612	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1				29	71	1	0	7.26314e-15	0.034045	7.70602e-15	29	71		
CORO1C	23603	broad.mit.edu	37	12	109095087	109095087	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:109095087C>G	ENST00000261401.3	-	2	180	c.8G>C	c.(7-9)cGa>cCa	p.R3P	CORO1C_ENST00000420959.2_Missense_Mutation_p.R56P|CORO1C_ENST00000549772.1_Missense_Mutation_p.R9P|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000541050.1_Missense_Mutation_p.R3P	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	3					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TCGTACCACTCGCCTCATCGT	0.428																																						uc001tnj.2		NaN																	0				skin(3)	3						c.(7-9)CGA>CCA		coronin, actin binding protein, 1C isoform 1							127.0	104.0	112.0					12																	109095087		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109095087C>G	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.8G>C	12.37:g.109095087C>G	ENSP00000261401:p.Arg3Pro					CORO1C_uc009zva.2_Missense_Mutation_p.R56P|CORO1C_uc010sxf.1_Missense_Mutation_p.R3P	p.R3P	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			2	104	-			3					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.8G>C	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075251	0.76415	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000549772;ENST00000420959;ENST00000547294;ENST00000550032;ENST00000551550;ENST00000546571;ENST00000551044	T;T;T;T;T;T;T;T;T	0.79845	-0.2;-0.2;-0.08;-0.21;-0.64;-0.27;-0.82;-1.03;-1.31	5.56	4.66	0.58398	Domain of unknown function DUF1899 (1);	0.064498	0.64402	D	0.000004	D	0.85890	0.5802	L	0.47716	1.5	0.80722	D	1	D;P;D	0.58268	0.982;0.906;0.961	D;D;D	0.66847	0.922;0.947;0.922	D	0.86021	0.1507	10	0.46703	T	0.11	-3.0754	16.4636	0.84071	0.0:0.8687:0.1313:0.0	.	3;56;3	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	P	3;3;9;56;3;3;3;3;3	ENSP00000261401:R3P;ENSP00000438341:R3P;ENSP00000447534:R9P;ENSP00000394496:R56P;ENSP00000449330:R3P;ENSP00000447989:R3P;ENSP00000448527:R3P;ENSP00000448195:R3P;ENSP00000447049:R3P	ENSP00000261401:R3P	R	-	2	0	CORO1C	107619216	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.442000	0.80503	1.340000	0.45581	0.586000	0.80456	CGA		0.428	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1		NM_014325		39	72	0	0	0	0.080422	0	39	72		
NUDT15	55270	broad.mit.edu	37	13	48611984	48611984	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:48611984G>C	ENST00000258662.2	+	1	282	c.102G>C	c.(100-102)agG>agC	p.R34S	SUCLA2_ENST00000543413.1_5'UTR	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	34	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		TGGGGAAGAGGAAAGGCTCGG	0.682											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vbw.1		NaN																	0					0						c.(100-102)AGG>AGC		nudix-type motif 15							43.0	39.0	41.0					13																	48611984		2203	4299	6502	SO:0001583	missense	55270						hydrolase activity|metal ion binding	g.chr13:48611984G>C		CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"""Nudix motif containing"""	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.102G>C	13.37:g.48611984G>C	ENSP00000258662:p.Arg34Ser		OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955	SUCLA2_uc010tgd.1_5'UTR|NUDT15_uc001vbv.2_Missense_Mutation_p.R34S	p.R34S	NM_018283	NP_060753	Q9NV35	NUD15_HUMAN		GBM - Glioblastoma multiforme(144;4.83e-07)	1	282	+		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	34			Nudix hydrolase.		A2RUR6|Q32Q27|Q6P2C9	Missense_Mutation	SNP	ENST00000258662.2	37	c.102G>C	CCDS9407.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042531	0.55003	.	.	ENSG00000136159	ENST00000258662	T	0.26223	1.75	5.57	3.72	0.42706	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	H	0.94222	3.51	0.47407	D	0.999416	D	0.76494	0.999	D	0.78314	0.991	T	0.65911	-0.6053	10	0.87932	D	0	0.3208	10.2129	0.43152	0.1765:0.0:0.8235:0.0	.	34	Q9NV35	NUD15_HUMAN	S	34	ENSP00000258662:R34S	ENSP00000258662:R34S	R	+	3	2	NUDT15	47509985	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	1.711000	0.37930	0.648000	0.30732	-0.137000	0.14449	AGG		0.682	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3		NM_018283		4	4	0	0	0	0.009096	0	4	4		
RBM26	64062	broad.mit.edu	37	13	79928636	79928636	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:79928636G>C	ENST00000438737.2	-	13	2364	c.1924C>G	c.(1924-1926)Cca>Gca	p.P642A	RBM26_ENST00000267229.7_Missense_Mutation_p.P639A|RBM26_ENST00000438724.1_Missense_Mutation_p.P642A			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	642					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GAAGGTACTGGACCCAGCCGC	0.463																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(1930-1932)CCA>GCA		RNA binding motif protein 26							73.0	72.0	72.0					13																	79928636		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79928636G>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1924C>G	13.37:g.79928636G>C	ENSP00000387531:p.Pro642Ala					RBM26_uc001vky.2_Missense_Mutation_p.P639A|RBM26_uc001vla.2_Missense_Mutation_p.P642A|RBM26_uc010tia.1_Missense_Mutation_p.P23A|RBM26_uc001vkx.2_Missense_Mutation_p.P354A	p.P644A	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	13	1944	-		Acute lymphoblastic leukemia(28;0.0279)	642					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.1930C>G		.	.	.	.	.	.	.	.	.	.	G	25.1	4.599759	0.87055	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.93488	-3.23;-3.23	5.62	5.62	0.85841	.	0.051956	0.85682	D	0.000000	D	0.95714	0.8606	L	0.50333	1.59	0.80722	D	1	D;D;P;D	0.89917	1.0;0.967;0.905;0.967	D;P;P;P	0.83275	0.996;0.836;0.543;0.836	D	0.94455	0.7671	9	.	.	.	-12.7265	20.0333	0.97547	0.0:0.0:1.0:0.0	.	23;642;642;639	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	A	639;643;642;642	ENSP00000267229:P639A;ENSP00000390222:P642A	.	P	-	1	0	RBM26	78826637	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.187000	0.77730	2.810000	0.96702	0.585000	0.79938	CCA		0.463	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		4	77	0	0	0	0.014758	0	4	77		
FARP1	10160	broad.mit.edu	37	13	99083532	99083532	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:99083532G>A	ENST00000319562.6	+	18	2406	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	FARP1_ENST00000376586.2_Missense_Mutation_p.R714Q|FARP1_ENST00000595437.1_Missense_Mutation_p.R714Q	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	714	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		R -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R714L(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGGACTGCCGAGGTGAGTGC	0.687																																						uc001vnj.2		NaN																	2	Substitution - Missense(2)	p.R714L(2)	breast(2)	breast(2)	2						c.(2140-2142)CGA>CAA		FERM, RhoGEF, and pleckstrin domain protein 1							9.0	10.0	10.0					13																	99083532		2185	4274	6459	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99083532G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2141G>A	13.37:g.99083532G>A	ENSP00000322926:p.Arg714Gln					FARP1_uc001vnh.2_Missense_Mutation_p.R714Q	p.R714Q	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		18	2477	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		714		R -> L (in a breast cancer sample; somatic mutation).	DH.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2141G>A	CCDS9487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.61|15.61	2.884072|2.884072	0.51908|0.51908	.|.	.|.	ENSG00000152767|ENSG00000152767	ENST00000423063|ENST00000376586;ENST00000319562	T|T;T	0.61742|0.67698	0.08|-0.28;-0.28	5.58|5.58	4.73|4.73	0.59995|0.59995	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53867|0.53867	0.1823|0.1823	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.21071	.|0.021;0.051	.|B;B	.|0.14023	.|0.005;0.01	T|T	0.47749|0.47749	-0.9093|-0.9093	6|10	.|0.17369	.|T	.|0.5	.|.	14.3189|14.3189	0.66470|0.66470	0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0	.|.	.|714;714	.|Q9Y4F1;C9JME2	.|FARP1_HUMAN;.	K|Q	17|714	ENSP00000410930:E17K|ENSP00000365771:R714Q;ENSP00000322926:R714Q	.|ENSP00000322926:R714Q	E|R	+|+	1|2	0|0	FARP1|FARP1	97881533|97881533	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.886000|0.886000	0.51366|0.51366	9.290000|9.290000	0.96065|0.96065	1.345000|1.345000	0.45676|0.45676	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.687	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766		4	3	0	0	0	0.021553	0	4	3		
TM9SF2	9375	broad.mit.edu	37	13	100154005	100154005	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:100154005G>A	ENST00000376387.4	+	1	335	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	LINC00449_ENST00000366259.2_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	49					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTCTGCGACGAAGAAAAAAA	0.647																																						uc001voj.1		NaN																	0				ovary(1)	1						c.(145-147)GAA>AAA		transmembrane 9 superfamily member 2 precursor							38.0	42.0	40.0					13																	100154005		2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100154005G>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.145G>A	13.37:g.100154005G>A	ENSP00000365567:p.Glu49Lys					TM9SF2_uc010afz.1_Missense_Mutation_p.E49K	p.E49K	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			1	278	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		49			Lumenal (Potential).		A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.145G>A	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	7.500	0.652551	0.14580	.	.	ENSG00000125304	ENST00000376387	T	0.41758	0.99	4.99	3.18	0.36537	.	0.748713	0.12746	N	0.442616	T	0.24275	0.0588	N	0.17312	0.475	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17715	-1.0360	10	0.32370	T	0.25	-0.4771	5.7761	0.18279	0.1113:0.1945:0.6942:0.0	.	49;49	E9PHW5;Q99805	.;TM9S2_HUMAN	K	49	ENSP00000365567:E49K	ENSP00000365567:E49K	E	+	1	0	TM9SF2	98952006	0.004000	0.15560	0.001000	0.08648	0.827000	0.46813	0.758000	0.26447	0.625000	0.30304	-0.150000	0.13652	GAA		0.647	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3				30	34	0	0	0	0.045705	0	30	34		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	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)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						uc001vup.2		NaN																	8	Substitution - coding silent(8)		lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	skin(1)	1						c.(271-273)CTG>TTG		UPF3 regulator of nonsense transcripts homolog A							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	p.L91L	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	308	+	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)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2				2	1	0	0	0	0.004672	0	2	1		
TMEM55B	90809	broad.mit.edu	37	14	20928871	20928871	+	Silent	SNP	G	G	A	rs150985847		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:20928871G>A	ENST00000250489.4	-	2	562	c.276C>T	c.(274-276)aaC>aaT	p.N92N	TMEM55B_ENST00000554028.1_De_novo_Start_OutOfFrame|TMEM55B_ENST00000398020.4_Silent_p.N99N			Q86T03	TM55B_HUMAN	transmembrane protein 55B	92						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		TGCCTTCCACGTTGATGAGAG	0.527																																						uc001vxl.2		NaN																	0					0						c.(274-276)AAC>AAT		transmembrane protein 55B isoform 2		G	,	2,4404	4.2+/-10.8	0,2,2201	141.0	134.0	136.0		297,276	1.0	1.0	14	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TMEM55B	NM_001100814.1,NM_144568.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	99/285,92/278	20928871	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20928871G>A	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.276C>T	14.37:g.20928871G>A						TMEM55B_uc001vxk.2_Silent_p.N99N	p.N92N	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	429	-	all_cancers(95;0.00123)	all_lung(585;0.235)	92					B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Silent	SNP	ENST00000250489.4	37	c.276C>T	CCDS9551.1																																																																																				0.527	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3		NM_144568		32	84	0	0	0	0.050027	0	32	84		
SOS2	6655	broad.mit.edu	37	14	50626242	50626242	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:50626242C>G	ENST00000216373.5	-	10	2033	c.1759G>C	c.(1759-1761)Gaa>Caa	p.E587Q	SOS2_ENST00000543680.1_Missense_Mutation_p.E554Q|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	587					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AAGTTGTCTTCAAAAACAATG	0.338																																						uc001wxs.3		NaN																	0				ovary(2)	2						c.(1759-1761)GAA>CAA		son of sevenless homolog 2							100.0	102.0	101.0					14																	50626242		2203	4299	6502	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626242C>G	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1759G>C	14.37:g.50626242C>G	ENSP00000216373:p.Glu587Gln					SOS2_uc010tql.1_Missense_Mutation_p.E554Q|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.E275Q	p.E587Q	NM_006939	NP_008870	Q07890	SOS2_HUMAN			10	1857	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		587					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1759G>C	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558138	0.86231	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.31769	1.48;1.48	5.67	5.67	0.87782	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.986	D;D;P	0.74348	0.983;0.918;0.554	T	0.65175	-0.6232	10	0.87932	D	0	.	20.1358	0.98028	0.0:1.0:0.0:0.0	.	554;617;587	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	Q	587;554	ENSP00000216373:E587Q;ENSP00000445328:E554Q	ENSP00000216373:E587Q	E	-	1	0	SOS2	49695992	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.722000	0.84778	2.833000	0.97629	0.585000	0.79938	GAA		0.338	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2				44	85	0	0	0	0.039052	0	44	85		
FBXO34	55030	broad.mit.edu	37	14	55817155	55817155	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:55817155C>T	ENST00000313833.4	+	2	292	c.47C>T	c.(46-48)cCg>cTg	p.P16L	FBXO34_ENST00000440021.1_Missense_Mutation_p.P16L|FBXO34_ENST00000555087.1_3'UTR	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	16										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAGCACCCCCCGGAAGTCAGC	0.423																																						uc001xbu.2		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(46-48)CCG>CTG		F-box only protein 34							55.0	54.0	54.0					14																	55817155		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55817155C>T	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.47C>T	14.37:g.55817155C>T	ENSP00000313159:p.Pro16Leu					FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.P16L	p.P16L	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	292	+			16					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.47C>T	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	0.217	-1.031396	0.02029	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.26373	1.74;1.74	4.84	1.2	0.21068	.	0.537042	0.16740	N	0.201493	T	0.06371	0.0164	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40553	-0.9557	10	0.02654	T	1	-15.4276	8.7685	0.34717	0.0:0.3388:0.0:0.6612	.	16	Q9NWN3	FBX34_HUMAN	L	16	ENSP00000313159:P16L;ENSP00000394117:P16L	ENSP00000313159:P16L	P	+	2	0	FBXO34	54886908	0.014000	0.17966	0.088000	0.20740	0.061000	0.15899	0.215000	0.17562	0.051000	0.15978	-0.320000	0.08662	CCG		0.423	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1				15	45	0	0	0	0.020292	0	15	45		
PSEN1	5663	broad.mit.edu	37	14	73683862	73683862	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:73683862C>A	ENST00000324501.5	+	11	1430	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L	PSEN1_ENST00000557511.1_Missense_Mutation_p.F328L|PSEN1_ENST00000261970.3_Missense_Mutation_p.F328L|PSEN1_ENST00000357710.4_Missense_Mutation_p.F382L|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000394164.1_Missense_Mutation_p.F382L|PSEN1_ENST00000406768.1_Missense_Mutation_p.F294L	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	386	Required for interaction with CTNNB1.|Required for interaction with CTNND2.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGGGAGATTTCATTTTCTACA	0.368																																						uc001xnr.2		NaN																	0				breast(1)|kidney(1)	2						c.(1156-1158)TTC>TTA		presenilin 1 isoform I-467							100.0	101.0	101.0					14																	73683862		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73683862C>A	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1158C>A	14.37:g.73683862C>A	ENSP00000326366:p.Phe386Leu					PSEN1_uc001xnv.2_Missense_Mutation_p.F382L|PSEN1_uc010ark.2_Missense_Mutation_p.F382L|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	p.F386L	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	11	1442	+			386			Required for interaction with CTNND2.|Required for interaction with CTNNB1.|Cytoplasmic (Potential).		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.1158C>A	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362304	0.95877	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D	0.99869	-7.04;-7.04;-7.34;-7.04;-7.34;-7.04	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	H	0.94183	3.505	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.85130	0.986;0.997	D	0.96747	0.9551	10	0.62326	D	0.03	-24.3707	20.181	0.98201	0.0:1.0:0.0:0.0	.	382;386	P49768-2;P49768	.;PSN1_HUMAN	L	386;382;328;382;328;294	ENSP00000326366:F386L;ENSP00000350342:F382L;ENSP00000261970:F328L;ENSP00000377719:F382L;ENSP00000451429:F328L;ENSP00000385948:F294L	ENSP00000261970:F328L	F	+	3	2	PSEN1	72753615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.676000	0.68131	2.840000	0.97914	0.655000	0.94253	TTC		0.368	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2				51	74	1	0	5.85753e-14	0.048971	6.17703e-14	51	74		
AHNAK2	113146	broad.mit.edu	37	14	105411641	105411641	+	Missense_Mutation	SNP	C	C	T	rs374841889		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:105411641C>T	ENST00000333244.5	-	7	10266	c.10147G>A	c.(10147-10149)Gag>Aag	p.E3383K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3383						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGCTCCCTCGGGCACGTGG	0.632																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(10147-10149)GAG>AAG		AHNAK nucleoprotein 2		C	LYS/GLU	0,3782		0,0,1891	128.0	140.0	136.0		10147	3.2	0.1	14		136	2,8202		0,2,4100	no	missense	AHNAK2	NM_138420.2	56	0,2,5991	TT,TC,CC		0.0244,0.0,0.0167	benign	3383/5796	105411641	2,11984	1891	4102	5993	SO:0001583	missense	113146					nucleus		g.chr14:105411641C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10147G>A	14.37:g.105411641C>T	ENSP00000353114:p.Glu3383Lys					AHNAK2_uc001ypx.2_Missense_Mutation_p.E3283K	p.E3383K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10267	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3383					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10147G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.92	2.975101	0.53720	0.0	2.44E-4	ENSG00000185567	ENST00000333244	T	0.01947	4.54	4.12	3.22	0.36961	.	.	.	.	.	T	0.06096	0.0158	L	0.46885	1.475	0.09310	N	1	D	0.89917	1.0	D	0.67382	0.951	T	0.15206	-1.0445	9	0.07482	T	0.82	.	11.5023	0.50446	0.0:0.8169:0.1831:0.0	.	3383	Q8IVF2	AHNK2_HUMAN	K	3383	ENSP00000353114:E3383K	ENSP00000353114:E3383K	E	-	1	0	AHNAK2	104482686	0.003000	0.15002	0.112000	0.21494	0.134000	0.20937	-0.133000	0.10451	0.934000	0.37316	0.491000	0.48974	GAG		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		94	225	0	0	0	0.048971	0	94	225		
TPM1	7168	broad.mit.edu	37	15	63354444	63354444	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:63354444G>C	ENST00000403994.3	+	7	750	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	TPM1_ENST00000560959.1_Missense_Mutation_p.E188Q|TPM1_ENST00000317516.7_Missense_Mutation_p.E188Q|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.E224Q|TPM1_ENST00000559397.1_Missense_Mutation_p.E224Q|TPM1_ENST00000358278.3_Missense_Mutation_p.E224Q|TPM1_ENST00000559281.1_Missense_Mutation_p.E188Q|TPM1_ENST00000357980.4_Missense_Mutation_p.E266Q|TPM1_ENST00000404484.4_Missense_Mutation_p.E188Q|TPM1_ENST00000267996.7_Missense_Mutation_p.E224Q|TPM1_ENST00000288398.6_Missense_Mutation_p.E224Q|TPM1_ENST00000334895.5_Missense_Mutation_p.E188Q	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	224					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						ATATGAGGAAGAGATCAAGGT	0.433																																						uc002alg.2		NaN																	0					0						c.(670-672)GAG>CAG		tropomyosin 1 alpha chain isoform 1							96.0	91.0	93.0					15																	63354444		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63354444G>C	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.670G>C	15.37:g.63354444G>C	ENSP00000385107:p.Glu224Gln					TPM1_uc002alh.2_Missense_Mutation_p.E224Q|TPM1_uc010bgn.2_RNA|TPM1_uc002ali.2_Missense_Mutation_p.E224Q|TPM1_uc002alj.2_Missense_Mutation_p.E224Q|TPM1_uc002alk.2_Missense_Mutation_p.E224Q|TPM1_uc002all.2_Missense_Mutation_p.E224Q|TPM1_uc002alm.2_Missense_Mutation_p.E266Q|TPM1_uc010uie.1_Missense_Mutation_p.E224Q|TPM1_uc002alp.2_Missense_Mutation_p.E224Q|TPM1_uc010uif.1_Missense_Mutation_p.E188Q|TPM1_uc002alr.2_Missense_Mutation_p.E188Q|TPM1_uc002als.2_Missense_Mutation_p.E188Q|TPM1_uc010uig.1_Missense_Mutation_p.E188Q|TPM1_uc002alt.2_Missense_Mutation_p.E188Q|TPM1_uc010bgp.2_Missense_Mutation_p.E98Q	p.E224Q	NM_001018005	NP_001018005	P09493	TPM1_HUMAN			7	861	+			224			By similarity.		B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	c.670G>C	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288208	0.80803	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.84	5.84	0.93424	.	0.000000	0.52532	D	0.000078	D	0.83857	0.5345	L	0.55481	1.735	0.80722	D	1	D;D;B;D;B;D;P;B;B;D;P;B;D;P	0.89917	1.0;0.992;0.195;0.999;0.337;1.0;0.806;0.306;0.381;0.971;0.464;0.079;0.999;0.806	D;D;P;D;B;D;P;B;P;P;P;B;D;P	0.85130	0.997;0.977;0.543;0.992;0.082;0.99;0.642;0.321;0.54;0.853;0.782;0.112;0.997;0.642	T	0.76844	-0.2809	10	0.05436	T	0.98	-21.4784	19.1228	0.93371	0.0:0.0:1.0:0.0	.	188;188;224;190;188;188;224;266;224;224;224;224;224;224	B7Z722;B7Z596;P09493-6;F5H7S3;D9YZV7;Q1ZYL5;D9YZV4;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3;D9YZV2;P09493	.;.;.;.;.;.;.;.;.;.;.;.;.;TPM1_HUMAN	Q	224;224;224;224;266;246;188;190	ENSP00000288398:E224Q;ENSP00000267996:E224Q;ENSP00000351022:E224Q;ENSP00000385107:E224Q;ENSP00000350667:E266Q;ENSP00000334624:E188Q	ENSP00000267996:E224Q	E	+	1	0	TPM1	61141497	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	9.695000	0.98691	2.765000	0.95021	0.655000	0.94253	GAG		0.433	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2		NM_001018004		28	69	0	0	0	0.041601	0	28	69		
