#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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CASZ1	54897	broad.mit.edu	37	1	10713622	10713622	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:10713622G>C	ENST00000377022.3	-	11	2809	c.2492C>G	c.(2491-2493)tCa>tGa	p.S831*	CASZ1_ENST00000344008.5_Nonsense_Mutation_p.S831*|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	831					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)		AGGGGTGGCTGAGGCTGCTGA	0.706																																						uc001aro.2		NA																	0				skin(1)	1						c.(2491-2493)TCA>TGA		castor homolog 1, zinc finger isoform a							17.0	23.0	21.0					1																	10713622		2195	4289	6484	SO:0001587	stop_gained	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713622G>C	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.2492C>G	1.37:g.10713622G>C	ENSP00000366221:p.Ser831*					CASZ1_uc001arp.1_Nonsense_Mutation_p.S831*|CASZ1_uc009vmx.2_Nonsense_Mutation_p.S855*	p.S831*	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	2812	-	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)	831					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Nonsense_Mutation	SNP	ENST00000377022.3	37	c.2492C>G	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	36	5.881693	0.97062	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.44	3.53	0.40419	.	0.657955	0.16065	N	0.231298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-1.8523	9.3941	0.38392	0.1661:0.0:0.8339:0.0	.	.	.	.	X	831	.	ENSP00000339445:S831X	S	-	2	0	CASZ1	10636209	0.998000	0.40836	0.003000	0.11579	0.004000	0.04260	4.436000	0.59948	1.191000	0.43056	0.655000	0.94253	TCA		0.706	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		12	52	0	0	0	0	12	52				
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs199623827	byFrequency	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:12885059C>G	ENST00000535591.1	-	4	1247	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C351S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532													.|||	21	0.00419329	0.003	0.0072	5008	,	,		19682	0.001		0.0089	False		,,,				2504	0.002					uc001auk.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(1051-1053)TGC>TCC		PRAME family member 11							36.0	29.0	31.0					1																	12885059		692	1579	2271	SO:0001583	missense	440560							g.chr1:12885059C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1052G>C	1.37:g.12885059C>G	ENSP00000439551:p.Cys351Ser						p.C351S	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1248	-			351			LRR 6.			Missense_Mutation	SNP	ENST00000535591.1	37	c.1052G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.316351	0.00235	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.06371	3.31;3.31	1.52	1.52	0.23074	.	0.067349	0.64402	N	0.000012	T	0.00608	0.0020	N	0.00003	-3.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.02654	T	1	.	5.7253	0.18010	0.0:0.3438:0.6562:0.0	.	351	O60813	PRA11_HUMAN	S	351;392;351	ENSP00000439551:C351S;ENSP00000391839:C351S	ENSP00000328783:C392S	C	-	2	0	PRAMEF11	12807646	0.578000	0.26717	0.014000	0.15608	0.005000	0.04900	0.846000	0.27682	0.208000	0.20626	-0.483000	0.04790	TGC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	283	0	0	0	0	4	283				
PDPN	10630	broad.mit.edu	37	1	13940214	13940214	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:13940214G>C	ENST00000509009.1	+	4	393	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	PDPN_ENST00000475043.1_Missense_Mutation_p.E80Q|PDPN_ENST00000376057.4_Missense_Mutation_p.E198Q|PDPN_ENST00000513143.1_Missense_Mutation_p.E80Q|PDPN_ENST00000294489.6_Missense_Mutation_p.E198Q|PDPN_ENST00000487038.1_Missense_Mutation_p.E80Q|PDPN_ENST00000376061.4_Missense_Mutation_p.E80Q					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GACAACAGTTGAGAAAGGTAG	0.323																																						uc001avd.2		NA																	0				ovary(2)	2						c.(592-594)GAG>CAG		lung type-I cell membrane-associated							55.0	61.0	59.0					1																	13940214		2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13940214G>C	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.349G>C	1.37:g.13940214G>C	ENSP00000422977:p.Glu117Gln					PDPN_uc001avc.2_Missense_Mutation_p.E198Q|PDPN_uc009vob.2_Missense_Mutation_p.E80Q|PDPN_uc009voc.2_Missense_Mutation_p.E80Q|PDPN_uc001ave.2_Missense_Mutation_p.E80Q|PDPN_uc001avf.2_Missense_Mutation_p.E80Q	p.E198Q	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	4	641	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	122			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000509009.1	37	c.592G>C		.	.	.	.	.	.	.	.	.	.	G	10.41	1.341409	0.24339	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.9	2.49	0.30216	.	0.712352	0.13033	N	0.419189	T	0.21468	0.0517	L	0.42245	1.32	0.09310	N	0.999998	P;P;P;P	0.38617	0.64;0.64;0.587;0.587	B;B;B;B	0.33620	0.167;0.167;0.104;0.104	T	0.12760	-1.0535	10	0.46703	T	0.11	-31.9121	5.0422	0.14465	0.2236:0.1602:0.6162:0.0	.	122;80;198;198	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	Q	198;198;189;117;80;80;80;80	ENSP00000294489:E198Q;ENSP00000365225:E198Q;ENSP00000426302:E189Q;ENSP00000422977:E117Q;ENSP00000365229:E80Q;ENSP00000425304:E80Q;ENSP00000427537:E80Q;ENSP00000426063:E80Q	ENSP00000294489:E198Q	E	+	1	0	PDPN	13812801	0.060000	0.20803	0.086000	0.20670	0.142000	0.21351	0.229000	0.17833	0.219000	0.20840	0.650000	0.86243	GAG		0.323	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		16	19	0	0	0	0	16	19				
PUM1	9698	broad.mit.edu	37	1	31423055	31423055	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:31423055G>A	ENST00000257075.5	-	17	2868	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	PUM1_ENST00000373742.2_Silent_p.V866V|PUM1_ENST00000426105.2_Silent_p.V925V|PUM1_ENST00000373741.4_Silent_p.V961V|PUM1_ENST00000423018.2_Silent_p.V781V|PUM1_ENST00000373747.3_Silent_p.V926V|PUM1_ENST00000440538.2_Silent_p.V899V|PUM1_ENST00000424085.2_Silent_p.V683V|SNORD103B_ENST00000365237.1_RNA	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	925	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCAATGACAGGACGTGGCCTC	0.438																																						uc001bsi.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2773-2775)GTC>GTT		pumilio 1 isoform 2							114.0	107.0	109.0					1																	31423055		2203	4300	6503	SO:0001819	synonymous_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31423055G>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2775C>T	1.37:g.31423055G>A						PUM1_uc001bsf.1_Silent_p.V591V|PUM1_uc001bsg.1_Silent_p.V659V|PUM1_uc001bsh.1_Silent_p.V925V|PUM1_uc001bsj.1_Silent_p.V899V|PUM1_uc010oga.1_Silent_p.V781V|PUM1_uc001bsk.1_Silent_p.V961V|PUM1_uc010ogb.1_Silent_p.V866V|SNORD103A_uc009vts.1_5'Flank	p.V925V	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	17	2888	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	925			PUM-HD.|Pumilio 3.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Silent	SNP	ENST00000257075.5	37	c.2775C>T	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.463|9.463	1.093489|1.093489	0.20471|0.20471	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419|ENST00000525997	.|.	.|.	.|.	5.26|5.26	4.33|4.33	0.51752|0.51752	.|.	.|.	.|.	.|.	.|.	T|T	0.48484|0.48484	0.1502|0.1502	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45323|0.45323	-0.9269|-0.9269	4|4	.|.	.|.	.|.	-9.3136|-9.3136	4.163|4.163	0.10293|0.10293	0.1323:0.1319:0.5998:0.136|0.1323:0.1319:0.5998:0.136	.|.	.|.	.|.	.|.	S|F	864;637|72	.|.	.|.	P|S	-|-	1|2	0|0	PUM1|PUM1	31195642|31195642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.611000|0.611000	0.24268|0.24268	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.438	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			6	65	0	0	0	0	6	65				
TRIT1	54802	broad.mit.edu	37	1	40319737	40319737	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:40319737C>T	ENST00000316891.5	-	3	333	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E107K|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E107K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	107					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATATATCTTCAATGTGAACA	0.373																																						uc010oiz.1		NA																	0				ovary(1)	1						c.(319-321)GAA>AAA		tRNA isopentenyltransferase 1 precursor							84.0	83.0	83.0					1																	40319737		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40319737C>T	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.319G>A	1.37:g.40319737C>T	ENSP00000321810:p.Glu107Lys					TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_5'UTR|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_5'UTR|TRIT1_uc001ceh.3_5'UTR|TRIT1_uc009vvv.2_5'UTR|TRIT1_uc001cei.3_5'UTR|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron|TRIT1_uc010oja.1_RNA	p.E107K	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	333	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	107					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.319G>A	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976477	0.74360	.	.	ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000544981	T;T;T	0.42900	0.96;0.96;0.96	5.48	5.48	0.80851	.	0.908427	0.09694	N	0.767915	T	0.46678	0.1405	L	0.50333	1.59	0.80722	D	1	B	0.15473	0.013	B	0.23018	0.043	T	0.28138	-1.0053	10	0.48119	T	0.1	29.5099	19.3454	0.94361	0.0:1.0:0.0:0.0	.	107	Q9H3H1	MOD5_HUMAN	K	107	ENSP00000321810:E107K;ENSP00000361905:E107K;ENSP00000442765:E107K	ENSP00000046894:E107K	E	-	1	0	TRIT1	40092324	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.570000	0.86706	0.563000	0.77884	GAA		0.373	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		13	73	0	0	0	0	13	73				
RIMS3	9783	broad.mit.edu	37	1	41107389	41107389	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:41107389G>A	ENST00000372684.3	-	3	678	c.209C>T	c.(208-210)cCg>cTg	p.P70L	RIMS3_ENST00000372683.1_Missense_Mutation_p.P70L	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	70					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			ACCAGGCTGCGGAAGCTGGAG	0.637																																						uc001cfu.1		NA																	0					0						c.(208-210)CCG>CTG		regulating synaptic membrane exocytosis 3							50.0	44.0	46.0					1																	41107389		2203	4300	6503	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41107389G>A	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.209C>T	1.37:g.41107389G>A	ENSP00000361769:p.Pro70Leu					RIMS3_uc001cfv.1_Missense_Mutation_p.P70L	p.P70L	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		3	678	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	70					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.209C>T	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315724	0.40996	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.35605	1.3;1.3	5.7	4.74	0.60224	.	0.196730	0.50627	D	0.000108	T	0.19005	0.0456	N	0.14661	0.345	0.47905	D	0.999545	B	0.32071	0.355	B	0.24541	0.054	T	0.06481	-1.0824	10	0.26408	T	0.33	-26.8504	11.0561	0.47920	0.0:0.0:0.7049:0.2951	.	70	Q9UJD0	RIMS3_HUMAN	L	70	ENSP00000361769:P70L;ENSP00000361768:P70L	ENSP00000361768:P70L	P	-	2	0	RIMS3	40879976	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.243000	0.43115	2.688000	0.91661	0.655000	0.94253	CCG		0.637	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		15	92	0	0	0	0	15	92				
SLC5A9	200010	broad.mit.edu	37	1	48708177	48708177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:48708177G>T	ENST00000438567.2	+	13	1778	c.1726G>T	c.(1726-1728)Gag>Tag	p.E576*	SLC5A9_ENST00000533824.1_Nonsense_Mutation_p.E597*|SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_Nonsense_Mutation_p.E601*	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	576					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTGAGCTGGAGAAGGAGGC	0.622																																						uc001cro.2		NA																	0				ovary(3)	3						c.(1726-1728)GAG>TAG		solute carrier family 5 (sodium/glucose							66.0	66.0	66.0					1																	48708177		2203	4300	6503	SO:0001587	stop_gained	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48708177G>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1726G>T	1.37:g.48708177G>T	ENSP00000401730:p.Glu576*					SLC5A9_uc001crn.2_Nonsense_Mutation_p.E601*|SLC5A9_uc010omt.1_Nonsense_Mutation_p.E590*|SLC5A9_uc001crp.2_Nonsense_Mutation_p.E243*|SLC5A9_uc010omu.1_Nonsense_Mutation_p.E243*|SLC5A9_uc009vyt.1_RNA	p.E576*	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			13	1778	+			576			Cytoplasmic (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Nonsense_Mutation	SNP	ENST00000438567.2	37	c.1726G>T	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819539	0.90873	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	.	.	.	4.49	2.5	0.30297	.	1.279630	0.05079	N	0.483083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	7.3863	0.26884	0.0944:0.1678:0.7378:0.0	.	.	.	.	X	597;576;601	.	ENSP00000236495:E601X	E	+	1	0	SLC5A9	48480764	0.991000	0.36638	0.719000	0.30619	0.126000	0.20510	1.134000	0.31442	0.391000	0.25143	0.563000	0.77884	GAG		0.622	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		6	170	1	0	0.00116845	0.00155244	6	170				
ELAVL4	1996	broad.mit.edu	37	1	50661352	50661352	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:50661352G>T	ENST00000371823.4	+	5	852	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S	ELAVL4_ENST00000371824.1_Missense_Mutation_p.A210S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.A215S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.A213S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.A215S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.A227S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.A210S	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	210	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGTGAAGTTTGCCAACAACCC	0.572																																						uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(628-630)GCC>TCC		ELAV-like 4 isoform 1							111.0	113.0	112.0					1																	50661352		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50661352G>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.628G>T	1.37:g.50661352G>T	ENSP00000360888:p.Ala210Ser					ELAVL4_uc001cry.3_Missense_Mutation_p.A213S|ELAVL4_uc001crz.3_Missense_Mutation_p.A210S|ELAVL4_uc001csa.3_Missense_Mutation_p.A227S|ELAVL4_uc001csc.3_Missense_Mutation_p.A210S|ELAVL4_uc009vyu.2_Missense_Mutation_p.A215S|ELAVL4_uc010omz.1_Missense_Mutation_p.A215S	p.A210S	NM_021952	NP_068771	P26378	ELAV4_HUMAN			5	896	+			210			RRM 2.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.628G>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497160	0.96355	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1;3.1	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	M	0.64630	1.985	0.80722	D	1	P;D;P;P;P;P;P	0.54772	0.82;0.968;0.956;0.82;0.887;0.614;0.82	P;P;D;P;P;P;P	0.65874	0.558;0.87;0.939;0.558;0.743;0.628;0.558	T	0.00006	-1.2509	10	0.46703	T	0.11	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	215;215;210;210;227;210;213	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	S	213;210;227;210;210;215;215	ENSP00000399939:A213S;ENSP00000360892:A210S;ENSP00000349594:A227S;ENSP00000360889:A210S;ENSP00000360888:A210S;ENSP00000360886:A215S;ENSP00000360884:A215S	ENSP00000349594:A227S	A	+	1	0	ELAVL4	50433939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.906000	0.99361	0.655000	0.94253	GCC		0.572	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		57	94	1	0	4.55e-40	7.65e-40	57	94				
ORC1	4998	broad.mit.edu	37	1	52854210	52854210	+	Silent	SNP	C	C	T	rs61756135		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:52854210C>T	ENST00000371568.3	-	8	1505	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P	ORC1_ENST00000371566.1_Silent_p.P429P	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	429					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTGGAAGGGGCGGTGTGGAAG	0.483																																						uc001ctt.2		NA																	0					0						c.(1285-1287)CCG>CCA		origin recognition complex, subunit 1							212.0	191.0	198.0					1																	52854210		2203	4300	6503	SO:0001819	synonymous_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52854210C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1287G>A	1.37:g.52854210C>T						ORC1L_uc010oni.1_Silent_p.P429P|ORC1L_uc001ctu.2_Silent_p.P429P|ORC1L_uc009vzd.2_Silent_p.P183P	p.P429P	NM_004153	NP_004144	Q13415	ORC1_HUMAN			8	1506	-			429					D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	c.1287G>A	CCDS566.1																																																																																				0.483	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		8	180	0	0	0	0	8	180				
FAM73A	374986	broad.mit.edu	37	1	78279429	78279429	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:78279429G>A	ENST00000370791.3	+	6	680	c.648G>A	c.(646-648)ttG>ttA	p.L216L	FAM73A_ENST00000443751.2_Silent_p.L178L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	216						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTATGGAATTGTTTGAAGAGG	0.388																																						uc001dhx.2		NA																	0				ovary(1)	1						c.(646-648)TTG>TTA		hypothetical protein LOC374986							150.0	149.0	149.0					1																	78279429		2203	4300	6503	SO:0001819	synonymous_variant	374986					integral to membrane		g.chr1:78279429G>A		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.648G>A	1.37:g.78279429G>A						FAM73A_uc010ork.1_Silent_p.L216L|FAM73A_uc010orl.1_Silent_p.L178L|FAM73A_uc001dhy.1_Silent_p.L5L	p.L216L	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	6	680	+			216					Q6MZG0	Silent	SNP	ENST00000370791.3	37	c.648G>A	CCDS681.1																																																																																				0.388	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		45	50	0	0	0	0	45	50				
MCOLN3	55283	broad.mit.edu	37	1	85498622	85498622	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:85498622G>C	ENST00000370589.2	-	5	620	c.568C>G	c.(568-570)Cca>Gca	p.P190A	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.P134A|MCOLN3_ENST00000370587.1_Missense_Mutation_p.P190A	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	190					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGTTCATCTGGCTCCACAAAG	0.398																																						uc001dkp.2		NA																	0				skin(1)	1						c.(568-570)CCA>GCA		mucolipin 3							210.0	206.0	207.0					1																	85498622		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85498622G>C	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.568C>G	1.37:g.85498622G>C	ENSP00000359621:p.Pro190Ala					MCOLN3_uc001dkq.2_Missense_Mutation_p.P134A|MCOLN3_uc001dkr.2_Missense_Mutation_p.P190A|MCOLN3_uc001dks.3_Missense_Mutation_p.P35A	p.P190A	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	5	661	-			190					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.568C>G	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865515	0.51588	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	D;D;D	0.91894	-2.93;-2.93;-2.93	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.76002	2.32	0.51767	D	0.999933	D;D;D;D	0.89917	0.989;0.984;1.0;1.0	P;P;D;D	0.97110	0.83;0.785;1.0;0.999	D	0.92791	0.6248	10	0.32370	T	0.25	.	12.8924	0.58080	0.074:0.0:0.926:0.0	.	190;190;134;190	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	A	190;190;134;134;190	ENSP00000359621:P190A;ENSP00000342698:P134A;ENSP00000359619:P190A	ENSP00000304843:P190A	P	-	1	0	MCOLN3	85271210	1.000000	0.71417	0.516000	0.27786	0.585000	0.36419	6.581000	0.74045	2.627000	0.88993	0.650000	0.86243	CCA		0.398	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		110	126	0	0	0	0	110	126				
CCDC18	343099	broad.mit.edu	37	1	93672782	93672782	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:93672782G>C	ENST00000343253.7	+	9	1538	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	CCDC18_ENST00000338949.4_Missense_Mutation_p.E145Q|CCDC18_ENST00000557479.1_Missense_Mutation_p.E464Q|CCDC18_ENST00000401026.3_Missense_Mutation_p.E346Q|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	346										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GCTAGAGAGTGAGTTAGAGAA	0.353																																						uc001dpq.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1390-1392)GAG>CAG		sarcoma antigen NY-SAR-41							59.0	54.0	56.0					1																	93672782		1834	4080	5914	SO:0001583	missense	343099							g.chr1:93672782G>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1036G>C	1.37:g.93672782G>C	ENSP00000343377:p.Glu346Gln					CCDC18_uc009wdl.1_Missense_Mutation_p.E25Q	p.E464Q	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	9	1558	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	346			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1390G>C		.	.	.	.	.	.	.	.	.	.	G	16.39	3.109012	0.56398	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.83	5.83	0.93111	.	0.226336	0.44902	D	0.000403	T	0.15565	0.0375	L	0.50333	1.59	0.80722	D	1	P;P	0.50272	0.873;0.933	P;P	0.47346	0.544;0.544	T	0.01273	-1.1399	10	0.31617	T	0.26	.	12.591	0.56443	0.0758:0.0:0.9242:0.0	.	346;464	Q5T9S5;G3V388	CCD18_HUMAN;.	Q	346;346;464;145;66	ENSP00000343377:E346Q;ENSP00000383808:E346Q;ENSP00000451099:E464Q;ENSP00000344380:E145Q;ENSP00000391151:E66Q	ENSP00000344380:E145Q	E	+	1	0	CCDC18	93445370	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	3.284000	0.51708	2.763000	0.94921	0.555000	0.69702	GAG		0.353	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		7	36	0	0	0	0	7	36				
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						uc001dwa.2		NA																	0				ovary(3)	3						c.(1858-1860)AAG>AGG		hypothetical protein LOC254268							183.0	188.0	186.0					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_uc010ovb.1_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.2_RNA	p.K620R	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			11	2128	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		4	219	0	0	0	0	4	219				
WDR47	22911	broad.mit.edu	37	1	109538250	109538250	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:109538250G>C	ENST00000369962.3	-	8	1865	c.1643C>G	c.(1642-1644)tCa>tGa	p.S548*	WDR47_ENST00000400794.3_Nonsense_Mutation_p.S556*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.S520*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.S549*|WDR47_ENST00000357672.3_Nonsense_Mutation_p.S520*			O94967	WDR47_HUMAN	WD repeat domain 47	548					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GTGATTTGTTGATCCAGGATT	0.373																																						uc001dwj.2		NA																	0				ovary(1)	1						c.(1642-1644)TCA>TGA		WD repeat domain 47 isoform 3							238.0	241.0	240.0					1																	109538250		2203	4296	6499	SO:0001587	stop_gained	22911							g.chr1:109538250G>C	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1643C>G	1.37:g.109538250G>C	ENSP00000358979:p.Ser548*					WDR47_uc001dwl.2_Nonsense_Mutation_p.S556*|WDR47_uc001dwi.2_Nonsense_Mutation_p.S549*|WDR47_uc001dwk.2_Nonsense_Mutation_p.S520*|WDR47_uc010ovf.1_Nonsense_Mutation_p.S475*	p.S548*	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	8	2019	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	548					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.1643C>G	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	41	8.672457	0.98910	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	.	.	.	5.51	4.6	0.57074	.	0.300975	0.32386	N	0.006165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-9.5272	14.6825	0.69028	0.0701:0.0:0.9299:0.0	.	.	.	.	X	556;548;520;549;520	.	ENSP00000350301:S520X	S	-	2	0	WDR47	109339773	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.787000	0.69013	1.470000	0.48102	0.462000	0.41574	TCA		0.373	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		37	235	0	0	0	0	37	235				
PTPN22	26191	broad.mit.edu	37	1	114397643	114397643	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:114397643T>C	ENST00000359785.5	-	8	704	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.Y190C|PTPN22_ENST00000534519.1_5'Flank|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.Y190C|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	190	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAATTCTTGTAATGAAACTG	0.438																																						uc001eds.2		NA																	0				kidney(2)|lung(1)|skin(1)	4						c.(568-570)TAC>TGC		protein tyrosine phosphatase, non-receptor type							150.0	136.0	141.0					1																	114397643		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114397643T>C	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.569A>G	1.37:g.114397643T>C	ENSP00000352833:p.Tyr190Cys					uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.Y190C|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Y190C|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.Y190C	p.Y190C	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	699	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	190			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.569A>G	CCDS863.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650220	0.87958	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000420377;ENST00000354605	D;T;D	0.85013	-1.93;2.46;-1.93	6.16	6.16	0.99307	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.92090	0.7493	M	0.85099	2.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.996;0.994	D	0.93250	0.6634	10	0.87932	D	0	.	15.7887	0.78332	0.0:0.0:0.0:1.0	.	190;190;190;190	E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;PTN22_HUMAN	C	190	ENSP00000352833:Y190C;ENSP00000435176:Y190C;ENSP00000388229:Y190C	ENSP00000346621:Y190C	Y	-	2	0	PTPN22	114199166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.528000	0.81941	2.367000	0.80283	0.528000	0.53228	TAC		0.438	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		30	36	0	0	0	0	30	36				
BCL9	607	broad.mit.edu	37	1	147095739	147095739	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:147095739C>G	ENST00000234739.3	+	10	4000	c.3260C>G	c.(3259-3261)tCt>tGt	p.S1087C		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1087	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAGCCACTTTCTCACTCCAAT	0.527			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(3259-3261)TCT>TGT		B-cell CLL/lymphoma 9							164.0	171.0	168.0					1																	147095739		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147095739C>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3260C>G	1.37:g.147095739C>G	ENSP00000234739:p.Ser1087Cys					BCL9_uc010ozr.1_Missense_Mutation_p.S1001C	p.S1087C	NM_004326	NP_004317	O00512	BCL9_HUMAN			10	4000	+	all_hematologic(923;0.115)		1087			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3260C>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478918	0.63849	.	.	ENSG00000116128	ENST00000234739	T	0.62232	0.04	4.61	4.61	0.57282	.	0.123969	0.56097	D	0.000027	T	0.63260	0.2496	L	0.52573	1.65	0.58432	D	0.999994	D;D	0.59767	0.986;0.986	P;P	0.54499	0.754;0.754	T	0.68303	-0.5444	10	0.87932	D	0	-14.7059	17.9829	0.89147	0.0:1.0:0.0:0.0	.	1087;1087	Q1JQ81;O00512	.;BCL9_HUMAN	C	1087	ENSP00000234739:S1087C	ENSP00000234739:S1087C	S	+	2	0	BCL9	145562363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.053000	0.76641	2.557000	0.86248	0.655000	0.94253	TCT		0.527	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	468	0	0	0	0	4	468				
HIST2H2BF	440689	broad.mit.edu	37	1	149783712	149783712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:149783712G>T	ENST00000369167.1	-	1	202	c.167C>A	c.(166-168)tCg>tAg	p.S56*	HIST2H2BF_ENST00000427880.2_Nonsense_Mutation_p.S56*|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Nonsense_Mutation_p.S56*|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	56					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGCCTTGGACGAGATGCCGGT	0.607																																						uc001esr.2		NA																	0					0						c.(166-168)TCG>TAG		histone cluster 2, H2bf isoform a							152.0	140.0	144.0					1																	149783712		2203	4297	6500	SO:0001587	stop_gained	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783712G>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.167C>A	1.37:g.149783712G>T	ENSP00000358164:p.Ser56*					HIST2H2BF_uc010pbj.1_Nonsense_Mutation_p.S56*|HIST2H2BF_uc010pbk.1_Nonsense_Mutation_p.S56*	p.S56*	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN			1	217	-	Breast(34;0.0124)|all_hematologic(923;0.127)		56					A8K0U9|B4DLA9	Nonsense_Mutation	SNP	ENST00000369167.1	37	c.167C>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242851	0.95272	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	.	.	.	3.52	3.52	0.40303	.	0.000000	0.42548	D	0.000697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9173	0.70807	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000358164:S56X	S	-	2	0	HIST2H2BF	148050336	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	6.996000	0.76263	2.283000	0.76528	0.184000	0.17185	TCG		0.607	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		134	313	1	0	5.71e-70	9.74e-70	134	313				
HIST2H2AB	317772	broad.mit.edu	37	1	149859080	149859080	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:149859080G>T	ENST00000331128.3	-	1	386	c.387C>A	c.(385-387)aaC>aaA	p.N129K	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	129						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTAATTACTTGTTCTTGCCAG	0.498																																						uc001ete.2		NA																	0				ovary(1)|breast(1)	2						c.(385-387)AAC>AAA		histone cluster 2, H2ab							84.0	87.0	86.0					1																	149859080		2203	4300	6503	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859080G>T	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.387C>A	1.37:g.149859080G>T	ENSP00000332790:p.Asn129Lys					HIST2H2BE_uc001etc.2_5'Flank	p.N129K	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	387	-	Breast(34;0.0124)|all_hematologic(923;0.127)		129						Missense_Mutation	SNP	ENST00000331128.3	37	c.387C>A	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	4.884	0.164315	0.09287	.	.	ENSG00000184270	ENST00000331128	D	0.89810	-2.57	4.98	0.926	0.19430	.	0.263047	0.30890	N	0.008677	T	0.58177	0.2104	N	0.08118	0	0.29660	N	0.84327	B	0.02656	0.0	B	0.01281	0.0	T	0.50947	-0.8767	10	0.52906	T	0.07	.	7.4472	0.27217	0.4938:0.0:0.5062:0.0	.	129	Q8IUE6	H2A2B_HUMAN	K	129	ENSP00000332790:N129K	ENSP00000332790:N129K	N	-	3	2	HIST2H2AB	148125704	0.138000	0.22547	0.602000	0.28890	0.657000	0.38888	0.437000	0.21543	-0.016000	0.14127	0.561000	0.74099	AAC		0.498	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		67	86	1	0	7.59e-32	1.25e-31	67	86				