RPL4	6124	broad.mit.edu	37	15	66794183	66794183	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:66794183C>G	ENST00000307961.6	-	5	581	c.489G>C	c.(487-489)aaG>aaC	p.K163N	RPL4_ENST00000568588.1_Missense_Mutation_p.K69N|SNORD18A_ENST00000363753.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	163					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CTTCCTTGGTCTTCTTGTAGC	0.383																																						uc002apv.2		NaN																	0					0						c.(487-489)AAG>AAC		ribosomal protein L4							93.0	89.0	91.0					15																	66794183		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66794183C>G	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.489G>C	15.37:g.66794183C>G	ENSP00000311430:p.Lys163Asn					RPL4_uc010bhr.2_Missense_Mutation_p.K69N|RPL4_uc002apw.2_Missense_Mutation_p.K69N|RPL4_uc002apx.2_Missense_Mutation_p.K69N|RPL4_uc010ujq.1_Missense_Mutation_p.K163N|SNORD18C_uc010bhs.1_5'Flank	p.K163N	NM_000968	NP_000959	P36578	RL4_HUMAN			5	545	-			163					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.489G>C	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782460	0.70222	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.1	4.19	0.49359	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.997;0.998	D	0.87947	0.2721	9	0.87932	D	0	-17.8414	8.0376	0.30502	0.0:0.7484:0.0:0.2516	.	163;163	B4DFI6;P36578	.;RL4_HUMAN	N	163	.	ENSP00000311430:K163N	K	-	3	2	RPL4	64581237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.433000	0.34947	1.382000	0.46385	0.655000	0.94253	AAG		0.383	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2		NM_000968		31	49	0	0	0	0.041601	0	31	49		
CACNA1H	8912	broad.mit.edu	37	16	1271924	1271924	+	IGR	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:1271924G>C	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.S277C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGGGTACCCAGACTCTGAGCC	0.657																																						uc002ckw.2		NaN																	0					0						c.(829-831)TCT>TGT		transmembrane tryptase preproprotein							32.0	41.0	38.0					16																	1271924		2198	4300	6498	SO:0001628	intergenic_variant	25823				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr16:1271924G>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1271924G>C							p.S277C	NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN			6	832	-		Hepatocellular(780;0.00369)	277					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.830C>G	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	13.97	2.396630	0.42512	.	.	ENSG00000116176	ENST00000234798	D	0.88354	-2.37	2.83	-2.67	0.06059	.	.	.	.	.	T	0.75817	0.3901	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.40602	0.334	T	0.67558	-0.5640	9	0.37606	T	0.19	.	4.1426	0.10200	0.3532:0.0:0.4771:0.1697	.	277	Q9NRR2	TRYG1_HUMAN	C	277	ENSP00000234798:S277C	ENSP00000234798:S277C	S	-	2	0	TPSG1	1211925	0.001000	0.12720	0.000000	0.03702	0.047000	0.14425	0.433000	0.21477	-0.551000	0.06175	0.580000	0.79431	TCT		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1		NM_001005407		10	22	0	0	0	0.069234	0	10	22		
CACNA1H	8912	broad.mit.edu	37	16	1271985	1271985	+	IGR	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:1271985G>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.R257C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.R257C(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCAGGGACACGAGTGTAGACT	0.672																																						uc002ckw.2		NaN																	1	Substitution - Missense(1)		skin(1)		0						c.(769-771)CGT>TGT		transmembrane tryptase preproprotein							28.0	39.0	35.0					16																	1271985		2195	4297	6492	SO:0001628	intergenic_variant	25823				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr16:1271985G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1271985G>A							p.R257C	NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN			6	771	-		Hepatocellular(780;0.00369)	257			Peptidase S1.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.769C>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	16.53	3.148840	0.57151	.	.	ENSG00000116176	ENST00000234798	D	0.94793	-3.52	4.28	2.15	0.27550	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97222	0.9092	H	0.95151	3.63	0.20403	N	0.999906	D	0.89917	1.0	D	0.63283	0.913	D	0.90173	0.4237	9	0.72032	D	0.01	.	6.2156	0.20653	0.1076:0.0:0.705:0.1874	.	257	Q9NRR2	TRYG1_HUMAN	C	257	ENSP00000234798:R257C	ENSP00000234798:R257C	R	-	1	0	TPSG1	1211986	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.135000	0.10420	2.059000	0.61396	0.645000	0.84053	CGT		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1		NM_001005407		11	28	0	0	0	0.080935	0	11	28		
ITGAL	3683	broad.mit.edu	37	16	30521724	30521724	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:30521724G>A	ENST00000356798.6	+	22	2731	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.E767K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	851					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCTTCCTGAAGAGTCCAGGCT	0.532																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NaN																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(2551-2553)GAG>AAG		integrin alpha L isoform a precursor	Efalizumab(DB00095)						143.0	131.0	135.0					16																	30521724		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30521724G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2551G>A	16.37:g.30521724G>A	ENSP00000349252:p.Glu851Lys					ITGAL_uc002dyj.3_Missense_Mutation_p.E767K|ITGAL_uc010vev.1_Intron	p.E851K	NM_002209	NP_002200	P20701	ITAL_HUMAN			22	2727	+			851			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2551G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.578235	0.28180	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.52526	0.66;0.66	4.36	2.14	0.27477	Integrin alpha-2 (1);	0.952573	0.08660	N	0.912606	T	0.46541	0.1398	L	0.57536	1.79	0.09310	N	1	P;P	0.37141	0.584;0.584	B;B	0.40702	0.338;0.186	T	0.33523	-0.9865	10	0.21540	T	0.41	.	10.1056	0.42530	0.0:0.4001:0.5999:0.0	.	767;851	Q96HB1;P20701	.;ITAL_HUMAN	K	851;767	ENSP00000349252:E851K;ENSP00000350886:E767K	ENSP00000349252:E851K	E	+	1	0	ITGAL	30429225	0.001000	0.12720	0.006000	0.13384	0.230000	0.25150	0.904000	0.28491	1.134000	0.42165	0.187000	0.17357	GAG		0.532	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2				41	88	0	0	0	0.039052	0	41	88		
IRX6	79190	broad.mit.edu	37	16	55362791	55362791	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:55362791G>C	ENST00000290552.7	+	5	2233	c.901G>C	c.(901-903)Gag>Cag	p.E301Q	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	301					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TGCAGCTCGAGAGGGCCGATT	0.657																																						uc002ehy.2		NaN																	0				central_nervous_system(5)|ovary(1)	6						c.(901-903)GAG>CAG		iroquois homeobox protein 6							44.0	48.0	47.0					16																	55362791		2197	4298	6495	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362791G>C	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.901G>C	16.37:g.55362791G>C	ENSP00000290552:p.Glu301Gln					IRX6_uc002ehx.2_Missense_Mutation_p.E301Q	p.E301Q	NM_024335	NP_077311	P78412	IRX6_HUMAN			5	1434	+			301					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.901G>C	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	8.140	0.785079	0.16189	.	.	ENSG00000159387	ENST00000290552	D	0.89343	-2.5	5.27	2.07	0.26955	.	0.764797	0.12802	N	0.437926	T	0.78591	0.4307	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61792	-0.6990	10	0.21540	T	0.41	-3.5907	5.6604	0.17667	0.1924:0.3953:0.4123:0.0	.	301	P78412	IRX6_HUMAN	Q	301	ENSP00000290552:E301Q	ENSP00000290552:E301Q	E	+	1	0	IRX6	53920292	0.000000	0.05858	0.002000	0.10522	0.522000	0.34438	0.286000	0.18902	0.593000	0.29745	0.462000	0.41574	GAG		0.657	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4		NM_024335		23	56	0	0	0	0.069288	0	23	56		
CDH3	1001	broad.mit.edu	37	16	68716273	68716273	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:68716273C>T	ENST00000264012.4	+	9	1609	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CDH3_ENST00000429102.2_Silent_p.D355D|CDH3_ENST00000581171.1_Silent_p.D300D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTGATCTGGACGCCCCCAACT	0.592																																						uc002ewf.2		NaN																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(1063-1065)GAC>GAT		cadherin 3, type 1 preproprotein							102.0	73.0	83.0					16																	68716273		2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68716273C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1065C>T	16.37:g.68716273C>T						CDH3_uc010vli.1_Silent_p.D300D	p.D355D	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	9	2197	+		Ovarian(137;0.0564)	355			Extracellular (Potential).|Cadherin 3.		B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.1065C>T	CCDS10868.1																																																																																				0.592	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2		NM_001793		17	28	0	0	0	0.038395	0	17	28		
CYB5B	80777	broad.mit.edu	37	16	69458658	69458658	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:69458658C>T	ENST00000512062.1	+	1	231	c.60C>T	c.(58-60)gtC>gtT	p.V20V	CYB5B_ENST00000515314.1_Silent_p.V20V|CYB5B_ENST00000307892.8_Silent_p.V24V|CYB5B_ENST00000561792.1_Silent_p.V20V			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	20	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				AGACCTCAGTCACCTATTACC	0.567																																						uc002exg.1		NaN																	0					0						c.(70-72)GTC>GTT		cytochrome b5 outer mitochondrial membrane							91.0	94.0	93.0					16																	69458658		2076	4217	6293	SO:0001819	synonymous_variant	80777				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding	g.chr16:69458658C>T		CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.60C>T	16.37:g.69458658C>T						CYB5B_uc002exf.2_Silent_p.V24V|CYB5B_uc010cfl.1_Silent_p.V24V	p.V24V	NM_030579	NP_085056	O43169	CYB5B_HUMAN			1	161	+		Ovarian(137;0.101)	20			Cytochrome b5 heme-binding.		A8K6B1|Q96CC3|Q9BT35	Silent	SNP	ENST00000512062.1	37	c.72C>T																																																																																					0.567	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256606.2		NM_030579		28	52	0	0	0	0.034045	0	28	52		
TCF25	22980	broad.mit.edu	37	16	89967083	89967083	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:89967083C>G	ENST00000263346.8	+	12	1318	c.1262C>G	c.(1261-1263)tCt>tGt	p.S421C	TCF25_ENST00000263347.7_Missense_Mutation_p.S186C	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	421					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTTGCCTTCTCTGTTCCACTG	0.532																																						uc002fpb.2		NaN																	0					0						c.(1261-1263)TCT>TGT		NULP1							131.0	125.0	127.0					16																	89967083		2198	4300	6498	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89967083C>G	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1262C>G	16.37:g.89967083C>G	ENSP00000263346:p.Ser421Cys					TCF25_uc002fpc.2_Missense_Mutation_p.S186C	p.S421C	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	12	1344	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	421					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1262C>G	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099438	0.76983	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.36	4.41	0.53225	.	0.053081	0.85682	D	0.000000	D	0.84906	0.5576	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88174	0.2866	9	0.87932	D	0	.	13.0793	0.59104	0.0:0.9228:0.0:0.0772	.	186;421	Q9H384;Q9BQ70	.;TCF25_HUMAN	C	421;186	.	ENSP00000263346:S421C	S	+	2	0	TCF25	88494584	1.000000	0.71417	0.864000	0.33941	0.753000	0.42808	7.075000	0.76798	1.281000	0.44480	0.563000	0.77884	TCT		0.532	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2		NM_014972		31	53	0	0	0	0.045705	0	31	53		
DNAH2	146754	broad.mit.edu	37	17	7697658	7697658	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:7697658C>G	ENST00000572933.1	+	49	9116	c.7656C>G	c.(7654-7656)atC>atG	p.I2552M	DNAH2_ENST00000389173.2_Missense_Mutation_p.I2552M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2552	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAACATTATCAACATGACCT	0.592																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7654-7656)ATC>ATG		dynein heavy chain domain 3							77.0	65.0	69.0					17																	7697658		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7697658C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7656C>G	17.37:g.7697658C>G	ENSP00000458355:p.Ile2552Met						p.I2552M	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			48	7670	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2552			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7656C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632277	0.67015	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.36157	1.27	5.83	4.86	0.63082	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.87180	2.865	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.64228	-0.6457	10	0.54805	T	0.06	.	9.5297	0.39187	0.0:0.8445:0.0:0.1555	.	2552	Q9P225	DYH2_HUMAN	M	2552	ENSP00000373825:I2552M	ENSP00000353818:I2552M	I	+	3	3	DNAH2	7638383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.464000	0.45067	2.769000	0.95229	0.655000	0.94253	ATC		0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		29	42	0	0	0	0.041601	0	29	42		
CNTROB	116840	broad.mit.edu	37	17	7843441	7843441	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:7843441G>T	ENST00000563694.1	+	9	2117	c.1192G>T	c.(1192-1194)Gcc>Tcc	p.A398S	CNTROB_ENST00000380255.3_Missense_Mutation_p.A398S|CNTROB_ENST00000380262.3_Missense_Mutation_p.A398S|CNTROB_ENST00000565740.1_Missense_Mutation_p.A398S	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	398	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGCCCAGGCCGCCTGGGAGAC	0.532																																						uc002gjq.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(1192-1194)GCC>TCC		centrobin, centrosomal BRCA2 interacting protein							68.0	77.0	74.0					17																	7843441		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7843441G>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1192G>T	17.37:g.7843441G>T	ENSP00000456335:p.Ala398Ser					CNTROB_uc002gjp.2_Missense_Mutation_p.A398S|CNTROB_uc002gjr.2_Missense_Mutation_p.A300S|CNTROB_uc010vum.1_Missense_Mutation_p.A110S	p.A398S	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			10	2111	+		Prostate(122;0.173)	398			Potential.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1192G>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319572	0.41096	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.44083	0.93;0.93	5.47	4.51	0.55191	.	0.196730	0.35262	N	0.003325	T	0.44705	0.1306	L	0.29908	0.895	0.34088	D	0.660315	D;P;P;D	0.76494	0.999;0.946;0.946;0.993	D;P;P;P	0.85130	0.997;0.687;0.687;0.868	T	0.49351	-0.8949	10	0.09590	T	0.72	-13.1273	8.5315	0.33337	0.079:0.0:0.7698:0.1512	.	398;398;398;398	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	S	398	ENSP00000369614:A398S;ENSP00000369605:A398S	ENSP00000369605:A398S	A	+	1	0	CNTROB	7784166	0.931000	0.31567	0.980000	0.43619	0.155000	0.21991	2.401000	0.44513	1.333000	0.45449	-0.194000	0.12790	GCC		0.532	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1		NM_053051		31	80	1	0	1.06801e-11	0.041601	1.11278e-11	31	80		
PHOSPHO1	162466	broad.mit.edu	37	17	47302012	47302012	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:47302012G>A	ENST00000310544.4	-	3	527	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.R159C|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.R159C			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	134					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	CCGGCGGCGCGCAGCGAGCTC	0.657																																						uc010wlv.1		NaN																	0					0						c.(400-402)CGC>TGC		phosphatase, orphan 1 isoform 2	Choline(DB00122)						14.0	15.0	15.0					17																	47302012		2190	4287	6477	SO:0001583	missense	162466				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302012G>A	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.400C>T	17.37:g.47302012G>A	ENSP00000311925:p.Arg134Cys					PHOSPHO1_uc002ios.2_Missense_Mutation_p.R159C	p.R134C	NM_178500	NP_848595	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	766	-			134					E9PAM0|Q17RU6	Missense_Mutation	SNP	ENST00000310544.4	37	c.400C>T	CCDS11547.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544379	0.65198	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112;ENST00000511066	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.96	3.91	0.45181	HAD-like domain (2);	0.219310	0.45361	D	0.000366	T	0.62258	0.2413	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.64715	-0.6342	10	0.72032	D	0.01	.	10.994	0.47565	0.0:0.0:0.6435:0.3565	.	134;159	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	C	134;159;159;134	ENSP00000311925:R134C;ENSP00000406909:R159C;ENSP00000427694:R159C;ENSP00000426095:R134C	ENSP00000311925:R134C	R	-	1	0	PHOSPHO1	44657011	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.625000	0.54238	2.446000	0.82766	0.313000	0.20887	CGC		0.657	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2				3	6	0	0	0	0.004672	0	3	6		
KIF2B	84643	broad.mit.edu	37	17	51901070	51901070	+	Nonsense_Mutation	SNP	C	C	T	rs543871191	byFrequency	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:51901070C>T	ENST00000268919.4	+	1	832	c.676C>T	c.(676-678)Cga>Tga	p.R226*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	226	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAACCAGCGAGAGACAAC	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		19824	0.0		0.0	False		,,,				2504	0.002					uc002iua.2		NaN																	0				ovary(5)|skin(3)	8						c.(676-678)CGA>TGA		kinesin family member 2B							99.0	83.0	88.0					17																	51901070		2203	4300	6503	SO:0001587	stop_gained	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901070C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.676C>T	17.37:g.51901070C>T	ENSP00000268919:p.Arg226*					uc010wna.1_RNA	p.R226*	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	832	+			226			Kinesin-motor.		Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	ENST00000268919.4	37	c.676C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365537	0.95900	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	.	.	.	5.52	2.12	0.27331	.	0.484231	0.16808	N	0.198692	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.0487	0.30564	0.4756:0.4495:0.0:0.0749	.	.	.	.	X	226;149	.	ENSP00000268919:R226X	R	+	1	2	KIF2B	49256069	0.470000	0.25854	0.399000	0.26333	0.851000	0.48451	0.739000	0.26173	0.215000	0.20761	-0.169000	0.13324	CGA		0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1		NM_032559		20	33	0	0	0	0.049695	0	20	33		
ABCA9	10350	broad.mit.edu	37	17	66972297	66972297	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:66972297G>T	ENST00000340001.4	-	38	4966	c.4755C>A	c.(4753-4755)ctC>ctA	p.L1585L	ABCA9_ENST00000453985.2_Silent_p.L1547L|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1585					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGACTGTGAGAGGCTGTACT	0.403																																						uc002jhu.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4753-4755)CTC>CTA		ATP-binding cassette, sub-family A, member 9							95.0	88.0	90.0					17																	66972297		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66972297G>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4755C>A	17.37:g.66972297G>T						ABCA9_uc010dez.2_Silent_p.L1547L	p.L1585L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			38	4898	-	Breast(10;1.47e-12)		1585					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4755C>A	CCDS11681.1																																																																																				0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386		21	63	1	0	3.8784e-16	0.062417	4.14014e-16	21	63		
ACTG1	71	broad.mit.edu	37	17	79477994	79477994	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:79477994T>C	ENST00000575842.1	-	4	1369	c.943A>G	c.(943-945)Aag>Gag	p.K315E	ACTG1_ENST00000575087.1_Missense_Mutation_p.K315E|ACTG1_ENST00000331925.2_Missense_Mutation_p.K315E|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.K315E			P63261	ACTG_HUMAN	actin, gamma 1	315					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GTGATCTCCTTCTGCATCCTG	0.632																																						uc002kaj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(943-945)AAG>GAG		actin, gamma 1 propeptide							62.0	60.0	61.0					17																	79477994		2203	4300	6503	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79477994T>C		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.943A>G	17.37:g.79477994T>C	ENSP00000458162:p.Lys315Glu					ACTG1_uc002kah.1_Missense_Mutation_p.K193E|ACTG1_uc002kai.1_Missense_Mutation_p.K272E|ACTG1_uc002kak.1_Missense_Mutation_p.K315E|ACTG1_uc010wun.1_Missense_Mutation_p.K315E|ACTG1_uc002kal.1_Missense_Mutation_p.K315E|ACTG1_uc002kag.2_RNA	p.K315E	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		4	968	-	all_neural(118;0.0878)|Melanoma(429;0.242)		315					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.943A>G	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	t	15.12	2.738343	0.49045	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94793	-3.52	3.81	2.74	0.32292	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96048	3.76	0.43271	D	0.995222	B	0.02656	0.0	B	0.06405	0.002	D	0.92201	0.5768	10	0.87932	D	0	.	8.1884	0.31352	0.0:0.099:0.0:0.901	.	315	P63261	ACTG_HUMAN	E	315;273	ENSP00000331514:K315E	ENSP00000331514:K315E	K	-	1	0	ACTG1	77092589	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.467000	0.80930	0.562000	0.29204	0.525000	0.51046	AAG		0.632	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2		NM_001614		36	66	0	0	0	0.064281	0	36	66		