RPTN	126638	broad.mit.edu	37	1	152128090	152128090	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:152128090C>G	ENST00000316073.3	-	3	1549	c.1485G>C	c.(1483-1485)caG>caC	p.Q495H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	495	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AATGATAACTCTGGTCTTGTC	0.498																																						uc001ezs.1		NA																	0					0						c.(1483-1485)CAG>CAC		repetin							833.0	720.0	755.0					1																	152128090		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128090C>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1485G>C	1.37:g.152128090C>G	ENSP00000317895:p.Gln495His						p.Q495H	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1550	-			495			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1485G>C	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547849	0.45383	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.15017	2.46	4.81	-6.43	0.01926	.	0.750707	0.10212	U	0.701996	T	0.12263	0.0298	M	0.69523	2.12	0.09310	N	1	D	0.76494	0.999	D	0.66497	0.944	T	0.05386	-1.0888	10	0.37606	T	0.19	.	0.4128	0.00444	0.2123:0.2912:0.2091:0.2874	.	495	Q6XPR3	RPTN_HUMAN	H	495;150	ENSP00000317895:Q495H	ENSP00000317895:Q495H	Q	-	3	2	RPTN	150394714	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.439000	0.06897	-0.844000	0.04184	-1.316000	0.01300	CAG		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	949	0	0	0	0	6	949				
FLG	2312	broad.mit.edu	37	1	152275982	152275982	+	Nonsense_Mutation	SNP	G	G	A	rs562201369		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:152275982G>A	ENST00000368799.1	-	3	11415	c.11380C>T	c.(11380-11382)Cag>Tag	p.Q3794*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3794	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTTCCCTGGGATGTGGTG	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11380-11382)CAG>TAG		filaggrin							354.0	345.0	348.0					1																	152275982		2203	4297	6500	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275982G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11380C>T	1.37:g.152275982G>A	ENSP00000357789:p.Gln3794*						p.Q3794*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11416	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3794			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.11380C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	50	16.546502	0.99866	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.02	2.02	0.26589	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	7.6625	0.28410	0.0:0.0:1.0:0.0	.	.	.	.	X	3794	.	ENSP00000357789:Q3794X	Q	-	1	0	FLG	150542606	.	.	0.001000	0.08648	0.009000	0.06853	.	.	1.471000	0.48121	0.552000	0.68991	CAG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		285	564	0	0	0	0	285	564				
FLG	2312	broad.mit.edu	37	1	152283008	152283008	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:152283008C>G	ENST00000368799.1	-	3	4389	c.4354G>C	c.(4354-4356)Gag>Cag	p.E1452Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1452	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGGACTCAGACTGTTCA	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4354-4356)GAG>CAG		filaggrin							216.0	208.0	211.0					1																	152283008		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283008C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4354G>C	1.37:g.152283008C>G	ENSP00000357789:p.Glu1452Gln					uc001ezv.2_5'Flank	p.E1452Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4390	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1452			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4354G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402441	0.25291	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.55	-1.21	0.09524	.	.	.	.	.	T	0.00784	0.0026	M	0.80616	2.505	0.09310	N	1	B	0.30281	0.275	B	0.24155	0.051	T	0.42916	-0.9423	9	0.21540	T	0.41	.	4.5465	0.12083	0.0:0.4006:0.3676:0.2319	.	1452	P20930	FILA_HUMAN	Q	1452	ENSP00000357789:E1452Q	ENSP00000357789:E1452Q	E	-	1	0	FLG	150549632	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.172000	0.16704	-0.003000	0.14444	0.556000	0.70494	GAG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	608	0	0	0	0	10	608				
C1orf85	112770	broad.mit.edu	37	1	156263979	156263979	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:156263979G>C	ENST00000362007.1	-	4	654	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	210					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GCTGTGTGCAGGAGGCGAGGG	0.607																																						uc001foh.2		NA																	0				ovary(2)	2						c.(628-630)CTG>GTG		kidney predominant protein NCU-G1 precursor							47.0	48.0	48.0					1																	156263979		2203	4300	6503	SO:0001583	missense	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156263979G>C	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.628C>G	1.37:g.156263979G>C	ENSP00000354553:p.Leu210Val					C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Missense_Mutation_p.L210V|C1orf85_uc009wrx.2_Missense_Mutation_p.L143V|C1orf85_uc001foj.2_Missense_Mutation_p.L124V	p.L210V	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN			4	641	-	Hepatocellular(266;0.158)		210			Lumenal (Potential).		A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	ENST00000362007.1	37	c.628C>G	CCDS1139.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258520	0.80246	.	.	ENSG00000198715	ENST00000362007;ENST00000368264	T;T	0.26660	1.72;1.72	5.53	4.61	0.57282	.	0.082167	0.49916	D	0.000140	T	0.32315	0.0825	M	0.71581	2.175	0.37917	D	0.931569	D;D	0.65815	0.995;0.987	P;P	0.56278	0.795;0.724	T	0.05616	-1.0874	10	0.48119	T	0.1	-0.0109	12.6447	0.56728	0.0828:0.0:0.9172:0.0	.	129;210	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	V	210;124	ENSP00000354553:L210V;ENSP00000357247:L124V	ENSP00000354553:L210V	L	-	1	2	C1orf85	154530603	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.670000	0.46833	2.611000	0.88343	0.462000	0.41574	CTG		0.607	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		15	80	0	0	0	0	15	80				
CD5L	922	broad.mit.edu	37	1	157803289	157803289	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:157803289C>G	ENST00000368174.4	-	5	828	c.732G>C	c.(730-732)ttG>ttC	p.L244F	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	244	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTACTAGTCTCAAGTCAAAGG	0.478																																						uc001frk.3		NA																	0				ovary(1)	1						c.(730-732)TTG>TTC		CD5 molecule-like precursor							75.0	81.0	79.0					1																	157803289		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803289C>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.732G>C	1.37:g.157803289C>G	ENSP00000357156:p.Leu244Phe						p.L244F	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	875	-	all_hematologic(112;0.0378)		244			SRCR 3.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.732G>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	8.604	0.887586	0.17540	.	.	ENSG00000073754	ENST00000368174	T	0.33865	1.39	4.88	3.02	0.34903	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.367614	0.22669	N	0.057095	T	0.37732	0.1014	M	0.82056	2.57	0.20403	N	0.999904	D	0.71674	0.998	P	0.62382	0.901	T	0.27502	-1.0072	10	0.72032	D	0.01	.	4.5735	0.12221	0.1733:0.6446:0.0:0.1821	.	244	O43866	CD5L_HUMAN	F	244	ENSP00000357156:L244F	ENSP00000357156:L244F	L	-	3	2	CD5L	156069913	0.117000	0.22190	0.010000	0.14722	0.014000	0.08584	0.171000	0.16685	0.659000	0.30945	-0.123000	0.14984	TTG		0.478	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		4	208	0	0	0	0	4	208				
OR10X1	128367	broad.mit.edu	37	1	158549486	158549486	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:158549486G>C	ENST00000368150.1	-	1	203	c.204C>G	c.(202-204)gaC>gaG	p.D68E		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGAGGGACCTGTCCACCCAAG	0.478																																						uc010pin.1		NA																	0				ovary(1)	1						c.(202-204)GAC>GAG		olfactory receptor, family 10, subfamily X,							130.0	124.0	126.0					1																	158549486		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549486G>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.204C>G	1.37:g.158549486G>C	ENSP00000357132:p.Asp68Glu						p.D68E	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	204	-	all_hematologic(112;0.0378)		68			Cytoplasmic (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.204C>G	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	9.214	1.031739	0.19590	.	.	ENSG00000186400	ENST00000368150	T	0.02709	4.19	5.13	0.751	0.18392	GPCR, rhodopsin-like superfamily (1);	0.124327	0.36200	N	0.002724	T	0.00695	0.0023	L	0.31120	0.905	0.09310	N	1	B	0.22683	0.073	B	0.22386	0.039	T	0.47774	-0.9091	10	0.51188	T	0.08	.	2.9103	0.05734	0.1673:0.2287:0.4784:0.1257	.	68	Q8NGY0	O10X1_HUMAN	E	68	ENSP00000357132:D68E	ENSP00000357132:D68E	D	-	3	2	OR10X1	156816110	0.000000	0.05858	0.950000	0.38849	0.781000	0.44180	-0.073000	0.11468	0.264000	0.21851	0.650000	0.86243	GAC		0.478	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		41	109	0	0	0	0	41	109				
OR6K6	128371	broad.mit.edu	37	1	158725260	158725260	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:158725260G>A	ENST00000368144.2	+	1	751	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GGCCTGCACAGATACATTCCT	0.473																																						uc001fsw.1		NA																	0				skin(1)	1						c.(655-657)GAT>AAT		olfactory receptor, family 6, subfamily K,							131.0	111.0	118.0					1																	158725260		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725260G>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.655G>A	1.37:g.158725260G>A	ENSP00000357126:p.Asp219Asn						p.D219N	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	655	+	all_hematologic(112;0.0378)		219			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.655G>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263811	0.80358	.	.	ENSG00000180433	ENST00000368144	T	0.00231	8.49	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000323	T	0.00210	0.0006	M	0.64080	1.96	0.36132	D	0.846189	D	0.54207	0.965	P	0.52758	0.708	D	0.87381	0.2357	10	0.54805	T	0.06	-13.9388	18.27	0.90065	0.0:0.0:1.0:0.0	.	219	Q8NGW6	OR6K6_HUMAN	N	219	ENSP00000357126:D219N	ENSP00000357126:D219N	D	+	1	0	OR6K6	156991884	0.980000	0.34600	1.000000	0.80357	0.975000	0.68041	3.010000	0.49559	2.848000	0.98002	0.655000	0.94253	GAT		0.473	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		36	104	0	0	0	0	36	104				
MPZL1	9019	broad.mit.edu	37	1	167742587	167742587	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:167742587C>G	ENST00000359523.2	+	4	789	c.587C>G	c.(586-588)tCt>tGt	p.S196C	MPZL1_ENST00000474859.1_Missense_Mutation_p.S196C|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	196					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AGGAAAAACTCTAAACGGGAT	0.438																																						uc001geo.2		NA																	0				ovary(2)	2						c.(586-588)TCT>TGT		myelin protein zero-like 1 isoform a							99.0	95.0	96.0					1																	167742587		2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167742587C>G	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.587C>G	1.37:g.167742587C>G	ENSP00000352513:p.Ser196Cys					MPZL1_uc001gen.3_Missense_Mutation_p.S196C|MPZL1_uc001gep.2_Missense_Mutation_p.S196C|MPZL1_uc001geq.2_Intron|MPZL1_uc009wvh.2_RNA	p.S196C	NM_003953	NP_003944	O95297	MPZL1_HUMAN			4	789	+	all_hematologic(923;0.215)		196			Cytoplasmic (Potential).		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.587C>G	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628844	0.46944	.	.	ENSG00000197965	ENST00000359523;ENST00000474859;ENST00000367853	D;D;D	0.97598	-3.99;-4.45;-4.43	4.36	2.21	0.28008	.	0.470065	0.21387	N	0.075373	D	0.93566	0.7946	L	0.32530	0.975	0.33875	D	0.635385	D;P	0.59767	0.986;0.926	P;P	0.53062	0.717;0.525	D	0.91581	0.5279	9	0.44086	T	0.13	.	10.6665	0.45734	0.1483:0.7083:0.1434:0.0	.	196;196	O95297-3;O95297	.;MPZL1_HUMAN	C	196;196;170	ENSP00000352513:S196C;ENSP00000420455:S196C;ENSP00000356827:S170C	ENSP00000352513:S196C	S	+	2	0	MPZL1	166009211	0.998000	0.40836	0.472000	0.27241	0.996000	0.88848	2.063000	0.41423	1.102000	0.41551	0.563000	0.77884	TCT		0.438	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		7	106	0	0	0	0	7	106				
F5	2153	broad.mit.edu	37	1	169510654	169510654	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:169510654G>T	ENST00000367797.3	-	13	3875	c.3674C>A	c.(3673-3675)gCc>gAc	p.A1225D	F5_ENST00000367796.3_Missense_Mutation_p.A1230D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1225	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGACCGAGGGCTGGGGAAAG	0.532																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3673-3675)GCC>GAC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						216.0	236.0	229.0					1																	169510654		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510654G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3674C>A	1.37:g.169510654G>T	ENSP00000356771:p.Ala1225Asp						p.A1225D	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3819	-	all_hematologic(923;0.208)		1225			2-5.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3674C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.628359	0.00813	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.30981	1.51;1.51	3.09	-1.69	0.08186	.	1.653010	0.04280	N	0.343756	T	0.01387	0.0045	N	0.00135	-2.02	0.20403	N	0.999908	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	9	0.02654	T	1	.	8.0824	0.30752	0.0:0.0:0.4104:0.5896	.	1225	P12259	FA5_HUMAN	D	1225;1230	ENSP00000356771:A1225D;ENSP00000356770:A1230D	ENSP00000356770:A1230D	A	-	2	0	F5	167777278	0.007000	0.16637	0.001000	0.08648	0.002000	0.02628	-1.162000	0.03141	0.231000	0.21079	-1.220000	0.01600	GCC		0.532	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		204	448	1	0	6.21e-80	1.06e-79	204	448				
BRINP3	339479	broad.mit.edu	37	1	190067943	190067943	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:190067943C>T	ENST00000367462.3	-	8	1737	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	BRINP3_ENST00000534846.1_Silent_p.Q400Q	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	502					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGTCCGTTTTCTGCAGCAGAT	0.498																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1504-1506)CAG>CAA		family with sequence similarity 5, member C							157.0	153.0	154.0					1																	190067943		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067943C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1506G>A	1.37:g.190067943C>T						FAM5C_uc010pot.1_Silent_p.Q400Q	p.Q502Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1738	-	Prostate(682;0.198)		502					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1506G>A	CCDS1373.1																																																																																				0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		51	239	0	0	0	0	51	239				
PIGR	5284	broad.mit.edu	37	1	207110641	207110641	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:207110641C>A	ENST00000356495.4	-	4	1027	c.844G>T	c.(844-846)Gtc>Ttc	p.V282F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	282	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTGTTGACGACCACGTCACAG	0.602																																						uc001hez.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(844-846)GTC>TTC		polymeric immunoglobulin receptor precursor							81.0	78.0	79.0					1																	207110641		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207110641C>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.844G>T	1.37:g.207110641C>A	ENSP00000348888:p.Val282Phe					PIGR_uc009xbz.2_Missense_Mutation_p.V282F	p.V282F	NM_002644	NP_002635	P01833	PIGR_HUMAN			4	1028	-			282			Ig-like V-type 3.|Extracellular (Potential).		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.844G>T	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858664	0.32791	.	.	ENSG00000162896	ENST00000356495	T	0.68479	-0.33	5.79	-0.429	0.12303	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.490245	0.20508	N	0.090943	T	0.73999	0.3659	M	0.81497	2.545	0.19300	N	0.999973	D	0.57899	0.981	P	0.60949	0.881	T	0.64305	-0.6439	10	0.62326	D	0.03	-8.8404	4.8643	0.13600	0.0:0.3327:0.2728:0.3945	.	282	P01833	PIGR_HUMAN	F	282	ENSP00000348888:V282F	ENSP00000348888:V282F	V	-	1	0	PIGR	205177264	0.000000	0.05858	0.190000	0.23270	0.009000	0.06853	-0.768000	0.04715	-0.340000	0.08388	-0.819000	0.03115	GTC		0.602	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		39	96	1	0	1.07e-22	1.72e-22	39	96				
TRAF3IP3	80342	broad.mit.edu	37	1	209933400	209933400	+	Missense_Mutation	SNP	C	C	T	rs151094826		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:209933400C>T	ENST00000367024.1	+	3	532	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.P6S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	6						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)		CAGCCCAGACCCCAGGCCCTC	0.602																																						uc001hho.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(16-18)CCC>TCC		TRAF3-interacting JNK-activating modulator		C	SER/PRO	1,4395		0,1,2197	29.0	27.0	28.0		16	1.0	0.9	1	dbSNP_134	28	3,8581		0,3,4289	yes	missense	TRAF3IP3	NM_025228.2	74	0,4,6486	TT,TC,CC		0.0349,0.0227,0.0308	benign	6/552	209933400	4,12976	2198	4292	6490	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933400C>T		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.16C>T	1.37:g.209933400C>T	ENSP00000355991:p.Pro6Ser					TRAF3IP3_uc001hhl.2_Missense_Mutation_p.P6S|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.P6S|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.P6S|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.P6S	p.P6S	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	306	+			6			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.16C>T	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246958	0.22796	2.27E-4	3.49E-4	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000479796;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.66	1.02	0.19986	.	0.561993	0.17500	N	0.172012	T	0.21801	0.0525	N	0.17674	0.51	0.09310	N	0.999999	B;B;B;B	0.22541	0.071;0.007;0.065;0.004	B;B;B;B	0.28011	0.085;0.007;0.041;0.005	T	0.19063	-1.0317	10	0.15499	T	0.54	-1.5725	3.3993	0.07317	0.0:0.4226:0.2011:0.3763	.	6;6;6;6	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	S	6	ENSP00000383743:P6S;ENSP00000355992:P6S;ENSP00000355993:P6S;ENSP00000355991:P6S;ENSP00000010338:P6S	ENSP00000010338:P6S	P	+	1	0	TRAF3IP3	208000023	0.052000	0.20516	0.918000	0.36340	0.851000	0.48451	0.376000	0.20535	0.296000	0.22592	-0.150000	0.13652	CCC		0.602	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			18	50	0	0	0	0	18	50				
USH2A	7399	broad.mit.edu	37	1	215848133	215848133	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:215848133C>T	ENST00000307340.3	-	63	13506	c.13120G>A	c.(13120-13122)Gta>Ata	p.V4374I	USH2A_ENST00000366943.2_Missense_Mutation_p.V4374I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4374	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACCAACATACATTCATTTGA	0.488										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13120-13122)GTA>ATA		usherin isoform B							52.0	54.0	54.0					1																	215848133		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848133C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13120G>A	1.37:g.215848133C>T	ENSP00000305941:p.Val4374Ile	HNSCC(13;0.011)					p.V4374I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13507	-			4374			Extracellular (Potential).|Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13120G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	3.154	-0.173595	0.06421	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	5.12	3.24	0.37175	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.199220	0.24029	U	0.042214	T	0.44891	0.1315	L	0.53729	1.69	0.09310	N	1	B	0.19200	0.034	B	0.19666	0.026	T	0.41484	-0.9506	10	0.52906	T	0.07	.	7.2176	0.25969	0.137:0.7182:0.0:0.1448	.	4374	O75445	USH2A_HUMAN	I	4374	ENSP00000305941:V4374I;ENSP00000355910:V4374I	ENSP00000305941:V4374I	V	-	1	0	USH2A	213914756	0.011000	0.17503	0.012000	0.15200	0.050000	0.14768	1.803000	0.38863	0.560000	0.29169	0.467000	0.42956	GTA		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		27	61	0	0	0	0	27	61				
ESRRG	2104	broad.mit.edu	37	1	216850476	216850476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:216850476G>C	ENST00000408911.3	-	2	567	c.414C>G	c.(412-414)taC>taG	p.Y138*	ESRRG_ENST00000366940.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.Y143*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000391890.3_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.Y115*	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	138					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCCCATAGTGGTACCCAGAAG	0.498																																						uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(412-414)TAC>TAG		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						161.0	141.0	147.0					1																	216850476		2203	4300	6503	SO:0001587	stop_gained	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850476G>C	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.414C>G	1.37:g.216850476G>C	ENSP00000386171:p.Tyr138*					ESRRG_uc001hky.1_Nonsense_Mutation_p.Y115*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.Y115*|ESRRG_uc010puc.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hla.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.Y115*|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hld.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.Y143*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hle.1_Nonsense_Mutation_p.Y115*	p.Y138*	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	580	-			138			Nuclear receptor.|NR C4-type.		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Nonsense_Mutation	SNP	ENST00000408911.3	37	c.414C>G	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	36	5.833811	0.97003	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	.	.	.	6.01	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.03	0.47767	0.2005:0.0:0.7995:0.0	.	.	.	.	X	115;115;143;138;115;115;115;115;115;115;115;115;115;115;115	.	ENSP00000346386:Y115X	Y	-	3	2	ESRRG	214917099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.921000	0.63397	0.863000	0.35553	0.650000	0.86243	TAC		0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		56	138	0	0	0	0	56	138				
LBR	3930	broad.mit.edu	37	1	225598118	225598118	+	Splice_Site	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:225598118C>A	ENST00000338179.2	-	10	1314	c.1189G>T	c.(1189-1191)Gtg>Ttg	p.V397L	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Splice_Site_p.V397L	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	397					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTAATAACCACCTGAAACAAA	0.448																																						uc001hoy.2		NA																	0				ovary(1)|skin(1)	2						c.(1189-1191)GTG>TTG		lamin B receptor							84.0	82.0	83.0					1																	225598118		2203	4300	6503	SO:0001630	splice_region_variant	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225598118C>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1189-1G>T	1.37:g.225598118C>A						LBR_uc001hoz.2_Missense_Mutation_p.V397L|LBR_uc001hpa.1_Missense_Mutation_p.V397L	p.V397L	NM_002296	NP_002287	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	10	1332	-	Breast(184;0.165)		397			Helical; (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1189G>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657309	0.67586	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.97791	-4.54;-4.54;-4.54	5.76	5.76	0.90799	.	0.241677	0.40302	N	0.001125	D	0.96738	0.8935	L	0.47078	1.49	0.80722	D	1	P	0.37688	0.605	B	0.42138	0.377	D	0.95639	0.8696	10	0.36615	T	0.2	-28.9302	20.3242	0.98691	0.0:1.0:0.0:0.0	.	397	Q14739	LBR_HUMAN	L	397;397;28	ENSP00000272163:V397L;ENSP00000339883:V397L;ENSP00000397817:V28L	ENSP00000272163:V397L	V	-	1	0	LBR	223664741	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.851000	0.69481	2.882000	0.98803	0.655000	0.94253	GTG		0.448	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	Missense_Mutation	41	83	1	0	1.47e-15	2.24e-15	41	83				
SDE2	163859	broad.mit.edu	37	1	226176001	226176001	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:226176001T>C	ENST00000272091.7	-	6	748	c.730A>G	c.(730-732)Atg>Gtg	p.M244V		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	244																	TGGAAACCCATTCCTGAAGTG	0.498																																						uc001hpu.3		NA																	0				lung(1)	1						c.(730-732)ATG>GTG		hypothetical protein LOC163859							154.0	151.0	152.0					1																	226176001		1993	4168	6161	SO:0001583	missense	163859							g.chr1:226176001T>C	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.730A>G	1.37:g.226176001T>C	ENSP00000272091:p.Met244Val					C1orf55_uc001hpv.2_Missense_Mutation_p.M244V	p.M244V	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			6	783	-	Breast(184;0.197)		244					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.730A>G	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	T	6.629	0.484483	0.12641	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.42131	1.02;0.98	5.86	-0.863	0.10669	.	1.625600	0.02518	N	0.092240	T	0.25938	0.0632	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.13072	-1.0523	10	0.26408	T	0.33	0.1584	6.5292	0.22318	0.0:0.3627:0.17:0.4672	.	232;244	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	V	244;232;149	ENSP00000272091:M244V;ENSP00000355782:M149V	ENSP00000272091:M244V	M	-	1	0	C1orf55	224242624	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.288000	0.08377	-0.155000	0.11098	0.528000	0.53228	ATG		0.498	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		92	204	0	0	0	0	92	204				
TTC13	79573	broad.mit.edu	37	1	231069578	231069578	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:231069578C>G	ENST00000366661.4	-	9	937	c.930G>C	c.(928-930)ttG>ttC	p.L310F	TTC13_ENST00000366662.4_Missense_Mutation_p.L257F|TTC13_ENST00000414259.1_Missense_Mutation_p.L257F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	310										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTTTCTGCTTCAAAGCTTCTT	0.328																																						uc001huf.3		NA																	0				ovary(1)|skin(1)	2						c.(928-930)TTG>TTC		tetratricopeptide repeat domain 13 isoform a							63.0	67.0	66.0					1																	231069578		2203	4299	6502	SO:0001583	missense	79573						binding	g.chr1:231069578C>G		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.930G>C	1.37:g.231069578C>G	ENSP00000355621:p.Leu310Phe					TTC13_uc009xfi.2_Missense_Mutation_p.L257F|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.L257F|TTC13_uc009xfk.1_Missense_Mutation_p.L200F	p.L310F	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	9	961	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	310			TPR 4.		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.930G>C	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157475|4.157475	0.78114|0.78114	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259|ENST00000522821	T;T;T|.	0.70986|.	-0.53;-0.42;-0.42|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|.	0.84151|.	0.5409|.	M|M	0.86805|0.86805	2.84|2.84	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0|.	D;D;D;D|.	0.87578|.	0.997;0.998;0.982;0.997|.	D|.	0.85491|.	0.1185|.	10|.	0.87932|.	D|.	0|.	-20.5874|-20.5874	19.7376|19.7376	0.96214|0.96214	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	235;257;257;310|.	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0|.	.;.;.;TTC13_HUMAN|.	F|S	310;257;257|170	ENSP00000355621:L310F;ENSP00000355622:L257F;ENSP00000416631:L257F|.	ENSP00000355621:L310F|.	L|X	-|-	3|2	2|2	TTC13|TTC13	229136201|229136201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.321000|2.321000	0.43805|0.43805	2.657000|2.657000	0.90304|0.90304	0.563000|0.563000	0.77884|0.77884	TTG|TGA		0.328	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		21	88	0	0	0	0	21	88				
HEATR1	55127	broad.mit.edu	37	1	236724551	236724551	+	Silent	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:236724551A>G	ENST00000366582.3	-	33	4734	c.4620T>C	c.(4618-4620)ccT>ccC	p.P1540P	HEATR1_ENST00000366581.2_Silent_p.P1459P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1540					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTAAAATCTCAGGACCACCAC	0.333																																						uc001hyd.1		NA																	0				ovary(2)|skin(1)	3						c.(4618-4620)CCT>CCC		protein BAP28							112.0	110.0	110.0					1																	236724551		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236724551A>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4620T>C	1.37:g.236724551A>G						HEATR1_uc009xgh.1_Silent_p.P702P	p.P1540P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		33	4745	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1540					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.4620T>C	CCDS31066.1																																																																																				0.333	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	148	0	0	0	0	3	148				
RYR2	6262	broad.mit.edu	37	1	237951342	237951342	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:237951342G>T	ENST00000366574.2	+	92	13700	c.13383G>T	c.(13381-13383)aaG>aaT	p.K4461N	RYR2_ENST00000542537.1_Missense_Mutation_p.K4445N|RYR2_ENST00000360064.6_Missense_Mutation_p.K4467N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4461					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAAACAAAAGTTGAGGCAGC	0.398																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13381-13383)AAG>AAT		cardiac muscle ryanodine receptor							88.0	97.0	94.0					1																	237951342		2091	4244	6335	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237951342G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13383G>T	1.37:g.237951342G>T	ENSP00000355533:p.Lys4461Asn						p.K4461N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		92	13503	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4461					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13383G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213465	0.39102	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.94280	-3.39;-3.39;-3.39	4.65	0.297	0.15762	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000009	D	0.92004	0.7467	L	0.42245	1.32	0.18873	N	0.999986	D	0.63046	0.992	P	0.58172	0.834	D	0.85212	0.1021	10	0.26408	T	0.33	.	9.6867	0.40103	0.4078:0.0:0.5922:0.0	.	4461	Q92736	RYR2_HUMAN	N	4461;4467;4445	ENSP00000355533:K4461N;ENSP00000353174:K4467N;ENSP00000443798:K4445N	ENSP00000353174:K4467N	K	+	3	2	RYR2	236017965	0.189000	0.23263	0.003000	0.11579	0.694000	0.40290	0.579000	0.23788	0.098000	0.17522	0.585000	0.79938	AAG		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	18	1	0	9.31e-06	1.28e-05	13	18				
FMN2	56776	broad.mit.edu	37	1	240256603	240256603	+	Silent	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240256603C>A	ENST00000319653.9	+	1	1424	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	398					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCTGCCCGGCAGCCCCG	0.706																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1192-1194)CCC>CCA		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256603C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1194C>A	1.37:g.240256603C>A						FMN2_uc010pye.1_Silent_p.P398P	p.P398P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1419	+	Ovarian(103;0.127)	all_cancers(173;0.013)	398					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.1194C>A	CCDS31069.2																																																																																				0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		36	76	1	0	3.04e-20	4.79e-20	36	76				
FMN2	56776	broad.mit.edu	37	1	240371048	240371048	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240371048C>A	ENST00000319653.9	+	5	3166	c.2936C>A	c.(2935-2937)cCc>cAc	p.P979H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	979	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCACCCCCTCTACCC	0.716																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2935-2937)CCC>CAC		formin 2							19.0	21.0	21.0					1																	240371048		2200	4286	6486	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371048C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2936C>A	1.37:g.240371048C>A	ENSP00000318884:p.Pro979His					FMN2_uc010pye.1_Missense_Mutation_p.P983H	p.P979H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3161	+	Ovarian(103;0.127)	all_cancers(173;0.013)	979			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2936C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631791	0.29068	.	.	ENSG00000155816	ENST00000319653	T	0.66099	-0.19	3.5	3.5	0.40072	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.81578	0.4852	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.86412	0.1749	8	.	.	.	.	15.7216	0.77713	0.0:1.0:0.0:0.0	.	979	Q9NZ56	FMN2_HUMAN	H	979	ENSP00000318884:P979H	.	P	+	2	0	FMN2	238437671	0.973000	0.33851	0.007000	0.13788	0.008000	0.06430	5.825000	0.69286	1.996000	0.58369	0.472000	0.43445	CCC		0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		36	52	1	0	2.64e-12	3.92e-12	36	52				
FMN2	56776	broad.mit.edu	37	1	240635698	240635698	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240635698G>A	ENST00000319653.9	+	17	5317	c.5087G>A	c.(5086-5088)aGa>aAa	p.R1696K	AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000543681.1_Missense_Mutation_p.R16K|FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000545751.1_Missense_Mutation_p.R292K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1696	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGTGTGTAGACAGAAGAAA	0.328																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(5086-5088)AGA>AAA		formin 2							80.0	86.0	84.0					1																	240635698		2203	4298	6501	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240635698G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5087G>A	1.37:g.240635698G>A	ENSP00000318884:p.Arg1696Lys					FMN2_uc010pye.1_Missense_Mutation_p.R1700K|FMN2_uc010pyg.1_Missense_Mutation_p.R292K|FMN2_uc001hyr.2_RNA	p.R1696K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		17	5312	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1696			Potential.|FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.5087G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	7.153	0.584133	0.13749	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993;ENST00000543681	T;T	0.40756	1.02;1.02	5.83	3.96	0.45880	Actin-binding FH2 (1);	0.251393	0.33023	N	0.005368	T	0.26268	0.0641	N	0.22421	0.69	0.36693	D	0.879662	B;B;B	0.33857	0.0;0.429;0.013	B;B;B	0.27608	0.0;0.081;0.027	T	0.19778	-1.0295	10	0.41790	T	0.15	.	10.8921	0.47002	0.1457:0.0:0.8543:0.0	.	292;325;1696	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	K	1696;292;323;172;16	ENSP00000318884:R1696K;ENSP00000437918:R292K	ENSP00000318884:R1696K	R	+	2	0	FMN2	238702321	1.000000	0.71417	0.982000	0.44146	0.853000	0.48598	3.608000	0.54109	0.808000	0.34231	-0.140000	0.14226	AGA		0.328	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		23	76	0	0	0	0	23	76				
RGS7	6000	broad.mit.edu	37	1	241519074	241519074	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:241519074C>A	ENST00000407727.1	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	RGS7_ENST00000401882.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000366564.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000366563.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000348120.2_Start_Codon_SNP_p.M1I|RGS7_ENST00000366562.4_Start_Codon_SNP_p.M1I|RGS7_ENST00000366565.1_Start_Codon_SNP_p.M1I			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	1					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCCCCTGGGCCATGTCACCCA	0.498																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(1-3)ATG>ATT		regulator of G-protein signaling 7							92.0	89.0	90.0					1																	241519074		2203	4300	6503	SO:0001582	initiator_codon_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241519074C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.3G>T	1.37:g.241519074C>A	ENSP00000384428:p.Met1Ile					RGS7_uc001hyu.2_Missense_Mutation_p.M1I|RGS7_uc009xgn.1_Missense_Mutation_p.M1I|RGS7_uc001hyw.2_Missense_Mutation_p.M1I	p.M1I	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		2	333	-		all_cancers(173;0.0131)	1					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.3G>T		.	.	.	.	.	.	.	.	.	.	C	13.38	2.219568	0.39201	.	.	ENSG00000182901	ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T	0.30714	1.63;1.63;1.63;1.52;1.63;1.62;1.52	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	.	.	.	0.80722	D	1	B;B;B;B	0.14805	0.011;0.011;0.011;0.0	B;B;B;B	0.34652	0.187;0.187;0.187;0.005	T	0.22591	-1.0212	9	0.56958	D	0.05	-0.9301	15.2533	0.73564	0.0:1.0:0.0:0.0	.	1;1;1;1	P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.	I	1	ENSP00000355523:M1I;ENSP00000355522:M1I;ENSP00000355521:M1I;ENSP00000341242:M1I;ENSP00000355520:M1I;ENSP00000384428:M1I;ENSP00000385508:M1I	ENSP00000341242:M1I	M	-	3	0	RGS7	239585697	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.141000	0.64814	2.448000	0.82819	0.591000	0.81541	ATG		0.498	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	Missense_Mutation	42	91	1	0	4.67e-22	7.47e-22	42	91				
OR2W5	441932	broad.mit.edu	37	1	247655015	247655015	+	RNA	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:247655015G>T	ENST00000522351.1	+	0	646							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATGCTGGTAGAAGCGATTCA	0.587																																						uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(586-588)GAA>TAA		olfactory receptor, family 2, subfamily W,							136.0	139.0	138.0					1																	247655015		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655015G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655015G>T							p.E196*	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	586	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	196					B9EH85	Nonsense_Mutation	SNP	ENST00000522351.1	37	c.586G>T																																																																																					0.587	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		81	146	1	0	4.42e-40	7.43e-40	81	146				
OR2C3	81472	broad.mit.edu	37	1	247695641	247695641	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:247695641G>T	ENST00000366487.3	-	2	534	c.173C>A	c.(172-174)aCa>aAa	p.T58K	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTACATAGGTGTGTGGAGGTG	0.488																																						uc009xgy.2		NA																	0				ovary(1)|skin(1)	2						c.(172-174)ACA>AAA		olfactory receptor, family 2, subfamily C,							155.0	137.0	143.0					1																	247695641		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695641G>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.173C>A	1.37:g.247695641G>T	ENSP00000355443:p.Thr58Lys					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.T58K	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	535	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	58			Cytoplasmic (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.173C>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358601	0.41801	.	.	ENSG00000196242	ENST00000366487	T	0.00478	7.13	4.04	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	U	0.001536	T	0.00637	0.0021	M	0.86740	2.835	0.23336	N	0.997886	P	0.39480	0.675	B	0.37047	0.24	T	0.35525	-0.9785	10	0.72032	D	0.01	.	9.6909	0.40127	0.1035:0.0:0.8965:0.0	.	58	Q8N628	OR2C3_HUMAN	K	58	ENSP00000355443:T58K	ENSP00000355443:T58K	T	-	2	0	OR2C3	245762264	0.090000	0.21635	0.743000	0.31040	0.358000	0.29455	0.277000	0.18734	1.051000	0.40369	0.650000	0.86243	ACA		0.488	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		53	92	1	0	1.11e-26	1.81e-26	53	92				
TRIM58	25893	broad.mit.edu	37	1	248039588	248039588	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248039588G>A	ENST00000366481.3	+	6	1306	c.1258G>A	c.(1258-1260)Ggt>Agt	p.G420S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	420	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTATGAAGCCGGTGAAATTTC	0.448																																						uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1258-1260)GGT>AGT		tripartite motif-containing 58							183.0	187.0	186.0					1																	248039588		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039588G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1258G>A	1.37:g.248039588G>A	ENSP00000355437:p.Gly420Ser					OR2W3_uc001idp.1_Intron	p.G420S	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1306	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	420			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1258G>A	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631611	0.46944	.	.	ENSG00000162722	ENST00000366481	T	0.71341	-0.56	4.05	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000018	D	0.84893	0.5573	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85440	0.1154	10	0.51188	T	0.08	.	7.8767	0.29597	0.1079:0.0:0.8921:0.0	.	420	Q8NG06	TRI58_HUMAN	S	420	ENSP00000355437:G420S	ENSP00000355437:G420S	G	+	1	0	TRIM58	246106211	1.000000	0.71417	0.055000	0.19348	0.260000	0.26232	5.775000	0.68915	2.559000	0.86315	0.650000	0.86243	GGT		0.448	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		124	220	0	0	0	0	124	220				
OR2AK2	391191	broad.mit.edu	37	1	248129228	248129228	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248129228C>A	ENST00000366480.3	+	1	694	c.595C>A	c.(595-597)Cta>Ata	p.L199I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGTTCCAGCTCTACTATCATT	0.428																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	0				ovary(1)|breast(1)	2						c.(595-597)CTA>ATA		olfactory receptor, family 2, subfamily AK,							94.0	82.0	86.0					1																	248129228		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129228C>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.595C>A	1.37:g.248129228C>A	ENSP00000355436:p.Leu199Ile					OR2L13_uc001ids.2_Intron	p.L199I	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	595	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		199			Extracellular (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.595C>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	14.85	2.657772	0.47467	.	.	ENSG00000187080	ENST00000366480	T	0.00069	8.77	3.03	-0.546	0.11840	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	L	0.52759	1.655	0.09310	N	1	D	0.55385	0.971	P	0.60286	0.872	T	0.49214	-0.8963	9	0.51188	T	0.08	.	5.623	0.17467	0.4889:0.4092:0.0:0.1019	.	199	Q8NG84	O2AK2_HUMAN	I	199	ENSP00000355436:L199I	ENSP00000355436:L199I	L	+	1	2	OR2AK2	246195851	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-5.128000	0.00148	-0.240000	0.09696	0.455000	0.32223	CTA		0.428	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		12	114	1	0	3.07e-06	4.26e-06	12	114				
OR2T4	127074	broad.mit.edu	37	1	248525904	248525904	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248525904C>T	ENST00000366475.1	+	1	1022	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	341						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTGGAACCTGCCTTTCAA	0.393																																						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(1021-1023)CCT>CTT		olfactory receptor, family 2, subfamily T,							95.0	100.0	98.0					1																	248525904		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525904C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.1022C>T	1.37:g.248525904C>T	ENSP00000355431:p.Pro341Leu						p.P341L	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	1022	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		341			Cytoplasmic (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.1022C>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	4.443	0.082100	0.08533	.	.	ENSG00000196944	ENST00000366475	T	0.01613	4.73	2.49	-1.12	0.09808	.	0.707588	0.12247	N	0.486030	T	0.00637	0.0021	N	0.01464	-0.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47142	-0.9140	10	0.08837	T	0.75	.	4.1587	0.10273	0.0:0.4589:0.1775:0.3636	.	341	Q8NH00	OR2T4_HUMAN	L	341	ENSP00000355431:P341L	ENSP00000355431:P341L	P	+	2	0	OR2T4	246592527	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.877000	0.04197	-0.005000	0.14395	0.585000	0.79938	CCT		0.393	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		5	238	0	0	0	0	5	238				
OR2T27	403239	broad.mit.edu	37	1	248813773	248813773	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248813773C>G	ENST00000344889.3	-	1	412	c.413G>C	c.(412-414)cGc>cCc	p.R138P		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R138L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGATCTTGCGGCTCATGAG	0.557																																						uc010pzo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(412-414)CGC>CCC		olfactory receptor, family 2, subfamily T,							76.0	52.0	60.0					1																	248813773		2200	4252	6452	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813773C>G		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.413G>C	1.37:g.248813773C>G	ENSP00000342008:p.Arg138Pro						p.R138P	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	413	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	138			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.413G>C	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	3.464	-0.109375	0.06924	.	.	ENSG00000187701	ENST00000344889	T	0.01379	4.96	3.3	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.184574	0.26510	N	0.023961	T	0.00580	0.0019	N	0.02266	-0.62	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.46205	-0.9208	10	0.16420	T	0.52	.	0.9665	0.01406	0.2019:0.4036:0.1974:0.1971	.	138	Q8NH04	O2T27_HUMAN	P	138	ENSP00000342008:R138P	ENSP00000342008:R138P	R	-	2	0	OR2T27	246880396	0.000000	0.05858	0.044000	0.18714	0.024000	0.10985	-2.135000	0.01306	0.202000	0.20498	0.194000	0.17425	CGC		0.557	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		50	128	0	0	0	0	50	128				
GATA3	2625	broad.mit.edu	37	10	8100437	8100437	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:8100437G>A	ENST00000346208.3	+	3	866	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.S137S			P23771	GATA3_HUMAN	GATA binding protein 3	137	Poly-Ser.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		0				breast(17)|ovary(3)|central_nervous_system(2)	22						c.(409-411)TCG>TCA		GATA binding protein 3 isoform 2							42.0	54.0	50.0					10																	8100437		2203	4300	6503	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100437G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.411G>A	10.37:g.8100437G>A						GATA3_uc001ijz.2_Silent_p.S137S	p.S137S	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	968	+			137			Poly-Ser.		Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.411G>A	CCDS7083.1																																																																																				0.716	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		51	120	0	0	0	0	51	120				
ACBD7	414149	broad.mit.edu	37	10	15120601	15120601	+	Splice_Site	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:15120601C>A	ENST00000356189.5	-	4	242	c.195G>T	c.(193-195)ggG>ggT	p.G65G	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	65	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			endometrium(1)|lung(4)|prostate(1)	6						CCGTCGACAACCCTAGAAAGA	0.363																																						uc001inv.2		NA																	0					0						c.(193-195)GGG>GGT		acyl-Coenzyme A binding domain containing 7							138.0	136.0	137.0					10																	15120601		2203	4300	6503	SO:0001630	splice_region_variant	414149						fatty-acyl-CoA binding	g.chr10:15120601C>A	AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 7"""				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.194-1G>T	10.37:g.15120601C>A						ACBD7_uc010qby.1_Intron	p.G65G	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN			4	243	-			65			ACB.		A6NCI2|B3KTG8	Silent	SNP	ENST00000356189.5	37	c.195G>T	CCDS31153.1																																																																																				0.363	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2		Silent	56	115	1	0	4.48e-38	7.5e-38	56	115				
NEBL	10529	broad.mit.edu	37	10	21139430	21139430	+	Splice_Site	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:21139430A>G	ENST00000377122.4	-	11	1406	c.1010T>C	c.(1009-1011)gTg>gCg	p.V337A	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	337					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTATATTTCACCTTCATTGG	0.318																																						uc001iqi.2		NA																	0				ovary(2)	2						c.(1009-1011)GTG>GCG		nebulette sarcomeric isoform							97.0	95.0	96.0					10																	21139430		2203	4299	6502	SO:0001630	splice_region_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21139430A>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1009-1T>C	10.37:g.21139430A>G						NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	p.V337A	NM_006393	NP_006384	O76041	NEBL_HUMAN			11	1407	-			337			Nebulin 9.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1010T>C	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440285	0.83993	.	.	ENSG00000078114	ENST00000377122	T	0.54279	0.58	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	M	0.74389	2.26	0.80722	D	1	D	0.56521	0.976	P	0.62089	0.898	T	0.71457	-0.4587	10	0.48119	T	0.1	.	15.1294	0.72511	1.0:0.0:0.0:0.0	.	337	O76041	NEBL_HUMAN	A	337	ENSP00000366326:V337A	ENSP00000366326:V337A	V	-	2	0	NEBL	21179436	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.346000	0.79347	2.281000	0.76405	0.533000	0.62120	GTG		0.318	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	Missense_Mutation	3	117	0	0	0	0	3	117				
ARHGAP21	57584	broad.mit.edu	37	10	24884718	24884718	+	Nonsense_Mutation	SNP	G	G	A	rs149363020		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:24884718G>A	ENST00000396432.2	-	19	4126	c.3640C>T	c.(3640-3642)Cga>Tga	p.R1214*	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1001*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1213	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCAAATCTCGCCATTTCTAG	0.358																																						uc001isb.2		NA																	0				ovary(7)|pancreas(1)	8						c.(3640-3642)CGA>TGA		Rho GTPase activating protein 21		G	stop/ARG	0,4406		0,0,2203	66.0	66.0	66.0		3640	4.3	1.0	10	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ARHGAP21	NM_020824.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1214/1959	24884718	1,13005	2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24884718G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3640C>T	10.37:g.24884718G>A	ENSP00000379709:p.Arg1214*					ARHGAP21_uc010qdb.1_RNA	p.R1214*	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			19	4127	-			1213			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.3640C>T	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.125106|5.125106	0.94429|0.94429	0.0|0.0	1.16E-4|1.16E-4	ENSG00000107863|ENSG00000107863	ENST00000418033|ENST00000396432;ENST00000447364;ENST00000320481;ENST00000418325	.|.	.|.	.|.	5.27|5.27	4.35|4.35	0.52113|0.52113	.|.	.|0.066296	.|0.64402	.|D	.|0.000011	T|.	0.36690|.	0.0976|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34700|.	-0.9818|.	3|.	.|0.02654	.|T	.|1	.|.	15.3883|15.3883	0.74723|0.74723	0.0:0.0:0.8596:0.1404|0.0:0.0:0.8596:0.1404	.|.	.|.	.|.	.|.	V|X	27|1214;663;1001;55	.|.	.|ENSP00000365604:R1001X	A|R	-|-	2|1	0|2	ARHGAP21|ARHGAP21	24924724|24924724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.481000|3.481000	0.53179|0.53179	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.358	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		27	55	0	0	0	0	27	55				
YME1L1	10730	broad.mit.edu	37	10	27434503	27434503	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:27434503C>T	ENST00000326799.3	-	4	504	c.356G>A	c.(355-357)aGg>aAg	p.R119K	YME1L1_ENST00000477432.1_3'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.R62K|YME1L1_ENST00000376016.3_Missense_Mutation_p.R62K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	119					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCAAGGTCCCTTAAGTTAAG	0.333																																						uc001iti.2		NA																	0				ovary(1)	1						c.(355-357)AGG>AAG		YME1-like 1 isoform 1							89.0	94.0	92.0					10																	27434503		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27434503C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.356G>A	10.37:g.27434503C>T	ENSP00000318480:p.Arg119Lys					YME1L1_uc001itj.2_Missense_Mutation_p.R62K|YME1L1_uc010qdl.1_Missense_Mutation_p.R62K|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_3'UTR	p.R119K	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			4	538	-			119					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.356G>A	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985731	0.35036	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.92595	-2.97;-3.01;-3.07	5.69	2.5	0.30297	Peptidase M41, FtsH (1);	0.130824	0.64402	N	0.000003	T	0.80924	0.4717	N	0.08118	0	0.24888	N	0.992186	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.67233	-0.5722	10	0.24483	T	0.36	-9.5536	10.7248	0.46061	0.0:0.7272:0.0:0.2728	.	62;62;119	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	K	62;119;119;62;62;54	ENSP00000365184:R62K;ENSP00000318480:R119K;ENSP00000365139:R62K	ENSP00000318480:R119K	R	-	2	0	YME1L1	27474509	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	0.856000	0.27818	0.788000	0.33755	-0.143000	0.13931	AGG		0.333	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		21	77	0	0	0	0	21	77				
ANKRD30A	91074	broad.mit.edu	37	10	37438733	37438733	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:37438733C>A	ENST00000602533.1	+	11	1532	c.1433C>A	c.(1432-1434)cCa>cAa	p.P478Q	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P478Q|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P478Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	534					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACTCTGTTCCAAATAAAGCC	0.294																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(1432-1434)CCA>CAA		ankyrin repeat domain 30A							103.0	95.0	97.0					10																	37438733		1808	4067	5875	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37438733C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1433C>A	10.37:g.37438733C>A	ENSP00000473551:p.Pro478Gln						p.P478Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			11	1532	+			534					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1433C>A		.	.	.	.	.	.	.	.	.	.	.	10.95	1.494605	0.26774	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06371	3.31;3.31	1.28	1.28	0.21552	.	.	.	.	.	T	0.11024	0.0269	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	D	0.76071	0.987	T	0.33471	-0.9867	9	0.27082	T	0.32	.	6.0084	0.19559	0.0:1.0:0.0:0.0	.	534	Q9BXX3	AN30A_HUMAN	Q	478	ENSP00000354432:P478Q;ENSP00000363792:P478Q	ENSP00000354432:P478Q	P	+	2	0	ANKRD30A	37478739	0.013000	0.17824	0.003000	0.11579	0.010000	0.07245	1.130000	0.31393	1.008000	0.39264	0.409000	0.27619	CCA		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		48	107	1	0	3.77e-23	6.06e-23	48	107				
FRMPD2	143162	broad.mit.edu	37	10	49414961	49414961	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:49414961G>T	ENST00000374201.3	-	14	1929	c.1627C>A	c.(1627-1629)Cca>Aca	p.P543T	FRMPD2_ENST00000407470.4_Missense_Mutation_p.P511T|FRMPD2_ENST00000305531.3_Missense_Mutation_p.P518T	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	543	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCGTATTCTGGGAGCTGCTGA	0.498																																						uc001jgi.2		NA																	0				large_intestine(1)	1						c.(1627-1629)CCA>ACA		FERM and PDZ domain containing 2 isoform 3							67.0	59.0	62.0					10																	49414961		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49414961G>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1627C>A	10.37:g.49414961G>T	ENSP00000363317:p.Pro543Thr					FRMPD2_uc001jgh.2_Missense_Mutation_p.P511T|FRMPD2_uc001jgj.2_Missense_Mutation_p.P521T	p.P543T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	14	1734	-			543			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1627C>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	7.942	0.743026	0.15642	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.83163	-1.69;-1.69;-1.69	5.68	4.78	0.61160	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.88040	0.6330	L	0.60845	1.875	0.47276	D	0.999379	D;P;D	0.76494	0.999;0.78;0.999	D;P;D	0.68039	0.955;0.604;0.955	D	0.87219	0.2252	9	0.39692	T	0.17	.	13.7721	0.63032	0.0735:0.0:0.9265:0.0	.	518;543;511	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	T	543;518;511	ENSP00000363317:P543T;ENSP00000307079:P518T;ENSP00000384339:P511T	ENSP00000307079:P518T	P	-	1	0	FRMPD2	49084967	1.000000	0.71417	0.367000	0.25926	0.001000	0.01503	6.845000	0.75394	1.427000	0.47276	-0.140000	0.14226	CCA		0.498	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		21	48	1	0	5.35e-06	7.41e-06	21	48				
PCDH15	65217	broad.mit.edu	37	10	55782945	55782945	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:55782945C>T	ENST00000320301.6	-	19	2627	c.2233G>A	c.(2233-2235)Gat>Aat	p.D745N	PCDH15_ENST00000414778.1_Missense_Mutation_p.D750N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D745N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D723N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D356N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D752N|PCDH15_ENST00000373965.2_Missense_Mutation_p.D752N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D674N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D708N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D745N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D745N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.D745N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	745	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCCAGCATCAGGGTCTGTT	0.338										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2233-2235)GAT>AAT		protocadherin 15 isoform CD1-4 precursor							55.0	59.0	58.0					10																	55782945		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782945C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2233G>A	10.37:g.55782945C>T	ENSP00000322604:p.Asp745Asn	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.D750N|PCDH15_uc010qhr.1_Missense_Mutation_p.D745N|PCDH15_uc010qhs.1_Missense_Mutation_p.D757N|PCDH15_uc010qht.1_Missense_Mutation_p.D752N|PCDH15_uc010qhu.1_Missense_Mutation_p.D745N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D745N|PCDH15_uc010qhw.1_Missense_Mutation_p.D708N|PCDH15_uc010qhx.1_Missense_Mutation_p.D674N|PCDH15_uc010qhy.1_Missense_Mutation_p.D750N|PCDH15_uc010qhz.1_Missense_Mutation_p.D745N|PCDH15_uc010qia.1_Missense_Mutation_p.D723N|PCDH15_uc010qib.1_Missense_Mutation_p.D723N|PCDH15_uc001jjw.2_Missense_Mutation_p.D745N	p.D745N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			19	2628	-		Melanoma(3;0.117)|Lung SC(717;0.238)	745			Extracellular (Potential).|Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2233G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	34	5.291674	0.95546	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.91761	0.7394	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.995;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.944;1.0	D	0.94099	0.7360	9	0.87932	D	0	.	19.4974	0.95079	0.0:1.0:0.0:0.0	.	723;745;745;750;674;708;745;745;752;752;745;750;745;745	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	752;750;745;745;356;752;708;745;723;745;745;750;674;745	ENSP00000363076:D752N;ENSP00000410304:D750N;ENSP00000378826:D745N;ENSP00000386693:D356N;ENSP00000378832:D752N;ENSP00000378820:D708N;ENSP00000354950:D745N;ENSP00000378821:D723N;ENSP00000322604:D745N;ENSP00000378818:D745N;ENSP00000412628:D674N;ENSP00000363066:D745N	ENSP00000322604:D745N	D	-	1	0	PCDH15	55452951	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.776000	0.85560	2.775000	0.95449	0.650000	0.86243	GAT		0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		9	59	0	0	0	0	9	59				
RHOBTB1	9886	broad.mit.edu	37	10	62648067	62648067	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:62648067C>A	ENST00000337910.5	-	6	1696	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.M453I	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	453					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTTCCTTGTTCATGATGTTTT	0.483																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1357-1359)ATG>ATT		Rho-related BTB domain containing 1							132.0	118.0	122.0					10																	62648067		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648067C>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1359G>T	10.37:g.62648067C>A	ENSP00000338671:p.Met453Ile					RHOBTB1_uc001jlh.2_Missense_Mutation_p.M453I|RHOBTB1_uc001jlj.2_Missense_Mutation_p.M453I|RHOBTB1_uc001jlk.2_Missense_Mutation_p.M453I|RHOBTB1_uc009xpe.1_Missense_Mutation_p.M391I|RHOBTB1_uc001jll.2_Missense_Mutation_p.M203I	p.M453I	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1797	-	Prostate(12;0.0112)		453						Missense_Mutation	SNP	ENST00000337910.5	37	c.1359G>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646739	0.29246	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.19938	2.11;2.11	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.057243	0.64402	D	0.000001	T	0.24774	0.0601	L	0.57536	1.79	0.41851	D	0.990178	B	0.25272	0.122	B	0.32980	0.156	T	0.04065	-1.0980	10	0.41790	T	0.15	.	10.2941	0.43613	0.0:0.8547:0.0:0.1453	.	453	O94844	RHBT1_HUMAN	I	453	ENSP00000350595:M453I;ENSP00000338671:M453I	ENSP00000338671:M453I	M	-	3	0	RHOBTB1	62318073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	2.709000	0.92574	0.655000	0.94253	ATG		0.483	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			28	91	1	0	1.51e-07	2.12e-07	28	91				