NPLOC4	55666	broad.mit.edu	37	17	79534448	79534448	+	Missense_Mutation	SNP	G	G	C	rs374288121		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:79534448G>C	ENST00000331134.6	-	15	1776	c.1561C>G	c.(1561-1563)Ctg>Gtg	p.L521V	NPLOC4_ENST00000572760.1_5'Flank|NPLOC4_ENST00000573876.1_5'Flank|NPLOC4_ENST00000539314.1_Missense_Mutation_p.L360V|NPLOC4_ENST00000374747.5_Missense_Mutation_p.L521V	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	521					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCACCTGCAGAGGCATAACT	0.502																																						uc002kat.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1561-1563)CTG>GTG		nuclear protein localization 4							88.0	83.0	85.0					17																	79534448		2007	4190	6197	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79534448G>C	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1561C>G	17.37:g.79534448G>C	ENSP00000331487:p.Leu521Val					NPLOC4_uc002kau.3_Missense_Mutation_p.L521V|NPLOC4_uc010wur.1_Missense_Mutation_p.L360V|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_Silent_p.L44L	p.L521V	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		15	1743	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		521					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1561C>G	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885364	0.72410	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.83	5.83	0.93111	Nuclear pore localisation protein NPL4 (1);	0.152963	0.44483	D	0.000443	T	0.59115	0.2170	L	0.48362	1.52	0.80722	D	1	B;B;B	0.26400	0.051;0.122;0.148	B;B;B	0.37833	0.259;0.117;0.186	T	0.55224	-0.8174	9	0.31617	T	0.26	-17.4075	10.2217	0.43201	0.1473:0.0:0.8527:0.0	.	360;521;521	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	V	521;520;360	.	ENSP00000331487:L521V	L	-	1	2	NPLOC4	77144886	1.000000	0.71417	0.978000	0.43139	0.834000	0.47266	5.124000	0.64709	2.769000	0.95229	0.655000	0.94253	CTG		0.502	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1				8	11	0	0	0	0.038147	0	8	11		
CCDC178	374864	broad.mit.edu	37	18	30554631	30554631	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:30554631C>G	ENST00000383096.3	-	22	2585	c.2403G>C	c.(2401-2403)caG>caC	p.Q801H	CCDC178_ENST00000403303.1_Missense_Mutation_p.Q801H|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q751H|CCDC178_ENST00000583930.1_Missense_Mutation_p.Q825H|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q801H|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q825H|CCDC178_ENST00000579916.1_Missense_Mutation_p.Q121H|CCDC178_ENST00000581852.1_Missense_Mutation_p.Q6H|CCDC178_ENST00000300227.8_Missense_Mutation_p.Q763H			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	801																	GCATCCTTCTCTGCAGCTGAC	0.502																																						uc002kxn.2		NaN																	0				ovary(1)	1						c.(2401-2403)CAG>CAC		hypothetical protein LOC374864 isoform 1							50.0	45.0	47.0					18																	30554631		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30554631C>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2403G>C	18.37:g.30554631C>G	ENSP00000372576:p.Gln801His					C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.Q265H|C18orf34_uc010xbr.1_Missense_Mutation_p.Q825H|C18orf34_uc010dmf.1_Missense_Mutation_p.Q121H|C18orf34_uc002kxo.2_Missense_Mutation_p.Q763H|C18orf34_uc002kxp.2_Missense_Mutation_p.Q801H	p.Q801H	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			21	2545	-			801					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2403G>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	3.710	-0.059745	0.07317	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.38722	1.76;1.76;1.87;1.12;2.1	5.59	1.82	0.25136	.	.	.	.	.	T	0.53126	0.1777	L	0.43152	1.355	0.26262	N	0.978565	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	0.85130	0.994;0.994;0.997;0.994;0.994;0.994	T	0.42982	-0.9419	9	0.72032	D	0.01	-21.4988	9.4036	0.38449	0.0:0.411:0.0:0.589	.	825;801;751;801;763;801	F8W7A7;A1L4G8;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;.;CR034_HUMAN	H	801;801;763;825;751	ENSP00000385591:Q801H;ENSP00000372576:Q801H;ENSP00000300227:Q763H;ENSP00000385867:Q825H;ENSP00000385234:Q751H	ENSP00000300227:Q763H	Q	-	3	2	C18orf34	28808629	0.985000	0.35326	0.983000	0.44433	0.661000	0.39034	0.118000	0.15605	0.059000	0.16252	0.563000	0.77884	CAG		0.502	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2		NM_198995		16	16	0	0	0	0.024245	0	16	16		
EPG5	57724	broad.mit.edu	37	18	43534669	43534669	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:43534669C>G	ENST00000282041.5	-	2	733	c.699G>C	c.(697-699)gtG>gtC	p.V233V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	233					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.V233V(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCAAGGGTTTCACTGCCACCA	0.483																																						uc002lbm.2		NaN																	1	Substitution - coding silent(1)		breast(1)		0						c.(697-699)GTG>GTC		hypothetical protein LOC57724							62.0	65.0	64.0					18																	43534669		2154	4279	6433	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43534669C>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.699G>C	18.37:g.43534669C>G						KIAA1632_uc002lbo.1_Silent_p.V233V	p.V233V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			2	799	-			233					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.699G>C	CCDS11926.2																																																																																				0.483	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964		41	30	0	0	0	0.09836	0	41	30		
EPG5	57724	broad.mit.edu	37	18	43535299	43535299	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:43535299C>G	ENST00000282041.5	-	2	103	c.69G>C	c.(67-69)aaG>aaC	p.K23N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	23					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CATACTTCTTCTTTTCCTAAA	0.353																																						uc002lbm.2		NaN																	0					0						c.(67-69)AAG>AAC		hypothetical protein LOC57724							41.0	37.0	38.0					18																	43535299		1815	4080	5895	SO:0001583	missense	57724				autophagy			g.chr18:43535299C>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.69G>C	18.37:g.43535299C>G	ENSP00000282041:p.Lys23Asn					KIAA1632_uc002lbo.1_Missense_Mutation_p.K23N	p.K23N	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			2	169	-			23					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.69G>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270444	0.59540	.	.	ENSG00000152223	ENST00000282041	T	0.16324	2.35	5.9	5.03	0.67393	.	0.629667	0.16678	N	0.204042	T	0.27697	0.0681	L	0.27053	0.805	0.27758	N	0.943936	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.06972	-1.0797	10	0.66056	D	0.02	-23.2848	10.0653	0.42299	0.0:0.7993:0.0:0.2007	.	23;23	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	N	23	ENSP00000282041:K23N	ENSP00000282041:K23N	K	-	3	2	EPG5	41789297	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.901000	0.28445	1.493000	0.48517	0.563000	0.77884	AAG		0.353	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964		12	12	0	0	0	0.080935	0	12	12		
DAPK3	1613	broad.mit.edu	37	19	3959237	3959237	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:3959237G>A	ENST00000545797.2	-	9	1470	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Silent_p.L409L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	409					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGGCGCTTGAGGCCGCTGG	0.701																																						uc002lzc.1		NaN																	0				central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(1225-1227)CTC>CTT		death-associated protein kinase 3							11.0	12.0	12.0					19																	3959237		2190	4274	6464	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3959237G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.1227C>T	19.37:g.3959237G>A						DAPK3_uc002lzb.1_Silent_p.L146L|DAPK3_uc002lzd.1_Silent_p.L409L	p.L409L	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1320	-		Hepatocellular(1079;0.137)	409			Interaction with CDC5L (By similarity).		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.1227C>T	CCDS12116.1																																																																																				0.701	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2		NM_001348		8	9	0	0	0	0.047766	0	8	9		
ADAMTS10	81794	broad.mit.edu	37	19	8661877	8661877	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:8661877A>G	ENST00000597188.1	-	8	1304	c.1034T>C	c.(1033-1035)aTc>aCc	p.I345T	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.I345T	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	345	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCACCGTGTGATGAGCACTGC	0.537																																						uc002mkj.1		NaN																	0				pancreas(2)|skin(2)	4						c.(1033-1035)ATC>ACC		ADAM metallopeptidase with thrombospondin type 1							81.0	69.0	73.0					19																	8661877		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661877A>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1034T>C	19.37:g.8661877A>G	ENSP00000471851:p.Ile345Thr					ADAMTS10_uc002mkk.1_5'UTR	p.I345T	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			8	1308	-			345			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1034T>C	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141979	0.77775	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.66815	-0.23	5.22	5.22	0.72569	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	U	0.000000	D	0.83087	0.5178	M	0.87682	2.9	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.86456	0.1776	10	0.87932	D	0	.	14.2701	0.66147	1.0:0.0:0.0:0.0	.	345	Q9H324	ATS10_HUMAN	T	345;99	ENSP00000270328:I345T	ENSP00000270328:I345T	I	-	2	0	ADAMTS10	8567877	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.852000	0.92215	1.956000	0.56807	0.460000	0.39030	ATC		0.537	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957		27	62	0	0	0	0.108266	0	27	62		
WDR83OS	51398	broad.mit.edu	37	19	12780451	12780451	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:12780451G>C	ENST00000596731.1	-	0	1719				MAN2B1_ENST00000456935.2_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83_ENST00000418543.3_Intron|WDR83OS_ENST00000600694.1_5'Flank|MAN2B1_ENST00000221363.4_5'Flank|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83_ENST00000242796.4_5'Flank	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand							integral component of membrane (GO:0016021)											GTTCCAACCCGATCACCGAAA	0.458																																						uc002mud.2		NaN																	0					0						c.(-235--231)ATCGG>ATGGG		hypothetical protein LOC51398																																						51398					integral to membrane		g.chr19:12780451G>C	AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 56"""	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.-234C>G	19.37:g.12780451G>C						MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_Intron|WDR83_uc002muc.2_Intron|WDR83_uc010dyw.2_5'Flank		NM_016145	NP_057229	Q9Y284	CS056_HUMAN			1	15	-								B2R4T8|Q9BVI3	Translation_Start_Site	SNP	ENST00000596731.1	37	c.-233C>G	CCDS12274.1																																																																																				0.458	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462702.1		NM_016145		3	4	0	0	0	0.004672	0	3	4		
WDR83	84292	broad.mit.edu	37	19	12780828	12780828	+	Silent	SNP	G	G	A	rs377237181		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:12780828G>A	ENST00000418543.3	+	4	490	c.141G>A	c.(139-141)aaG>aaA	p.K47K	WDR83OS_ENST00000222190.5_5'Flank|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83_ENST00000242796.4_Silent_p.K47K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	47					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GCAGTGACAAGACGCTGAAGC	0.677																																						uc002mue.3		NaN																	0				lung(1)|breast(1)	2						c.(139-141)AAG>AAA		mitogen-activated protein kinase organizer 1							61.0	67.0	65.0					19																	12780828		2203	4300	6503	SO:0001819	synonymous_variant	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780828G>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.141G>A	19.37:g.12780828G>A						WDR83_uc002muc.2_RNA|C19orf56_uc002mud.2_5'Flank|WDR83_uc010dyw.2_Silent_p.K47K	p.K47K	NM_001099737	NP_001093207	Q9BRX9	WDR83_HUMAN			4	476	+			47			WD 1.		B2RAF1|Q53FT6	Silent	SNP	ENST00000418543.3	37	c.141G>A	CCDS12275.1																																																																																				0.677	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1		NM_032332		40	96	0	0	0	0.074837	0	40	96		
NACC1	112939	broad.mit.edu	37	19	13246039	13246039	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:13246039G>C	ENST00000292431.4	+	2	144	c.18G>C	c.(16-18)caG>caC	p.Q6H	AC005546.2_ENST00000591837.1_lincRNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	6					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						AGACACTGCAGATGGAGATCC	0.627																																						uc002mwm.2		NaN																	0					0						c.(16-18)CAG>CAC		transcriptional repressor NAC1							36.0	32.0	33.0					19																	13246039		2203	4300	6503	SO:0001583	missense	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246039G>C	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.18G>C	19.37:g.13246039G>C	ENSP00000292431:p.Gln6His						p.Q6H	NM_052876	NP_443108	Q96RE7	NACC1_HUMAN			2	186	+			6						Missense_Mutation	SNP	ENST00000292431.4	37	c.18G>C	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459626	0.12342	.	.	ENSG00000160877	ENST00000292431	T	0.21734	1.99	4.99	2.82	0.32997	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.04090	-0.28	0.38639	D	0.951577	B	0.28760	0.221	B	0.26969	0.075	T	0.25984	-1.0116	10	0.05721	T	0.95	.	9.5633	0.39383	0.1748:0.0:0.8252:0.0	.	6	Q96RE7	NACC1_HUMAN	H	6	ENSP00000292431:Q6H	ENSP00000292431:Q6H	Q	+	3	2	NACC1	13107039	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.484000	0.35508	0.521000	0.28445	0.650000	0.86243	CAG		0.627	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1		NM_052876		13	38	0	0	0	0.105934	0	13	38		
ZNF492	57615	broad.mit.edu	37	19	22847622	22847622	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:22847622A>C	ENST00000456783.2	+	4	1395	c.1151A>C	c.(1150-1152)aAg>aCg	p.K384T	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTACACATAAGAGAATTCAT	0.378																																						uc002nqw.3		NaN																	0					0						c.(1150-1152)AAG>ACG		zinc finger protein 492							14.0	15.0	14.0					19																	22847622		1567	3571	5138	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847622A>C	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1151A>C	19.37:g.22847622A>C	ENSP00000413660:p.Lys384Thr						p.K384T	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1395	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	384			C2H2-type 9.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1151A>C	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	11.11	1.543600	0.27563	.	.	ENSG00000229676	ENST00000456783	T	0.07327	3.2	1.12	-2.25	0.06888	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12475	0.0303	L	0.28556	0.865	0.09310	N	1	D	0.71674	0.998	D	0.70016	0.967	T	0.26950	-1.0088	9	0.87932	D	0	.	4.1507	0.10237	0.699:0.0:0.0:0.3009	.	384	Q9P255	ZN492_HUMAN	T	384	ENSP00000413660:K384T	ENSP00000413660:K384T	K	+	2	0	ZNF492	22639462	0.000000	0.05858	0.031000	0.17742	0.031000	0.12232	-1.552000	0.02176	0.231000	0.21079	0.228000	0.17796	AAG		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1		NM_020855		16	52	0	0	0	0.069288	0	16	52		
MAP4K1	11184	broad.mit.edu	37	19	39098807	39098807	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:39098807C>T	ENST00000591517.1	-	14	1038	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R333Q|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R337Q|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	337					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCATGTGCCGCCCTAGGGT	0.602																																						uc002oix.1		NaN																	0				skin(4)|lung(3)|ovary(1)	8						c.(1009-1011)CGG>CAG		mitogen-activated protein kinase kinase kinase							27.0	30.0	29.0					19																	39098807		2005	4172	6177	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39098807C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1010G>A	19.37:g.39098807C>T	ENSP00000465039:p.Arg337Gln					MAP4K1_uc002oiw.1_5'Flank|MAP4K1_uc002oiy.1_Missense_Mutation_p.R337Q|MAP4K1_uc010xug.1_5'UTR	p.R337Q	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		14	1118	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		337						Missense_Mutation	SNP	ENST00000591517.1	37	c.1010G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.307180	0.23821	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.72282	-0.64	3.94	2.9	0.33743	Protein kinase-like domain (1);	0.713479	0.12878	N	0.431665	T	0.51398	0.1672	N	0.24115	0.695	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.001	T	0.46665	-0.9175	10	0.22109	T	0.4	.	6.8507	0.24012	0.0:0.875:0.0:0.125	.	337;337	Q92918-2;Q92918	.;M4K1_HUMAN	Q	337	ENSP00000380066:R337Q	ENSP00000221409:R337Q	R	-	2	0	MAP4K1	43790647	0.998000	0.40836	0.995000	0.50966	0.882000	0.50991	1.250000	0.32850	2.221000	0.72209	0.558000	0.71614	CGG		0.602	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1		NM_001042600		9	25	0	0	0	0.069234	0	9	25		
MED29	55588	broad.mit.edu	37	19	39883109	39883109	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:39883109G>C	ENST00000599213.2	+	2	249	c.222G>C	c.(220-222)ttG>ttC	p.L74F	MED29_ENST00000315588.5_Missense_Mutation_p.L95F|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.L74F|PAF1_ENST00000221266.7_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29	74	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACTAGACCTTGATGAAGGTTG	0.433																																						uc002olf.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(283-285)TTG>TTC		mediator complex subunit 29							112.0	109.0	110.0					19																	39883109		2203	4300	6503	SO:0001583	missense	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39883109G>C	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.222G>C	19.37:g.39883109G>C	ENSP00000471802:p.Leu74Phe					PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.L95F|MED29_uc010xux.1_Intron	p.L95F	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		2	322	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		74			Gln-rich.		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.285G>C		.	.	.	.	.	.	.	.	.	.	G	16.00	2.997944	0.54147	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.43	3.39	0.38822	.	0.164727	0.39020	N	0.001494	T	0.58921	0.2156	L	0.44542	1.39	0.37756	D	0.926157	D;D	0.89917	1.0;0.993	D;D	0.77557	0.99;0.94	T	0.62520	-0.6837	9	0.62326	D	0.03	-26.1584	5.7893	0.18351	0.1059:0.1989:0.6952:0.0	.	74;95	Q9NX70;B4DUA7	MED29_HUMAN;.	F	95;13	.	ENSP00000314343:L95F	L	+	3	2	MED29	44574949	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.293000	0.33353	1.062000	0.40625	0.563000	0.77884	TTG		0.433	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1		XM_290829		23	46	0	0	0	0.076483	0	23	46		
PNMAL2	57469	broad.mit.edu	37	19	46998146	46998146	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:46998146C>T	ENST00000377655.2	-	1	576	c.577G>A	c.(577-579)Gag>Aag	p.E193K	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.E193K|AC011484.1_ENST00000377652.3_Missense_Mutation_p.S86L			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	193										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCTCGGCCTCACTCCTCGCG	0.647																																						uc002pes.2		NaN																	0				central_nervous_system(1)	1						c.(577-579)GAG>AAG		PNMA-like 2							54.0	52.0	53.0					19																	46998146		2203	4300	6503	SO:0001583	missense	57469							g.chr19:46998146C>T	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.577G>A	19.37:g.46998146C>T	ENSP00000366883:p.Glu193Lys					uc002peu.1_Missense_Mutation_p.S86L	p.E193K	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1024	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	193					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.577G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.51|16.51	3.144322|3.144322	0.57044|0.57044	.|.	.|.	ENSG00000204851|ENSG00000204850	ENST00000377655|ENST00000377652	T|.	0.25085|.	1.82|.	2.49|2.49	1.45|1.45	0.22620|0.22620	.|.	.|.	.|.	.|.	.|.	T|T	0.21801|0.21801	0.0525|0.0525	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P|B	0.48694|0.28850	0.914|0.225	P|B	0.49451|0.28849	0.611|0.095	T|T	0.22941|0.22941	-1.0202|-1.0202	9|8	0.18276|0.87932	T|D	0.48|0	-4.594|-4.594	5.2886|5.2886	0.15716|0.15716	0.0:0.8348:0.0:0.1652|0.0:0.8348:0.0:0.1652	.|.	193|86	Q9ULN7|Q6ZVU4	PNML2_HUMAN|.	K|L	193|86	ENSP00000366883:E193K|.	ENSP00000366883:E193K|ENSP00000366880:S86L	E|S	-|+	1|2	0|0	PNMAL2|AC011484.1	51689986|51689986	0.007000|0.007000	0.16637|0.16637	0.003000|0.003000	0.11579|0.11579	0.022000|0.022000	0.10575|0.10575	1.743000|1.743000	0.38258|0.38258	0.606000|0.606000	0.29965|0.29965	0.491000|0.491000	0.48974|0.48974	GAG|TCA		0.647	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding			NM_020709		20	37	0	0	0	0.043863	0	20	37		
KCNC3	3748	broad.mit.edu	37	19	50826951	50826951	+	Missense_Mutation	SNP	C	C	T	rs104894699		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:50826951C>T	ENST00000477616.1	-	2	1553	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.R420H	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	420			R -> H (in SCA13; loss of channel activity). {ECO:0000269|PubMed:16501573}.		cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GCGCAGGATGCGGACGAAGCG	0.657																																					Melanoma(91;1496 2324 50908)	uc002pru.1		NaN																	0				pancreas(1)	1	GRCh37	CM061075	KCNC3	M	rs104894699	c.(1258-1260)CGC>CAC		Shaw-related voltage-gated potassium channel							72.0	71.0	72.0					19																	50826951		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50826951C>T	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1259G>A	19.37:g.50826951C>T	ENSP00000434241:p.Arg420His					KCNC3_uc002prt.1_Missense_Mutation_p.R56H	p.R420H	NM_004977	NP_004968	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	1554	-		all_neural(266;0.057)|Ovarian(192;0.208)	420		R -> H (in SCA13; loss of channel activity).	Helical; Voltage-sensor; Name=Segment S4; (Potential).			Missense_Mutation	SNP	ENST00000477616.1	37	c.1259G>A	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.589955	0.86851	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.99591	-6.24;-6.24	3.04	3.04	0.35103	Ion transport (1);	0.000000	0.64402	U	0.000010	D	0.99591	0.9852	M	0.88450	2.955	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97817	1.0254	9	0.87932	D	0	.	13.3189	0.60423	0.0:1.0:0.0:0.0	.	420;420	Q14003;E7ETH1	KCNC3_HUMAN;.	H	420;420;234	ENSP00000366158:R420H;ENSP00000434241:R420H	ENSP00000366158:R420H	R	-	2	0	KCNC3	55518763	1.000000	0.71417	0.566000	0.28421	0.969000	0.65631	7.506000	0.81665	1.723000	0.51488	0.486000	0.48141	CGC		0.657	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2		NM_004977		12	44	0	0	0	0.020292	0	12	44		
LILRA4	23547	broad.mit.edu	37	19	54849825	54849825	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:54849825G>C	ENST00000291759.4	-	3	253	c.197C>G	c.(196-198)tCa>tGa	p.S66*	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	66	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTCGACATTGAGTTTCCCTC	0.532																																						uc002qfj.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(196-198)TCA>TGA		leukocyte immunoglobulin-like receptor subfamily							197.0	154.0	168.0					19																	54849825		2203	4300	6503	SO:0001587	stop_gained	23547					integral to membrane	receptor activity	g.chr19:54849825G>C	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.197C>G	19.37:g.54849825G>C	ENSP00000291759:p.Ser66*					LILRA4_uc002qfi.2_5'UTR	p.S66*	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	254	-	Ovarian(34;0.19)		66			Ig-like C2-type 1.|Extracellular (Potential).		Q32MC4	Nonsense_Mutation	SNP	ENST00000291759.4	37	c.197C>G	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901668	0.33535	.	.	ENSG00000239961	ENST00000291759	.	.	.	2.5	-2.4	0.06583	.	2.220440	0.01922	N	0.040548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.9135	0.13835	0.0:0.1895:0.2936:0.5169	.	.	.	.	X	66	.	ENSP00000291759:S66X	S	-	2	0	LILRA4	59541637	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.497000	0.02289	-0.368000	0.08040	0.557000	0.71058	TCA		0.532	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2		NM_012276		40	110	0	0	0	0.104719	0	40	110		
ZNF543	125919	broad.mit.edu	37	19	57840563	57840563	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:57840563C>T	ENST00000321545.4	+	4	2078	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	578					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)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		GCACAGACTTCAGTCAACATC	0.423																																						uc002qoi.1		NaN																	0				skin(1)|pancreas(1)	2						c.(1732-1734)TCA>TTA		zinc finger protein 543							79.0	76.0	77.0					19																	57840563		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840563C>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1733C>T	19.37:g.57840563C>T	ENSP00000322545:p.Ser578Leu						p.S578L	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	2078	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	578					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1733C>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.740537	0.00675	.	.	ENSG00000178229	ENST00000321545	T	0.06449	3.3	2.42	1.34	0.21922	.	.	.	.	.	T	0.00967	0.0032	N	0.00068	-2.285	0.09310	N	1	B	0.20887	0.049	B	0.17433	0.018	T	0.45279	-0.9272	9	0.02654	T	1	.	4.7292	0.12955	0.22:0.6522:0.0:0.1278	.	578	Q08ER8	ZN543_HUMAN	L	578	ENSP00000322545:S578L	ENSP00000322545:S578L	S	+	2	0	ZNF543	62532375	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	0.439000	0.21575	0.562000	0.29204	0.462000	0.41574	TCA		0.423	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1		XM_064865		37	62	0	0	0	0.059317	0	37	62		
ASXL2	55252	broad.mit.edu	37	2	25990544	25990544	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:25990544G>C	ENST00000435504.4	-	8	976	c.683C>G	c.(682-684)tCa>tGa	p.S228*	ASXL2_ENST00000497092.1_5'Flank|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S200*|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	228	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGAGTTTGAGTTTTGAGG	0.413																																						uc002rgs.2		NaN																	0				pancreas(1)	1						c.(682-684)TCA>TGA		additional sex combs like 2							147.0	143.0	144.0					2																	25990544		1872	4102	5974	SO:0001587	stop_gained	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25990544G>C			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.683C>G	2.37:g.25990544G>C	ENSP00000391447:p.Ser228*					ASXL2_uc002rgt.1_5'UTR	p.S228*	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			7	904	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		228			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	ENST00000435504.4	37	c.683C>G		.	.	.	.	.	.	.	.	.	.	G	38	6.723274	0.97788	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	.	.	.	5.63	5.63	0.86233	.	0.989793	0.08226	N	0.978306	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.1217	18.2734	0.90076	0.0:0.0:1.0:0.0	.	.	.	.	X	228;200	.	ENSP00000337250:S200X	S	-	2	0	ASXL2	25844048	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	5.304000	0.65744	2.652000	0.90054	0.655000	0.94253	TCA		0.413	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		36	47	0	0	0	0.069456	0	36	47		
NCKAP5	344148	broad.mit.edu	37	2	133542927	133542927	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:133542927G>A	ENST00000409261.1	-	14	1830	c.1457C>T	c.(1456-1458)gCa>gTa	p.A486V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A486V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	486										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGGAGCAATGCTAAGGTGGA	0.498																																						uc002ttp.2		NaN																	0					0						c.(1456-1458)GCA>GTA		Nck-associated protein 5 isoform 1							115.0	115.0	115.0					2																	133542927		2017	4189	6206	SO:0001583	missense	344148						protein binding	g.chr2:133542927G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1457C>T	2.37:g.133542927G>A	ENSP00000387128:p.Ala486Val					NCKAP5_uc002ttq.2_Intron	p.A486V	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	1831	-			486					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1457C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	10.79	1.450386	0.26074	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11930	2.73;2.73	5.38	3.59	0.41128	.	0.547535	0.13711	U	0.368134	T	0.17874	0.0429	L	0.29908	0.895	0.18873	N	0.999983	D	0.61697	0.99	P	0.57152	0.814	T	0.10543	-1.0625	10	0.32370	T	0.25	.	8.7462	0.34587	0.2505:0.0:0.7495:0.0	.	486	O14513	NCKP5_HUMAN	V	486	ENSP00000387128:A486V;ENSP00000380603:A486V	ENSP00000380603:A486V	A	-	2	0	NCKAP5	133259397	0.814000	0.29104	0.024000	0.17045	0.004000	0.04260	2.972000	0.49256	0.836000	0.34901	-0.162000	0.13425	GCA		0.498	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		35	79	0	0	0	0.069456	0	35	79		
LRP1B	53353	broad.mit.edu	37	2	141625828	141625828	+	Missense_Mutation	SNP	G	G	A	rs200955532		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:141625828G>A	ENST00000389484.3	-	26	5145	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1392					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCAGAAAAGAATTCTaaaa	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4174-4176)CTT>TTT		low density lipoprotein-related protein 1B							38.0	38.0	38.0					2																	141625828		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625828G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4174C>T	2.37:g.141625828G>A	ENSP00000374135:p.Leu1392Phe	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.L574F	p.L1392F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	26	5146	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1392			Extracellular (Potential).|LDL-receptor class B 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4174C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360608	0.95877	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97870	-4.58;-4.58	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.98975	0.9651	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99402	1.0928	10	0.66056	D	0.02	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	575;1392	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	F	1392;1330;537	ENSP00000374135:L1392F;ENSP00000413239:L537F	ENSP00000374135:L1392F	L	-	1	0	LRP1B	141342298	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.886000	0.87288	2.770000	0.95276	0.655000	0.94253	CTT		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		10	37	0	0	0	0.038395	0	10	37		
TTN	7273	broad.mit.edu	37	2	179393575	179393575	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:179393575C>T	ENST00000591111.1	-	310	102204	c.101980G>A	c.(101980-101982)Gat>Aat	p.D33994N	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D33067N|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26762N|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D35635N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26695N|TTN_ENST00000460472.2_Missense_Mutation_p.D26570N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587576.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33994	Ig-like 150.				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)			CATTTCACATCAGTGGCACCA	0.453																																						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.(99199-99201)GAT>AAT		titin isoform N2-A							121.0	114.0	116.0					2																	179393575		2007	4182	6189	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393575C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101980G>A	2.37:g.179393575C>T	ENSP00000465570:p.Asp33994Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26762N|TTN_uc010zfi.1_Missense_Mutation_p.D26695N|TTN_uc010zfj.1_Missense_Mutation_p.D26570N|TTN_uc002umq.2_Missense_Mutation_p.D84N	p.D33067N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		309	99423	-			33994					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.99199G>A		.	.	.	.	.	.	.	.	.	.	C	17.43	3.388922	0.61956	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57140	0.2033	N	0.24115	0.695	0.29921	N	0.822771	B;B;B;B;P	0.35433	0.324;0.324;0.324;0.324;0.501	B;B;B;B;B	0.37198	0.243;0.243;0.243;0.243;0.118	T	0.62859	-0.6765	9	0.87932	D	0	.	14.7	0.69150	0.0:0.8551:0.1449:0.0	.	26570;26695;26762;33994;33067	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	N	33067;26570;26762;26695;26567	ENSP00000343764:D33067N;ENSP00000434586:D26570N;ENSP00000340554:D26762N;ENSP00000352154:D26695N	ENSP00000340554:D26762N	D	-	1	0	TTN	179101821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.086000	0.41643	2.608000	0.88229	0.561000	0.74099	GAT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		20	34	0	0	0	0.055883	0	20	34		
TTN	7273	broad.mit.edu	37	2	179430575	179430575	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:179430575C>T	ENST00000591111.1	-	276	75585	c.75361G>A	c.(75361-75363)Gaa>Aaa	p.E25121K	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24194K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17889K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26762K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17822K|TTN_ENST00000460472.2_Missense_Mutation_p.E17697K|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25121	Fibronectin type-III 82. {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)			ACTCCAAATTCATTTTCAGCC	0.433																																						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.(72580-72582)GAA>AAA		titin isoform N2-A							197.0	185.0	189.0					2																	179430575		1934	4151	6085	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430575C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75361G>A	2.37:g.179430575C>T	ENSP00000465570:p.Glu25121Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17889K|TTN_uc010zfi.1_Missense_Mutation_p.E17822K|TTN_uc010zfj.1_Missense_Mutation_p.E17697K	p.E24194K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72804	-			25121					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.72580G>A		.	.	.	.	.	.	.	.	.	.	C	14.68	2.607343	0.46527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.81	4.93	0.64822	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52693	0.1750	L	0.45352	1.415	0.58432	D	0.999999	P;P;P;P	0.48350	0.909;0.909;0.909;0.763	P;P;P;B	0.45343	0.477;0.477;0.477;0.257	T	0.58847	-0.7564	9	0.87932	D	0	.	17.1268	0.86716	0.0:0.8737:0.1263:0.0	.	17697;17822;17889;25121	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24194;17697;17889;17822;17695	ENSP00000343764:E24194K;ENSP00000434586:E17697K;ENSP00000340554:E17889K;ENSP00000352154:E17822K	ENSP00000340554:E17889K	E	-	1	0	TTN	179138821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	1.439000	0.47511	0.555000	0.69702	GAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		73	187	0	0	0	0.048971	0	73	187		
IKZF2	22807	broad.mit.edu	37	2	213872226	213872226	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:213872226A>G	ENST00000434687.1	-	9	1748	c.1439T>C	c.(1438-1440)tTc>tCc	p.F480S	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Missense_Mutation_p.F454S|IKZF2_ENST00000421754.2_Missense_Mutation_p.F406S|IKZF2_ENST00000451136.2_Missense_Mutation_p.F408S|IKZF2_ENST00000457361.1_Missense_Mutation_p.F480S|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.F335S|IKZF2_ENST00000342002.2_Missense_Mutation_p.F486S			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	480					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATGGTCTAGGAAAAGGACTCG	0.512																																						uc002vem.2		NaN																	0					0						c.(1438-1440)TTC>TCC		helios isoform 1							172.0	161.0	165.0					2																	213872226		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872226A>G	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1439T>C	2.37:g.213872226A>G	ENSP00000412869:p.Phe480Ser					IKZF2_uc010fuu.2_Missense_Mutation_p.F335S|IKZF2_uc002vej.2_Missense_Mutation_p.F427S|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.F406S|IKZF2_uc002vel.2_Missense_Mutation_p.F401S|IKZF2_uc010fuw.2_Missense_Mutation_p.F254S|IKZF2_uc010fux.2_Missense_Mutation_p.F254S|IKZF2_uc010fuy.2_Missense_Mutation_p.F408S|IKZF2_uc002ven.2_Missense_Mutation_p.F454S|IKZF2_uc002vei.2_Missense_Mutation_p.F258S	p.F480S	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1608	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	480			C2H2-type 5.		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.1439T>C	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687115	0.68157	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	D	0.86723	0.6001	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.996;0.994;0.998;0.999;0.993;0.996	D	0.89218	0.3569	10	0.87932	D	0	-6.1418	16.1926	0.82004	1.0:0.0:0.0:0.0	.	408;406;335;454;480;258	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	S	480;486;480;454;408;406;335;184	ENSP00000410447:F480S;ENSP00000342876:F486S;ENSP00000412869:F480S;ENSP00000363439:F454S;ENSP00000395203:F408S;ENSP00000399574:F406S;ENSP00000363447:F335S	ENSP00000342876:F486S	F	-	2	0	IKZF2	213580471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.265000	0.95647	2.219000	0.72066	0.533000	0.62120	TTC		0.512	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3		NM_016260		19	119	0	0	0	0.055883	0	19	119		
RNPEPL1	57140	broad.mit.edu	37	2	241514466	241514466	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:241514466G>T	ENST00000270357.4	+	7	1208	c.615G>T	c.(613-615)ctG>ctT	p.L205L	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	205					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCAGCCACCTGATGAACCTGT	0.587																																						uc002vzi.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(613-615)CTG>CTT		arginyl aminopeptidase (aminopeptidase B)-like							189.0	171.0	177.0					2																	241514466		2203	4300	6503	SO:0001819	synonymous_variant	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241514466G>T			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.615G>T	2.37:g.241514466G>T						RNPEPL1_uc010fzf.2_Silent_p.L111L|RNPEPL1_uc002vzj.2_5'Flank	p.L205L	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	7	1208	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	205					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	ENST00000270357.4	37	c.615G>T																																																																																					0.587	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4		NM_018226		15	112	1	0	3.41278e-10	0.0333	3.51375e-10	15	112		
KCNB1	3745	broad.mit.edu	37	20	48098781	48098781	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:48098781G>A	ENST00000371741.4	-	1	403	c.237C>T	c.(235-237)gaC>gaT	p.D79D		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	79					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.D79D(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACTCGTTGTCGTCGAGGCTGT	0.647																																						uc002xur.1		NaN																	1	Substitution - coding silent(1)		prostate(1)	pancreas(1)|skin(1)	2						c.(235-237)GAC>GAT		potassium voltage-gated channel, Shab-related							41.0	33.0	35.0					20																	48098781		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098781G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.237C>T	20.37:g.48098781G>A						KCNB1_uc002xus.1_Silent_p.D79D	p.D79D	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	401	-			79			Cytoplasmic (Potential).		Q14193	Silent	SNP	ENST00000371741.4	37	c.237C>T	CCDS13418.1																																																																																				0.647	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3		NM_004975		16	21	0	0	0	0.028581	0	16	21		
NFATC2	4773	broad.mit.edu	37	20	50051848	50051848	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:50051848T>C	ENST00000396009.3	-	8	2128	c.1909A>G	c.(1909-1911)Atg>Gtg	p.M637V	NFATC2_ENST00000414705.1_Missense_Mutation_p.M617V|NFATC2_ENST00000371564.3_Missense_Mutation_p.M637V|NFATC2_ENST00000609507.1_Missense_Mutation_p.M418V|NFATC2_ENST00000610033.1_Missense_Mutation_p.M418V|NFATC2_ENST00000609943.1_Missense_Mutation_p.M617V	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	637					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)					ACAAAAAGCATGTTCTATAAG	0.453																																						uc002xwd.2		NaN																	0				ovary(2)	2						c.(1909-1911)ATG>GTG		nuclear factor of activated T-cells,							188.0	176.0	180.0					20																	50051848		2203	4300	6503	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.chr20:50051848T>C	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.1909A>G	20.37:g.50051848T>C	ENSP00000379330:p.Met637Val					NFATC2_uc002xwc.2_Missense_Mutation_p.M637V|NFATC2_uc010zyv.1_Missense_Mutation_p.M418V|NFATC2_uc010zyw.1_Missense_Mutation_p.M418V|NFATC2_uc010zyx.1_Missense_Mutation_p.M617V|NFATC2_uc010zyy.1_Missense_Mutation_p.M418V|NFATC2_uc010zyz.1_Missense_Mutation_p.M418V|NFATC2_uc002xwe.2_Missense_Mutation_p.M617V	p.M637V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			8	2129	-	Hepatocellular(150;0.248)		637					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1909A>G	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306218	0.60305	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.75704	-0.96;-0.96;-0.96	5.06	5.06	0.68205	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78691	0.4323	L	0.44542	1.39	0.53688	D	0.999971	P;P;P;P	0.52316	0.902;0.836;0.952;0.952	P;P;P;P	0.57720	0.465;0.826;0.63;0.63	T	0.78848	-0.2042	10	0.44086	T	0.13	-26.6042	15.1192	0.72429	0.0:0.0:0.0:1.0	.	617;617;637;637	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	V	637;637;617	ENSP00000360619:M637V;ENSP00000379330:M637V;ENSP00000396471:M617V	ENSP00000360619:M637V	M	-	1	0	NFATC2	49485255	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.789000	0.69029	2.032000	0.59987	0.533000	0.62120	ATG		0.453	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340		51	103	0	0	0	0.048971	0	51	103		
SRMS	6725	broad.mit.edu	37	20	62173828	62173828	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:62173828C>T	ENST00000217188.1	-	4	792	c.752G>A	c.(751-753)gGc>gAc	p.G251D		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGCAGGGAGCCCAGCCACAG	0.672																																						uc002yfi.1		NaN																	0				stomach(1)|lung(1)	2						c.(751-753)GGC>GAC		src-related kinase lacking C-terminal regulatory							62.0	51.0	55.0					20																	62173828		2201	4296	6497	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62173828C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.752G>A	20.37:g.62173828C>T	ENSP00000217188:p.Gly251Asp						p.G251D	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		4	793	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		251			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.752G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018257	0.35606	.	.	ENSG00000125508	ENST00000217188	T	0.10192	2.9	4.97	0.658	0.17855	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.210738	0.31709	N	0.007184	T	0.07503	0.0189	L	0.37897	1.145	0.09310	N	1	B	0.20368	0.044	B	0.24006	0.05	T	0.24548	-1.0157	10	0.51188	T	0.08	.	3.9534	0.09379	0.0:0.4138:0.1792:0.407	.	251	Q9H3Y6	SRMS_HUMAN	D	251	ENSP00000217188:G251D	ENSP00000217188:G251D	G	-	2	0	SRMS	61644272	1.000000	0.71417	0.672000	0.29872	0.829000	0.46940	1.550000	0.36223	0.471000	0.27319	0.561000	0.74099	GGC		0.672	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1		NM_080823		10	24	0	0	0	0.080935	0	10	24		
RWDD2B	10069	broad.mit.edu	37	21	30380387	30380387	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:30380387G>A	ENST00000493196.1	-	4	520	c.420C>T	c.(418-420)ttC>ttT	p.F140F	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	140	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GTTTTTGCAGGAATGCAGTCA	0.398																																						uc002yms.2		NaN																	0					0						c.(418-420)TTC>TTT		RWD domain containing 2B							63.0	62.0	62.0					21																	30380387		2203	4300	6503	SO:0001819	synonymous_variant	10069							g.chr21:30380387G>A	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.420C>T	21.37:g.30380387G>A						RWDD2B_uc002ymt.2_Silent_p.F111F|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Silent_p.F60F	p.F140F	NM_016940	NP_058636	P57060	RWD2B_HUMAN			4	507	-			140			RWD.			Silent	SNP	ENST00000493196.1	37	c.420C>T	CCDS13582.1																																																																																				0.398	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1				20	59	0	0	0	0.055883	0	20	59		