LRRTM3	347731	broad.mit.edu	37	10	68687192	68687192	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:68687192C>T	ENST00000361320.4	+	2	1096	c.518C>T	c.(517-519)cCt>cTt	p.P173L	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	173					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGAACCATCCCTGTGCGAATA	0.488																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(517-519)CCT>CTT		leucine rich repeat transmembrane neuronal 3							82.0	88.0	85.0					10																	68687192		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687192C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.518C>T	10.37:g.68687192C>T	ENSP00000355187:p.Pro173Leu					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.P173L	p.P173L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1068	+			173			Extracellular (Potential).|LRR 5.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.518C>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221609	0.58560	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.59906	0.23	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000006	T	0.71417	0.3337	M	0.82323	2.585	0.80722	D	1	B;B	0.31040	0.193;0.305	B;B	0.42827	0.267;0.399	T	0.73665	-0.3911	10	0.62326	D	0.03	.	17.9918	0.89171	0.0:1.0:0.0:0.0	.	173;173	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	L	173	ENSP00000355187:P173L	ENSP00000355187:P173L	P	+	2	0	LRRTM3	68357198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.538000	0.85594	0.650000	0.86243	CCT		0.488	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		17	195	0	0	0	0	17	195				
TET1	80312	broad.mit.edu	37	10	70406353	70406353	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:70406353G>A	ENST00000373644.4	+	4	4076	c.3867G>A	c.(3865-3867)acG>acA	p.T1289T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1289					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACAGTTAACGGTGAATGCCA	0.458																																						uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(3865-3867)ACG>ACA		CXXC finger 6							118.0	102.0	108.0					10																	70406353		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70406353G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3867G>A	10.37:g.70406353G>A							p.T1289T	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	4372	+			1289					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.3867G>A	CCDS7281.1																																																																																				0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		8	166	0	0	0	0	8	166				
OIT3	170392	broad.mit.edu	37	10	74673213	74673213	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:74673213G>T	ENST00000334011.5	+	6	1156	c.938G>T	c.(937-939)gGt>gTt	p.G313V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	313	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AAGACATGTGGTACAGTGGTC	0.557																																					Colon(7;19 345 13446 17537)	uc001jte.1		NA																	0				ovary(2)	2						c.(937-939)GGT>GTT		oncoprotein-induced transcript 3 precursor							114.0	93.0	100.0					10																	74673213		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74673213G>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.938G>T	10.37:g.74673213G>T	ENSP00000333900:p.Gly313Val					OIT3_uc009xqs.1_RNA	p.G313V	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			6	1156	+	Prostate(51;0.0198)		313			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.938G>T	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974224	0.92919	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.91843	-2.92	5.95	5.95	0.96441	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000015	D	0.96442	0.8839	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96066	0.9042	10	0.66056	D	0.02	-36.7454	20.3931	0.98965	0.0:0.0:1.0:0.0	.	313	Q8WWZ8	OIT3_HUMAN	V	313	ENSP00000333900:G313V	ENSP00000333900:G313V	G	+	2	0	OIT3	74343219	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.490000	0.97952	2.824000	0.97209	0.655000	0.94253	GGT		0.557	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		39	114	1	0	1.57e-19	2.46e-19	39	114				
ANXA7	310	broad.mit.edu	37	10	75139821	75139821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:75139821G>A	ENST00000372921.5	-	10	1113	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Nonsense_Mutation_p.Q223*	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	375					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GCTCTCAGCTGAGGAAAGCTT	0.428																																						uc001jtz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1123-1125)CAG>TAG		annexin VII isoform 2							224.0	229.0	228.0					10																	75139821		2203	4300	6503	SO:0001587	stop_gained	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75139821G>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.1057C>T	10.37:g.75139821G>A	ENSP00000362012:p.Gln353*					ANXA7_uc001jua.2_Nonsense_Mutation_p.Q353*|ANXA7_uc001jub.2_Nonsense_Mutation_p.Q313*|ANXA7_uc010qki.1_Nonsense_Mutation_p.Q263*|ANXA7_uc009xre.2_Nonsense_Mutation_p.Q282*|ANXA7_uc009xrf.1_Nonsense_Mutation_p.Q295*	p.Q375*	NM_004034	NP_004025	P20073	ANXA7_HUMAN			11	1196	-	Prostate(51;0.0119)		375			Annexin 3.		Q5F2H3|Q5T0M6|Q5T0M7	Nonsense_Mutation	SNP	ENST00000372921.5	37	c.1123C>T	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058889	0.93846	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	.	.	.	6.17	4.31	0.51392	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.5127	0.50502	0.149:0.0:0.851:0.0	.	.	.	.	X	353;375;223	.	ENSP00000362010:Q375X	Q	-	1	0	ANXA7	74809827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.830000	0.69324	1.616000	0.50265	0.655000	0.94253	CAG		0.428	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		101	344	0	0	0	0	101	344				
USP54	159195	broad.mit.edu	37	10	75277422	75277422	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:75277422G>C	ENST00000339859.4	-	19	2862	c.2762C>G	c.(2761-2763)tCt>tGt	p.S921C	RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.S771C|USP54_ENST00000394811.2_Missense_Mutation_p.S9C|USP54_ENST00000408019.1_Missense_Mutation_p.S921C|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.S103C|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	921					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGGAAGAAAGAACTGGCCCC	0.512																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	0				breast(3)|lung(2)|kidney(1)	6						c.(2761-2763)TCT>TGT		ubiquitin specific peptidase 54							56.0	56.0	56.0					10																	75277422		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75277422G>C	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2762C>G	10.37:g.75277422G>C	ENSP00000345216:p.Ser921Cys					USP54_uc010qkk.1_Missense_Mutation_p.S103C|USP54_uc001juk.2_Missense_Mutation_p.S9C|USP54_uc001jul.2_Missense_Mutation_p.S9C|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	p.S921C	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			18	2779	-	Prostate(51;0.0112)		921					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.2762C>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374389	0.82573	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.39056	1.58;1.58;1.57;1.1;1.46	5.78	5.78	0.91487	.	0.650998	0.13846	U	0.358709	T	0.63450	0.2512	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.68943	0.961;0.754	T	0.61787	-0.6991	10	0.72032	D	0.01	-2.361	20.0118	0.97458	0.0:0.0:1.0:0.0	.	103;921	E7EW90;Q70EL1	.;UBP54_HUMAN	C	921;921;771;9;103	ENSP00000345216:S921C;ENSP00000386080:S921C;ENSP00000408714:S771C;ENSP00000378290:S9C;ENSP00000407368:S103C	ENSP00000345216:S921C	S	-	2	0	USP54	74947428	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.891000	0.87319	2.742000	0.94016	0.650000	0.86243	TCT		0.512	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		18	87	0	0	0	0	18	87				
PTEN	5728	broad.mit.edu	37	10	89624270	89624270	+	Missense_Mutation	SNP	G	G	C	rs398123324		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:89624270G>C	ENST00000371953.3	+	1	1401	c.44G>C	c.(43-45)aGa>aCa	p.R15T	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> S (in glioma). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAAAGGAGATATCAAGAG	0.478		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		58	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(4)|Deletion - Frameshift(3)|Deletion - In frame(1)	p.?(13)|p.0?(12)|p.R15I(4)|p.R15S(3)|p.R15K(1)|p.R14fs*26(1)|p.R15fs*28(1)|p.R15fs*9(1)|p.N12fs*6(1)|p.R14_D22del(1)	prostate(14)|central_nervous_system(12)|skin(7)|lung(6)|endometrium(4)|ovary(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|urinary_tract(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(43-45)AGA>ACA		phosphatase and tensin homolog							186.0	177.0	180.0					10																	89624270		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624270G>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.44G>C	10.37:g.89624270G>C	ENSP00000361021:p.Arg15Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				KILLIN_uc009xti.2_5'Flank	p.R15T	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1075	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	15		R -> S (in glioma).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.44G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831215	0.91036	.	.	ENSG00000171862	ENST00000371953	D	0.95980	-3.87	5.05	5.05	0.67936	Phosphatase tensin type (1);	0.105614	0.64402	D	0.000007	D	0.96839	0.8968	H	0.95611	3.695	0.80722	D	1	P	0.36065	0.535	B	0.37346	0.247	D	0.97558	1.0096	9	.	.	.	-0.232	17.1609	0.86803	0.0:0.0:1.0:0.0	.	15	P60484	PTEN_HUMAN	T	15	ENSP00000361021:R15T	.	R	+	2	0	PTEN	89614250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.335000	0.79485	0.561000	0.74099	AGA		0.478	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		15	129	0	0	0	0	15	129				
SLC35G1	159371	broad.mit.edu	37	10	95658490	95658490	+	Missense_Mutation	SNP	C	C	A	rs78174634		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:95658490C>A	ENST00000427197.1	+	2	402	c.341C>A	c.(340-342)cCt>cAt	p.P114H	SLC35G1_ENST00000371408.3_Missense_Mutation_p.P113H	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	114	EamA 1.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GTTGTTATCCCTTGCTTAATA	0.338																																						uc001kjg.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(340-342)CCT>CAT		transmembrane protein 20 isoform 1							146.0	143.0	144.0					10																	95658490		2203	4300	6503	SO:0001583	missense	159371					integral to membrane		g.chr10:95658490C>A	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.341C>A	10.37:g.95658490C>A	ENSP00000400932:p.Pro114His					TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.P113H|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.P97H|TMEM20_uc001kjj.2_Intron	p.P114H	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN		STAD - Stomach adenocarcinoma(243;0.00345)	2	402	+		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)	114			Helical; (Potential).|DUF6 1.		Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	37	c.341C>A	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239643	0.79800	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.52983	0.64;0.64	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.97110	1.0;0.982;0.974	T	0.67979	-0.5530	10	0.15499	T	0.54	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	97;114;113	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	H	113;114	ENSP00000360462:P113H;ENSP00000400932:P114H	ENSP00000360462:P113H	P	+	2	0	SLC35G1	95648480	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.008000	0.76341	2.861000	0.98227	0.655000	0.94253	CCT		0.338	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		4	47	1	0	0.000602214	0.000802385	4	47				
ANO9	338440	broad.mit.edu	37	11	433389	433389	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:433389G>C	ENST00000332826.6	-	4	359	c.275C>G	c.(274-276)aCt>aGt	p.T92S		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	92					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CAGGAGGAAAGTGCGGTACAG	0.647																																						uc001lpi.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(274-276)ACT>AGT		tumor protein p53 inducible protein 5							115.0	117.0	116.0					11																	433389		2203	4299	6502	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:433389G>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.275C>G	11.37:g.433389G>C	ENSP00000332788:p.Thr92Ser					ANO9_uc010qvv.1_5'UTR	p.T92S	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			4	360	-			92			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.275C>G	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	g	1.563	-0.536244	0.04082	.	.	ENSG00000185101	ENST00000332826	T	0.65732	-0.17	4.08	0.833	0.18875	.	2.941340	0.01443	U	0.015192	T	0.43299	0.1241	L	0.27053	0.805	0.09310	N	1	P	0.40144	0.704	B	0.31442	0.13	T	0.32929	-0.9888	10	0.35671	T	0.21	.	2.7024	0.05153	0.1106:0.1715:0.5225:0.1953	.	92	A1A5B4	ANO9_HUMAN	S	92	ENSP00000332788:T92S	ENSP00000332788:T92S	T	-	2	0	ANO9	423389	0.000000	0.05858	0.003000	0.11579	0.064000	0.16182	-0.708000	0.05035	0.069000	0.16605	0.466000	0.42574	ACT		0.647	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		45	40	0	0	0	0	45	40				
EPS8L2	64787	broad.mit.edu	37	11	722549	722549	+	Splice_Site	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:722549G>A	ENST00000533256.1	+	14	1583	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	EPS8L2_ENST00000318562.8_Splice_Site_p.R403H|EPS8L2_ENST00000530636.1_Splice_Site_p.R403H|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Splice_Site_p.R419H			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	403					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCGGCCCCGGTAGGGCAGG	0.687																																						uc001lqt.2		NA																	0				pancreas(1)	1						c.(1207-1209)CGT>CAT		epidermal growth factor receptor pathway							29.0	29.0	29.0					11																	722549		2203	4300	6503	SO:0001630	splice_region_variant	64787					cytoplasm		g.chr11:722549G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1208+1G>A	11.37:g.722549G>A						EPS8L2_uc001lqu.2_Missense_Mutation_p.R403H|EPS8L2_uc010qwk.1_Missense_Mutation_p.R419H|EPS8L2_uc001lqv.2_Missense_Mutation_p.R358H|EPS8L2_uc001lqw.2_Missense_Mutation_p.R15H|EPS8L2_uc001lqx.2_Missense_Mutation_p.R15H|EPS8L2_uc001lqy.2_5'Flank	p.R403H	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1455	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	403					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1208G>A	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.040791	0.55003	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	2.98	2.05	0.26809	.	0.000000	0.64402	U	0.000007	T	0.60457	0.2270	M	0.79926	2.475	0.48341	D	0.999639	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60372	-0.7276	10	0.72032	D	0.01	-26.7902	7.2809	0.26310	0.1336:0.0:0.8664:0.0	.	419;403	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	H	403;403;403;419	ENSP00000320828:R403H;ENSP00000435585:R403H;ENSP00000436035:R403H;ENSP00000436230:R419H	ENSP00000320828:R403H	R	+	2	0	EPS8L2	712549	1.000000	0.71417	0.932000	0.37286	0.364000	0.29643	6.416000	0.73332	0.600000	0.29862	0.486000	0.48141	CGT		0.687	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772	Missense_Mutation	24	22	0	0	0	0	24	22				
OR51S1	119692	broad.mit.edu	37	11	4870420	4870420	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:4870420G>T	ENST00000322101.2	-	1	94	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGCTATCTGAGTTGGTAAT	0.483																																						uc010qyo.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(19-21)CAG>AAG		olfactory receptor, family 51, subfamily S,							114.0	122.0	119.0					11																	4870420		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870420G>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.19C>A	11.37:g.4870420G>T	ENSP00000322754:p.Gln7Lys						p.Q7K	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	19	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	7			Extracellular (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.19C>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	0.533	-0.857196	0.02630	.	.	ENSG00000176922	ENST00000322101	T	0.00001	9.91	5.02	1.81	0.25067	.	1.028630	0.07776	N	0.952544	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03863	-1.0997	10	0.87932	D	0	-6.0E-4	7.2584	0.26189	0.0799:0.0:0.4915:0.4286	.	7	Q8NGJ8	O51S1_HUMAN	K	7	ENSP00000322754:Q7K	ENSP00000322754:Q7K	Q	-	1	0	OR51S1	4826996	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.613000	0.24299	0.763000	0.33175	0.563000	0.77884	CAG		0.483	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		50	120	1	0	9.22e-22	1.47e-21	50	120				
OR52A4	390053	broad.mit.edu	37	11	5142452	5142452	+	RNA	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:5142452C>A	ENST00000498233.1	-	0	946							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCATGGCTAGCAGGACTCCTG	0.438																																						uc001lzz.1		NA																	0				ovary(2)	2						c.(355-357)CTG>CTT		olfactory receptor, family 52, subfamily A,							61.0	55.0	57.0					11																	5142452		2201	4298	6499			390053							g.chr11:5142452C>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142452C>A						OR52A4_uc001maa.2_RNA	p.L119L	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	357	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.357G>T																																																																																					0.438	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		13	73	1	0	1.05e-09	1.53e-09	13	73				
DENND5A	23258	broad.mit.edu	37	11	9161320	9161320	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:9161320G>C	ENST00000328194.3	-	23	4082	c.3762C>G	c.(3760-3762)atC>atG	p.I1254M	DENND5A_ENST00000527700.1_Missense_Mutation_p.I597M|SCUBE2_ENST00000534295.1_5'Flank|DENND5A_ENST00000530044.1_3'UTR	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1254	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TATGGTCTTTGATCAGTGCCA	0.527																																						uc001mhl.2		NA																	0				liver(1)	1						c.(3760-3762)ATC>ATG		RAB6 interacting protein 1							165.0	114.0	131.0					11																	9161320		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9161320G>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3762C>G	11.37:g.9161320G>C	ENSP00000328524:p.Ile1254Met					DENND5A_uc001mhk.2_Missense_Mutation_p.I597M|DENND5A_uc010rbw.1_3'UTR	p.I1254M	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			23	4017	-			1254			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.3762C>G	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.66|10.66	1.411332|1.411332	0.25465|0.25465	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000527700|ENST00000528725;ENST00000533737;ENST00000525784	T;T|.	0.10668|.	2.85;2.85|.	5.71|5.71	4.71|4.71	0.59529|0.59529	RUN (3);|.	0.283070|.	0.41500|.	D|.	0.000878|.	T|.	0.34919|.	0.0914|.	N|N	0.14661|0.14661	0.345|0.345	0.51012|0.51012	D|D	0.999904|0.999904	B|.	0.13145|.	0.007|.	B|.	0.17433|.	0.018|.	T|.	0.13629|.	-1.0502|.	10|.	0.54805|.	T|.	0.06|.	.|.	5.1972|5.1972	0.15245|0.15245	0.139:0.0:0.6479:0.2132|0.139:0.0:0.6479:0.2132	.|.	1254|.	Q6IQ26|.	DEN5A_HUMAN|.	M|X	1254;597|153;162;233	ENSP00000328524:I1254M;ENSP00000432549:I597M|.	ENSP00000328524:I1254M|.	I|S	-|-	3|2	3|0	DENND5A|DENND5A	9117896|9117896	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.474000|0.474000	0.22148|0.22148	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.527	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		8	68	0	0	0	0	8	68				
KCNJ11	3767	broad.mit.edu	37	11	17409546	17409546	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:17409546C>T	ENST00000339994.4	-	1	660	c.93G>A	c.(91-93)cgG>cgA	p.R31R	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Intron	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	31					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	AGCGGGCCCTCCGCTGGCGGG	0.652																																						uc001mna.2		NA																	0				ovary(1)	1						c.(91-93)CGG>CGA		potassium inwardly-rectifying channel J11							74.0	76.0	75.0					11																	17409546		2200	4293	6493	SO:0001819	synonymous_variant	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409546C>T	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.93G>A	11.37:g.17409546C>T						KCNJ11_uc001mnb.3_Intron	p.R31R	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	661	-			31					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	c.93G>A	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	C	0.318	-0.963485	0.02249	.	.	ENSG00000187486	ENST00000528992	.	.	.	4.57	2.65	0.31530	.	.	.	.	.	T	0.61825	0.2378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56938	-0.7896	4	.	.	.	.	11.7704	0.51956	0.1241:0.8022:0.0:0.0737	.	.	.	.	E	37	.	.	G	-	2	0	KCNJ11	17366122	0.001000	0.12720	0.997000	0.53966	0.337000	0.28794	-0.631000	0.05496	0.370000	0.24538	-2.048000	0.00412	GGA		0.652	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		14	157	0	0	0	0	14	157				
ABCC8	6833	broad.mit.edu	37	11	17427052	17427052	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:17427052T>C	ENST00000389817.3	-	27	3456	c.3388A>G	c.(3388-3390)Acc>Gcc	p.T1130A	ABCC8_ENST00000302539.4_Missense_Mutation_p.T1131A			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1130	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		T -> P (in HHF1). {ECO:0000269|PubMed:16429405}.		carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGGTCGATGGTGTTACAGTCA	0.542																																						uc001mnc.2		NA																	0				ovary(1)	1	GRCh37	CM060773	ABCC8	M		c.(3388-3390)ACC>GCC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						176.0	174.0	175.0					11																	17427052		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17427052T>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3388A>G	11.37:g.17427052T>C	ENSP00000374467:p.Thr1130Ala						p.T1130A	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	27	3514	-			1130		T -> P (in HHF1).	Cytoplasmic (By similarity).|ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3388A>G	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603289	0.66445	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.89343	-2.5;-2.5	5.75	5.75	0.90469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	L	0.52905	1.665	0.80722	D	1	B	0.18013	0.025	B	0.20955	0.032	T	0.82163	-0.0593	10	0.23302	T	0.38	.	16.0664	0.80878	0.0:0.0:0.0:1.0	.	1130	Q09428	ABCC8_HUMAN	A	1130;1131	ENSP00000374467:T1130A;ENSP00000303960:T1131A	ENSP00000303960:T1131A	T	-	1	0	ABCC8	17383628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.201000	0.70794	0.533000	0.62120	ACC		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		54	191	0	0	0	0	54	191				
MRGPRX2	117194	broad.mit.edu	37	11	19077336	19077336	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:19077336A>T	ENST00000329773.2	-	2	701	c.614T>A	c.(613-615)cTg>cAg	p.L205Q		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	205					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCTGACCAGCAGGGCCAGACT	0.547																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NA																	0				ovary(1)	1						c.(613-615)CTG>CAG		MAS-related GPR, member X2							41.0	44.0	43.0					11																	19077336		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077336A>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.614T>A	11.37:g.19077336A>T	ENSP00000333800:p.Leu205Gln						p.L205Q	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	702	-			205			Helical; Name=5; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.614T>A	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.227665	0.58668	.	.	ENSG00000183695	ENST00000329773	T	0.73897	-0.79	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000216	D	0.88474	0.6446	H	0.95504	3.68	0.23751	N	0.996946	D	0.89917	1.0	D	0.87578	0.998	T	0.81767	-0.0782	10	0.87932	D	0	.	8.0247	0.30430	0.8188:0.0:0.0:0.1811	.	205	Q96LB1	MRGX2_HUMAN	Q	205	ENSP00000333800:L205Q	ENSP00000333800:L205Q	L	-	2	0	MRGPRX2	19033912	0.820000	0.29190	0.295000	0.24960	0.157000	0.22087	2.628000	0.46477	2.155000	0.67459	0.533000	0.62120	CTG		0.547	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		24	48	0	0	0	0	24	48				
NELL1	4745	broad.mit.edu	37	11	21592462	21592462	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:21592462T>A	ENST00000357134.5	+	18	2285	c.2133T>A	c.(2131-2133)caT>caA	p.H711Q	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000298925.5_Missense_Mutation_p.H739Q|NELL1_ENST00000532434.1_Missense_Mutation_p.H664Q|NELL1_ENST00000325319.5_Missense_Mutation_p.H654Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	711	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTGGACCCATAGCTGTCAGC	0.448																																						uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2131-2133)CAT>CAA		nel-like 1 isoform 1 precursor							192.0	183.0	186.0					11																	21592462		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592462T>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2133T>A	11.37:g.21592462T>A	ENSP00000349654:p.His711Gln					NELL1_uc001mqf.2_Missense_Mutation_p.H664Q|NELL1_uc009yid.2_Missense_Mutation_p.H739Q|NELL1_uc010rdo.1_Missense_Mutation_p.H654Q|NELL1_uc010rdp.1_Missense_Mutation_p.H424Q|NELL1_uc001mqh.2_Missense_Mutation_p.H256Q	p.H711Q	NM_006157	NP_006148	Q92832	NELL1_HUMAN			18	2286	+			711			VWFC 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2133T>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.352450	0.41700	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	6.16	-2.25	0.06888	von Willebrand factor, type C (3);	0.131097	0.52532	N	0.000064	T	0.31949	0.0813	N	0.01109	-1.01	0.33641	D	0.60728	B;B;B;B;B	0.17667	0.001;0.001;0.023;0.001;0.001	B;B;B;B;B	0.21917	0.002;0.005;0.037;0.003;0.003	T	0.28870	-1.0030	10	0.12430	T	0.62	-14.6134	7.7622	0.28959	0.1051:0.5043:0.0:0.3906	.	654;739;256;664;711	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	Q	739;711;654;664	ENSP00000298925:H739Q;ENSP00000349654:H711Q;ENSP00000317837:H654Q;ENSP00000437170:H664Q	ENSP00000298925:H739Q	H	+	3	2	NELL1	21549038	0.156000	0.22821	0.934000	0.37439	0.960000	0.62799	-0.419000	0.07071	-0.214000	0.10078	-0.263000	0.10527	CAT		0.448	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		62	168	0	0	0	0	62	168				
SVIP	258010	broad.mit.edu	37	11	22848863	22848863	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:22848863C>A	ENST00000354193.4	-	3	225	c.109G>T	c.(109-111)Gca>Tca	p.A37S	RP11-17A1.3_ENST00000499625.1_RNA|SVIP_ENST00000533774.1_5'UTR|RP11-17A1.3_ENST00000528701.1_RNA|RP11-17A1.3_ENST00000525963.1_RNA	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	37					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						CCCCGAGATGCAGCCTTGAAG	0.353																																						uc001mqp.3		NA																	0					0						c.(109-111)GCA>TCA		small VCP/p97-interacting protein							84.0	86.0	85.0					11																	22848863		1788	4061	5849	SO:0001583	missense	258010					Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane		g.chr11:22848863C>A	AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.109G>T	11.37:g.22848863C>A	ENSP00000346130:p.Ala37Ser					uc001mqq.1_5'Flank	p.A37S	NM_148893	NP_683691	Q8NHG7	SVIP_HUMAN			3	197	-			37						Missense_Mutation	SNP	ENST00000354193.4	37	c.109G>T	CCDS41627.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828728	0.50845	.	.	ENSG00000198168	ENST00000354193	.	.	.	4.85	3.8	0.43715	.	0.137948	0.33382	N	0.004980	T	0.26048	0.0635	.	.	.	0.28628	N	0.907805	B	0.27625	0.183	B	0.28011	0.085	T	0.09751	-1.0660	8	0.22109	T	0.4	-12.1323	9.1225	0.36795	0.2732:0.7268:0.0:0.0	.	37	Q8NHG7	SVIP_HUMAN	S	37	.	ENSP00000346130:A37S	A	-	1	0	SVIP	22805439	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.442000	0.44873	2.399000	0.81585	0.655000	0.94253	GCA		0.353	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387725.2	NM_148893		37	137	1	0	1.7e-12	2.53e-12	37	137				
ANO3	63982	broad.mit.edu	37	11	26681844	26681844	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:26681844C>T	ENST00000256737.3	+	27	3651	c.2799C>T	c.(2797-2799)taC>taT	p.Y933Y	ANO3_ENST00000531568.1_Silent_p.Y787Y|ANO3_ENST00000525139.1_Silent_p.Y917Y|ANO3_ENST00000537978.1_Silent_p.Y917Y	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	933					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCATCGCATACCTGATTCCAG	0.373																																						uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2797-2799)TAC>TAT		transmembrane protein 16C							145.0	130.0	135.0					11																	26681844		2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26681844C>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2799C>T	11.37:g.26681844C>T						ANO3_uc010rdr.1_Silent_p.Y917Y|ANO3_uc010rds.1_Silent_p.Y772Y|ANO3_uc010rdt.1_Silent_p.Y787Y	p.Y933Y	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			27	2944	+			933			Helical; (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.2799C>T	CCDS31447.1																																																																																				0.373	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		27	90	0	0	0	0	27	90				
SLC5A12	159963	broad.mit.edu	37	11	26742938	26742938	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:26742938G>A	ENST00000396005.3	-	1	633	c.324C>T	c.(322-324)atC>atT	p.I108I	SLC5A12_ENST00000280467.6_Silent_p.I108I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	108					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAGTGCTGGTGATACCAGATC	0.408																																						uc001mra.2		NA																	0				ovary(1)|skin(1)	2						c.(322-324)ATC>ATT		solute carrier family 5 (sodium/glucose							69.0	70.0	70.0					11																	26742938		2203	4299	6502	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26742938G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.324C>T	11.37:g.26742938G>A						SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Silent_p.I108I	p.I108I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			1	637	-			108			Cytoplasmic (Potential).		Q86UC7	Silent	SNP	ENST00000396005.3	37	c.324C>T	CCDS7860.2																																																																																				0.408	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		20	40	0	0	0	0	20	40				