RSPH1	89765	broad.mit.edu	37	21	43897508	43897508	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:43897508G>A	ENST00000291536.3	-	7	787	c.620C>T	c.(619-621)cCa>cTa	p.P207L	RSPH1_ENST00000398352.3_Missense_Mutation_p.P169L	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	207					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TTTCCATTTTGGAACAACAGT	0.453																																					Esophageal Squamous(23;63 706 6286 10288 12913)	uc002zbg.2		NaN																	0				ovary(1)	1						c.(619-621)CCA>CTA		testis-specific gene A2							263.0	232.0	243.0					21																	43897508		2203	4300	6503	SO:0001583	missense	89765				meiosis	cytosol|nucleus		g.chr21:43897508G>A	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.620C>T	21.37:g.43897508G>A	ENSP00000291536:p.Pro207Leu						p.P207L	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN			7	725	-			207					A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	c.620C>T	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026238	0.54683	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.61510	0.1;0.13	4.3	4.3	0.51218	.	0.135505	0.49305	D	0.000157	T	0.66848	0.2831	L	0.42245	1.32	0.53688	D	0.999977	D	0.89917	1.0	D	0.83275	0.996	T	0.63431	-0.6639	10	0.28530	T	0.3	.	14.0773	0.64897	0.0:0.0:1.0:0.0	.	207	Q8WYR4	RSPH1_HUMAN	L	207;169	ENSP00000291536:P207L;ENSP00000381395:P169L	ENSP00000291536:P207L	P	-	2	0	RSPH1	42770577	1.000000	0.71417	0.493000	0.27502	0.681000	0.39784	5.079000	0.64431	2.139000	0.66308	0.655000	0.94253	CCA		0.453	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1				30	61	0	0	0	0.054565	0	30	61		
SLC19A1	6573	broad.mit.edu	37	21	46951324	46951324	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:46951324C>T	ENST00000311124.4	-	3	1080	c.928G>A	c.(928-930)Gat>Aat	p.D310N	SLC19A1_ENST00000380010.4_Missense_Mutation_p.D310N|SLC19A1_ENST00000567670.1_Missense_Mutation_p.D310N|SLC19A1_ENST00000485649.2_Missense_Mutation_p.D270N	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	310					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GAGGCAGCATCTGCCGCGCCG	0.662																																						uc002zhl.1		NaN																	0					0						c.(928-930)GAT>AAT		solute carrier family 19 member 1							49.0	54.0	53.0					21																	46951324		2202	4299	6501	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951324C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.928G>A	21.37:g.46951324C>T	ENSP00000308895:p.Asp310Asn					SLC19A1_uc010gpy.1_Missense_Mutation_p.D310N|SLC19A1_uc011aft.1_Missense_Mutation_p.D270N|SLC19A1_uc002zhm.1_Missense_Mutation_p.D310N|SLC19A1_uc010gpz.1_Missense_Mutation_p.D189N	p.D310N	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	1047	-			310			Helical; (Probable).		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.928G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	c	18.24	3.581110	0.65992	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.86956	-2.19;-2.19;-2.19	4.33	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);	0.225673	0.44097	D	0.000492	D	0.93858	0.8035	M	0.87900	2.915	0.53688	D	0.999977	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.74674	0.984;0.984;0.982;0.984	D	0.95067	0.8201	10	0.87932	D	0	-26.1063	15.7702	0.78162	0.0:1.0:0.0:0.0	.	270;332;310;310	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	N	57;310;310;270	ENSP00000308895:D310N;ENSP00000369347:D310N;ENSP00000441772:D270N	ENSP00000308895:D310N	D	-	1	0	SLC19A1	45775752	1.000000	0.71417	0.122000	0.21767	0.008000	0.06430	7.005000	0.76323	2.137000	0.66172	0.313000	0.20887	GAT		0.662	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1				28	78	0	0	0	0.037714	0	28	78		
THOC5	8563	broad.mit.edu	37	22	29917011	29917011	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:29917011T>C	ENST00000490103.1	-	13	1375	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S	THOC5_ENST00000397873.2_Missense_Mutation_p.N418S|THOC5_ENST00000397872.1_Missense_Mutation_p.N418S|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.N418S	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	418					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGATACTGATTGGCTGGATT	0.463																																						uc003afr.2		NaN																	0				breast(3)	3						c.(1252-1254)AAT>AGT		THO complex 5							165.0	174.0	171.0					22																	29917011		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29917011T>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1253A>G	22.37:g.29917011T>C	ENSP00000420306:p.Asn418Ser					THOC5_uc003afq.2_Missense_Mutation_p.N79S|THOC5_uc003afs.2_Missense_Mutation_p.N418S|THOC5_uc003aft.2_Missense_Mutation_p.N418S|THOC5_uc003afu.2_Missense_Mutation_p.N418S|THOC5_uc010gvo.2_Missense_Mutation_p.N162S	p.N418S	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			14	1588	-			418					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1253A>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	32	5.128054	0.94473	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48536	-0.9027	10	0.11485	T	0.65	-21.4732	15.8454	0.78883	0.0:0.0:0.0:1.0	.	418	Q13769	THOC5_HUMAN	S	418	ENSP00000420306:N418S;ENSP00000380970:N418S;ENSP00000380969:N418S;ENSP00000380971:N418S	ENSP00000380969:N418S	N	-	2	0	THOC5	28247011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.546000	0.82137	2.222000	0.72286	0.533000	0.62120	AAT		0.463	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1		NM_003678		67	153	0	0	0	0.048971	0	67	153		
ASCC2	84164	broad.mit.edu	37	22	30198142	30198142	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:30198142G>A	ENST00000397771.2	-	15	1586	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	ASCC2_ENST00000307790.3_Missense_Mutation_p.S470F|ASCC2_ENST00000542393.1_Missense_Mutation_p.S394F			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	470	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGAGATGAGAGAGTCCAGTTC	0.607																																						uc003agr.2		NaN																	0					0						c.(1408-1410)TCT>TTT		activating signal cointegrator 1 complex subunit							70.0	64.0	66.0					22																	30198142		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30198142G>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1409C>T	22.37:g.30198142G>A	ENSP00000380877:p.Ser470Phe					ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.S470F|ASCC2_uc011akr.1_Missense_Mutation_p.S394F	p.S470F	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		14	1514	-			470			CUE.		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1409C>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213685	0.79352	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.49432	0.78;0.78;0.78	5.64	4.62	0.57501	Ubiquitin system component Cue (3);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.88310	2.945	0.80722	D	1	P;P	0.46220	0.847;0.874	P;P	0.59288	0.774;0.855	T	0.77059	-0.2728	10	0.87932	D	0	-5.1657	14.0846	0.64947	0.0717:0.0:0.9283:0.0	.	394;470	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	F	470;470;394	ENSP00000305502:S470F;ENSP00000380877:S470F;ENSP00000437570:S394F	ENSP00000305502:S470F	S	-	2	0	ASCC2	28528142	1.000000	0.71417	0.915000	0.36163	0.911000	0.54048	6.950000	0.75977	1.623000	0.50342	0.650000	0.86243	TCT		0.607	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1		NM_032204		27	46	0	0	0	0.037714	0	27	46		
APOBEC3H	164668	broad.mit.edu	37	22	39497957	39497957	+	Silent	SNP	C	C	T	rs578208861		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:39497957C>T	ENST00000401756.1	+	4	529	c.453C>T	c.(451-453)caC>caT	p.H151H	APOBEC3H_ENST00000442487.3_Silent_p.H151H|APOBEC3H_ENST00000348946.4_Silent_p.H151H|APOBEC3H_ENST00000421988.2_Intron	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	151					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TTGTGGACCACGAGAAACCGC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		10056	0.0		0.0	False		,,,				2504	0.0					uc011aoh.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(451-453)CAC>CAT		apolipoprotein B mRNA editing enzyme, catalytic							76.0	72.0	73.0					22																	39497957		2203	4300	6503	SO:0001819	synonymous_variant	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39497957C>T	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.453C>T	22.37:g.39497957C>T						APOBEC3H_uc011aoi.1_RNA|APOBEC3H_uc003axa.3_RNA	p.H151H	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN			4	519	+	Melanoma(58;0.04)		151					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Silent	SNP	ENST00000401756.1	37	c.453C>T	CCDS54530.1																																																																																				0.527	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1		NM_181773		28	52	0	0	0	0.030593	0	28	52		
LRRN1	57633	broad.mit.edu	37	3	3886477	3886477	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:3886477G>A	ENST00000319331.3	+	2	913	c.152G>A	c.(151-153)aGa>aAa	p.R51K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	51	LRRNT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCAACTTACAGAGAAGCCACC	0.438																																						uc003bpt.3		NaN																	0				central_nervous_system(1)	1						c.(151-153)AGA>AAA		leucine rich repeat neuronal 1 precursor							137.0	124.0	128.0					3																	3886477		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886477G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.152G>A	3.37:g.3886477G>A	ENSP00000314901:p.Arg51Lys					SUMF1_uc003bps.1_Intron	p.R51K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	913	+			51			LRRNT.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.152G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815314	0.32053	.	.	ENSG00000175928	ENST00000319331	T	0.21031	2.03	5.76	5.76	0.90799	Leucine-rich repeat-containing N-terminal (1);	0.094767	0.64402	D	0.000004	T	0.19525	0.0469	L	0.41236	1.265	0.46044	D	0.998837	B	0.09022	0.002	B	0.08055	0.003	T	0.11227	-1.0596	10	0.07990	T	0.79	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	51	Q6UXK5	LRRN1_HUMAN	K	51	ENSP00000314901:R51K	ENSP00000314901:R51K	R	+	2	0	LRRN1	3861477	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.931000	0.87625	2.713000	0.92767	0.655000	0.94253	AGA		0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2		NM_020873		37	92	0	0	0	0.080422	0	37	92		
IL17RC	84818	broad.mit.edu	37	3	9974314	9974314	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:9974314C>T	ENST00000295981.3	+	17	1841	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	IL17RC_ENST00000413608.1_Silent_p.L470L|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000416074.2_Silent_p.L309L|CRELD1_ENST00000383811.3_5'Flank|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Silent_p.L438L|IL17RC_ENST00000403601.3_Silent_p.L470L|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000383812.4_Silent_p.L455L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	541					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTGGGCCCTCGTGTGGCTGG	0.532											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bua.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1621-1623)CTC>CTT		interleukin 17 receptor C isoform 1 precursor							75.0	80.0	78.0					3																	9974314		2203	4300	6503	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9974314C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1623C>T	3.37:g.9974314C>T			OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	661	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Silent_p.L470L|IL17RC_uc011atp.1_Silent_p.L309L|IL17RC_uc003bud.2_Silent_p.L11L|IL17RC_uc003bub.2_Silent_p.L455L|IL17RC_uc010hct.2_Silent_p.L470L|IL17RC_uc010hcu.2_Silent_p.L453L|IL17RC_uc010hcv.2_Silent_p.L438L|IL17RC_uc011atq.1_Silent_p.L455L|IL17RC_uc003buc.2_Silent_p.L11L|IL17RC_uc003bue.2_Silent_p.L106L|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank	p.L541L	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN			17	1859	+			541			Helical; (Potential).		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.1623C>T	CCDS2590.1																																																																																				0.532	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732		32	77	0	0	0	0.054565	0	32	77		
SMARCC1	6599	broad.mit.edu	37	3	47717003	47717003	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:47717003G>C	ENST00000254480.5	-	18	1920	c.1801C>G	c.(1801-1803)Ctc>Gtc	p.L601V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	601					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCAGTACGGAGACCAAAGTTC	0.378																																						uc003crq.2		NaN																	0				skin(2)|lung(1)	3						c.(1801-1803)CTC>GTC		SWI/SNF-related matrix-associated							146.0	139.0	141.0					3																	47717003		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47717003G>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1801C>G	3.37:g.47717003G>C	ENSP00000254480:p.Leu601Val					SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.L492V	p.L601V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	18	1919	-			601					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1801C>G	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864252	0.71949	.	.	ENSG00000173473	ENST00000254480	T	0.54071	0.59	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78492	-0.2183	10	0.87932	D	0	-21.6159	12.4702	0.55783	0.0763:0.0:0.9237:0.0	.	601	Q92922	SMRC1_HUMAN	V	601	ENSP00000254480:L601V	ENSP00000254480:L601V	L	-	1	0	SMARCC1	47692007	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	5.556000	0.67307	2.873000	0.98535	0.563000	0.77884	CTC		0.378	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1				16	36	0	0	0	0.038395	0	16	36		
IP6K2	51447	broad.mit.edu	37	3	48732710	48732710	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:48732710G>A	ENST00000328631.5	-	2	238	c.15C>T	c.(13-15)ttC>ttT	p.F5F	IP6K2_ENST00000431721.2_Silent_p.F60F|IP6K2_ENST00000413298.1_Silent_p.F5F|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000340879.4_Silent_p.F5F|IP6K2_ENST00000432678.2_Silent_p.F5F|IP6K2_ENST00000443964.1_Silent_p.F64F|IP6K2_ENST00000446860.1_Silent_p.F63F|IP6K2_ENST00000450045.1_Silent_p.F59F|IP6K2_ENST00000449610.1_Silent_p.F5F|IP6K2_ENST00000453202.1_Silent_p.F5F|IP6K2_ENST00000417896.1_Silent_p.F5F	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	5					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CCATGGCCCTGAAGGCTGGGC	0.637																																						uc003cup.2		NaN																	0					0						c.(13-15)TTC>TTT		inositol hexaphosphate kinase 2 isoform a							31.0	35.0	34.0					3																	48732710		2203	4300	6503	SO:0001819	synonymous_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732710G>A	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.15C>T	3.37:g.48732710G>A						IP6K2_uc003cuq.2_Silent_p.F5F|IP6K2_uc011bbq.1_Silent_p.F5F|IP6K2_uc011bbr.1_Silent_p.F5F|IP6K2_uc003cur.2_Silent_p.F5F|IP6K2_uc003cus.2_Silent_p.F5F|IP6K2_uc003cut.2_RNA|IP6K2_uc011bbs.1_RNA|IP6K2_uc011bbt.1_Silent_p.F60F|IP6K2_uc003cuv.1_Nonsense_Mutation_p.Q131*|IP6K2_uc011bbu.1_Silent_p.F59F|IP6K2_uc011bbv.1_Silent_p.F63F|IP6K2_uc003cuw.1_Nonsense_Mutation_p.Q130*	p.F5F	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN			2	259	-			5					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Silent	SNP	ENST00000328631.5	37	c.15C>T	CCDS2777.1																																																																																				0.637	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2		NM_016291		24	26	0	0	0	0.069288	0	24	26		
ACTR8	93973	broad.mit.edu	37	3	53907147	53907147	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:53907147G>A	ENST00000335754.3	-	9	1173	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	ACTR8_ENST00000482349.1_Missense_Mutation_p.S247F|ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000231909.7_Missense_Mutation_p.S63F	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	358					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTGAAGCCCAGAGATGTCCTG	0.418																																						uc003dhd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1072-1074)TCT>TTT		actin-related protein 8							66.0	62.0	64.0					3																	53907147		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53907147G>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1073C>T	3.37:g.53907147G>A	ENSP00000336842:p.Ser358Phe					ACTR8_uc003dhb.2_Missense_Mutation_p.S63F|ACTR8_uc003dhc.2_Missense_Mutation_p.S247F	p.S358F	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	9	1132	-			358					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.1073C>T	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184086	0.94885	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	D;D;D	0.97455	-3.4;-3.4;-4.39	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.96134	0.8740	L	0.51422	1.61	0.80722	D	1	B;B	0.30146	0.27;0.22	B;B	0.36186	0.219;0.062	D	0.93986	0.7262	10	0.45353	T	0.12	-0.1256	19.0599	0.93085	0.0:0.0:1.0:0.0	.	358;63	Q9H981;Q9H981-3	ARP8_HUMAN;.	F	358;247;63	ENSP00000336842:S358F;ENSP00000419429:S247F;ENSP00000231909:S63F	ENSP00000231909:S63F	S	-	2	0	ACTR8	53882187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.105000	0.77031	2.941000	0.99782	0.655000	0.94253	TCT		0.418	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2		NM_022899		10	14	0	0	0	0.080935	0	10	14		
OR5H14	403273	broad.mit.edu	37	3	97868522	97868522	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:97868522A>C	ENST00000437310.1	+	1	353	c.293A>C	c.(292-294)aAg>aCg	p.K98T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGAATGCAAGATACAGTTG	0.383																																						uc003dsg.1		NaN																	0				skin(1)	1						c.(292-294)AAG>ACG		olfactory receptor, family 5, subfamily H,							206.0	213.0	210.0					3																	97868522		2203	4299	6502	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868522A>C		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.293A>C	3.37:g.97868522A>C	ENSP00000401706:p.Lys98Thr						p.K98T	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	293	+			98			Extracellular (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.293A>C	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	A	7.576	0.667713	0.14710	.	.	ENSG00000236032	ENST00000437310	T	0.00384	7.6	2.49	-2.47	0.06442	GPCR, rhodopsin-like superfamily (1);	0.623259	0.15002	N	0.286069	T	0.00144	0.0004	N	0.05078	-0.115	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34477	-0.9827	10	0.49607	T	0.09	.	2.7809	0.05360	0.3994:0.1334:0.0:0.4672	.	98	A6NHG9	O5H14_HUMAN	T	98	ENSP00000401706:K98T	ENSP00000401706:K98T	K	+	2	0	OR5H14	99351212	0.000000	0.05858	0.005000	0.12908	0.090000	0.18270	0.447000	0.21710	-0.677000	0.05231	0.164000	0.16699	AAG		0.383	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1				100	202	0	0	0	0.048971	0	100	202		
CASR	846	broad.mit.edu	37	3	121980624	121980624	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:121980624G>C	ENST00000490131.1	+	4	1114	c.742G>C	c.(742-744)Gat>Cat	p.D248H	CASR_ENST00000296154.5_Missense_Mutation_p.D248H|CASR_ENST00000498619.1_Missense_Mutation_p.D248H	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	248					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGTACTCTGATGAGGAAGA	0.502																																						uc003eev.3		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(742-744)GAT>CAT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						152.0	163.0	159.0					3																	121980624		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980624G>C	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.742G>C	3.37:g.121980624G>C	ENSP00000418685:p.Asp248His					CASR_uc003eew.3_Missense_Mutation_p.D248H	p.D248H	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1114	+			248			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.742G>C	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362173	0.61403	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.85013	-1.93;-1.93;-1.93	6.17	4.3	0.51218	Extracellular ligand-binding receptor (1);	0.320705	0.41396	D	0.000895	D	0.84977	0.5592	L	0.43646	1.37	0.48511	D	0.999669	P;P	0.46142	0.873;0.794	P;P	0.52267	0.694;0.622	D	0.83571	0.0112	10	0.34782	T	0.22	.	12.7546	0.57328	0.0:0.1253:0.7443:0.1304	.	248;248	E7ENE0;P41180	.;CASR_HUMAN	H	248	ENSP00000418685:D248H;ENSP00000420194:D248H;ENSP00000296154:D248H	ENSP00000296154:D248H	D	+	1	0	CASR	123463314	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.699000	0.61796	1.585000	0.49928	0.655000	0.94253	GAT		0.502	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1		NM_000388		60	157	0	0	0	0.048971	0	60	157		
PLXND1	23129	broad.mit.edu	37	3	129303367	129303367	+	Silent	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:129303367G>C	ENST00000324093.4	-	6	2068	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	PLXND1_ENST00000393239.1_Silent_p.L630L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	630					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCATGCCACTGAGGCTGGGCA	0.637																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	0				large_intestine(1)	1						c.(1888-1890)CTC>CTG		plexin D1 precursor							76.0	71.0	73.0					3																	129303367		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303367G>C	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1890C>G	3.37:g.129303367G>C							p.L630L	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			6	1990	-			630			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.1890C>G	CCDS33854.1																																																																																				0.637	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		38	54	0	0	0	0.074837	0	38	54		
PAQR9	344838	broad.mit.edu	37	3	142681210	142681210	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:142681210G>A	ENST00000340634.3	-	1	968	c.969C>T	c.(967-969)taC>taT	p.Y323Y	RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	323						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						ACACCTGGTCGTAGATGCTGA	0.597																																						uc003evg.2		NaN																	0					0						c.(967-969)TAC>TAT		progestin and adipoQ receptor family member IX							79.0	86.0	84.0					3																	142681210		2203	4300	6503	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142681210G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.969C>T	3.37:g.142681210G>A						PAQR9_uc003evf.1_RNA	p.Y323Y	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	969	-			323			Cytoplasmic (Potential).		Q147T6	Silent	SNP	ENST00000340634.3	37	c.969C>T	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	7.170	0.587448	0.13812	.	.	ENSG00000188582	ENST00000492509	.	.	.	5.62	-1.67	0.08238	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.6351	11.3442	0.49550	0.4756:0.0:0.5244:0.0	.	.	.	.	X	64	.	.	R	-	1	2	PAQR9	144163900	0.003000	0.15002	0.965000	0.40720	0.998000	0.95712	-1.246000	0.02896	-0.740000	0.04803	0.650000	0.86243	CGA		0.597	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1		NM_198504		11	108	0	0	0	0.069234	0	11	108		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		22	9	0	0	0	0.076483	0	22	9		