CD44	960	broad.mit.edu	37	11	35222735	35222735	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:35222735G>A	ENST00000428726.2	+	8	1152	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Silent_p.R343R|CD44_ENST00000415148.2_Silent_p.R300R|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Silent_p.R343R|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Silent_p.R343R	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	343	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CAACCACAAGGATGACTGGTA	0.463																																						uc001mvu.2		NA																	0				pancreas(1)	1						c.(1027-1029)AGG>AGA		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						106.0	103.0	104.0					11																	35222735		2202	4298	6500	SO:0001819	synonymous_variant	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35222735G>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1029G>A	11.37:g.35222735G>A						CD44_uc001mvv.2_Silent_p.R300R|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	p.R343R	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		8	1463	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	343			Extracellular (Potential).|Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	c.1029G>A	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	G	0.142	-1.100674	0.01843	.	.	ENSG00000026508	ENST00000528455;ENST00000524922;ENST00000526553	.	.	.	5.59	2.27	0.28462	.	.	.	.	.	T	0.49490	0.1560	.	.	.	0.34517	D	0.70776	.	.	.	.	.	.	T	0.56727	-0.7931	4	.	.	.	-12.3044	8.1415	0.31086	0.2909:0.0:0.7091:0.0	.	.	.	.	N	195;88;36	.	.	D	+	1	0	CD44	35179311	0.996000	0.38824	0.989000	0.46669	0.023000	0.10783	0.522000	0.22909	0.735000	0.32537	0.655000	0.94253	GAT		0.463	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		41	146	0	0	0	0	41	146				
OR5L2	26338	broad.mit.edu	37	11	55595390	55595390	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55595390G>T	ENST00000378397.1	+	1	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACTCTGCAGAGAGCAGGCACA	0.493										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(694-696)GAG>GAT		olfactory receptor, family 5, subfamily L,							179.0	151.0	161.0					11																	55595390		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595390G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.696G>T	11.37:g.55595390G>T	ENSP00000367650:p.Glu232Asp	HNSCC(27;0.073)					p.E232D	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	696	+		all_epithelial(135;0.208)	232			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.696G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	5.639	0.302598	0.10678	.	.	ENSG00000205030	ENST00000378397	T	0.00193	8.58	5.24	-0.198	0.13224	GPCR, rhodopsin-like superfamily (1);	0.117848	0.37955	N	0.001874	T	0.00144	0.0004	L	0.46157	1.445	0.09310	N	1	B	0.22541	0.071	B	0.29785	0.107	T	0.44329	-0.9335	10	0.56958	D	0.05	-23.5774	2.4119	0.04427	0.2821:0.1201:0.475:0.1228	.	232	Q8NGL0	OR5L2_HUMAN	D	232	ENSP00000367650:E232D	ENSP00000367650:E232D	E	+	3	2	OR5L2	55351966	0.011000	0.17503	0.334000	0.25495	0.004000	0.04260	-0.187000	0.09656	0.023000	0.15187	-0.209000	0.12711	GAG		0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		61	130	1	0	3.22e-24	5.2e-24	61	130				
OR8H2	390151	broad.mit.edu	37	11	55872670	55872670	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55872670G>T	ENST00000313503.1	+	1	152	c.152G>T	c.(151-153)cGc>cTc	p.R51L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.428										HNSCC(53;0.14)																												uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(151-153)CGC>CTC		olfactory receptor, family 8, subfamily H,							285.0	255.0	265.0					11																	55872670		2201	4294	6495	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872670G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.152G>T	11.37:g.55872670G>T	ENSP00000323982:p.Arg51Leu	HNSCC(53;0.14)					p.R51L	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	152	+	Esophageal squamous(21;0.00693)		51			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.152G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.017668	0.00418	.	.	ENSG00000181767	ENST00000313503	T	0.01051	5.4	3.58	-7.16	0.01516	GPCR, rhodopsin-like superfamily (1);	0.745590	0.12500	N	0.463420	T	0.00496	0.0016	N	0.11201	0.11	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.45848	-0.9233	10	0.10636	T	0.68	.	0.6661	0.00851	0.3664:0.2105:0.2242:0.199	.	51	Q8N162	OR8H2_HUMAN	L	51	ENSP00000323982:R51L	ENSP00000323982:R51L	R	+	2	0	OR8H2	55629246	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.052000	0.00627	-2.361000	0.00609	-1.624000	0.00789	CGC		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		80	277	1	0	5.43e-32	8.95e-32	80	277				
OR8H2	390151	broad.mit.edu	37	11	55872803	55872803	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55872803G>T	ENST00000313503.1	+	1	285	c.285G>T	c.(283-285)acG>acT	p.T95T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTTCCTTTACGGGCTGCTTTG	0.443										HNSCC(53;0.14)																												uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(283-285)ACG>ACT		olfactory receptor, family 8, subfamily H,							320.0	325.0	323.0					11																	55872803		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872803G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.285G>T	11.37:g.55872803G>T		HNSCC(53;0.14)					p.T95T	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	285	+	Esophageal squamous(21;0.00693)		95			Extracellular (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.285G>T	CCDS31518.1																																																																																				0.443	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		177	524	1	0	4.48e-97	7.66e-97	177	524				
OR8K5	219453	broad.mit.edu	37	11	55927286	55927286	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55927286C>A	ENST00000313447.1	-	1	507	c.508G>T	c.(508-510)Ggc>Tgc	p.G170C		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACATTAGAGCCACAGAAGGTC	0.388																																						uc010rja.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(508-510)GGC>TGC		olfactory receptor, family 8, subfamily K,							88.0	88.0	88.0					11																	55927286		2201	4295	6496	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927286C>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.508G>T	11.37:g.55927286C>A	ENSP00000323853:p.Gly170Cys						p.G170C	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	508	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	170			Extracellular (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.508G>T	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318231	0.40996	.	.	ENSG00000181752	ENST00000313447	T	0.39592	1.07	4.18	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.218004	0.32416	N	0.006136	T	0.70193	0.3196	H	0.97158	3.95	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.63314	-0.6665	10	0.72032	D	0.01	.	5.3382	0.15969	0.0:0.6397:0.1686:0.1918	.	170	Q8NH50	OR8K5_HUMAN	C	170	ENSP00000323853:G170C	ENSP00000323853:G170C	G	-	1	0	OR8K5	55683862	0.000000	0.05858	0.903000	0.35520	0.977000	0.68977	-0.557000	0.05985	1.094000	0.41399	0.567000	0.79289	GGC		0.388	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		50	86	1	0	8.07e-11	1.19e-10	50	86				
OR5M9	390162	broad.mit.edu	37	11	56230512	56230512	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:56230512C>A	ENST00000279791.1	-	1	365	c.366G>T	c.(364-366)atG>atT	p.M122I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	122						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(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGCAGCCGGCCATGTACCTGT	0.493																																						uc010rjj.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(364-366)ATG>ATT		olfactory receptor, family 5, subfamily M,							108.0	104.0	106.0					11																	56230512		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230512C>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.366G>T	11.37:g.56230512C>A	ENSP00000279791:p.Met122Ile						p.M122I	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	366	-	Esophageal squamous(21;0.00448)		122			Cytoplasmic (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.366G>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456797	0.43634	.	.	ENSG00000150269	ENST00000279791	T	0.00776	5.71	4.64	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.108809	0.41097	D	0.000955	T	0.00815	0.0027	N	0.25992	0.78	0.26655	N	0.972015	B	0.06786	0.001	B	0.10450	0.005	T	0.46400	-0.9194	10	0.59425	D	0.04	-22.2427	11.4887	0.50369	0.1803:0.8197:0.0:0.0	.	122	Q8NGP3	OR5M9_HUMAN	I	122	ENSP00000279791:M122I	ENSP00000279791:M122I	M	-	3	0	OR5M9	55987088	0.779000	0.28652	1.000000	0.80357	0.987000	0.75469	-0.076000	0.11412	2.283000	0.76528	0.549000	0.68633	ATG		0.493	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		53	125	1	0	1e-16	1.54e-16	53	125				
MS4A14	84689	broad.mit.edu	37	11	60183849	60183849	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:60183849G>C	ENST00000300187.6	+	5	1685	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	MS4A14_ENST00000531787.1_Missense_Mutation_p.E358Q|MS4A14_ENST00000531783.1_Missense_Mutation_p.E503Q|MS4A14_ENST00000395005.2_Missense_Mutation_p.E453Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	470	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGAGACCAAAGAATGGAAATC	0.388																																						uc001npj.2		NA																	0				breast(1)	1						c.(1408-1410)GAA>CAA		membrane-spanning 4-domains, subfamily A, member							67.0	69.0	68.0					11																	60183849		2203	4299	6502	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183849G>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1408G>C	11.37:g.60183849G>C	ENSP00000300187:p.Glu470Gln					MS4A14_uc001npi.2_Missense_Mutation_p.E358Q|MS4A14_uc001npn.2_Missense_Mutation_p.E208Q|MS4A14_uc001npk.2_Missense_Mutation_p.E453Q|MS4A14_uc001npl.2_Missense_Mutation_p.E208Q|MS4A14_uc001npm.2_Missense_Mutation_p.E208Q	p.E470Q	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1973	+			470			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1408G>C	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	4.052	0.007300	0.07866	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.56941	0.43;1.54;0.45;1.97	4.13	2.08	0.27032	.	4.603730	0.00166	N	0.000009	T	0.43831	0.1265	L	0.46157	1.445	0.44627	D	0.997603	P;B	0.35348	0.496;0.363	B;B	0.28385	0.089;0.041	T	0.26360	-1.0105	10	0.29301	T	0.29	-13.4352	5.6502	0.17612	0.1242:0.1945:0.6813:0.0	.	453;470	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Q	358;470;453;503	ENSP00000437222:E358Q;ENSP00000300187:E470Q;ENSP00000378453:E453Q;ENSP00000433761:E503Q	ENSP00000300187:E470Q	E	+	1	0	MS4A14	59940425	0.950000	0.32346	0.482000	0.27366	0.029000	0.11900	1.244000	0.32778	0.386000	0.24997	-0.355000	0.07637	GAA		0.388	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			9	114	0	0	0	0	9	114				
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288	byFrequency	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6340-6342)GCC>ACC		AHNAK nucleoprotein isoform 1							189.0	200.0	196.0					11																	62295549		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295549C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6340G>A	11.37:g.62295549C>T	ENSP00000367263:p.Ala2114Thr					AHNAK_uc001ntk.1_Intron	p.A2114T	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6640	-		Melanoma(852;0.155)	2114					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6340G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.044	-1.273123	0.01421	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00912	5.55	3.66	-5.3	0.02738	.	.	.	.	.	T	0.01287	0.0042	L	0.48986	1.54	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.22312	-1.0220	9	0.46703	T	0.11	.	14.1474	0.65360	0.0:0.6689:0.0:0.3311	rs1298288	2114	Q09666	AHNK_HUMAN	T	203;2114	ENSP00000367263:A2114T	ENSP00000244934:A203T	A	-	1	0	AHNAK	62052125	0.000000	0.05858	0.032000	0.17829	0.480000	0.33159	-3.861000	0.00348	-1.808000	0.01234	-1.902000	0.00527	GCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	665	0	0	0	0	7	665				
FIBP	9158	broad.mit.edu	37	11	65651446	65651446	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:65651446C>T	ENST00000338369.2	-	10	1206	c.1094G>A	c.(1093-1095)tGa>tAa	p.*365*	FIBP_ENST00000426652.2_5'Flank|FIBP_ENST00000533045.1_3'UTR|FIBP_ENST00000357519.4_Silent_p.*358*	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	0					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GGAGGCACCTCAGTCATGATA	0.602											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogd.2		NA																	0				ovary(1)	1						c.(1093-1095)TGA>TAA		FGF intracellular binding protein isoform a							66.0	60.0	62.0					11																	65651446		2200	4296	6496	SO:0001819	synonymous_variant	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65651446C>T	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.1094G>A	11.37:g.65651446C>T			OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_uc009yqu.2_3'UTR|FIBP_uc001oge.2_Silent_p.*358*	p.*365*	NM_198897	NP_942600	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	10	1215	-			365					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Silent	SNP	ENST00000338369.2	37	c.1094G>A	CCDS8119.1																																																																																				0.602	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		10	77	0	0	0	0	10	77				
NDUFV1	4723	broad.mit.edu	37	11	67378581	67378581	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:67378581C>T	ENST00000322776.6	+	6	969	c.816C>T	c.(814-816)ggC>ggT	p.G272G	DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000532303.1_Silent_p.G171G|NDUFV1_ENST00000415352.2_Silent_p.G265G|NDUFV1_ENST00000529927.1_Silent_p.G263G|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	272					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GCAACTCAGGCACCAAACTAT	0.542																																						uc001omj.2		NA																	0				skin(1)	1						c.(814-816)GGC>GGT		NADH dehydrogenase ubiquinone flavoprotein 1	NADH(DB00157)						131.0	108.0	116.0					11																	67378581		2200	4294	6494	SO:0001819	synonymous_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67378581C>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.816C>T	11.37:g.67378581C>T						NDUFV1_uc010rpv.1_Silent_p.G171G|NDUFV1_uc001oml.2_Silent_p.G265G|NDUFV1_uc001omk.3_Silent_p.G263G|NDUFV1_uc009yrz.1_Silent_p.G171G|NDUFV1_uc010rpw.1_5'UTR	p.G272G	NM_007103	NP_009034	P49821	NDUV1_HUMAN			6	969	+			272					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Silent	SNP	ENST00000322776.6	37	c.816C>T	CCDS8173.1																																																																																				0.542	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		42	115	0	0	0	0	42	115				
PRKRIR	5612	broad.mit.edu	37	11	76063227	76063227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:76063227C>A	ENST00000260045.3	-	5	1072	c.967G>T	c.(967-969)Gag>Tag	p.E323*	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	323					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CGACAATACTCCATATTTAAT	0.383																																						uc001oxh.1		NA																	0				ovary(2)|pancreas(1)	3						c.(967-969)GAG>TAG		protein-kinase, interferon-inducible double							35.0	37.0	36.0					11																	76063227		2147	4194	6341	SO:0001587	stop_gained	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063227C>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.967G>T	11.37:g.76063227C>A	ENSP00000260045:p.Glu323*					PRKRIR_uc010rrz.1_Nonsense_Mutation_p.E148*	p.E323*	NM_004705	NP_004696	O43422	P52K_HUMAN			5	967	-			323					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Nonsense_Mutation	SNP	ENST00000260045.3	37	c.967G>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	58	32.850644	0.99980	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	18.3441	0.90315	0.0:1.0:0.0:0.0	.	.	.	.	X	148;323	.	ENSP00000260045:E323X	E	-	1	0	PRKRIR	75740875	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.323000	0.59221	2.416000	0.81992	0.644000	0.83932	GAG		0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		41	86	1	0	9.55e-19	1.48e-18	41	86				
PCF11	51585	broad.mit.edu	37	11	82879779	82879779	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:82879779G>C	ENST00000298281.4	+	8	2854	c.2402G>C	c.(2401-2403)gGa>gCa	p.G801A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	801	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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 factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATGGGGGGAGGAGGCCCTTTG	0.522																																						uc001ozx.3		NA																	0				ovary(1)	1						c.(2401-2403)GGA>GCA		pre-mRNA cleavage complex II protein Pcf11							57.0	58.0	58.0					11																	82879779		1915	4113	6028	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82879779G>C	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2402G>C	11.37:g.82879779G>C	ENSP00000298281:p.Gly801Ala					PCF11_uc010rsu.1_Missense_Mutation_p.G932A	p.G801A	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	2747	+			801			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2402G>C	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912234	0.17907	.	.	ENSG00000165494	ENST00000298281;ENST00000530660	T;T	0.46451	1.98;0.87	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000015	T	0.25344	0.0616	N	0.21097	0.63	0.25064	N	0.99105	B;B	0.15141	0.012;0.001	B;B	0.12837	0.008;0.005	T	0.11227	-1.0596	9	.	.	.	.	5.9434	0.19205	0.0724:0.1452:0.6486:0.1338	.	932;801	E9PQ01;O94913	.;PCF11_HUMAN	A	801;932	ENSP00000298281:G801A;ENSP00000434540:G932A	.	G	+	2	0	PCF11	82557427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.315000	0.43752	2.937000	0.99478	0.650000	0.86243	GGA		0.522	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		7	83	0	0	0	0	7	83				
DYNC2H1	79659	broad.mit.edu	37	11	103027117	103027117	+	Splice_Site	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:103027117G>C	ENST00000375735.2	+	26	3889	c.3745G>C	c.(3745-3747)Gat>Cat	p.D1249H	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1249	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTAAATAGGATTTAAATAG	0.284																																						uc001pho.2		NA																	0					0						c.(3745-3747)GAT>CAT		dynein, cytoplasmic 2, heavy chain 1							29.0	29.0	29.0					11																	103027117		1811	4071	5882	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027117G>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3745-1G>C	11.37:g.103027117G>C						DYNC2H1_uc001phn.1_Missense_Mutation_p.D1249H|DYNC2H1_uc009yxe.1_Intron	p.D1249H	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	3889	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1249			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.3745G>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690596	0.48097	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.62364	0.03;0.03	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.197764	0.33895	N	0.004459	T	0.61702	0.2368	L	0.61218	1.895	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.008	T	0.57400	-0.7818	9	.	.	.	.	18.8855	0.92376	0.0:0.0:1.0:0.0	.	1249;1249	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	H	1249	ENSP00000364887:D1249H;ENSP00000381167:D1249H	.	D	+	1	0	DYNC2H1	102532327	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.376000	0.79658	2.472000	0.83506	0.563000	0.77884	GAT		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Missense_Mutation	26	45	0	0	0	0	26	45				
CASP1	834	broad.mit.edu	37	11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	rs2509649		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCCCAGCGTCCCTGCCAGGTA	0.468																																					NSCLC(41;1246 1743 4934)	uc010rve.1		NA																	2	Substitution - Missense(2)		NS(1)|endometrium(1)	ovary(2)	2						c.(253-255)GGG>GAG		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						185.0	166.0	172.0					11																	104904955		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104904955C>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.254G>A	11.37:g.104904955C>T	ENSP00000433138:p.Gly85Glu					CASP1_uc001pig.2_Intron|CASP1_uc001pik.2_Missense_Mutation_p.G69E|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Missense_Mutation_p.G85E|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.G85E|CASP1_uc009yxi.2_Missense_Mutation_p.G85E|CASP1_uc010rvj.1_Missense_Mutation_p.G85E|CASP1_uc009yxj.2_5'UTR|CASP1_uc010rvk.1_Missense_Mutation_p.G46E|CASP1_uc010rvl.1_Missense_Mutation_p.G85E	p.G85E	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	2	271	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	85			CARD.		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.254G>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	0.205	-1.041669	0.02013	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.83	-8.48	0.00935	DEATH-like (2);Caspase Recruitment (3);	0.759254	0.12546	N	0.459494	T	0.05823	0.0152	N	0.05608	-0.01	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.0;0.001;0.001	T	0.38908	-0.9639	10	0.02654	T	1	.	8.2173	0.31519	0.0:0.3778:0.1052:0.517	rs2509649	85;46;85;85;69	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	E	69;85;85;85;85;46	ENSP00000432340:G69E;ENSP00000433138:G85E;ENSP00000410076:G85E;ENSP00000376844:G85E;ENSP00000434779:G85E;ENSP00000434259:G46E	ENSP00000376844:G85E	G	-	2	0	CASP1	104410165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.454000	0.06770	-1.188000	0.02705	-1.472000	0.01007	GGG		0.468	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		6	270	0	0	0	0	6	270				
NPAT	4863	broad.mit.edu	37	11	108043717	108043717	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:108043717G>A	ENST00000278612.8	-	13	2099	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	665					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTCTTTTACAGAAGATGAAGG	0.393																																						uc001pjz.3		NA																	0				ovary(2)	2						c.(1993-1995)TCT>TTT		nuclear protein,  ataxia-telangiectasia locus							42.0	40.0	40.0					11																	108043717		1821	4079	5900	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108043717G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1994C>T	11.37:g.108043717G>A	ENSP00000278612:p.Ser665Phe					NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.S460F	p.S665F	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2096	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	665					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1994C>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170802	0.57584	.	.	ENSG00000149308	ENST00000278612	T	0.09911	2.93	5.83	4.89	0.63831	.	0.398340	0.28077	N	0.016687	T	0.20577	0.0495	L	0.29908	0.895	0.42909	D	0.994253	D;D	0.61080	0.989;0.963	D;P	0.63192	0.912;0.824	T	0.01626	-1.1309	10	0.72032	D	0.01	-1.9468	15.0732	0.72056	0.0:0.1413:0.8587:0.0	.	665;665	B9EG70;Q14207	.;NPAT_HUMAN	F	665	ENSP00000278612:S665F	ENSP00000278612:S665F	S	-	2	0	NPAT	107548927	1.000000	0.71417	0.512000	0.27736	0.956000	0.61745	2.714000	0.47202	1.404000	0.46819	0.655000	0.94253	TCT		0.393	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		5	78	0	0	0	0	5	78				
CBL	867	broad.mit.edu	37	11	119144609	119144609	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:119144609G>C	ENST00000264033.4	+	4	998	c.622G>C	c.(622-624)Gct>Cct	p.A208P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	208	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTTCGACAGGCTCTACATGA	0.458			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2		NA		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					0				haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(622-624)GCT>CCT		Cas-Br-M (murine) ecotropic retroviral							88.0	83.0	84.0					11																	119144609		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119144609G>C	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.622G>C	11.37:g.119144609G>C	ENSP00000264033:p.Ala208Pro						p.A208P	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	4	760	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	208			Cbl-PTB.|EF-hand-like.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.622G>C	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259055	0.59321	.	.	ENSG00000110395	ENST00000264033	T	0.78364	-1.17	5.48	5.48	0.80851	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.051975	0.85682	D	0.000000	D	0.84723	0.5535	L	0.54323	1.7	0.80722	D	1	D	0.52996	0.957	P	0.60886	0.88	D	0.83644	0.0152	10	0.42905	T	0.14	-33.6773	19.3601	0.94434	0.0:0.0:1.0:0.0	.	208	P22681	CBL_HUMAN	P	208	ENSP00000264033:A208P	ENSP00000264033:A208P	A	+	1	0	CBL	118649819	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.270000	0.72563	2.593000	0.87608	0.491000	0.48974	GCT		0.458	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		24	56	0	0	0	0	24	56				
TBCEL	219899	broad.mit.edu	37	11	120925915	120925915	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:120925915A>T	ENST00000529397.1	+	5	710	c.610A>T	c.(610-612)Acc>Tcc	p.T204S	TBCEL_ENST00000422003.2_Missense_Mutation_p.T204S	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	204						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTCACTGGATACCCTCGTCCT	0.418																																						uc009zay.2		NA																	0				skin(1)	1						c.(610-612)ACC>TCC		tubulin folding cofactor E-like							127.0	113.0	118.0					11																	120925915		2203	4299	6502	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120925915A>T	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.610A>T	11.37:g.120925915A>T	ENSP00000437184:p.Thr204Ser					TBCEL_uc001pxo.2_Missense_Mutation_p.T204S|TBCEL_uc001pxp.2_Missense_Mutation_p.T60S|TBCEL_uc001pxq.2_Intron	p.T204S	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	5	688	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	204			LRR 6.		Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.610A>T	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	A	9.636	1.137679	0.21123	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000524726;ENST00000533169	T;T;T	0.37915	1.17;1.17;1.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.25957	0.775	0.52099	D	0.999945	B	0.17038	0.02	B	0.18871	0.023	T	0.09574	-1.0668	10	0.02654	T	1	-7.6962	16.4383	0.83889	1.0:0.0:0.0:0.0	.	204	Q5QJ74	TBCEL_HUMAN	S	204;204;204;7	ENSP00000437184:T204S;ENSP00000403925:T204S;ENSP00000432783:T204S	ENSP00000403925:T204S	T	+	1	0	TBCEL	120431125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.287000	0.76781	0.482000	0.46254	ACC		0.418	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		40	63	0	0	0	0	40	63				
SORL1	6653	broad.mit.edu	37	11	121476228	121476228	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:121476228C>G	ENST00000260197.7	+	35	5025	c.4896C>G	c.(4894-4896)ctC>ctG	p.L1632L	SORL1_ENST00000534286.1_Silent_p.L542L|SORL1_ENST00000525532.1_Silent_p.L576L|SORL1_ENST00000532694.1_Silent_p.L478L|SORL1_ENST00000527934.1_Silent_p.L247L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1632	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCAGTGTCTCAGCAAGGCAC	0.443																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4894-4896)CTC>CTG		sortilin-related receptor containing LDLR class							210.0	196.0	200.0					11																	121476228		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121476228C>G	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4896C>G	11.37:g.121476228C>G						SORL1_uc010rzp.1_Silent_p.L478L|SORL1_uc010rzq.1_Silent_p.L247L	p.L1632L	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	35	4976	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1632			Extracellular (Potential).|Fibronectin type-III 1.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.4896C>G	CCDS8436.1																																																																																				0.443	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		29	357	0	0	0	0	29	357				
C12orf60	144608	broad.mit.edu	37	12	14976373	14976373	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:14976373C>T	ENST00000330828.2	+	2	708	c.504C>T	c.(502-504)acC>acT	p.T168T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	168										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CAGATGTCACCACATCTGAGA	0.393																																						uc001rcj.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(502-504)ACC>ACT		hypothetical protein LOC144608							59.0	59.0	59.0					12																	14976373		2203	4300	6503	SO:0001819	synonymous_variant	144608							g.chr12:14976373C>T	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.504C>T	12.37:g.14976373C>T							p.T168T	NM_175874	NP_787070	Q5U649	CL060_HUMAN			2	708	+			168					A8K1M7|Q5XKK8|Q8IXY2	Silent	SNP	ENST00000330828.2	37	c.504C>T	CCDS8667.1																																																																																				0.393	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		6	77	0	0	0	0	6	77				
SCN8A	6334	broad.mit.edu	37	12	52139700	52139700	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:52139700T>G	ENST00000354534.6	+	13	2190	c.2012T>G	c.(2011-2013)gTg>gGg	p.V671G	SCN8A_ENST00000545061.1_Missense_Mutation_p.V671G|SCN8A_ENST00000550891.1_Missense_Mutation_p.V671G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	671					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACAACTGAGGTGGAAATTAAG	0.388																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(2011-2013)GTG>GGG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						64.0	62.0	62.0					12																	52139700		1794	4074	5868	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52139700T>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2012T>G	12.37:g.52139700T>G	ENSP00000346534:p.Val671Gly					SCN8A_uc010snl.1_Missense_Mutation_p.V536G|SCN8A_uc001ryx.1_Missense_Mutation_p.V547G|SCN8A_uc001ryz.1_Missense_Mutation_p.V547G|SCN8A_uc001ryy.2_Missense_Mutation_p.V536G	p.V671G	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	13	2190	+			671					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2012T>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147532	0.57151	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.17	5.17	0.71159	Domain of unknown function DUF3451 (1);	0.675596	0.13302	N	0.398170	D	0.90909	0.7143	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.28880	0.008;0.0;0.226;0.022	B;B;B;B	0.37304	0.033;0.001;0.246;0.047	D	0.88854	0.3321	10	0.56958	D	0.05	.	15.4888	0.75587	0.0:0.0:0.0:1.0	.	671;682;671;671	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	G	671;671;671;671;584	ENSP00000448415:V671G;ENSP00000346534:V671G;ENSP00000440360:V671G;ENSP00000347255:V671G	ENSP00000346534:V671G	V	+	2	0	SCN8A	50425967	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.717000	0.61923	2.299000	0.77371	0.528000	0.53228	GTG		0.388	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		8	65	0	0	0	0	8	65				