GABRA4	2557	broad.mit.edu	37	4	46967082	46967082	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:46967082G>C	ENST00000264318.3	-	8	2021	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	347					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTCCATTTGAATATTGGTG	0.478																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1039-1041)CAA>GAA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						116.0	115.0	115.0					4																	46967082		2203	4299	6502	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967082G>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1039C>G	4.37:g.46967082G>C	ENSP00000264318:p.Gln347Glu						p.Q347E	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	1178	-			347			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1039C>G	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181337	0.57800	.	.	ENSG00000109158	ENST00000264318	D	0.85629	-2.01	4.81	3.96	0.45880	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	N	0.25992	0.78	0.49582	D	0.999806	D	0.55605	0.972	P	0.51777	0.679	T	0.80598	-0.1311	10	0.33940	T	0.23	.	13.5403	0.61671	0.0:0.0:0.843:0.157	.	347	P48169	GBRA4_HUMAN	E	347	ENSP00000264318:Q347E	ENSP00000264318:Q347E	Q	-	1	0	GABRA4	46661839	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	9.657000	0.98554	1.216000	0.43427	-0.282000	0.10007	CAA		0.478	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1				26	68	0	0	0	0.099896	0	26	68		
AASDH	132949	broad.mit.edu	37	4	57220365	57220365	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:57220365C>G	ENST00000205214.6	-	8	1403	c.1223G>C	c.(1222-1224)aGa>aCa	p.R408T	AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.R308T|AASDH_ENST00000451613.1_Missense_Mutation_p.R408T|AASDH_ENST00000602986.1_Missense_Mutation_p.R255T|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000502617.1_Missense_Mutation_p.R408T	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	408					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)				AAAACACACTCTGTTTCTGCC	0.373																																						uc003hbn.2		NaN																	0				ovary(4)	4						c.(1222-1224)AGA>ACA		aminoadipate-semialdehyde dehydrogenase							89.0	82.0	84.0					4																	57220365		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57220365C>G	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.1223G>C	4.37:g.57220365C>G	ENSP00000205214:p.Arg408Thr					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.R255T|AASDH_uc003hbo.2_Missense_Mutation_p.R308T|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.R408T|AASDH_uc003hbp.2_Missense_Mutation_p.R408T	p.R408T	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			8	1376	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	408					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.1223G>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882812	0.91740	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.86	5.86	0.93980	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.73219	-0.4052	10	0.54805	T	0.06	-23.2804	20.1726	0.98160	0.0:1.0:0.0:0.0	.	255;408;408;408	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	T	408;308;408;255;408	ENSP00000205214:R408T;ENSP00000423760:R308T;ENSP00000409656:R408T;ENSP00000421171:R408T	ENSP00000205214:R408T	R	-	2	0	AASDH	56915122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.275000	0.78548	2.763000	0.94921	0.650000	0.86243	AGA		0.373	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1		NM_181806		12	51	0	0	0	0.09319	0	12	51		
RASA1	5921	broad.mit.edu	37	5	86672272	86672272	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr5:86672272C>G	ENST00000274376.6	+	16	2638	c.2074C>G	c.(2074-2076)Ctc>Gtc	p.L692V	RASA1_ENST00000506290.1_Missense_Mutation_p.L526V|RASA1_ENST00000512763.1_Missense_Mutation_p.L525V|RASA1_ENST00000456692.2_Missense_Mutation_p.L515V|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	692					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATGGTTTCTGCTCAGCTCCCA	0.423																																						uc003kiw.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2074-2076)CTC>GTC		RAS p21 protein activator 1 isoform 1							98.0	95.0	96.0					5																	86672272		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672272C>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2074C>G	5.37:g.86672272C>G	ENSP00000274376:p.Leu692Val					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L515V|RASA1_uc011ctv.1_Missense_Mutation_p.L525V|RASA1_uc011ctw.1_Missense_Mutation_p.L526V|RASA1_uc010jaw.2_Missense_Mutation_p.L514V	p.L692V	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	16	2192	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	692					B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2074C>G	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056702	0.76074	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.54	5.54	0.83059	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.59357	0.966;0.966;0.985;0.975;0.966	P;P;P;P;P	0.58130	0.571;0.471;0.685;0.833;0.571	T	0.81741	-0.0794	10	0.28530	T	0.3	.	19.4767	0.94992	0.0:1.0:0.0:0.0	.	526;525;526;515;692	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	V	692;725;515;525;526	ENSP00000274376:L692V;ENSP00000411221:L515V;ENSP00000422008:L525V;ENSP00000420905:L526V	ENSP00000274376:L692V	L	+	1	0	RASA1	86708028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.601000	0.87937	0.563000	0.77884	CTC		0.423	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1		NM_002890		12	17	0	0	0	0.080935	0	12	17		
PCDHB1	29930	broad.mit.edu	37	5	140432013	140432013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr5:140432013C>T	ENST00000306549.3	+	1	1035	c.958C>T	c.(958-960)Caa>Taa	p.Q320*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	320	Cadherin 3. {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)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTGACATTCAAGCTACAGA	0.473																																						uc003lik.1		NaN																	0					0						c.(958-960)CAA>TAA		protocadherin beta 1 precursor							120.0	116.0	117.0					5																	140432013		2203	4300	6503	SO:0001587	stop_gained	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432013C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.958C>T	5.37:g.140432013C>T	ENSP00000307234:p.Gln320*						p.Q320*	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1035	+			320			Cadherin 3.|Extracellular (Potential).		Q2M257	Nonsense_Mutation	SNP	ENST00000306549.3	37	c.958C>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677158	0.88445	.	.	ENSG00000171815	ENST00000306549	.	.	.	6.17	5.3	0.74995	.	0.000000	0.46145	D	0.000317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	11.8535	0.52425	0.1731:0.7108:0.1161:0.0	.	.	.	.	X	320	.	ENSP00000307234:Q320X	Q	+	1	0	PCDHB1	140412197	0.005000	0.15991	1.000000	0.80357	0.997000	0.91878	-0.109000	0.10840	1.597000	0.50072	0.655000	0.94253	CAA		0.473	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		52	42	0	0	0	0.048971	0	52	42		
MSH5	4439	broad.mit.edu	37	6	31712335	31712335	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:31712335G>A	ENST00000375755.3	+	8	946	c.660G>A	c.(658-660)gtG>gtA	p.V220V	MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Silent_p.V220V|MSH5_ENST00000431848.2_5'UTR|MSH5_ENST00000534153.4_Silent_p.V237V|MSH5-SAPCD1_ENST00000493662.2_Silent_p.V237V|MSH5_ENST00000375750.3_Silent_p.V220V|MSH5_ENST00000375742.3_Silent_p.V237V|MSH5_ENST00000375740.3_Silent_p.V237V	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	220					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CTCATCTGGTGAACATAGATC	0.463								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1		NaN																	0				ovary(2)|breast(1)	3						c.(658-660)GTG>GTA	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							143.0	126.0	132.0					6																	31712335		1511	2709	4220	SO:0001819	synonymous_variant	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31712335G>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.660G>A	6.37:g.31712335G>A						MSH5_uc003nwt.1_Silent_p.V237V|MSH5_uc003nwu.1_Silent_p.V220V|MSH5_uc003nww.1_Silent_p.V220V|MSH5_uc003nwx.1_Silent_p.V237V|MSH5_uc011dof.1_5'UTR	p.V220V	NM_172166	NP_751898	O43196	MSH5_HUMAN			8	739	+			220					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	c.660G>A	CCDS4720.1																																																																																				0.463	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4				33	49	0	0	0	0.059317	0	33	49		
EEF1A1	1915	broad.mit.edu	37	6	74229729	74229729	+	Silent	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:74229729A>G	ENST00000316292.9	-	1	1012	c.21T>C	c.(19-21)caT>caC	p.H7H	EEF1A1_ENST00000309268.6_Silent_p.H7H|EEF1A1_ENST00000331523.2_Silent_p.H7H|EEF1A1_ENST00000491404.1_5'Flank	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	7	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CAATGTTGATATGAGTCTTTT	0.423																																						uc003phi.2		NaN																	0					0						c.(19-21)CAT>CAC		eukaryotic translation elongation factor 1 alpha							48.0	49.0	49.0					6																	74229729		2203	4287	6490	SO:0001819	synonymous_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229729A>G	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.21T>C	6.37:g.74229729A>G						EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Silent_p.H7H|EEF1A1_uc003phf.2_Silent_p.H7H|EEF1A1_uc003phg.2_Silent_p.H7H|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Silent_p.H7H|EEF1A1_uc003phk.2_Silent_p.H7H|EEF1A1_uc003phl.2_Silent_p.H7H|EEF1A1_uc003phm.1_RNA	p.H7H	NM_001402	NP_001393	P68104	EF1A1_HUMAN			1	58	-			7					P04719|P04720|Q6IQ15	Silent	SNP	ENST00000316292.9	37	c.21T>C	CCDS4980.1																																																																																				0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2		NM_001402		31	52	0	0	0	0.034045	0	31	52		
ZNF292	23036	broad.mit.edu	37	6	87967337	87967337	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:87967337C>T	ENST00000369577.3	+	8	4033	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	ZNF292_ENST00000339907.4_Silent_p.F1325F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1330						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAAATAACTTCAGTAGCACCA	0.428																																						uc003plm.3		NaN																	0				ovary(4)	4						c.(3988-3990)TTC>TTT		zinc finger protein 292							26.0	26.0	26.0					6																	87967337		1841	4097	5938	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967337C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3990C>T	6.37:g.87967337C>T							p.F1330F	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4031	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1330					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.3990C>T	CCDS47457.1																																																																																				0.428	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2		NM_015021		5	12	0	0	0	0.014758	0	5	12		
TIAM2	26230	broad.mit.edu	37	6	155566797	155566797	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:155566797C>T	ENST00000461783.3	+	21	4857	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	TIAM2_ENST00000528391.2_Missense_Mutation_p.A531V|TIAM2_ENST00000456877.2_Missense_Mutation_p.A507V|TIAM2_ENST00000367174.2_Missense_Mutation_p.A571V|TIAM2_ENST00000275246.7_Missense_Mutation_p.A120V|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1219V|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1195V|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1195V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1195V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1195	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)	p.A1195V(1)		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)		CTTTATTACGCGGACCACTTT	0.403																																						uc003qqb.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|breast(1)	4						c.(3583-3585)GCG>GTG		T-cell lymphoma invasion and metastasis 2							235.0	249.0	244.0					6																	155566797		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.chr6:155566797C>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.3584C>T	6.37:g.155566797C>T	ENSP00000437188:p.Ala1195Val					TIAM2_uc003qqe.2_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.2_Missense_Mutation_p.A728V|TIAM2_uc003qqf.2_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.2_Missense_Mutation_p.A507V|TIAM2_uc003qqh.2_Missense_Mutation_p.A120V	p.A1195V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	21	4857	+		Ovarian(120;0.196)	1195			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3584C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616765	0.87359	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.43	5.43	0.79202	Dbl homology (DH) domain (5);	0.050880	0.85682	D	0.000000	T	0.56247	0.1972	L	0.33339	1.005	0.58432	D	0.999994	P;D;D;D	0.76494	0.932;0.993;0.999;0.989	P;P;P;P	0.57960	0.593;0.799;0.83;0.594	T	0.49735	-0.8908	10	0.16420	T	0.52	.	19.2631	0.93975	0.0:1.0:0.0:0.0	.	531;1195;1219;1195	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	V	1195;1441;1195;1195;1195;571;1219;1195;507;531;120;133	ENSP00000437188:A1195V;ENSP00000434901:A1195V;ENSP00000407746:A1195V;ENSP00000327315:A1195V;ENSP00000356142:A571V;ENSP00000353528:A1219V;ENSP00000433348:A1195V;ENSP00000407183:A507V;ENSP00000435335:A531V;ENSP00000275246:A120V;ENSP00000431269:A133V	ENSP00000275246:A120V	A	+	2	0	TIAM2	155608489	1.000000	0.71417	0.530000	0.27963	0.989000	0.77384	7.794000	0.85869	2.540000	0.85666	0.650000	0.86243	GCG		0.403	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2		NM_012454		86	217	0	0	0	0.048971	0	86	217		
SNX9	51429	broad.mit.edu	37	6	158330750	158330750	+	Silent	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:158330750G>C	ENST00000392185.3	+	8	930	c.759G>C	c.(757-759)gtG>gtC	p.V253V		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	253	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TTGACTGTGTGGTAGCAGATC	0.393																																						uc003qqv.1		NaN																	0					0						c.(757-759)GTG>GTC		sorting nexin 9							164.0	161.0	162.0					6																	158330750		2203	4300	6503	SO:0001819	synonymous_variant	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158330750G>C	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.759G>C	6.37:g.158330750G>C							p.V253V	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	8	932	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	253			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	c.759G>C	CCDS5253.1																																																																																				0.393	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1				32	77	0	0	0	0.041601	0	32	77		
POLD2	5425	broad.mit.edu	37	7	44157603	44157603	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:44157603A>T	ENST00000406581.2	-	4	930	c.281T>A	c.(280-282)gTg>gAg	p.V94E	POLD2_ENST00000223361.3_Missense_Mutation_p.V94E|POLD2_ENST00000452185.1_Missense_Mutation_p.V94E	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	94					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAGAGTGCCCACCACACAGCA	0.622																																						uc010kxz.2		NaN																	0				ovary(2)	2						c.(280-282)GTG>GAG		DNA-directed DNA polymerase delta 2							138.0	109.0	119.0					7																	44157603		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44157603A>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.281T>A	7.37:g.44157603A>T	ENSP00000386105:p.Val94Glu					POLD2_uc003tke.3_Missense_Mutation_p.V94E|POLD2_uc010kya.2_Missense_Mutation_p.V94E|POLD2_uc003tkf.3_Missense_Mutation_p.V94E	p.V94E	NM_006230	NP_006221	P49005	DPOD2_HUMAN			4	931	-			94					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.281T>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	A	31	5.071005	0.93950	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000433715;ENST00000456038;ENST00000418438	T;T;T	0.53206	0.67;0.63;0.67	5.03	5.03	0.67393	.	0.068233	0.64402	D	0.000015	T	0.70613	0.3244	M	0.87547	2.89	0.80722	D	1	D;D	0.69078	0.997;0.997	P;D	0.65140	0.894;0.932	T	0.77435	-0.2589	10	0.87932	D	0	-3.6261	14.4282	0.67230	1.0:0.0:0.0:0.0	.	94;94	P49005;F8W8R3	DPOD2_HUMAN;.	E	94	ENSP00000386105:V94E;ENSP00000223361:V94E;ENSP00000395231:V94E	ENSP00000223361:V94E	V	-	2	0	POLD2	44124128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.074000	0.93998	1.878000	0.54408	0.460000	0.39030	GTG		0.622	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2		NM_001127218		37	59	0	0	0	0.064281	0	37	59		
AUTS2	26053	broad.mit.edu	37	7	70255358	70255358	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:70255358C>T	ENST00000342771.4	+	19	3477	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	AUTS2_ENST00000406775.2_Silent_p.I1028I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1052										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGGGCATCAGCCCCCTCC	0.622																																						uc003tvw.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3154-3156)ATC>ATT		autism susceptibility candidate 2 isoform 1							28.0	32.0	31.0					7																	70255358		2203	4300	6503	SO:0001819	synonymous_variant	26053							g.chr7:70255358C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3156C>T	7.37:g.70255358C>T						AUTS2_uc003tvx.3_Silent_p.I1028I|AUTS2_uc011keg.1_Silent_p.I504I	p.I1052I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3899	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1052					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.3156C>T	CCDS5539.1																																																																																				0.622	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2				6	23	0	0	0	0.02938	0	6	23		
HEPACAM2	253012	broad.mit.edu	37	7	92848628	92848628	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:92848628T>A	ENST00000394468.2	-	2	293	c.216A>T	c.(214-216)agA>agT	p.R72S	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R60S|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.R60S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R95S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	72					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTGTGTGGGGTCTCTCAAATA	0.498																																						uc003umm.2		NaN																	0				ovary(3)|breast(1)|kidney(1)	5						c.(214-216)AGA>AGT		HEPACAM family member 2 isoform 1							163.0	156.0	159.0					7																	92848628		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92848628T>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.216A>T	7.37:g.92848628T>A	ENSP00000377980:p.Arg72Ser					HEPACAM2_uc003uml.2_Missense_Mutation_p.R60S|HEPACAM2_uc010lff.2_Missense_Mutation_p.R60S|HEPACAM2_uc011khy.1_Missense_Mutation_p.R95S	p.R72S	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			2	239	-			72			Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.216A>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226445	0.39300	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.72	-1.24	0.09435	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.219310	0.53938	D	0.000054	T	0.13670	0.0331	N	0.19112	0.55	0.34314	D	0.685799	B;B;B;B	0.30326	0.062;0.276;0.029;0.05	B;B;B;B	0.33196	0.055;0.159;0.055;0.032	T	0.32161	-0.9917	10	0.11794	T	0.64	-20.0927	11.5864	0.50920	0.0:0.708:0.0:0.292	.	95;60;72;60	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	S	72;60;60;95	ENSP00000377980:R72S;ENSP00000340532:R60S;ENSP00000389592:R60S;ENSP00000390204:R95S	ENSP00000340532:R60S	R	-	3	2	HEPACAM2	92686564	0.376000	0.25098	0.970000	0.41538	0.313000	0.28021	0.042000	0.13949	-0.053000	0.13289	-0.417000	0.06048	AGA		0.498	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1		NM_198151		32	60	0	0	0	0.041601	0	32	60		
ASB4	51666	broad.mit.edu	37	7	95165854	95165854	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:95165854G>A	ENST00000325885.5	+	4	1155	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	362					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCCGATGATGACTTGGAGGT	0.388																																						uc011kij.1		NaN																	0				central_nervous_system(1)	1						c.(1084-1086)GAC>AAC		ankyrin repeat and SOCS box-containing protein 4							133.0	107.0	116.0					7																	95165854		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95165854G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1084G>A	7.37:g.95165854G>A	ENSP00000321388:p.Asp362Asn						p.D362N	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	1084	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		362					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1084G>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707274	0.30322	.	.	ENSG00000005981	ENST00000325885	T	0.40476	1.03	5.05	3.93	0.45458	.	0.547229	0.21463	N	0.074129	T	0.23649	0.0572	N	0.08118	0	0.80722	D	1	B	0.25609	0.13	B	0.25987	0.065	T	0.10019	-1.0648	10	0.54805	T	0.06	-28.5902	10.571	0.45200	0.1272:0.0:0.8728:0.0	.	362	Q9Y574	ASB4_HUMAN	N	362	ENSP00000321388:D362N	ENSP00000321388:D362N	D	+	1	0	ASB4	95003790	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	4.662000	0.61525	2.543000	0.85770	0.650000	0.86243	GAC		0.388	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2		NM_016116		13	37	0	0	0	0.105934	0	13	37		
LMTK2	22853	broad.mit.edu	37	7	97821587	97821587	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:97821587G>C	ENST00000297293.5	+	11	2103	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	604					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGTACAGATGAGGACTTCTT	0.517																																						uc003upd.1		NaN																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(1810-1812)GAG>CAG		lemur tyrosine kinase 2 precursor							51.0	47.0	48.0					7																	97821587		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821587G>C	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1810G>C	7.37:g.97821587G>C	ENSP00000297293:p.Glu604Gln						p.E604Q	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	2103	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		604					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1810G>C	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891219	0.52014	.	.	ENSG00000164715	ENST00000297293	T	0.78364	-1.17	5.96	5.96	0.96718	.	0.161711	0.53938	D	0.000056	T	0.72366	0.3451	L	0.51422	1.61	0.29827	N	0.830354	P	0.39665	0.682	B	0.37692	0.256	T	0.74390	-0.3681	10	0.48119	T	0.1	.	12.6808	0.56920	0.0744:0.0:0.9256:0.0	.	604	Q8IWU2	LMTK2_HUMAN	Q	604	ENSP00000297293:E604Q	ENSP00000297293:E604Q	E	+	1	0	LMTK2	97659523	1.000000	0.71417	0.984000	0.44739	0.735000	0.41995	7.690000	0.84178	2.832000	0.97577	0.655000	0.94253	GAG		0.517	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1		NM_014916		19	39	0	0	0	0.043863	0	19	39		
KMT2E	55904	broad.mit.edu	37	7	104730618	104730618	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104730618G>A	ENST00000311117.3	+	14	2066	c.1521G>A	c.(1519-1521)caG>caA	p.Q507Q	KMT2E_ENST00000334877.4_Silent_p.Q507Q|KMT2E_ENST00000476671.1_Silent_p.Q507Q|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Silent_p.Q507Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	507					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CACAAAATCAGAATATTACTT	0.328																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1519-1521)CAG>CAA		myeloid/lymphoid or mixed-lineage leukemia 5							66.0	73.0	71.0					7																	104730618		2203	4300	6503	SO:0001819	synonymous_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104730618G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1521G>A	7.37:g.104730618G>A						MLL5_uc010lja.1_Silent_p.Q361Q|MLL5_uc010ljb.1_Silent_p.Q507Q|MLL5_uc003vcl.2_Silent_p.Q507Q|MLL5_uc010ljc.2_Silent_p.Q507Q|MLL5_uc003vco.1_RNA|MLL5_uc010ljd.1_3'UTR	p.Q507Q	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			14	2055	+			507					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.1521G>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	8.863	0.947317	0.18356	.	.	ENSG00000005483	ENST00000537308	.	.	.	5.83	3.01	0.34805	.	.	.	.	.	T	0.32255	0.0823	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12528	-1.0544	5	0.02654	T	1	.	11.7153	0.51650	0.188:0.0:0.812:0.0	.	.	.	.	K	441	.	ENSP00000439074:R441K	R	+	2	0	MLL5	104517854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.242000	0.51384	1.452000	0.47756	0.655000	0.94253	AGA		0.328	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				30	65	0	0	0	0.034045	0	30	65		
KMT2E	55904	broad.mit.edu	37	7	104731737	104731737	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731737G>A	ENST00000311117.3	+	15	2243	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q	KMT2E_ENST00000334877.4_Silent_p.Q566Q|KMT2E_ENST00000476671.1_Silent_p.Q566Q|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Silent_p.Q566Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	566					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CAGAGGAGCAGATTGCAGAAA	0.378																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1696-1698)CAG>CAA		myeloid/lymphoid or mixed-lineage leukemia 5							95.0	94.0	94.0					7																	104731737		2203	4300	6503	SO:0001819	synonymous_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104731737G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1698G>A	7.37:g.104731737G>A						MLL5_uc003vcl.2_Silent_p.Q566Q|MLL5_uc010ljc.2_Silent_p.Q566Q	p.Q566Q	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			15	2232	+			566			Potential.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.1698G>A	CCDS34723.1																																																																																				0.378	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				5	28	0	0	0	0.058154	0	5	28		
KMT2E	55904	broad.mit.edu	37	7	104731744	104731744	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731744G>A	ENST00000311117.3	+	15	2250	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	KMT2E_ENST00000334877.4_Missense_Mutation_p.E569K|KMT2E_ENST00000476671.1_Missense_Mutation_p.E569K|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.E569K	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	569					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GCAGATTGCAGAAAGGAAAAG	0.383																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1705-1707)GAA>AAA		myeloid/lymphoid or mixed-lineage leukemia 5							93.0	91.0	92.0					7																	104731744		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104731744G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1705G>A	7.37:g.104731744G>A	ENSP00000312379:p.Glu569Lys					MLL5_uc003vcl.2_Missense_Mutation_p.E569K|MLL5_uc010ljc.2_Missense_Mutation_p.E569K	p.E569K	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			15	2239	+			569			Potential.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.1705G>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318883	0.81469	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000257745;ENST00000476671	D;D;D;D	0.95069	-2.76;-2.42;-2.76;-3.6	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.76071	0.98;0.987	D	0.95613	0.8674	10	0.35671	T	0.21	.	19.6634	0.95882	0.0:0.0:1.0:0.0	.	569;569	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	K	569	ENSP00000312379:E569K;ENSP00000335599:E569K;ENSP00000257745:E569K;ENSP00000417888:E569K	ENSP00000257745:E569K	E	+	1	0	MLL5	104518980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.226000	0.95229	2.720000	0.93068	0.655000	0.94253	GAA		0.383	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				4	27	0	0	0	0.058154	0	4	27		
KMT2E	55904	broad.mit.edu	37	7	104731755	104731755	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731755G>A	ENST00000311117.3	+	15	2261	c.1716G>A	c.(1714-1716)agG>agA	p.R572R	KMT2E_ENST00000334877.4_Silent_p.R572R|KMT2E_ENST00000476671.1_Silent_p.R572R|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Silent_p.R572R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	572					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AAAGGAAAAGGAAGATGGTAA	0.373																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1714-1716)AGG>AGA		myeloid/lymphoid or mixed-lineage leukemia 5							88.0	87.0	87.0					7																	104731755		2203	4300	6503	SO:0001819	synonymous_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104731755G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1716G>A	7.37:g.104731755G>A						MLL5_uc003vcl.2_Silent_p.R572R|MLL5_uc010ljc.2_Silent_p.R572R	p.R572R	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			15	2250	+			572			Potential.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.1716G>A	CCDS34723.1																																																																																				0.373	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				4	23	0	0	0	0.038147	0	4	23		
OR6V1	346517	broad.mit.edu	37	7	142750161	142750161	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:142750161C>A	ENST00000418316.1	+	1	745	c.724C>A	c.(724-726)Cac>Aac	p.H242N		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTGCGGGTCTCACCTCACACT	0.552																																						uc011ksv.1		NaN																	0				ovary(1)	1						c.(724-726)CAC>AAC		olfactory receptor, family 6, subfamily V,							127.0	131.0	130.0					7																	142750161		2057	4207	6264	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750161C>A		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.724C>A	7.37:g.142750161C>A	ENSP00000396085:p.His242Asn						p.H242N	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	724	+	Melanoma(164;0.059)		242			Helical; Name=6; (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.724C>A	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161626	0.57368	.	.	ENSG00000225781	ENST00000418316	T	0.00314	8.14	4.72	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00815	0.0027	H	0.98682	4.3	0.22918	N	0.99857	P	0.49307	0.922	P	0.51701	0.677	T	0.21008	-1.0258	9	0.87932	D	0	.	9.3468	0.38113	0.0:0.8201:0.0:0.1799	.	242	Q8N148	OR6V1_HUMAN	N	242	ENSP00000396085:H242N	ENSP00000396085:H242N	H	+	1	0	OR6V1	142460283	1.000000	0.71417	0.001000	0.08648	0.885000	0.51271	5.389000	0.66255	0.584000	0.29591	0.655000	0.94253	CAC		0.552	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1				50	120	1	0	1.07234e-20	0.048971	1.15178e-20	50	120		
UBR5	51366	broad.mit.edu	37	8	103357737	103357737	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:103357737G>C	ENST00000520539.1	-	8	1379	c.773C>G	c.(772-774)tCt>tGt	p.S258C	UBR5_ENST00000220959.4_Missense_Mutation_p.S258C|UBR5_ENST00000521922.1_Missense_Mutation_p.S258C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	258				S -> Y (in Ref. 2; AAF88143). {ECO:0000305}.	cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGGGTGGGCAGAATGAATGTC	0.413																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(772-774)TCT>TGT		ubiquitin protein ligase E3 component n-recognin							108.0	97.0	101.0					8																	103357737		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103357737G>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.773C>G	8.37:g.103357737G>C	ENSP00000429084:p.Ser258Cys					UBR5_uc003yks.1_Missense_Mutation_p.S258C	p.S258C	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		8	806	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		258	S -> Y (in Ref. 2; AAF88143).				B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.773C>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544156	0.86022	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.50277	0.75;0.75;0.75	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	L	0.48642	1.525	0.58432	D	0.999994	D;D	0.56968	0.978;0.978	P;P	0.54460	0.753;0.753	T	0.58364	-0.7649	10	0.62326	D	0.03	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	258;258	E7EMW7;O95071	.;UBR5_HUMAN	C	258	ENSP00000429084:S258C;ENSP00000220959:S258C;ENSP00000427819:S258C	ENSP00000220959:S258C	S	-	2	0	UBR5	103426913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.009000	0.88606	2.802000	0.96397	0.655000	0.94253	TCT		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		10	25	0	0	0	0.080935	0	10	25		
UBR5	51366	broad.mit.edu	37	8	103357753	103357753	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:103357753C>G	ENST00000520539.1	-	8	1363	c.757G>C	c.(757-759)Gat>Cat	p.D253H	UBR5_ENST00000220959.4_Missense_Mutation_p.D253H|UBR5_ENST00000521922.1_Missense_Mutation_p.D253H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	253					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGTCGGCATCAAGGAGAGAC	0.403																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(757-759)GAT>CAT		ubiquitin protein ligase E3 component n-recognin							104.0	95.0	98.0					8																	103357753		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103357753C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.757G>C	8.37:g.103357753C>G	ENSP00000429084:p.Asp253His					UBR5_uc003yks.1_Missense_Mutation_p.D253H	p.D253H	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		8	790	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		253					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.757G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211291	0.95069	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.57752	0.38;0.38;0.41	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.74047	-0.3790	10	0.87932	D	0	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	253;253	E7EMW7;O95071	.;UBR5_HUMAN	H	253	ENSP00000429084:D253H;ENSP00000220959:D253H;ENSP00000427819:D253H	ENSP00000220959:D253H	D	-	1	0	UBR5	103426929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.802000	0.96397	0.655000	0.94253	GAT		0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		13	25	0	0	0	0.028581	0	13	25		
CPSF1	29894	broad.mit.edu	37	8	145624217	145624217	+	Silent	SNP	G	G	A	rs200672676		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:145624217G>A	ENST00000349769.3	-	17	1684	c.1590C>T	c.(1588-1590)ccC>ccT	p.P530P	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	530					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CATAGCAGCCGGGAAGCTCAA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		12872	0.0		0.001	False		,,,				2504	0.0				NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NaN																	0				skin(1)	1						c.(1588-1590)CCC>CCT		cleavage and polyadenylation specific factor 1,							90.0	97.0	95.0					8																	145624217		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624217G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1590C>T	8.37:g.145624217G>A							p.P530P	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		17	1665	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		530					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.1590C>T	CCDS34966.1																																																																																				0.637	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2		NM_013291		6	159	0	0	0	0.038147	0	6	159		
BSPRY	54836	broad.mit.edu	37	9	116132396	116132396	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:116132396G>C	ENST00000374183.4	+	6	1222	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGCTGTGGCCGATCAGACCAT	0.592																																						uc004bhg.3		NaN																	0				breast(1)	1						c.(1183-1185)GAT>CAT		B-box and SPRY domain containing							45.0	51.0	49.0					9																	116132396		1949	4099	6048	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116132396G>C	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.1183G>C	9.37:g.116132396G>C	ENSP00000363298:p.Asp395His					BSPRY_uc010muw.2_3'UTR	p.D395H	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			6	1231	+			395			B30.2/SPRY.		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.1183G>C	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577251	0.65878	.	.	ENSG00000119411	ENST00000374183	T	0.69306	-0.39	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.045811	0.85682	D	0.000000	T	0.68723	0.3032	L	0.47716	1.5	0.52501	D	0.999955	P	0.51057	0.941	P	0.50659	0.647	T	0.69921	-0.5014	10	0.49607	T	0.09	-19.7838	14.5949	0.68397	0.0:0.1571:0.8429:0.0	.	395	Q5W0U4	BSPRY_HUMAN	H	395	ENSP00000363298:D395H	ENSP00000363298:D395H	D	+	1	0	BSPRY	115172217	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	3.312000	0.51927	2.539000	0.85634	0.561000	0.74099	GAT		0.592	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1		NM_017688		39	30	0	0	0	0.104719	0	39	30		
COL27A1	85301	broad.mit.edu	37	9	116999271	116999271	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:116999271G>A	ENST00000356083.3	+	18	3021	c.2630G>A	c.(2629-2631)gGg>gAg	p.G877E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	877	Collagen-like 5.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGAGCCAGGGGTTGCCAGGG	0.622																																						uc011lxl.1		NaN																	0				ovary(3)|skin(1)	4						c.(2629-2631)GGG>GAG		collagen, type XXVII, alpha 1 precursor							34.0	36.0	35.0					9																	116999271		2203	4299	6502	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116999271G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2630G>A	9.37:g.116999271G>A	ENSP00000348385:p.Gly877Glu					COL27A1_uc004bii.2_RNA	p.G877E	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			18	2630	+			877			Collagen-like 5.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2630G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028325	0.54790	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99353	-5.77	5.31	4.41	0.53225	.	.	.	.	.	D	0.99211	0.9726	H	0.98559	4.265	0.52501	D	0.99995	P	0.36974	0.576	B	0.39706	0.307	D	0.99016	1.0816	9	0.87932	D	0	.	9.8611	0.41114	0.0947:0.0:0.9053:0.0	.	877	Q8IZC6	CORA1_HUMAN	E	877	ENSP00000348385:G877E	ENSP00000348385:G877E	G	+	2	0	COL27A1	116039092	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.106000	0.77039	1.236000	0.43740	0.555000	0.69702	GGG		0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		12	10	0	0	0	0.09319	0	12	10		
SPTAN1	6709	broad.mit.edu	37	9	131370245	131370245	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370245G>A	ENST00000372731.4	+	33	4371	c.4261G>A	c.(4261-4263)Gat>Aat	p.D1421N	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D1421N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D1421N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1421					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAGAAACTTGATATTCTTGA	0.547																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4261-4263)GAT>AAT		spectrin, alpha, non-erythrocytic 1							81.0	84.0	83.0					9																	131370245		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131370245G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4261G>A	9.37:g.131370245G>A	ENSP00000361816:p.Asp1421Asn					SPTAN1_uc004bvm.3_Missense_Mutation_p.D1421N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1401N	p.D1421N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			33	4374	+			1421			Spectrin 15.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4261G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425351	0.62733	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51071	1.26;0.72;1.26	5.73	4.83	0.62350	.	0.146864	0.64402	D	0.000009	T	0.34424	0.0897	N	0.20401	0.57	0.58432	D	0.999999	P;B;B	0.34639	0.461;0.057;0.07	B;B;B	0.30855	0.121;0.018;0.031	T	0.14587	-1.0467	10	0.40728	T	0.16	.	17.2522	0.87045	0.0:0.1256:0.8744:0.0	.	1401;1421;1421	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	N	1421;1421;1421;1401	ENSP00000350882:D1421N;ENSP00000361816:D1421N;ENSP00000361824:D1421N	ENSP00000350882:D1421N	D	+	1	0	SPTAN1	130410066	1.000000	0.71417	0.385000	0.26158	0.820000	0.46376	5.715000	0.68430	1.555000	0.49500	0.655000	0.94253	GAT		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		29	18	0	0	0	0.034045	0	29	18		
SPTAN1	6709	broad.mit.edu	37	9	131370275	131370275	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370275G>C	ENST00000372731.4	+	33	4401	c.4291G>C	c.(4291-4293)Gag>Cag	p.E1431Q	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1431Q|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1431Q	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1431					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCAGACCTGGAGAAGGCCTG	0.532																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4291-4293)GAG>CAG		spectrin, alpha, non-erythrocytic 1							104.0	111.0	109.0					9																	131370275		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131370275G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4291G>C	9.37:g.131370275G>C	ENSP00000361816:p.Glu1431Gln					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1431Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1411Q	p.E1431Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			33	4404	+			1431			Spectrin 15.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4291G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001872	0.74932	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.46819	0.86;0.86;0.86	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.992	D;P;D	0.68192	0.956;0.889;0.932	T	0.63712	-0.6575	10	0.72032	D	0.01	.	19.96	0.97242	0.0:0.0:1.0:0.0	.	1411;1431;1431	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	Q	1431;1431;1431;1411	ENSP00000350882:E1431Q;ENSP00000361816:E1431Q;ENSP00000361824:E1431Q	ENSP00000350882:E1431Q	E	+	1	0	SPTAN1	130410096	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.793000	0.96121	0.561000	0.74099	GAG		0.532	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		30	28	0	0	0	0.034045	0	30	28		
SPTAN1	6709	broad.mit.edu	37	9	131370487	131370487	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370487G>A	ENST00000372731.4	+	34	4533	c.4423G>A	c.(4423-4425)Gac>Aac	p.D1475N	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D1475N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D1475N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1475					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGACAAAGGAGACTCACTGGA	0.522																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4423-4425)GAC>AAC		spectrin, alpha, non-erythrocytic 1							162.0	165.0	164.0					9																	131370487		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131370487G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4423G>A	9.37:g.131370487G>A	ENSP00000361816:p.Asp1475Asn					SPTAN1_uc004bvm.3_Missense_Mutation_p.D1475N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1455N	p.D1475N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			34	4536	+			1475			Spectrin 16.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4423G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029761	0.75504	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.48201	0.82;0.82;0.82	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.31157	0.91	0.80722	D	1	B;D;D	0.69078	0.005;0.996;0.997	B;D;D	0.77004	0.015;0.981;0.989	T	0.56420	-0.7982	10	0.40728	T	0.16	.	19.8585	0.96775	0.0:0.0:1.0:0.0	.	1455;1475;1475	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	N	1475;1475;1475;1455	ENSP00000350882:D1475N;ENSP00000361816:D1475N;ENSP00000361824:D1475N	ENSP00000350882:D1475N	D	+	1	0	SPTAN1	130410308	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.760000	0.94817	0.655000	0.94253	GAC		0.522	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		82	62	0	0	0	0.048971	0	82	62		
SPTAN1	6709	broad.mit.edu	37	9	131371219	131371219	+	Missense_Mutation	SNP	G	G	A	rs374801331		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371219G>A	ENST00000372731.4	+	35	4668	c.4558G>A	c.(4558-4560)Gga>Aga	p.G1520R	SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1520R|SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1520R	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1520					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTATGCCAAGGGAGACATTTC	0.552																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4558-4560)GGA>AGA		spectrin, alpha, non-erythrocytic 1		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	152.0	157.0	155.0		4558,4498,4558	4.9	1.0	9		155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	1520/2478,1500/2453,1520/2473	131371219	1,13005	2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371219G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4558G>A	9.37:g.131371219G>A	ENSP00000361816:p.Gly1520Arg					SPTAN1_uc004bvm.3_Missense_Mutation_p.G1520R|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1500R	p.G1520R	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			35	4671	+			1520			Spectrin 16.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4558G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782030	0.31502	0.0	1.16E-4	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.42131	0.98;0.98;0.98	5.77	4.87	0.63330	.	0.230433	0.45606	D	0.000357	T	0.22475	0.0542	N	0.04297	-0.235	0.53688	D	0.999975	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.003	T	0.05370	-1.0889	10	0.19147	T	0.46	.	15.2412	0.73471	0.0676:0.0:0.9324:0.0	.	1500;1520;1520	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	R	1520;1520;1520;1500	ENSP00000350882:G1520R;ENSP00000361816:G1520R;ENSP00000361824:G1520R	ENSP00000350882:G1520R	G	+	1	0	SPTAN1	130411040	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.510000	0.60455	1.581000	0.49865	0.655000	0.94253	GGA		0.552	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		46	92	0	0	0	0.048971	0	46	92		