SUOX	6821	broad.mit.edu	37	12	56396425	56396425	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:56396425C>G	ENST00000394109.3	+	2	873	c.149C>G	c.(148-150)tCc>tGc	p.S50C	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000266971.3_Missense_Mutation_p.S50C|SUOX_ENST00000548274.1_Missense_Mutation_p.S50C|SUOX_ENST00000356124.4_Missense_Mutation_p.S50C|SUOX_ENST00000551841.2_Missense_Mutation_p.S50C|SUOX_ENST00000394115.2_Missense_Mutation_p.S50C			P51687	SUOX_HUMAN	sulfite oxidase	50					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGTGATAACTCCAGCACCCAG	0.537																																						uc001six.2		NA																	0					0						c.(148-150)TCC>TGC		sulfite oxidase precursor							127.0	116.0	120.0					12																	56396425		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56396425C>G	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.149C>G	12.37:g.56396425C>G	ENSP00000377668:p.Ser50Cys					SUOX_uc009zoh.2_Missense_Mutation_p.S50C|SUOX_uc001siy.2_Missense_Mutation_p.S50C|SUOX_uc001siz.2_Missense_Mutation_p.S50C|SUOX_uc001sja.2_Missense_Mutation_p.S50C	p.S50C	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		5	475	+			50						Missense_Mutation	SNP	ENST00000394109.3	37	c.149C>G	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	7.637	0.680034	0.14907	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000552258;ENST00000548274;ENST00000546833;ENST00000551841;ENST00000394109	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	4.69	2.76	0.32466	.	0.720633	0.12884	N	0.431165	D	0.85969	0.5821	L	0.29908	0.895	0.09310	N	1	P	0.52463	0.953	B	0.43155	0.41	T	0.75797	-0.3191	10	0.37606	T	0.19	-7.1605	7.6316	0.28243	0.1889:0.6289:0.1822:0.0	.	50	P51687	SUOX_HUMAN	C	50	ENSP00000348440:S50C;ENSP00000266971:S50C;ENSP00000377674:S50C;ENSP00000450245:S50C;ENSP00000377668:S50C	ENSP00000266971:S50C	S	+	2	0	SUOX	54682692	0.001000	0.12720	0.047000	0.18901	0.047000	0.14425	0.123000	0.15708	0.647000	0.30713	0.585000	0.79938	TCC		0.537	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		39	201	0	0	0	0	39	201				
SMARCC2	6601	broad.mit.edu	37	12	56572300	56572300	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:56572300T>C	ENST00000267064.4	-	14	1284	c.1198A>G	c.(1198-1200)Acg>Gcg	p.T400A	SMARCC2_ENST00000347471.4_Missense_Mutation_p.T400A|SMARCC2_ENST00000550164.1_Missense_Mutation_p.T400A|SMARCC2_ENST00000394023.3_Missense_Mutation_p.T400A|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	400					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|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)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGTTCCCCGTACTGTTCTCA	0.542																																						uc001skb.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1198-1200)ACG>GCG		SWI/SNF-related matrix-associated							415.0	291.0	333.0					12																	56572300		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56572300T>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1198A>G	12.37:g.56572300T>C	ENSP00000267064:p.Thr400Ala					SMARCC2_uc001skd.2_Missense_Mutation_p.T400A|SMARCC2_uc001ska.2_Missense_Mutation_p.T400A|SMARCC2_uc001skc.2_Missense_Mutation_p.T400A|SMARCC2_uc010sqf.1_Missense_Mutation_p.T289A	p.T400A	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		14	1304	-			400					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1198A>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	8.918	0.960356	0.18507	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.42513	0.97;0.97;0.97	5.48	4.33	0.51752	.	0.249192	0.40908	D	0.000994	T	0.17238	0.0414	N	0.08118	0	0.32690	N	0.514266	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.001	T	0.17167	-1.0378	10	0.14252	T	0.57	-7.7744	3.4164	0.07377	0.1787:0.1486:0.0:0.6727	.	289;400;405;400;400	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	A	400	ENSP00000449396:T400A;ENSP00000302919:T400A;ENSP00000267064:T400A	ENSP00000267064:T400A	T	-	1	0	SMARCC2	54858567	0.292000	0.24362	0.995000	0.50966	0.953000	0.61014	0.483000	0.22292	2.216000	0.71823	0.533000	0.62120	ACG		0.542	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			5	145	0	0	0	0	5	145				
MARS	4141	broad.mit.edu	37	12	57883081	57883081	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:57883081G>A	ENST00000262027.5	+	3	366	c.232G>A	c.(232-234)Gat>Aat	p.D78N	ARHGAP9_ENST00000550288.1_5'Flank|ARHGAP9_ENST00000393797.2_5'Flank|MARS_ENST00000315473.5_De_novo_Start_OutOfFrame|MARS_ENST00000447721.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	78	GST C-terminal.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGGAGCAAGATGACCTCAC	0.517																																						uc001sog.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(232-234)GAT>AAT		methionyl-tRNA synthetase	L-Methionine(DB00134)						111.0	110.0	110.0					12																	57883081		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57883081G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.232G>A	12.37:g.57883081G>A	ENSP00000262027:p.Asp78Asn					ARHGAP9_uc001sod.2_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_RNA|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	p.D78N	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		3	255	+			78			GST C-terminal.		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.232G>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942119	0.73672	.	.	ENSG00000166986	ENST00000262027	T	0.78364	-1.17	4.46	4.46	0.54185	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.313641	0.34580	N	0.003852	T	0.61388	0.2343	N	0.22421	0.69	0.80722	D	1	B	0.18741	0.03	B	0.12837	0.008	T	0.55573	-0.8120	10	0.15952	T	0.53	-15.6803	10.604	0.45384	0.0:0.0:0.8073:0.1927	.	78	P56192	SYMC_HUMAN	N	78	ENSP00000262027:D78N	ENSP00000262027:D78N	D	+	1	0	MARS	56169348	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	2.222000	0.42926	2.414000	0.81942	0.655000	0.94253	GAT		0.517	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		11	158	0	0	0	0	11	158				
NUP107	57122	broad.mit.edu	37	12	69109407	69109407	+	Splice_Site	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:69109407G>T	ENST00000229179.4	+	12	1302	c.970G>T	c.(970-972)Gac>Tac	p.D324Y	NUP107_ENST00000378905.2_Splice_Site_p.D173Y|NUP107_ENST00000539906.1_Splice_Site_p.D295Y	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	324					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTTACAGGACCCTGATGC	0.358																																						uc001suf.2		NA																	0				skin(1)	1						c.(970-972)GAC>TAC		nucleoporin 107kDa							139.0	143.0	142.0					12																	69109407		2203	4300	6503	SO:0001630	splice_region_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69109407G>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.970-1G>T	12.37:g.69109407G>T						NUP107_uc001sug.2_Missense_Mutation_p.D171Y|NUP107_uc010stj.1_Missense_Mutation_p.D295Y	p.D324Y	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		12	1085	+	Breast(13;6.25e-06)		324					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.970G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768014	0.69878	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	4.91	4.91	0.64330	.	0.091026	0.64402	D	0.000001	D	0.84401	0.5464	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.996	D;D;D	0.87578	0.957;0.998;0.957	D	0.86569	0.1846	8	.	.	.	-10.1907	18.4646	0.90750	0.0:0.0:1.0:0.0	.	295;173;324	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	Y	324;173;295	.	.	D	+	1	0	NUP107	67395674	1.000000	0.71417	0.987000	0.45799	0.584000	0.36387	9.053000	0.93860	2.452000	0.82932	0.563000	0.77884	GAC		0.358	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	Missense_Mutation	49	109	1	0	2.08e-19	3.26e-19	49	109				
TBC1D15	64786	broad.mit.edu	37	12	72278770	72278770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:72278770G>T	ENST00000550746.1	+	5	587	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.E175*|TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.E183*|TBC1D15_ENST00000393309.3_Intron	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	175					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTACTGATTGAATCTCTTGA	0.353																																						uc001swu.2		NA																	0					0						c.(589-591)GAA>TAA		TBC1 domain family, member 15 isoform 1							165.0	162.0	163.0					12																	72278770		2203	4300	6503	SO:0001587	stop_gained	64786						protein binding|Rab GTPase activator activity	g.chr12:72278770G>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.523G>T	12.37:g.72278770G>T	ENSP00000448182:p.Glu175*					TBC1D15_uc009zrv.2_Nonsense_Mutation_p.E76*|TBC1D15_uc010stt.1_Nonsense_Mutation_p.E183*|TBC1D15_uc001swv.2_Nonsense_Mutation_p.E197*|TBC1D15_uc001sww.2_Intron	p.E197*	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			5	598	+			175					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Nonsense_Mutation	SNP	ENST00000550746.1	37	c.589G>T	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	36	5.874548	0.97055	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	.	.	.	5.49	5.49	0.81192	.	0.471158	0.24991	N	0.033987	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.2462	9.1935	0.37213	0.0833:0.1498:0.7668:0.0	.	.	.	.	X	76;175;76;183;175	.	ENSP00000318262:E183X	E	+	1	0	TBC1D15	70565037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.975000	0.63777	2.556000	0.86216	0.591000	0.81541	GAA		0.353	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		15	77	1	0	2.32e-05	3.17e-05	15	77				
NAV3	89795	broad.mit.edu	37	12	78444768	78444768	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:78444768G>A	ENST00000397909.2	+	11	2530	c.2357G>A	c.(2356-2358)cGt>cAt	p.R786H	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.R786H|NAV3_ENST00000228327.6_Missense_Mutation_p.R786H|NAV3_ENST00000266692.7_Missense_Mutation_p.R786H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	786						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACGCCTCTCCGTCGAGCTGCT	0.557										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2356-2358)CGT>CAT		neuron navigator 3							64.0	64.0	64.0					12																	78444768		2086	4210	6296	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444768G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2357G>A	12.37:g.78444768G>A	ENSP00000381007:p.Arg786His	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R786H|NAV3_uc010sub.1_Missense_Mutation_p.R286H	p.R786H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2530	+			786					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2357G>A		.	.	.	.	.	.	.	.	.	.	G	19.99	3.929057	0.73327	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.38560	1.23;1.22;1.24;1.13	5.79	5.79	0.91817	.	0.000000	0.40818	U	0.001018	T	0.65780	0.2724	M	0.69358	2.11	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.588	D;P;B	0.78314	0.991;0.869;0.103	T	0.66642	-0.5872	10	0.87932	D	0	-14.6716	20.031	0.97536	0.0:0.0:1.0:0.0	.	786;786;786	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	H	786	ENSP00000446132:R786H;ENSP00000381007:R786H;ENSP00000228327:R786H;ENSP00000266692:R786H	ENSP00000228327:R786H	R	+	2	0	NAV3	76968899	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	4.170000	0.58229	2.735000	0.93741	0.655000	0.94253	CGT		0.557	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		17	40	0	0	0	0	17	40				
CEP83	51134	broad.mit.edu	37	12	94806149	94806149	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:94806149A>T	ENST00000397809.5	-	3	667	c.118T>A	c.(118-120)Tta>Ata	p.L40I	CCDC41_ENST00000339839.5_Missense_Mutation_p.L40I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L7I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L40I	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		32					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCACATCGTAACCTTTCATCA	0.378																																						uc001tdd.2		NA																	0					0						c.(118-120)TTA>ATA		NY-REN-58 antigen							129.0	124.0	126.0					12																	94806149		1857	4117	5974	SO:0001583	missense	51134							g.chr12:94806149A>T																												ENST00000397809.5:c.118T>A	12.37:g.94806149A>T	ENSP00000380911:p.Leu40Ile					CCDC41_uc001tde.2_Missense_Mutation_p.L40I|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.L40I	p.L40I	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			3	704	-			32			Potential.		A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.118T>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279283	0.40294	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.64803	0.83;0.83;0.88;-0.12	5.67	1.57	0.23409	.	.	.	.	.	T	0.43389	0.1245	L	0.36672	1.1	0.23673	N	0.997146	B;B;B	0.15473	0.013;0.013;0.005	B;B;B	0.12156	0.007;0.007;0.004	T	0.22417	-1.0217	9	0.21540	T	0.41	-0.7318	1.4215	0.02313	0.4854:0.1556:0.0865:0.2725	.	40;7;32	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	I	40;40;7;40	ENSP00000344655:L40I;ENSP00000380911:L40I;ENSP00000380909:L7I;ENSP00000448913:L40I	ENSP00000344655:L40I	L	-	1	2	CCDC41	93330280	0.341000	0.24801	0.987000	0.45799	0.964000	0.63967	0.364000	0.20325	0.434000	0.26340	0.533000	0.62120	TTA		0.378	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			32	116	0	0	0	0	32	116				
UTP20	27340	broad.mit.edu	37	12	101750774	101750774	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:101750774C>G	ENST00000261637.4	+	43	5779	c.5605C>G	c.(5605-5607)Ctt>Gtt	p.L1869V	snoU13_ENST00000458958.1_RNA	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1869					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACGCAGCACTCTTGCGAAAAT	0.388																																						uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(5605-5607)CTT>GTT		down-regulated in metastasis							82.0	76.0	78.0					12																	101750774		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101750774C>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5605C>G	12.37:g.101750774C>G	ENSP00000261637:p.Leu1869Val						p.L1869V	NM_014503	NP_055318	O75691	UTP20_HUMAN			43	5761	+			1869			HEAT 2.		Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5605C>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612610	0.66672	.	.	ENSG00000120800	ENST00000261637	T	0.75821	-0.97	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	M	0.79693	2.465	0.58432	D	0.999994	D	0.60575	0.988	P	0.59056	0.851	D	0.84677	0.0715	10	0.66056	D	0.02	-14.282	10.4272	0.44385	0.0:0.8561:0.0:0.1439	.	1869	O75691	UTP20_HUMAN	V	1869	ENSP00000261637:L1869V	ENSP00000261637:L1869V	L	+	1	0	UTP20	100274905	0.997000	0.39634	0.933000	0.37362	0.965000	0.64279	3.544000	0.53640	2.733000	0.93635	0.655000	0.94253	CTT		0.388	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		28	48	0	0	0	0	28	48				
RFX4	5992	broad.mit.edu	37	12	107109319	107109319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:107109319C>T	ENST00000392842.1	+	11	1549	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Nonsense_Mutation_p.Q285*|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Nonsense_Mutation_p.Q388*	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	379	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTCATCACCCAATGTAAGCT	0.458																																						uc001tlr.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1135-1137)CAA>TAA		regulatory factor X4 isoform c							169.0	138.0	149.0					12																	107109319		2203	4300	6503	SO:0001587	stop_gained	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107109319C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1135C>T	12.37:g.107109319C>T	ENSP00000376585:p.Gln379*					RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Nonsense_Mutation_p.Q388*|RFX4_uc001tlt.2_Nonsense_Mutation_p.Q388*|RFX4_uc001tlv.2_Nonsense_Mutation_p.Q285*	p.Q379*	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			11	1201	+			379			Necessary for dimerization.		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Nonsense_Mutation	SNP	ENST00000392842.1	37	c.1135C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	38	7.187814	0.98121	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	.	.	.	6.02	6.02	0.97574	.	0.100706	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-6.9841	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	379;388;388;285	.	ENSP00000229387:Q285X	Q	+	1	0	RFX4	105633449	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.408000	0.80041	2.865000	0.98341	0.655000	0.94253	CAA		0.458	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		49	96	0	0	0	0	49	96				
KCTD10	83892	broad.mit.edu	37	12	109893929	109893929	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:109893929C>A	ENST00000228495.6	-	6	998	c.717G>T	c.(715-717)caG>caT	p.Q239H	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.Q58H|KCTD10_ENST00000540411.1_Missense_Mutation_p.Q213H|KCTD10_ENST00000424763.2_Missense_Mutation_p.Q58H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	239					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TTACCTTGGTCTGTTTCTTCT	0.473																																						uc001toi.1		NA																	0					0						c.(715-717)CAG>CAT		potassium channel tetramerisation domain							106.0	95.0	99.0					12																	109893929		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109893929C>A	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.717G>T	12.37:g.109893929C>A	ENSP00000228495:p.Gln239His					KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.Q213H|KCTD10_uc001toj.1_Missense_Mutation_p.Q248H|KCTD10_uc001tok.1_Missense_Mutation_p.Q58H	p.Q239H	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN			6	805	-			239			PCNA-binding (By similarity).		Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.717G>T	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.99|12.99	2.103382|2.103382	0.37145|0.37145	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402;ENST00000540355|ENST00000538161	T;T|.	0.47869|.	0.85;0.83|.	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56934|0.56934	0.2019|0.2019	L|L	0.42581|0.42581	1.335|1.335	0.80722|0.80722	D|D	1|1	B;B;B|.	0.20368|.	0.044;0.044;0.026|.	B;B;B|.	0.23275|.	0.045;0.045;0.013|.	T|T	0.52003|0.52003	-0.8633|-0.8633	10|5	0.25106|.	T|.	0.35|.	-29.2915|-29.2915	10.6489|10.6489	0.45636|0.45636	0.0:0.912:0.0:0.088|0.0:0.912:0.0:0.088	.|.	213;216;239|.	F5GWA4;Q9H3F6-2;Q9H3F6|.	.;.;BACD3_HUMAN|.	H|I	239;58;81;58;213;58;58;58;58|205	ENSP00000228495:Q239H;ENSP00000441672:Q213H|.	ENSP00000228495:Q239H|.	Q|R	-|-	3|2	2|0	KCTD10|KCTD10	108378312|108378312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.229000|3.229000	0.51278|0.51278	2.586000|2.586000	0.87340|0.87340	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.473	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		25	62	1	0	4.78e-09	6.88e-09	25	62				
HECTD4	283450	broad.mit.edu	37	12	112711557	112711557	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:112711557G>C	ENST00000430131.2	-	10	1693	c.548C>G	c.(547-549)tCa>tGa	p.S183*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.S471*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.S433*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	183					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATAGTCATTTGAGCATGTCCA	0.443																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(547-549)TCA>TGA		chromosome 12 open reading frame 51							131.0	123.0	126.0					12																	112711557		2051	4199	6250	SO:0001587	stop_gained	283450							g.chr12:112711557G>C	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.548C>G	12.37:g.112711557G>C	ENSP00000404379:p.Ser183*					C12orf51_uc010syk.1_Nonsense_Mutation_p.S6*|C12orf51_uc001tts.2_Nonsense_Mutation_p.S6*|C12orf51_uc001ttt.3_Nonsense_Mutation_p.S6*	p.S183*	NM_001109662	NP_001103132					4	566	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.548C>G		.	.	.	.	.	.	.	.	.	.	G	49	15.003276	0.99819	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	433;183;471	.	ENSP00000366783:S433X	S	-	2	0	C12orf51	111195940	1.000000	0.71417	0.976000	0.42696	0.974000	0.67602	9.434000	0.97515	2.894000	0.99253	0.591000	0.81541	TCA		0.443	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		9	167	0	0	0	0	9	167				
HPD	3242	broad.mit.edu	37	12	122281718	122281718	+	Silent	SNP	T	T	C	rs142252243		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:122281718T>C	ENST00000289004.4	-	12	887	c.852A>G	c.(850-852)agA>agG	p.R284R	HPD_ENST00000543163.1_Silent_p.R245R	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	284					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ACTCCAGGCCTCTCTCTCTCA	0.537																																						uc001ubj.2		NA																	0					0						c.(850-852)AGA>AGG		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						131.0	121.0	124.0					12																	122281718		2203	4300	6503	SO:0001819	synonymous_variant	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122281718T>C	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.852A>G	12.37:g.122281718T>C						HPD_uc001ubk.2_Silent_p.R245R	p.R284R	NM_002150	NP_002141	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	12	892	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		284					A8K461|B3KQ63|Q13234	Silent	SNP	ENST00000289004.4	37	c.852A>G	CCDS9224.1																																																																																				0.537	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		3	93	0	0	0	0	3	93				
MPHOSPH9	10198	broad.mit.edu	37	12	123651318	123651318	+	Silent	SNP	G	G	A	rs200988653		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:123651318G>A	ENST00000606320.1	-	17	2681	c.2475C>T	c.(2473-2475)gaC>gaT	p.D825D	MPHOSPH9_ENST00000541076.2_Silent_p.D795D|MPHOSPH9_ENST00000302349.5_Silent_p.D673D|MPHOSPH9_ENST00000392425.3_Silent_p.D673D			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	825						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GCCTGCTGACGTCTGAAGTTG	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		17497	0.001		0.0	False		,,,				2504	0.0					uc001uel.2		NA																	0					0						c.(2017-2019)GAC>GAT		M-phase phosphoprotein 9							126.0	118.0	120.0					12																	123651318		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123651318G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2475C>T	12.37:g.123651318G>A						MPHOSPH9_uc010tal.1_Silent_p.D127D|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Silent_p.D127D	p.D673D	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	13	2126	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		673					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.2019C>T																																																																																					0.473	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			73	146	0	0	0	0	73	146				
DNAH10	196385	broad.mit.edu	37	12	124408924	124408924	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:124408924A>G	ENST00000409039.3	+	66	11382	c.11357A>G	c.(11356-11358)gAc>gGc	p.D3786G	RP11-380L11.4_ENST00000602952.1_RNA|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3786					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGTTTTCAGACAACTTTGGG	0.453																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(11356-11358)GAC>GGC		dynein, axonemal, heavy chain 10							69.0	74.0	72.0					12																	124408924		1899	4114	6013	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124408924A>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11357A>G	12.37:g.124408924A>G	ENSP00000386770:p.Asp3786Gly					DNAH10_uc001ufu.3_5'Flank	p.D3786G	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	66	11382	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3786					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.11357A>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846150	0.32606	.	.	ENSG00000197653	ENST00000409039	T	0.22336	1.96	4.96	2.51	0.30379	Dynein heavy chain (1);	0.790932	0.11404	N	0.567545	T	0.22551	0.0544	L	0.55743	1.74	0.22562	N	0.998981	B	0.09022	0.002	B	0.15870	0.014	T	0.19910	-1.0291	10	0.42905	T	0.14	.	11.9378	0.52884	0.5736:0.4264:0.0:0.0	.	3786	Q8IVF4	DYH10_HUMAN	G	3786	ENSP00000386770:D3786G	ENSP00000386770:D3786G	D	+	2	0	DNAH10	122974877	0.884000	0.30299	0.000000	0.03702	0.197000	0.23852	3.436000	0.52856	0.208000	0.20626	0.459000	0.35465	GAC		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			14	38	0	0	0	0	14	38				
UBC	7316	broad.mit.edu	37	12	125397588	125397588	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:125397588C>G	ENST00000536769.1	-	1	2306	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.E168Q|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.E244Q			P0CG48	UBC_HUMAN	ubiquitin C	244	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCTCGACCTCAAGGGTGATG	0.512																																						uc001ugs.3		NA																	0				ovary(2)	2						c.(730-732)GAG>CAG		ubiquitin C							223.0	200.0	208.0					12																	125397588		2203	4299	6502	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397588C>G		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.730G>C	12.37:g.125397588C>G	ENSP00000441543:p.Glu244Gln					UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.E244Q|UBC_uc001ugt.2_Missense_Mutation_p.E244Q|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.E92Q	p.E244Q	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	1178	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		244			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.730G>C	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	17.24	3.338519	0.60963	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000541272	T;T;T;T	0.80393	-1.1;-1.1;-1.1;-1.37	2.93	2.93	0.34026	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.48767	U	0.000179	T	0.81384	0.4811	L	0.48174	1.505	0.80722	D	1	P;B;D	0.57899	0.892;0.08;0.981	P;B;P	0.54544	0.755;0.05;0.731	D	0.83452	0.0049	10	0.87932	D	0	.	11.8225	0.52247	0.0:1.0:0.0:0.0	.	333;244;244	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	Q	244;244;168;244;168;168	ENSP00000441543:E244Q;ENSP00000344818:E244Q;ENSP00000438394:E168Q;ENSP00000440205:E168Q	ENSP00000344818:E244Q	E	-	1	0	UBC	123963541	0.996000	0.38824	0.998000	0.56505	0.935000	0.57460	3.558000	0.53749	1.687000	0.51057	0.543000	0.68304	GAG		0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		21	330	0	0	0	0	21	330				
ATP12A	479	broad.mit.edu	37	13	25263504	25263504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:25263504G>C	ENST00000381946.3	+	5	704	c.537G>C	c.(535-537)atG>atC	p.M179I	ATP12A_ENST00000218548.6_Missense_Mutation_p.M179I			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	179					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCAATAAGATGATCCCTCAGG	0.552																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(535-537)ATG>ATC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						162.0	148.0	153.0					13																	25263504		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25263504G>C	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.537G>C	13.37:g.25263504G>C	ENSP00000371372:p.Met179Ile					ATP12A_uc010aaa.2_Missense_Mutation_p.M179I	p.M179I	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	5	724	+		Lung SC(185;0.0225)|Breast(139;0.077)	179			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.537G>C	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432985	0.83776	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89415	-2.51;-2.51	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.94122	0.8115	M	0.87971	2.92	0.80722	D	1	P;D	0.54964	0.828;0.969	B;P	0.58721	0.441;0.844	D	0.94880	0.8038	10	0.87932	D	0	.	16.1375	0.81497	0.0:0.0:1.0:0.0	.	179;179	P54707-2;P54707	.;AT12A_HUMAN	I	179	ENSP00000218548:M179I;ENSP00000371372:M179I	ENSP00000218548:M179I	M	+	3	0	ATP12A	24161504	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.032000	0.76498	2.680000	0.91292	0.561000	0.74099	ATG		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		20	124	0	0	0	0	20	124				
MTUS2	23281	broad.mit.edu	37	13	29599738	29599738	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:29599738A>T	ENST00000431530.3	+	1	991	c.933A>T	c.(931-933)ttA>ttT	p.L311F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	301						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGCACAATTAGGTCAGGGAA	0.517																																						uc001usl.3		NA																	0					0						c.(931-933)TTA>TTT		hypothetical protein LOC23281 isoform a							43.0	43.0	43.0					13																	29599738		1965	4154	6119	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599738A>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.933A>T	13.37:g.29599738A>T	ENSP00000392057:p.Leu311Phe						p.L311F	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	991	+			301					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.933A>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	13.79	2.343430	0.41498	.	.	ENSG00000132938	ENST00000431530	T	0.15372	2.43	5.49	-1.37	0.09056	.	0.732941	0.11701	N	0.537960	T	0.14313	0.0346	L	0.60455	1.87	0.23510	N	0.997525	B	0.27700	0.186	B	0.25759	0.063	T	0.25676	-1.0125	9	.	.	.	.	6.4448	0.21869	0.5607:0.0:0.3314:0.1079	.	301	Q5JR59	MTUS2_HUMAN	F	311	ENSP00000392057:L311F	.	L	+	3	2	MTUS2	28497738	0.000000	0.05858	0.004000	0.12327	0.322000	0.28314	0.193000	0.17116	-0.165000	0.10908	-0.411000	0.06167	TTA		0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		19	24	0	0	0	0	19	24				
N4BP2L2	10443	broad.mit.edu	37	13	33016826	33016826	+	Silent	SNP	C	C	T	rs534972548		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:33016826C>T	ENST00000504114.1	-	6	1894	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Silent_p.L616L|N4BP2L2_ENST00000357505.6_Silent_p.L601L|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAGTCAAAAACAGTTTCTTGT	0.323																																						uc010abe.1		NA																	0					0						c.(1846-1848)CTG>CTA		phosphonoformate immuno-associated protein 5							39.0	39.0	39.0					13																	33016826		1807	4068	5875	SO:0001819	synonymous_variant	10443							g.chr13:33016826C>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1803G>A	13.37:g.33016826C>T						N4BP2L2_uc001uug.2_Silent_p.L499L|N4BP2L2_uc010abd.1_Silent_p.L529L|N4BP2L2_uc001uuh.2_Silent_p.L447L|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.L601L	p.L616L	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1870	-		Lung SC(185;0.0262)	Error:Variant_position_missing_in_Q92802_after_alignment					A3KME8	Silent	SNP	ENST00000504114.1	37	c.1848G>A																																																																																					0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		25	30	0	0	0	0	25	30				
PDS5B	23047	broad.mit.edu	37	13	33281144	33281144	+	Missense_Mutation	SNP	C	C	G	rs141013786		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:33281144C>G	ENST00000315596.10	+	18	2116	c.1930C>G	c.(1930-1932)Caa>Gaa	p.Q644E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	644					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCCAACTGATCAAGCCATCAG	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		17891	0.001		0.0	False		,,,				2504	0.0					uc010abf.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(1930-1932)CAA>GAA		PDS5, regulator of cohesion maintenance, homolog							109.0	105.0	107.0					13																	33281144		1883	4110	5993	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33281144C>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1930C>G	13.37:g.33281144C>G	ENSP00000313851:p.Gln644Glu					PDS5B_uc010abg.2_RNA	p.Q644E	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	18	2088	+		Lung SC(185;0.0367)	644					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1930C>G	CCDS41878.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	5.305	0.241663	0.10077	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.049002	0.85682	D	0.000000	T	0.15435	0.0372	N	0.00413	-1.525	0.48185	D	0.999609	B	0.02656	0.0	B	0.04013	0.001	T	0.42292	-0.9460	9	0.06365	T	0.9	3.0266	20.3011	0.98612	0.0:1.0:0.0:0.0	.	644	Q9NTI5	PDS5B_HUMAN	E	644	.	ENSP00000313851:Q644E	Q	+	1	0	PDS5B	32179144	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.284000	0.51708	2.804000	0.96469	0.650000	0.86243	CAA		0.313	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		12	73	0	0	0	0	12	73				
STOML3	161003	broad.mit.edu	37	13	39564848	39564848	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:39564848C>A	ENST00000379631.4	-	1	355	c.11G>T	c.(10-12)aGg>aTg	p.R4M	STOML3_ENST00000423210.1_De_novo_Start_InFrame	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	4					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGAAGACACCCTAGAATCCAT	0.408																																						uc001uwx.2		NA																	0				ovary(1)	1						c.(10-12)AGG>ATG		stomatin-like 3 isoform 1							132.0	127.0	129.0					13																	39564848		2203	4300	6503	SO:0001583	missense	161003					integral to membrane|plasma membrane		g.chr13:39564848C>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.11G>T	13.37:g.39564848C>A	ENSP00000368952:p.Arg4Met					STOML3_uc010tez.1_Translation_Start_Site	p.R4M	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	1	149	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	4					B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.11G>T	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	C	8.892	0.954139	0.18431	.	.	ENSG00000133115	ENST00000379631	D	0.98649	-5.05	4.71	3.8	0.43715	.	0.718890	0.13378	U	0.392342	D	0.95198	0.8443	N	0.19112	0.55	0.21256	N	0.999748	B	0.17268	0.021	B	0.17433	0.018	D	0.90463	0.4447	10	0.54805	T	0.06	-8.955	7.2961	0.26393	0.1901:0.6258:0.1841:0.0	.	4	Q8TAV4	STML3_HUMAN	M	4	ENSP00000368952:R4M	ENSP00000368952:R4M	R	-	2	0	STOML3	38462848	0.220000	0.23631	0.834000	0.33040	0.536000	0.34869	0.593000	0.23999	2.153000	0.67306	0.650000	0.86243	AGG		0.408	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			10	98	1	0	0.000219431	0.000296274	10	98				
RB1	5925	broad.mit.edu	37	13	48955580	48955580	+	Splice_Site	SNP	G	G	A	rs587778857		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:48955580G>A	ENST00000267163.4	+	17	1833		c.e17+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATGGCTCTCAGTAAGTAGCTA	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		20	Whole gene deletion(15)|Unknown(5)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|urinary_tract(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS051701	RB1	S		c.e17+1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						62.0	58.0	59.0					13																	48955580		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955580G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1695+1G>A	13.37:g.48955580G>A		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S565_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1861	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1695_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782441	0.90282	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47853581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.349000	0.97066	2.488000	0.83962	0.650000	0.86243	.		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	13	15	0	0	0	0	13	15				
CYSLTR2	57105	broad.mit.edu	37	13	49281892	49281893	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:49281892_49281893GG>TT	ENST00000282018.3	+	1	942_943	c.939_940GG>TT	c.(937-942)aaGGac>aaTTac	p.313_314KD>NY		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	313					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGAATTTTAAGGACAGACTAAA	0.441																																						uc010acx.1		NA																	0				lung(2)	2						c.(937-942)AAGGAC>AATTAC		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)																																			SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281892_49281893GG>TT	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	Exception_encountered	13.37:g.49281892_49281893delinsTT	ENSP00000282018:p.K313_D314delinsNY					CYSLTR2_uc010acy.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010acz.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010ada.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010adb.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010adc.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010add.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010acw.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc001vck.2_Missense_Mutation_p.313_314KD>NY	p.313_314KD>NY	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1622_1623	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	313_314			Cytoplasmic (Potential).		Q9HCQ2	Missense_Mutation	DNP	ENST00000282018.3	37	c.939_940GG>TT	CCDS9412.1																																																																																				0.441	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			55	50	0	0	0	0	55	50				
PCCA	5095	broad.mit.edu	37	13	100807338	100807338	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:100807338G>T	ENST00000376285.1	+	5	444	c.406G>T	c.(406-408)Gcc>Tcc	p.A136S	PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376279.3_Missense_Mutation_p.A136S|PCCA_ENST00000376286.4_Missense_Mutation_p.A110S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	136	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GAAAACCAGGGCCCAAGCTGT	0.423																																						uc001voo.2		NA																	0				skin(2)	2						c.(406-408)GCC>TCC		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						94.0	93.0	93.0					13																	100807338		2203	4300	6503	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100807338G>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.406G>T	13.37:g.100807338G>T	ENSP00000365462:p.Ala136Ser					PCCA_uc010aga.2_Missense_Mutation_p.A110S|PCCA_uc010tiz.1_Missense_Mutation_p.A136S	p.A136S	NM_000282	NP_000273	P05165	PCCA_HUMAN			5	444	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		136			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.406G>T	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194003	0.78902	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.93604	-3.25;-3.25;-3.25	5.69	4.83	0.62350	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.061922	0.64402	N	0.000005	D	0.96324	0.8801	M	0.86097	2.795	0.80722	D	1	D;P;P	0.57257	0.979;0.804;0.692	P;P;P	0.59889	0.865;0.656;0.668	D	0.96370	0.9273	10	0.54805	T	0.06	.	15.9262	0.79618	0.0:0.0:0.8638:0.1361	.	136;110;136	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	S	110;136;136	ENSP00000365463:A110S;ENSP00000365456:A136S;ENSP00000365462:A136S	ENSP00000365456:A136S	A	+	1	0	PCCA	99605339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.893000	0.87330	1.364000	0.46038	0.655000	0.94253	GCC		0.423	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			103	52	1	0	7.35e-47	1.24e-46	103	52				
POTEG	404785	broad.mit.edu	37	14	19553818	19553818	+	Missense_Mutation	SNP	C	C	G	rs545468513		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:19553818C>G	ENST00000409832.3	+	1	454	c.402C>G	c.(400-402)caC>caG	p.H134Q		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	134										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGAGGTACCACGTCCGTCGAG	0.587																																						uc001vuz.1		NA																	0				ovary(1)	1						c.(400-402)CAC>CAG		POTE ankyrin domain family, member G							125.0	137.0	133.0					14																	19553818		1848	3844	5692	SO:0001583	missense	404785							g.chr14:19553818C>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.402C>G	14.37:g.19553818C>G	ENSP00000386971:p.His134Gln					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.H134Q	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	454	+			134					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.402C>G	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	10.59	1.392250	0.25118	.	.	ENSG00000222036	ENST00000409832	T	0.52295	0.67	1.47	0.545	0.17190	.	.	.	.	.	T	0.47710	0.1460	L	0.50333	1.59	0.09310	N	1	D	0.54772	0.968	P	0.54210	0.745	T	0.32771	-0.9894	9	0.51188	T	0.08	.	3.7948	0.08736	0.0:0.7499:0.0:0.2501	.	134	Q6S5H5	POTEG_HUMAN	Q	134	ENSP00000386971:H134Q	ENSP00000386971:H134Q	H	+	3	2	POTEG	18623818	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.190000	0.09615	0.172000	0.19760	-0.481000	0.04817	CAC		0.587	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		23	458	0	0	0	0	23	458				
FOXG1	2290	broad.mit.edu	37	14	29237608	29237608	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:29237608G>T	ENST00000313071.4	+	1	1322	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S	FOXG1_ENST00000382535.3_Missense_Mutation_p.A375S	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	375					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GATCCCGTACGCCACGCACCA	0.677																																						uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(1123-1125)GCC>TCC		forkhead box G1							55.0	47.0	50.0					14																	29237608		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237608G>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1123G>T	14.37:g.29237608G>T	ENSP00000339004:p.Ala375Ser						p.A375S	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1322	+			375					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1123G>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515863	0.44763	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93189	-3.18;-3.18	4.21	4.21	0.49690	.	0.000000	0.85682	U	0.000000	D	0.88194	0.6371	L	0.27053	0.805	0.58432	D	0.999992	P	0.48407	0.91	B	0.42593	0.392	D	0.87217	0.2251	10	0.30854	T	0.27	.	13.5401	0.61668	0.0:0.0:0.8437:0.1563	.	375	P55316	FOXG1_HUMAN	S	375	ENSP00000371975:A375S;ENSP00000339004:A375S	ENSP00000339004:A375S	A	+	1	0	FOXG1	28307359	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.636000	0.61339	2.042000	0.60477	0.491000	0.48974	GCC		0.677	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			40	88	1	0	2.76e-19	4.3e-19	40	88				
FOXA1	3169	broad.mit.edu	37	14	38060620	38060620	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:38060620G>A	ENST00000250448.2	-	2	1430	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.P424S	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	457					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGTACGCCGGCTCCAGGGCT	0.612																																						uc001wuf.2		NA																	0					0						c.(1369-1371)CCG>TCG		forkhead box A1							57.0	63.0	61.0					14																	38060620		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060620G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1369C>T	14.37:g.38060620G>A	ENSP00000250448:p.Pro457Ser					FOXA1_uc010tpz.1_Missense_Mutation_p.P424S	p.P457S	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1681	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		457					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.1369C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382247	0.11524	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.39229	1.09;1.09	4.13	4.13	0.48395	Forkhead box protein, C-terminal (1);	0.000000	0.51477	D	0.000100	T	0.27559	0.0677	N	0.24115	0.695	0.41956	D	0.990684	P	0.39216	0.664	B	0.38842	0.283	T	0.06698	-1.0812	10	0.06625	T	0.88	.	15.3049	0.73985	0.0:0.0:1.0:0.0	.	457	P55317	FOXA1_HUMAN	S	457;424	ENSP00000250448:P457S;ENSP00000440178:P424S	ENSP00000250448:P457S	P	-	1	0	FOXA1	37130371	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.821000	0.62679	2.128000	0.65567	0.400000	0.26472	CCG		0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	103	0	0	0	0	4	103				
SLC35F4	341880	broad.mit.edu	37	14	58060786	58060786	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:58060786G>A	ENST00000339762.6	-	2	267	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Missense_Mutation_p.H54Y|SLC35F4_ENST00000557430.1_5'UTR			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	90					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGCCACTGTGTGAACTGGGG	0.488																																						uc001xdb.1		NA																	0				ovary(2)	2						c.(268-270)CAC>TAC		solute carrier family 35, member F4							78.0	78.0	78.0					14																	58060786		1954	4148	6102	SO:0001583	missense	341880							g.chr14:58060786G>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.268C>T	14.37:g.58060786G>A	ENSP00000342518:p.His90Tyr					SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR	p.H90Y	NM_001080455	NP_001073924					2	268	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.268C>T		.	.	.	.	.	.	.	.	.	.	G	16.09	3.024190	0.54683	.	.	ENSG00000151812	ENST00000556826;ENST00000339762	T;T	0.48836	0.9;0.8	5.83	5.83	0.93111	.	0.587506	0.19847	N	0.104731	T	0.42720	0.1215	L	0.34521	1.04	0.37103	D	0.89996	B	0.26445	0.149	B	0.25884	0.064	T	0.46596	-0.9180	10	0.87932	D	0	-2.2485	18.2945	0.90140	0.0:0.0:1.0:0.0	.	90	A4IF30	S35F4_HUMAN	Y	54;90	ENSP00000452086:H54Y;ENSP00000342518:H90Y	ENSP00000342518:H90Y	H	-	1	0	SLC35F4	57130539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.927000	0.70080	2.763000	0.94921	0.585000	0.79938	CAC		0.488	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		18	27	0	0	0	0	18	27				
SYT16	83851	broad.mit.edu	37	14	62550913	62550913	+	Splice_Site	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:62550913G>A	ENST00000430451.2	+	5	1631		c.e5-1			NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI						exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTCCCCTCCAGAGTGGAGGGT	0.522																																						uc001xfu.1		NA																	0				central_nervous_system(1)	1						c.e5-1		synaptotagmin XIV-like							97.0	93.0	94.0					14																	62550913		1962	4146	6108	SO:0001630	splice_region_variant	83851							g.chr14:62550913G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1435-1G>A	14.37:g.62550913G>A						SYT16_uc010tse.1_Splice_Site_p.S37_splice	p.S479_splice	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	1632	+								B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Splice_Site	SNP	ENST00000430451.2	37	c.1435_splice	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118409	0.77323	.	.	ENSG00000139973	ENST00000430451	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4718	0.94966	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYT16	61620666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.292000	0.78731	2.831000	0.97527	0.643000	0.83706	.		0.522	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	Intron	42	148	0	0	0	0	42	148				
ZBTB25	7597	broad.mit.edu	37	14	64954378	64954378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:64954378G>A	ENST00000608382.1	-	3	762	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	ZBTB25_ENST00000394715.1_Nonsense_Mutation_p.Q191*|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	191					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TCCAGGGCCTGGGTGGCAGGA	0.592																																						uc001xhf.2		NA																	0				ovary(1)|skin(1)	2						c.(571-573)CAG>TAG		zinc finger protein 46							149.0	167.0	161.0					14																	64954378		2203	4300	6503	SO:0001587	stop_gained	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64954378G>A	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.571C>T	14.37:g.64954378G>A	ENSP00000476746:p.Gln191*					ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Nonsense_Mutation_p.Q191*	p.Q191*	NM_006977	NP_008908	P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	3	754	-			191					B3KUX6|Q8IYH9	Nonsense_Mutation	SNP	ENST00000608382.1	37	c.571C>T	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	G	38	6.988206	0.97983	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	.	.	.	6.04	6.04	0.98038	.	0.627359	0.17512	N	0.171592	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-4.1269	16.8234	0.85924	0.0:0.0:0.871:0.129	.	.	.	.	X	191	.	ENSP00000261683:Q191X	Q	-	1	0	ZBTB25	64024131	1.000000	0.71417	0.982000	0.44146	0.331000	0.28603	6.959000	0.76031	2.873000	0.98535	0.561000	0.74099	CAG		0.592	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		141	286	0	0	0	0	141	286				
PLEKHH1	57475	broad.mit.edu	37	14	68029252	68029252	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:68029252A>T	ENST00000329153.5	+	7	1036	c.904A>T	c.(904-906)Agg>Tgg	p.R302W		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	302						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GACCTCTGCCAGGGAAGGTGG	0.592																																						uc001xjl.1		NA																	0					0						c.(904-906)AGG>TGG		pleckstrin homology domain containing, family H							39.0	44.0	43.0					14																	68029252		1951	4147	6098	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68029252A>T	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.904A>T	14.37:g.68029252A>T	ENSP00000330278:p.Arg302Trp						p.R302W	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	7	1046	+			302					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.904A>T	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.849620	0.71603	.	.	ENSG00000054690	ENST00000329153	T	0.27256	1.68	4.81	3.67	0.42095	.	0.602187	0.18911	N	0.127746	T	0.32615	0.0835	L	0.54323	1.7	0.80722	D	1	D	0.58620	0.983	P	0.52454	0.699	T	0.03259	-1.1055	10	0.48119	T	0.1	.	7.9767	0.30159	0.9047:0.0:0.0953:0.0	.	302	Q9ULM0	PKHH1_HUMAN	W	302	ENSP00000330278:R302W	ENSP00000330278:R302W	R	+	1	2	PLEKHH1	67099005	0.819000	0.29175	0.890000	0.34922	0.948000	0.59901	2.017000	0.40981	0.869000	0.35703	0.402000	0.26972	AGG		0.592	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		15	49	0	0	0	0	15	49				
SLC39A9	55334	broad.mit.edu	37	14	69919976	69919976	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:69919976C>G	ENST00000336643.5	+	4	1100	c.422C>G	c.(421-423)tCt>tGt	p.S141C	SLC39A9_ENST00000556605.1_Missense_Mutation_p.S141C|SLC39A9_ENST00000557046.1_Intron|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Missense_Mutation_p.S75C	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	141					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GCAGCAAGGTCTAGCAATTCC	0.453																																						uc001xle.2		NA																	0					0						c.(421-423)TCT>TGT		solute carrier family 39 (zinc transporter),							161.0	151.0	154.0					14																	69919976		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69919976C>G		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.422C>G	14.37:g.69919976C>G	ENSP00000336887:p.Ser141Cys					SLC39A9_uc010aqx.2_Intron|SLC39A9_uc001xlf.3_Missense_Mutation_p.S141C|SLC39A9_uc001xlg.3_RNA	p.S141C	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	4	1102	+			141					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.422C>G	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896577	0.33442	.	.	ENSG00000029364	ENST00000556605;ENST00000336643	T;T	0.48522	0.81;0.81	5.53	5.53	0.82687	.	0.657761	0.16230	N	0.223626	T	0.48466	0.1501	L	0.32530	0.975	0.80722	D	1	B;B	0.30793	0.25;0.295	B;B	0.38500	0.119;0.275	T	0.47849	-0.9085	10	0.56958	D	0.05	-0.2	19.4895	0.95044	0.0:1.0:0.0:0.0	.	141;141	G3V5J8;Q9NUM3	.;S39A9_HUMAN	C	141	ENSP00000452385:S141C;ENSP00000336887:S141C	ENSP00000031146:S141C	S	+	2	0	SLC39A9	68989729	0.054000	0.20591	0.389000	0.26208	0.332000	0.28634	3.070000	0.50033	2.596000	0.87737	0.655000	0.94253	TCT		0.453	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		7	199	0	0	0	0	7	199				
FLRT2	23768	broad.mit.edu	37	14	86088200	86088200	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:86088200C>T	ENST00000330753.4	+	2	1109	c.342C>T	c.(340-342)ctC>ctT	p.L114L	FLRT2_ENST00000554746.1_Silent_p.L114L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	114					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCAGAGTTCTCCATTTGCAGG	0.493																																						uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(340-342)CTC>CTT		fibronectin leucine rich transmembrane protein 2							99.0	98.0	99.0					14																	86088200		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088200C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.342C>T	14.37:g.86088200C>T						FLRT2_uc010atd.2_Silent_p.L114L	p.L114L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1109	+			114			LRR 3.|Extracellular (Potential).		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.342C>T	CCDS9877.1																																																																																				0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			61	133	0	0	0	0	61	133				
PTPN21	11099	broad.mit.edu	37	14	88983571	88983571	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:88983571T>G	ENST00000556564.1	-	3	499	c.215A>C	c.(214-216)cAa>cCa	p.Q72P	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.Q72P	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	72	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCTGATTTTGCTTGTTGTA	0.423																																						uc001xwv.3		NA																	0				ovary(3)|skin(1)	4						c.(214-216)CAA>CCA		protein tyrosine phosphatase, non-receptor type							89.0	91.0	90.0					14																	88983571		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983571T>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.215A>C	14.37:g.88983571T>G	ENSP00000452414:p.Gln72Pro					PTPN21_uc010twc.1_5'UTR|PTPN21_uc010atf.1_Missense_Mutation_p.Q72P	p.Q72P	NM_007039	NP_008970	Q16825	PTN21_HUMAN			3	546	-			72			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.215A>C	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397869	0.83120	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.76709	-1.04;-1.04;-1.04	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	N	0.16903	0.455	0.53688	D	0.999978	B;D	0.76494	0.344;0.999	B;D	0.85130	0.3;0.997	T	0.81780	-0.0776	10	0.45353	T	0.12	.	16.1024	0.81184	0.0:0.0:0.0:1.0	.	72;72	G3V3S6;Q16825	.;PTN21_HUMAN	P	72	ENSP00000330276:Q72P;ENSP00000452414:Q72P;ENSP00000451401:Q72P	ENSP00000330276:Q72P	Q	-	2	0	PTPN21	88053324	1.000000	0.71417	0.978000	0.43139	0.960000	0.62799	8.040000	0.89188	2.200000	0.70718	0.459000	0.35465	CAA		0.423	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			50	112	0	0	0	0	50	112				
CPSF2	53981	broad.mit.edu	37	14	92625450	92625450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:92625450G>T	ENST00000298875.4	+	14	2230	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	649					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|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)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGTTATTTTAGAAGAAGGAGA	0.413																																					Ovarian(78;28 1788 18702 44111)	uc001yah.1		NA																	0				ovary(2)	2						c.(1945-1947)GAA>TAA		cleavage and polyadenylation specific factor 2							101.0	98.0	99.0					14																	92625450		2203	4300	6503	SO:0001587	stop_gained	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92625450G>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1945G>T	14.37:g.92625450G>T	ENSP00000298875:p.Glu649*						p.E649*	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	14	2182	+		all_cancers(154;0.0766)	649					B3KME1|Q6NSJ1|Q9H3W7	Nonsense_Mutation	SNP	ENST00000298875.4	37	c.1945G>T	CCDS9902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.120720|5.120720	0.94385|0.94385	.|.	.|.	ENSG00000165934|ENSG00000165934	ENST00000298875|ENST00000555244	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.07644|.	T|.	0.81|.	.|.	18.9285|18.9285	0.92554|0.92554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	649|165	.|.	ENSP00000298875:E649X|.	E|X	+|+	1|3	0|2	CPSF2|CPSF2	91695203|91695203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	9.714000|9.714000	0.98744|0.98744	2.453000|2.453000	0.82957|0.82957	0.591000|0.591000	0.81541|0.81541	GAA|TAG		0.413	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			31	62	1	0	6.04e-23	9.69e-23	31	62				
RCOR1	23186	broad.mit.edu	37	14	103188673	103188673	+	Missense_Mutation	SNP	G	G	C	rs559582145		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:103188673G>C	ENST00000570597.1	+	11	1330	c.1330G>C	c.(1330-1332)Gaa>Caa	p.E444Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.E447Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	444					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACATGGTAAAGAAGAGACCAA	0.413																																						uc001ymb.2		NA																	0				ovary(1)	1						c.(1330-1332)GAA>CAA		REST corepressor 1							123.0	133.0	129.0					14																	103188673		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103188673G>C	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1330G>C	14.37:g.103188673G>C	ENSP00000459789:p.Glu444Gln						p.E444Q	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			11	1330	+			444					Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.1330G>C		.	.	.	.	.	.	.	.	.	.	G	14.28	2.489745	0.44249	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.74	5.74	0.90152	.	0.297965	0.31507	N	0.007530	T	0.28400	0.0702	N	0.24115	0.695	0.20926	N	0.999829	B	0.21606	0.058	B	0.22880	0.042	T	0.12967	-1.0527	9	0.13108	T	0.6	-13.8188	13.1692	0.59589	0.0726:0.0:0.9274:0.0	.	444	Q9UKL0	RCOR1_HUMAN	Q	444	.	ENSP00000262241:E444Q	E	+	1	0	RCOR1	102258426	1.000000	0.71417	0.905000	0.35620	0.998000	0.95712	2.836000	0.48183	2.715000	0.92844	0.655000	0.94253	GAA		0.413	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		21	277	0	0	0	0	21	277				
GJD2	57369	broad.mit.edu	37	15	35045073	35045073	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:35045073C>A	ENST00000290374.4	-	2	1048	c.572G>T	c.(571-573)aGg>aTg	p.R191M	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	191					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.R191K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCCTTCCTGCCTTCTGAGCTT	0.478																																						uc001zis.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(571-573)AGG>ATG		gap junction protein, delta 2, 36kDa							131.0	138.0	136.0					15																	35045073		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045073C>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.572G>T	15.37:g.35045073C>A	ENSP00000290374:p.Arg191Met					uc001zit.1_5'Flank	p.R191M	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	572	-		all_lung(180;9.67e-07)	191			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.572G>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194090	0.78902	.	.	ENSG00000159248	ENST00000290374	D	0.98221	-4.8	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.60286	0.872	D	0.98352	1.0544	10	0.54805	T	0.06	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	191	Q9UKL4	CXD2_HUMAN	M	191	ENSP00000290374:R191M	ENSP00000290374:R191M	R	-	2	0	GJD2	32832365	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	AGG		0.478	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			91	142	1	0	2.06e-34	3.43e-34	91	142				
BUB1B	701	broad.mit.edu	37	15	40462766	40462766	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:40462766C>T	ENST00000287598.6	+	4	463	c.268C>T	c.(268-270)Cct>Tct	p.P90S	BUB1B_ENST00000412359.3_Missense_Mutation_p.P104S|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	90	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCAGAACTATCCTCAAGGTGG	0.373			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3		NA	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(268-270)CCT>TCT		budding uninhibited by benzimidazoles 1 beta							105.0	100.0	101.0					15																	40462766		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40462766C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.268C>T	15.37:g.40462766C>T	ENSP00000287598:p.Pro90Ser						p.P90S	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	4	480	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	90			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.268C>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128407	0.94473	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.66815	-0.23;-0.23	5.29	5.29	0.74685	Mad3/BUB1 homology region 1 (3);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86135	0.1577	10	0.72032	D	0.01	-13.6192	18.9468	0.92625	0.0:1.0:0.0:0.0	.	90	O60566	BUB1B_HUMAN	S	90;104;90	ENSP00000287598:P90S;ENSP00000398470:P104S	ENSP00000287598:P90S	P	+	1	0	BUB1B	38250058	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.296000	0.78790	2.455000	0.83008	0.655000	0.94253	CCT		0.373	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			10	104	0	0	0	0	10	104				
GANC	2595	broad.mit.edu	37	15	42632035	42632035	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:42632035G>T	ENST00000318010.8	+	17	2252	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	671					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GAAGCCATCAGAGAGCGCTAT	0.542																																						uc001zpi.2		NA																	0				central_nervous_system(2)	2						c.(2011-2013)AGA>ATA		glucosidase, alpha; neutral C							64.0	49.0	54.0					15																	42632035		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42632035G>T	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2012G>T	15.37:g.42632035G>T	ENSP00000326227:p.Arg671Ile						p.R671I	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2326	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	671					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2012G>T	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098640	0.76870	.	.	ENSG00000214013	ENST00000318010	D	0.91843	-2.92	6.02	2.71	0.32032	Glycoside hydrolase, superfamily (1);	0.391272	0.31636	N	0.007319	D	0.91372	0.7278	M	0.83692	2.655	0.58432	D	0.999994	B	0.28178	0.202	B	0.32022	0.139	D	0.88501	0.3082	10	0.41790	T	0.15	-8.9477	10.0655	0.42301	0.3434:0.0:0.6566:0.0	.	671	Q8TET4	GANC_HUMAN	I	671	ENSP00000326227:R671I	ENSP00000326227:R671I	R	+	2	0	GANC	40419327	0.368000	0.25031	0.853000	0.33588	0.960000	0.62799	0.997000	0.29731	0.881000	0.35993	0.650000	0.86243	AGA		0.542	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		40	75	1	0	7.53e-24	1.22e-23	40	75				
SLC12A1	6557	broad.mit.edu	37	15	48577394	48577394	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:48577394C>T	ENST00000558405.1	+	20	2591	c.2577C>T	c.(2575-2577)ggC>ggT	p.G859G	SLC12A1_ENST00000396577.3_Silent_p.G859G|SLC12A1_ENST00000380993.3_Silent_p.G859G			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	859					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCATCCGAGGCTTGTTTAAAA	0.363																																						uc001zwn.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2575-2577)GGC>GGT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						120.0	128.0	125.0					15																	48577394		2198	4297	6495	SO:0001819	synonymous_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48577394C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2577C>T	15.37:g.48577394C>T						SLC12A1_uc010uew.1_Silent_p.G665G|SLC12A1_uc001zwq.3_Silent_p.G630G|SLC12A1_uc001zwr.3_Silent_p.G586G	p.G859G	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	21	2793	+		all_lung(180;0.00219)	859			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	c.2577C>T	CCDS10129.2																																																																																				0.363	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			66	131	0	0	0	0	66	131				
FBN1	2200	broad.mit.edu	37	15	48730063	48730063	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:48730063G>A	ENST00000316623.5	-	51	6670	c.6215C>T	c.(6214-6216)tCa>tTa	p.S2072L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2072	TB 8.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGATTTGGGTGATGAACACTT	0.502																																						uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(6214-6216)TCA>TTA		fibrillin 1 precursor							161.0	143.0	149.0					15																	48730063		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48730063G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6215C>T	15.37:g.48730063G>A	ENSP00000325527:p.Ser2072Leu					FBN1_uc010beo.1_RNA	p.S2072L	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	51	6543	-		all_lung(180;0.00279)	2072			TB 8.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6215C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556969	0.27827	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.92595	-3.07	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.571731	0.19039	N	0.124338	D	0.84092	0.5396	N	0.20986	0.625	0.35859	D	0.827332	B	0.09022	0.002	B	0.12156	0.007	T	0.78160	-0.2312	10	0.09590	T	0.72	.	10.984	0.47513	0.1128:0.0:0.8872:0.0	.	2072	P35555	FBN1_HUMAN	L	2072;640;962	ENSP00000325527:S2072L	ENSP00000325527:S2072L	S	-	2	0	FBN1	46517355	0.996000	0.38824	0.398000	0.26321	0.947000	0.59692	5.195000	0.65131	2.941000	0.99782	0.655000	0.94253	TCA		0.502	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			14	167	0	0	0	0	14	167				
USP8	9101	broad.mit.edu	37	15	50773685	50773685	+	Missense_Mutation	SNP	G	G	T	rs114434131		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:50773685G>T	ENST00000396444.3	+	11	1564	c.1226G>T	c.(1225-1227)cGt>cTt	p.R409L	USP8_ENST00000425032.3_Missense_Mutation_p.R332L|USP8_ENST00000433963.1_Missense_Mutation_p.R409L|USP8_ENST00000307179.4_Missense_Mutation_p.R409L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	409					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TAGATTGATCGTACTAAAAAA	0.358																																						uc001zym.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(1225-1227)CGT>CTT		ubiquitin specific peptidase 8							42.0	40.0	41.0					15																	50773685		2195	4294	6489	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50773685G>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1226G>T	15.37:g.50773685G>T	ENSP00000379721:p.Arg409Leu					USP8_uc001zyk.1_Missense_Mutation_p.R110L|USP8_uc001zyl.3_Missense_Mutation_p.R409L|USP8_uc001zyn.3_Missense_Mutation_p.R409L|USP8_uc010ufh.1_Missense_Mutation_p.R332L|USP8_uc010bev.1_Missense_Mutation_p.R38L	p.R409L	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	12	1726	+			409			SH3-binding (By similarity).		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1226G>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468093	0.84533	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.06	5.06	0.68205	.	0.405068	0.26669	N	0.023112	T	0.58581	0.2132	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.993;0.993;0.998	T	0.53351	-0.8451	10	0.25106	T	0.35	-11.95	18.4336	0.90636	0.0:0.0:1.0:0.0	.	332;409;409	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	L	409;409;409;332	ENSP00000379721:R409L;ENSP00000405537:R409L;ENSP00000302239:R409L;ENSP00000412682:R332L	ENSP00000302239:R409L	R	+	2	0	USP8	48560977	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.792000	0.85828	2.340000	0.79590	0.460000	0.39030	CGT		0.358	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		15	25	1	0	1.52e-12	2.26e-12	15	25				
TRPM7	54822	broad.mit.edu	37	15	50902065	50902065	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:50902065G>A	ENST00000313478.7	-	18	2655	c.2374C>T	c.(2374-2376)Cat>Tat	p.H792Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H792Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	792					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTCATCTGATGAGCATCTTGA	0.358																																						uc001zyt.3		NA																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(2374-2376)CAT>TAT		transient receptor potential cation channel,							172.0	152.0	158.0					15																	50902065		1866	4100	5966	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50902065G>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2374C>T	15.37:g.50902065G>A	ENSP00000320239:p.His792Tyr					TRPM7_uc010bew.1_Missense_Mutation_p.H792Y|TRPM7_uc001zyu.2_Missense_Mutation_p.H350Y	p.H792Y	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	18	2638	-			792			Extracellular (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.2374C>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843188	0.51057	.	.	ENSG00000092439	ENST00000313478	D	0.82619	-1.63	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	M	0.67397	2.05	0.54753	D	0.999982	B	0.14805	0.011	B	0.08055	0.003	T	0.78038	-0.2360	10	0.44086	T	0.13	-21.0882	19.7125	0.96102	0.0:0.0:1.0:0.0	.	792	Q96QT4	TRPM7_HUMAN	Y	792	ENSP00000320239:H792Y	ENSP00000320239:H792Y	H	-	1	0	TRPM7	48689357	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.676000	0.91093	0.460000	0.39030	CAT		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		35	88	0	0	0	0	35	88				
PRTG	283659	broad.mit.edu	37	15	55929374	55929374	+	Missense_Mutation	SNP	G	G	T	rs372543315		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:55929374G>T	ENST00000389286.4	-	15	2664	c.2617C>A	c.(2617-2619)Cgt>Agt	p.R873S		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTACCTTCACGGTGTAAGACC	0.393																																						uc002adg.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2617-2619)CGT>AGT		protogenin precursor							95.0	92.0	93.0					15																	55929374		1836	4072	5908	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55929374G>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2617C>A	15.37:g.55929374G>T	ENSP00000373937:p.Arg873Ser						p.R873S	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	15	2665	-			873			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000389286.4	37	c.2617C>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891939	0.72524	.	.	ENSG00000166450	ENST00000389286	T	0.57107	0.42	5.72	5.72	0.89469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.158118	0.39475	N	0.001360	T	0.55625	0.1932	L	0.47716	1.5	0.80722	D	1	D	0.60160	0.987	P	0.56788	0.806	T	0.47959	-0.9076	10	0.09084	T	0.74	-9.8938	12.4697	0.55779	0.0:0.0:0.7367:0.2633	.	873	Q2VWP7	PRTG_HUMAN	S	873	ENSP00000373937:R873S	ENSP00000373937:R873S	R	-	1	0	PRTG	53716666	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	2.882000	0.48546	2.685000	0.91497	0.655000	0.94253	CGT		0.393	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		53	109	1	0	5.14e-22	8.21e-22	53	109				
FAM63B	54629	broad.mit.edu	37	15	59146757	59146757	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:59146757G>C	ENST00000559228.1	+	9	1896	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	FAM63B_ENST00000450403.2_Missense_Mutation_p.R604P|RP11-30K9.5_ENST00000558042.1_RNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	605										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGGAACCACGAGAAAAAGAT	0.383																																						uc002afj.2		NA																	0				central_nervous_system(1)	1						c.(1813-1815)CGA>CCA		hypothetical protein LOC54629 isoform a							54.0	51.0	52.0					15																	59146757		1830	4093	5923	SO:0001583	missense	54629							g.chr15:59146757G>C	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1814G>C	15.37:g.59146757G>C	ENSP00000452885:p.Arg605Pro					FAM63B_uc002afi.2_Missense_Mutation_p.R604P|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	p.R605P	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN			9	2016	+			605					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1814G>C	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683449	0.68157	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.50277	0.75	5.96	5.05	0.67936	.	0.410133	0.18145	U	0.150264	T	0.56031	0.1958	L	0.27053	0.805	0.50039	D	0.999842	D;D	0.89917	0.999;1.0	D;D	0.71656	0.942;0.974	T	0.59182	-0.7502	10	0.66056	D	0.02	0.394	14.4759	0.67546	0.0702:0.0:0.9298:0.0	.	605;604	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	P	605;604	ENSP00000393231:R604P	ENSP00000326194:R605P	R	+	2	0	FAM63B	56934049	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.769000	0.62300	1.532000	0.49169	0.650000	0.86243	CGA		0.383	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		12	67	0	0	0	0	12	67				
GTF2A2	2958	broad.mit.edu	37	15	59934436	59934436	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:59934436C>A	ENST00000396060.2	-	4	384	c.203G>T	c.(202-204)tGc>tTc	p.C68F	GTF2A2_ENST00000396063.1_Missense_Mutation_p.C68F|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000484743.1_Missense_Mutation_p.C33F|GTF2A2_ENST00000396064.3_Intron|GTF2A2_ENST00000267869.4_5'UTR|GTF2A2_ENST00000396061.1_Missense_Mutation_p.C68F	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	68					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						CACATTATCGCAGAATCTGTA	0.343																																						uc002agg.2		NA																	0				central_nervous_system(2)	2						c.(202-204)TGC>TTC		general transcription factor IIA, 2, 12kDa							131.0	127.0	129.0					15																	59934436		2190	4290	6480	SO:0001583	missense	2958				interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr15:59934436C>A	BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"""General transcription factors"""	4647	protein-coding gene	gene with protein product		600519	"""general transcription factor IIA, 2 (12kD subunit)"""			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.203G>T	15.37:g.59934436C>A	ENSP00000379372:p.Cys68Phe						p.C68F	NM_004492	NP_004483	P52657	T2AG_HUMAN			4	385	-			68					A8MYQ7|Q6FGB5	Missense_Mutation	SNP	ENST00000396060.2	37	c.203G>T	CCDS10173.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563828	0.86335	.	.	ENSG00000140307	ENST00000396060;ENST00000396063;ENST00000396061;ENST00000484743	.	.	.	5.48	5.48	0.80851	Transcription initiation factor IIA, gamma subunit, C-terminal (1);Transcription factor IIA, beta-barrel (2);	0.000000	0.85682	D	0.000000	D	0.86952	0.6057	H	0.94306	3.52	0.80722	D	1	D	0.60160	0.987	D	0.66351	0.943	D	0.90048	0.4147	9	0.87932	D	0	-31.6897	19.717	0.96124	0.0:1.0:0.0:0.0	.	68	P52657	T2AG_HUMAN	F	68;68;68;33	.	ENSP00000379372:C68F	C	-	2	0	GTF2A2	57721728	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.453000	0.80700	2.745000	0.94114	0.484000	0.47621	TGC		0.343	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256067.2	NM_004492		37	104	1	0	3.76e-14	5.66e-14	37	104				
MAP2K1	5604	broad.mit.edu	37	15	66777514	66777514	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:66777514G>A	ENST00000307102.5	+	7	1411	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	MAP2K1_ENST00000566326.1_Missense_Mutation_p.G118R	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	294	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RAF1-binding. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	AAGGACCCCCGGGAGGCCCCT	0.607																																						uc010bhq.2		NA																	0					0						c.(880-882)GGG>AGG		mitogen-activated protein kinase kinase 1							31.0	34.0	33.0					15																	66777514		2201	4299	6500	SO:0001583	missense	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66777514G>A	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.880G>A	15.37:g.66777514G>A	ENSP00000302486:p.Gly294Arg					MAP2K1_uc010ujp.1_Missense_Mutation_p.G272R	p.G294R	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			7	1355	+			294			Protein kinase.|Pro-rich.			Missense_Mutation	SNP	ENST00000307102.5	37	c.880G>A	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364796	0.61513	.	.	ENSG00000169032	ENST00000307102	D	0.93189	-3.18	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	L	0.39514	1.22	0.80722	D	1	B;P	0.37061	0.057;0.58	B;B	0.37888	0.086;0.26	D	0.88428	0.3033	10	0.20519	T	0.43	-26.6322	18.2547	0.90015	0.0:0.0:1.0:0.0	.	272;294	B4DFY5;Q02750	.;MP2K1_HUMAN	R	294	ENSP00000302486:G294R	ENSP00000302486:G294R	G	+	1	0	MAP2K1	64564568	1.000000	0.71417	0.933000	0.37362	0.669000	0.39330	9.751000	0.98889	2.545000	0.85829	0.467000	0.42956	GGG		0.607	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			21	79	0	0	0	0	21	79				
RASGRF1	5923	broad.mit.edu	37	15	79292109	79292109	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:79292109G>T	ENST00000419573.3	-	18	3044	c.2770C>A	c.(2770-2772)Cgg>Agg	p.R924R	RASGRF1_ENST00000558480.2_Silent_p.R908R|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.R140R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	924					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACATCCTCCGGTACTTCTCC	0.607																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2770-2772)CGG>AGG		Ras protein-specific guanine							168.0	112.0	131.0					15																	79292109		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79292109G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2770C>A	15.37:g.79292109G>T						RASGRF1_uc002bep.2_Silent_p.R908R|RASGRF1_uc010blm.1_Silent_p.R833R|RASGRF1_uc002ber.3_Silent_p.R908R|RASGRF1_uc010unh.1_Silent_p.R319R|RASGRF1_uc002beo.2_Silent_p.R140R	p.R924R	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			18	3145	-			926					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2770C>A	CCDS10309.1																																																																																				0.607	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		38	120	1	0	9.89e-21	1.56e-20	38	120				
EFTUD1	79631	broad.mit.edu	37	15	82523196	82523196	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:82523196C>A	ENST00000268206.7	-	8	1016	c.848G>T	c.(847-849)gGt>gTt	p.G283V	EFTUD1_ENST00000359445.3_Missense_Mutation_p.G232V|EFTUD1_ENST00000561331.1_5'UTR	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	283					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.G283D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TACCTGATCACCCTTCATGAT	0.323																																						uc002bgt.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(847-849)GGT>GTT		elongation factor Tu GTP binding domain							141.0	136.0	138.0					15																	82523196		1830	4086	5916	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82523196C>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.848G>T	15.37:g.82523196C>A	ENSP00000268206:p.Gly283Val					EFTUD1_uc002bgu.1_Missense_Mutation_p.G232V	p.G283V	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			8	1017	-			283					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.848G>T	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768237	0.31320	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.77098	-1.07;-1.07	5.36	-4.28	0.03732	.	0.696409	0.11763	N	0.531909	T	0.75302	0.3831	M	0.78916	2.43	0.80722	D	1	B;B	0.16166	0.016;0.0	B;B	0.31686	0.134;0.008	T	0.63875	-0.6538	10	0.32370	T	0.25	-3.2704	10.5283	0.44963	0.1573:0.4846:0.3581:0.0	.	232;283	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	V	283;232	ENSP00000268206:G283V;ENSP00000352418:G232V	ENSP00000268206:G283V	G	-	2	0	EFTUD1	80310251	0.647000	0.27304	0.065000	0.19835	0.985000	0.73830	1.420000	0.34804	-0.383000	0.07858	-0.262000	0.10625	GGT		0.323	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		8	135	1	0	0.00307968	0.00407266	8	135				
MRPS11	64963	broad.mit.edu	37	15	89015921	89015921	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89015921G>A	ENST00000325844.4	+	3	511	c.246G>A	c.(244-246)gaG>gaA	p.E82E	MRPS11_ENST00000557974.1_Intron|MRPS11_ENST00000353598.6_Intron	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	82					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AATTTGAGGAGATCCCAATTG	0.443																																						uc002bml.2		NA																	0					0						c.(244-246)GAG>GAA		mitochondrial ribosomal protein S11 isoform a							60.0	59.0	59.0					15																	89015921		2201	4299	6500	SO:0001819	synonymous_variant	64963				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr15:89015921G>A	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"""Mitochondrial ribosomal proteins / small subunits"""	14050	protein-coding gene	gene with protein product	"""cervical cancer proto-oncogene 2"""	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.246G>A	15.37:g.89015921G>A						MRPS11_uc002bmm.2_Intron|MRPS11_uc002bmn.2_Silent_p.E81E|MRPS11_uc010bnj.2_RNA	p.E82E	NM_022839	NP_073750	P82912	RT11_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	511	+	Lung NSC(78;0.203)		82					B2RD52|Q969D7|Q96GI3|Q9BYC3	Silent	SNP	ENST00000325844.4	37	c.246G>A	CCDS10342.1																																																																																				0.443	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839		4	56	0	0	0	0	4	56				
MFGE8	4240	broad.mit.edu	37	15	89453073	89453073	+	Missense_Mutation	SNP	G	G	A	rs145851768		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89453073G>A	ENST00000566497.1	-	2	216	c.155C>T	c.(154-156)tCg>tTg	p.S52L	MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268150.8_Missense_Mutation_p.S52L|MFGE8_ENST00000539437.1_Missense_Mutation_p.S44L|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.S52L			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	52	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCAGGTGTACGAGGGGAAGAC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		22724	0.0		0.001	False		,,,				2504	0.0					uc002bng.3		NA																	0				ovary(1)	1						c.(154-156)TCG>TTG		milk fat globule-EGF factor 8 protein isoform a		G	LEU/SER,LEU/SER	0,4400		0,0,2200	182.0	145.0	158.0		155,155	0.2	0.0	15	dbSNP_134	158	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	MFGE8	NM_001114614.1,NM_005928.2	145,145	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	52/336,52/388	89453073	1,12997	2200	4299	6499	SO:0001583	missense	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89453073G>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.155C>T	15.37:g.89453073G>A	ENSP00000456281:p.Ser52Leu					MFGE8_uc002bnf.3_5'UTR|MFGE8_uc002bnh.3_Missense_Mutation_p.S52L|MFGE8_uc010bnn.2_Missense_Mutation_p.S44L|MFGE8_uc010upq.1_Intron|MFGE8_uc010upr.1_Missense_Mutation_p.S52L|MFGE8_uc010bno.2_Intron	p.S52L	NM_005928	NP_005919	Q08431	MFGM_HUMAN			2	268	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		52			EGF-like.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	c.155C>T	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395560	0.42512	0.0	1.16E-4	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437	D;D;D	0.92595	-3.07;-3.07;-3.07	5.39	0.157	0.14915	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.557740	0.21566	N	0.072485	D	0.85750	0.5769	L	0.48935	1.535	0.09310	N	1	P;P;P;P	0.47545	0.856;0.897;0.604;0.676	B;B;B;B	0.34991	0.193;0.184;0.08;0.12	T	0.76002	-0.3118	10	0.30854	T	0.27	-2.419	14.3337	0.66574	0.0:0.0:0.5501:0.4499	.	44;44;52;52	B3KTQ2;F5H7N9;Q08431-3;Q08431	.;.;.;MFGM_HUMAN	L	52;52;44	ENSP00000268150:S52L;ENSP00000268151:S52L;ENSP00000442386:S44L	ENSP00000268150:S52L	S	-	2	0	MFGE8	87254077	0.330000	0.24705	0.000000	0.03702	0.002000	0.02628	2.525000	0.45598	-0.145000	0.11294	0.561000	0.74099	TCG		0.542	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		38	225	0	0	0	0	38	225				
FANCI	55215	broad.mit.edu	37	15	89837176	89837176	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89837176G>A	ENST00000310775.7	+	23	2490	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	FANCI_ENST00000300027.8_Missense_Mutation_p.D802N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	802					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAGACAAGTGATAGTCTTTT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NA																	0				ovary(2)	2						c.(2404-2406)GAT>AAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							140.0	127.0	132.0					15																	89837176		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89837176G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2404G>A	15.37:g.89837176G>A	ENSP00000310842:p.Asp802Asn					FANCI_uc002bnm.1_Missense_Mutation_p.D802N|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.D623N|FANCI_uc002bnq.1_Missense_Mutation_p.D215N	p.D802N	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			23	2494	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		802					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.2404G>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	7.672	0.687092	0.14973	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.68903	-0.35;-0.36;0.37	5.72	4.78	0.61160	.	0.215995	0.47455	D	0.000234	T	0.51466	0.1676	L	0.44542	1.39	0.80722	D	1	P;P;P	0.38195	0.481;0.622;0.622	B;B;B	0.35510	0.137;0.204;0.204	T	0.44190	-0.9344	10	0.15952	T	0.53	-7.132	8.002	0.30301	0.0944:0.2829:0.6227:0.0	.	802;802;802	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	N	802	ENSP00000300027:D802N;ENSP00000310842:D802N;ENSP00000413249:D802N	ENSP00000300027:D802N	D	+	1	0	FANCI	87638180	1.000000	0.71417	0.329000	0.25429	0.563000	0.35712	4.039000	0.57325	2.711000	0.92665	0.655000	0.94253	GAT		0.398	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		27	139	0	0	0	0	27	139				
POLG	5428	broad.mit.edu	37	15	89862533	89862533	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89862533G>A	ENST00000268124.5	-	19	3363	c.3030C>T	c.(3028-3030)ctC>ctT	p.L1010L	POLG_ENST00000442287.2_Silent_p.L1010L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1010					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGTCCACTGGGAGGTTCAACT	0.557								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NA																	0				ovary(1)|lung(1)	2						c.(3028-3030)CTC>CTT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							73.0	57.0	62.0					15																	89862533		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89862533G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3030C>T	15.37:g.89862533G>A						POLG_uc002bnr.3_Silent_p.L1010L	p.L1010L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		19	3312	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1010					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.3030C>T	CCDS10350.1																																																																																				0.557	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		4	73	0	0	0	0	4	73				
FES	2242	broad.mit.edu	37	15	91436009	91436009	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:91436009G>C	ENST00000328850.3	+	14	1922	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	FES_ENST00000394300.3_Missense_Mutation_p.E536Q|FES_ENST00000414248.2_Missense_Mutation_p.E466Q|FES_ENST00000444422.2_Missense_Mutation_p.E524Q|FES_ENST00000394302.1_Missense_Mutation_p.E466Q|FES_ENST00000450438.2_Missense_Mutation_p.E466Q	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTCTTGTCGAGAGACGCTCCC	0.572																																						uc002bpv.2		NA																	0				lung(2)	2						c.(1780-1782)GAG>CAG		feline sarcoma oncogene isoform 1							86.0	77.0	80.0					15																	91436009		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91436009G>C	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1780G>C	15.37:g.91436009G>C	ENSP00000331504:p.Glu594Gln					FES_uc010uqj.1_Missense_Mutation_p.E466Q|FES_uc010uqk.1_Missense_Mutation_p.E576Q|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.E466Q|FES_uc002bpx.2_Missense_Mutation_p.E524Q|FES_uc002bpy.2_Missense_Mutation_p.E536Q	p.E594Q	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		14	1876	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		594			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1780G>C	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564838	0.65651	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.137294	0.64402	D	0.000004	D	0.85186	0.5639	N	0.25957	0.775	0.58432	D	0.999996	D;P;D;D;P;D	0.76494	0.999;0.461;0.997;0.976;0.461;0.997	D;B;P;P;B;P	0.64042	0.921;0.276;0.854;0.626;0.276;0.825	D	0.84217	0.0459	10	0.37606	T	0.19	-48.0434	18.8273	0.92123	0.0:0.0:1.0:0.0	.	576;466;466;536;524;594	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	Q	594;466;466;524;536;466	ENSP00000331504:E594Q;ENSP00000414629:E466Q;ENSP00000377839:E466Q;ENSP00000400868:E524Q;ENSP00000377837:E536Q;ENSP00000409915:E466Q	ENSP00000331504:E594Q	E	+	1	0	FES	89237013	1.000000	0.71417	0.993000	0.49108	0.902000	0.53008	6.435000	0.73412	2.774000	0.95407	0.485000	0.47835	GAG		0.572	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		8	125	0	0	0	0	8	125				
MCTP2	55784	broad.mit.edu	37	15	94928705	94928705	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:94928705G>T	ENST00000357742.4	+	13	1739	c.1739G>T	c.(1738-1740)gGa>gTa	p.G580V	MCTP2_ENST00000557742.1_Missense_Mutation_p.G168V|MCTP2_ENST00000331706.4_Missense_Mutation_p.G168V|MCTP2_ENST00000451018.3_Missense_Mutation_p.G580V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	580	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATGAAGATGGAGATAAACCC	0.338																																						uc002btj.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1738-1740)GGA>GTA		multiple C2 domains, transmembrane 2 isoform 1							239.0	233.0	235.0					15																	94928705		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94928705G>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1739G>T	15.37:g.94928705G>T	ENSP00000350377:p.Gly580Val					MCTP2_uc002bti.2_Missense_Mutation_p.G580V|MCTP2_uc010boj.2_Missense_Mutation_p.G309V|MCTP2_uc010bok.2_Missense_Mutation_p.G580V|MCTP2_uc002btk.3_Missense_Mutation_p.G168V|MCTP2_uc002btl.2_Missense_Mutation_p.G168V	p.G580V	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		13	1804	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		580			C2 3.		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1739G>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290162	0.80914	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.67698	-0.28;-0.28;-0.28	5.42	5.42	0.78866	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	N	0.13272	0.32	0.80722	D	1	P;D;D	0.89917	0.562;1.0;1.0	P;D;D	0.97110	0.548;1.0;1.0	T	0.75025	-0.3463	10	0.52906	T	0.07	.	19.5829	0.95475	0.0:0.0:1.0:0.0	.	580;168;580	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	V	580;168;580	ENSP00000395109:G580V;ENSP00000329646:G168V;ENSP00000350377:G580V	ENSP00000329646:G168V	G	+	2	0	MCTP2	92729709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.703000	0.92315	0.650000	0.86243	GGA		0.338	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		74	263	1	0	7.09e-46	1.2e-45	74	263				
HBM	3042	broad.mit.edu	37	16	216015	216015	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:216015C>A	ENST00000356815.3	+	1	39	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	HBM_ENST00000472539.1_Intron	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN	hemoglobin, mu	7						extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CGCCCAGGAGCGCGCCCAAAT	0.721																																						uc002cfu.1		NA																	0					0						c.(19-21)CGC>AGC		hemoglobin mu chain							8.0	10.0	9.0					16																	216015		2169	4258	6427	SO:0001583	missense	3042					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:216015C>A	BC035682	CCDS32347.1	16p13.3	2014-05-19	2006-05-12	2006-05-12	ENSG00000206177	ENSG00000206177			4826	protein-coding gene	gene with protein product		609639	"""hemoglobin, alpha pseudogene 2"""	HBAP2		2649166, 2825132, 15855277	Standard	NM_001003938		Approved	HBK	uc002cfu.1	Q6B0K9	OTTHUMG00000059926	ENST00000356815.3:c.19C>A	16.37:g.216015C>A	ENSP00000349270:p.Arg7Ser						p.R7S	NM_001003938	NP_001003938	Q6B0K9	HBM_HUMAN			1	43	+		all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	7						Missense_Mutation	SNP	ENST00000356815.3	37	c.19C>A	CCDS32347.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582610	0.28180	.	.	ENSG00000206177	ENST00000356815	D	0.93763	-3.28	2.62	1.28	0.21552	Globin-like (1);Globin, structural domain (1);	0.106801	0.35805	U	0.002976	D	0.87807	0.6270	L	0.53671	1.685	0.09310	N	1	P	0.49090	0.919	B	0.40477	0.33	T	0.81707	-0.0810	10	0.87932	D	0	.	2.3166	0.04200	0.2945:0.4608:0.0:0.2447	.	7	Q6B0K9	HBM_HUMAN	S	7	ENSP00000349270:R7S	ENSP00000349270:R7S	R	+	1	0	HBM	156015	0.000000	0.05858	0.772000	0.31596	0.057000	0.15508	0.121000	0.15667	0.406000	0.25560	0.484000	0.47621	CGC		0.721	HBM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133201.1	NM_001003938		9	21	1	0	0.000442599	0.000594192	9	21				
ACSM5	54988	broad.mit.edu	37	16	20439173	20439173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20439173C>T	ENST00000331849.4	+	7	1132	c.985C>T	c.(985-987)Cag>Tag	p.Q329*		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	329					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGCTTGTGCAGGAGGATCT	0.463																																						uc002dhe.2		NA																	0				ovary(2)	2						c.(985-987)CAG>TAG		acyl-CoA synthetase medium-chain family member 5							208.0	184.0	192.0					16																	20439173		2203	4300	6503	SO:0001587	stop_gained	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20439173C>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.985C>T	16.37:g.20439173C>T	ENSP00000327916:p.Gln329*						p.Q329*	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			7	1132	+			329					Q96AV1|Q96CX8|Q9NWV3	Nonsense_Mutation	SNP	ENST00000331849.4	37	c.985C>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	38	6.890873	0.97912	.	.	ENSG00000183549	ENST00000331849	.	.	.	5.01	4.05	0.47172	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-11.265	13.0341	0.58860	0.1616:0.8384:0.0:0.0	.	.	.	.	X	329	.	ENSP00000327916:Q329X	Q	+	1	0	