SPTAN1	6709	broad.mit.edu	37	9	131371243	131371243	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371243G>A	ENST00000372731.4	+	35	4692	c.4582G>A	c.(4582-4584)Gag>Aag	p.E1528K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1528K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1528K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1528					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGGCGCAATGAGGTCTTGGA	0.572																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4582-4584)GAG>AAG		spectrin, alpha, non-erythrocytic 1							116.0	119.0	118.0					9																	131371243		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371243G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4582G>A	9.37:g.131371243G>A	ENSP00000361816:p.Glu1528Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1528K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1508K	p.E1528K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			35	4695	+			1528			Spectrin 16.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4582G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536963	0.85812	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.61392	0.11;0.11;0.11	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	L	0.41356	1.27	0.80722	D	1	P;P;D	0.52996	0.59;0.947;0.957	B;D;D	0.68039	0.292;0.924;0.955	T	0.68644	-0.5354	10	0.54805	T	0.06	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	1508;1528;1528	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	1528;1528;1528;1508	ENSP00000350882:E1528K;ENSP00000361816:E1528K;ENSP00000361824:E1528K	ENSP00000350882:E1528K	E	+	1	0	SPTAN1	130411064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.884000	0.98904	0.655000	0.94253	GAG		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		37	64	0	0	0	0.069456	0	37	64		
SPTAN1	6709	broad.mit.edu	37	9	131371429	131371429	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371429G>A	ENST00000372731.4	+	36	4734	c.4624G>A	c.(4624-4626)Gag>Aag	p.E1542K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1542K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1542K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1542					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCAGATGATTGAGAAAAGGTC	0.473																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4624-4626)GAG>AAG		spectrin, alpha, non-erythrocytic 1							120.0	116.0	117.0					9																	131371429		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371429G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4624G>A	9.37:g.131371429G>A	ENSP00000361816:p.Glu1542Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1542K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1522K	p.E1542K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			36	4737	+			1542			Spectrin 16.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4624G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283008	0.80692	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.53857	0.6;0.6;0.6	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	L	0.53729	1.69	0.80722	D	1	P;P;P	0.49961	0.608;0.913;0.93	B;P;D	0.65233	0.246;0.89;0.933	T	0.68191	-0.5474	10	0.54805	T	0.06	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	1522;1542;1542	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	1542;1542;1542;1522	ENSP00000350882:E1542K;ENSP00000361816:E1542K;ENSP00000361824:E1542K	ENSP00000350882:E1542K	E	+	1	0	SPTAN1	130411250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.452000	0.97615	2.659000	0.90383	0.655000	0.94253	GAG		0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		30	37	0	0	0	0.037714	0	30	37		
SPTAN1	6709	broad.mit.edu	37	9	131371495	131371495	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371495G>A	ENST00000372731.4	+	36	4800	c.4690G>A	c.(4690-4692)Gag>Aag	p.E1564K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1564K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1564K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1564					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGATGAGATTGAGGCTTGGAT	0.478																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4690-4692)GAG>AAG		spectrin, alpha, non-erythrocytic 1							114.0	105.0	108.0					9																	131371495		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371495G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4690G>A	9.37:g.131371495G>A	ENSP00000361816:p.Glu1564Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1564K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1544K	p.E1564K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			36	4803	+			1564			Spectrin 17.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4690G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320003	0.95682	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.54279	0.58;0.58;0.58	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	L	0.50993	1.605	0.80722	D	1	D;D;D	0.89917	1.0;0.974;0.979	D;D;D	0.91635	0.999;0.953;0.973	T	0.69266	-0.5190	10	0.56958	D	0.05	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	1544;1564;1564	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	1564;1564;1564;1544	ENSP00000350882:E1564K;ENSP00000361816:E1564K;ENSP00000361824:E1564K	ENSP00000350882:E1564K	E	+	1	0	SPTAN1	130411316	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	9.476000	0.97823	2.659000	0.90383	0.655000	0.94253	GAG		0.478	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		28	21	0	0	0	0.037714	0	28	21		
SPTAN1	6709	broad.mit.edu	37	9	131374105	131374105	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131374105G>A	ENST00000372731.4	+	37	4981	c.4871G>A	c.(4870-4872)gGc>gAc	p.G1624D	SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1629D|SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1629D	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1624					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCCTGTGCCGGCAGTGAGGAT	0.557																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4870-4872)GGC>GAC		spectrin, alpha, non-erythrocytic 1							76.0	68.0	71.0					9																	131374105		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131374105G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4871G>A	9.37:g.131374105G>A	ENSP00000361816:p.Gly1624Asp					SPTAN1_uc004bvm.3_Missense_Mutation_p.G1629D|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1604D	p.G1624D	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			37	4984	+			1624			Spectrin 17.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4871G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544356	0.65198	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.47528	0.84;0.84;0.84	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.998	T	0.66284	-0.5962	10	0.87932	D	0	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	1604;1629;1624	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	D	1629;1624;1629;1604	ENSP00000350882:G1629D;ENSP00000361816:G1624D;ENSP00000361824:G1629D	ENSP00000350882:G1629D	G	+	2	0	SPTAN1	130413926	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	9.420000	0.97426	2.665000	0.90641	0.655000	0.94253	GGC		0.557	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		14	21	0	0	0	0.055883	0	14	21		
SPTAN1	6709	broad.mit.edu	37	9	131374110	131374110	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131374110G>A	ENST00000372731.4	+	37	4986	c.4876G>A	c.(4876-4878)Gag>Aag	p.E1626K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1631K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1631K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1626					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCCGGCAGTGAGGATGCTGT	0.557																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4876-4878)GAG>AAG		spectrin, alpha, non-erythrocytic 1							73.0	65.0	68.0					9																	131374110		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131374110G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4876G>A	9.37:g.131374110G>A	ENSP00000361816:p.Glu1626Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1631K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1606K	p.E1626K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			37	4989	+			1626			Spectrin 17.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4876G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412461	0.83340	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.50548	0.74;0.74;0.74	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.48877	1.53	0.80722	D	1	D;D;D	0.89917	1.0;0.974;0.979	D;D;D	0.91635	0.999;0.953;0.973	T	0.64330	-0.6433	10	0.56958	D	0.05	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	1606;1631;1626	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	1631;1626;1631;1606	ENSP00000350882:E1631K;ENSP00000361816:E1626K;ENSP00000361824:E1631K	ENSP00000350882:E1631K	E	+	1	0	SPTAN1	130413931	1.000000	0.71417	0.939000	0.37840	0.739000	0.42172	9.420000	0.97426	2.665000	0.90641	0.655000	0.94253	GAG		0.557	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		13	19	0	0	0	0.043863	0	13	19		
SPTAN1	6709	broad.mit.edu	37	9	131377919	131377919	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131377919G>A	ENST00000372731.4	+	40	5252	c.5142G>A	c.(5140-5142)ctG>ctA	p.L1714L	SPTAN1_ENST00000372739.3_Silent_p.L1719L|SPTAN1_ENST00000358161.5_Silent_p.L1719L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1714					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGATCGCCTGAAGGACCTGA	0.542																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5140-5142)CTG>CTA		spectrin, alpha, non-erythrocytic 1							57.0	55.0	56.0					9																	131377919		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131377919G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5142G>A	9.37:g.131377919G>A						SPTAN1_uc004bvm.3_Silent_p.L1719L|SPTAN1_uc004bvn.3_Silent_p.L1694L	p.L1714L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			40	5255	+			1714			Spectrin 18.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.5142G>A	CCDS6905.1																																																																																				0.542	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		16	23	0	0	0	0.038395	0	16	23		
SPTAN1	6709	broad.mit.edu	37	9	131378027	131378027	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131378027G>C	ENST00000372731.4	+	40	5360	c.5250G>C	c.(5248-5250)aaG>aaC	p.K1750N	SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1755N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.K1755N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1750					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGAAGATCAAGAGCATGGCGG	0.567																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5248-5250)AAG>AAC		spectrin, alpha, non-erythrocytic 1							85.0	77.0	80.0					9																	131378027		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131378027G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5250G>C	9.37:g.131378027G>C	ENSP00000361816:p.Lys1750Asn					SPTAN1_uc004bvm.3_Missense_Mutation_p.K1755N|SPTAN1_uc004bvn.3_Missense_Mutation_p.K1730N	p.K1750N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			40	5363	+			1750			Spectrin 18.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5250G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029644	0.54790	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.52983	0.64;0.64;0.64	5.71	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.76838	2.35	0.58432	D	0.999999	P;D;D	0.71674	0.938;0.997;0.998	P;D;D	0.79784	0.534;0.987;0.993	T	0.66508	-0.5906	10	0.51188	T	0.08	.	9.2243	0.37395	0.2741:0.0:0.7259:0.0	.	1730;1755;1750	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	N	1755;1750;1755;1730	ENSP00000350882:K1755N;ENSP00000361816:K1750N;ENSP00000361824:K1755N	ENSP00000350882:K1755N	K	+	3	2	SPTAN1	130417848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.288000	0.51739	1.432000	0.47375	0.655000	0.94253	AAG		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		24	30	0	0	0	0.069288	0	24	30		
SPTAN1	6709	broad.mit.edu	37	9	131378038	131378038	+	Missense_Mutation	SNP	C	C	T	rs368402085		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131378038C>T	ENST00000372731.4	+	40	5371	c.5261C>T	c.(5260-5262)gCc>gTc	p.A1754V	SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1759V|SPTAN1_ENST00000358161.5_Missense_Mutation_p.A1759V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1754					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCATGGCGGCCTCCCGGCGA	0.572																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5260-5262)GCC>GTC		spectrin, alpha, non-erythrocytic 1		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	83.0	75.0	78.0		5276,5201,5261	5.7	1.0	9		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	1759/2478,1734/2453,1754/2473	131378038	1,13005	2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131378038C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5261C>T	9.37:g.131378038C>T	ENSP00000361816:p.Ala1754Val					SPTAN1_uc004bvm.3_Missense_Mutation_p.A1759V|SPTAN1_uc004bvn.3_Missense_Mutation_p.A1734V	p.A1754V	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			40	5374	+			1754			Spectrin 18.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5261C>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970627	0.74246	0.0	1.16E-4	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.54866	0.55;0.55;0.55	5.71	5.71	0.89125	.	0.099991	0.64402	D	0.000002	T	0.52289	0.1725	M	0.62209	1.925	0.48762	D	0.999703	B;B;B	0.28552	0.001;0.18;0.215	B;B;B	0.24394	0.002;0.031;0.053	T	0.52290	-0.8595	10	0.54805	T	0.06	.	16.8233	0.85924	0.0:0.8718:0.1282:0.0	.	1734;1759;1754	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	V	1759;1754;1759;1734;3	ENSP00000350882:A1759V;ENSP00000361816:A1754V;ENSP00000361824:A1759V	ENSP00000350882:A1759V	A	+	2	0	SPTAN1	130417859	1.000000	0.71417	0.970000	0.41538	0.933000	0.57130	5.754000	0.68743	2.709000	0.92574	0.655000	0.94253	GCC		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		21	27	0	0	0	0.049695	0	21	27		
LUZP1	7798	broad.mit.edu	37	1	23419916	23419916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23419916delT	ENST00000302291.4	-	4	1640	c.839delA	c.(838-840)aacfs	p.N280fs	LUZP1_ENST00000418342.1_Frame_Shift_Del_p.N280fs|LUZP1_ENST00000374623.3_Frame_Shift_Del_p.N280fs|LUZP1_ENST00000314174.5_Frame_Shift_Del_p.N280fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	280					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTGATTGCGGTTCTTTTCATT	0.393																																						uc001bgk.2		NaN																	0					0						c.(838-840)AACfs		leucine zipper protein 1							215.0	202.0	206.0					1																	23419916		2203	4300	6503	SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23419916delT	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.839delA	1.37:g.23419916delT	ENSP00000303758:p.Asn280fs					LUZP1_uc010odv.1_Frame_Shift_Del_p.N280fs|LUZP1_uc001bgl.2_Frame_Shift_Del_p.N280fs|LUZP1_uc001bgm.1_Frame_Shift_Del_p.N280fs	p.N280fs	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1223	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	280			Potential.		Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Del	DEL	ENST00000302291.4	37	c.839delA	CCDS30628.1																																																																																				0.393	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631		23	94	NaN	NaN	NaN	NaN	NaN	23	94	---	---
C15orf52	388115	broad.mit.edu	37	15	40630039	40630040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:40630039_40630040insC	ENST00000559313.1	-	6	715_716	c.700_701insG	c.(700-702)gacfs	p.D234fs	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_Frame_Shift_Ins_p.D24fs	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	234							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGGGCATAGTCCCAGCCCGCC	0.693																																						uc001zlh.3		NaN																	0				large_intestine(1)	1						c.(700-702)GACfs		hypothetical protein LOC388115																																				SO:0001589	frameshift_variant	388115							g.chr15:40630039_40630040insC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.701dupG	15.37:g.40630042_40630042dupC	ENSP00000453969:p.Asp234fs					C15orf52_uc001zli.1_Frame_Shift_Ins_p.D166fs|C15orf52_uc010ucn.1_Frame_Shift_Ins_p.D24fs	p.D234fs	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	6	716_717	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	234					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.700_701insG	CCDS10055.2																																																																																				0.693	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2		NM_207380		9	32	NaN	NaN	NaN	NaN	NaN	9	32	---	---
CIB1	10519	broad.mit.edu	37	15	90771602	90771602	+	IGR	DEL	C	C	-			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:90771602delC	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000411539.2_Frame_Shift_Del_p.F747fs|SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000332496.6_Frame_Shift_Del_p.F747fs	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGAAAGTCTTCCTGAAGCAGG	0.612																																						uc002boy.2		NaN																	0				ovary(1)|breast(1)|kidney(1)	3						c.(2239-2241)TTCfs		semaphorin 4B precursor							65.0	69.0	68.0					15																	90771602		2073	4222	6295	SO:0001628	intergenic_variant	10509							g.chr15:90771602delC	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771602delC						SEMA4B_uc002boz.2_Frame_Shift_Del_p.F747fs|SEMA4B_uc010uqd.1_Frame_Shift_Del_p.F585fs|SEMA4B_uc002bpa.2_Frame_Shift_Del_p.F585fs|SEMA4B_uc010bnv.1_Intron	p.F747fs	NM_020210	NP_064595			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		15	2524	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Frame_Shift_Del	DEL	ENST00000328649.6	37	c.2241delC	CCDS10360.1																																																																																				0.612	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1				16	26	NaN	NaN	NaN	NaN	NaN	16	26	---	---
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																						uc003ghp.1		NaN																	1	Deletion - In frame(1)		upper_aerodigestive_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(310-318)CTGCTGTGGdel		otopetrin 1																																				SO:0001651	inframe_deletion	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228274_4228282delCCACAGCAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del						p.LLW104del	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	340_348	-			104_106			Helical; (Potential).		A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	c.310_318delCTGCTGTGG	CCDS3372.1																																																																																				0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2		NM_177998		8	23	NaN	NaN	NaN	NaN	NaN	8	23	---	---
EEF1A1	1915	broad.mit.edu	37	6	74229695	74229696	+	Frame_Shift_Ins	INS	-	-	CGAATCTA			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:74229695_74229696insCGAATCTA	ENST00000316292.9	-	1	1045_1046	c.54_55insTAGATTCG	c.(52-57)tcgggcfs	p.G19fs	EEF1A1_ENST00000309268.6_Frame_Shift_Ins_p.G19fs|EEF1A1_ENST00000331523.2_Frame_Shift_Ins_p.G19fs|EEF1A1_ENST00000491404.1_5'Flank	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	19	G1. {ECO:0000250}.|tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGGACTTGCCCGAATCTACGT	0.416																																						uc003phi.2		NaN																	0					0						c.(52-57)TCGGGCfs		eukaryotic translation elongation factor 1 alpha																																				SO:0001589	frameshift_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229695_74229696insCGAATCTA	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.47_54dupTAGATTCG	6.37:g.74229696_74229703dupCGAATCTA	ENSP00000339063:p.Gly19fs					EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phf.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phg.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phk.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phl.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phm.1_RNA	p.S18fs	NM_001402	NP_001393	P68104	EF1A1_HUMAN			1	91_92	-			18_19			GTP (By similarity).		P04719|P04720|Q6IQ15	Frame_Shift_Ins	INS	ENST00000316292.9	37	c.54_55insTAGATTCG	CCDS4980.1																																																																																				0.416	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2		NM_001402		25	76	NaN	NaN	NaN	NaN	NaN	25	76	---	---
SPTAN1	6709	broad.mit.edu	37	9	131371153	131371154	+	Splice_Site	INS	-	-	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371153_131371154insA	ENST00000372731.4	+	35	4602_4603	c.4492_4493insA	c.(4492-4494)gaa>gAaa	p.E1498fs	SPTAN1_ENST00000372739.3_Splice_Site_p.E1498fs|SPTAN1_ENST00000358161.5_Splice_Site_p.E1498fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1498					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTTCTGACAGGAAGAGAAGATT	0.54																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4492-4494)GAAfs		spectrin, alpha, non-erythrocytic 1																																				SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371153_131371154insA	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4492-1->A	9.37:g.131371155_131371155dupA						SPTAN1_uc004bvm.3_Frame_Shift_Ins_p.E1498fs|SPTAN1_uc004bvn.3_Frame_Shift_Ins_p.E1478fs	p.E1498fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			35	4605_4606	+			1498			Spectrin 16.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Ins	INS	ENST00000372731.4	37	c.4492_4493insA	CCDS6905.1																																																																																				0.540	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127	Frame_Shift_Ins	50	128	NaN	NaN	NaN	NaN	NaN	50	128	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	uc010njt.2		NaN																	5	Unknown(5)		upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)		0								nudix-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159	NP_060629	Q96G61	NUD11_HUMAN			1		-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1				4	7	NaN	NaN	NaN	NaN	NaN	4	7	---	---
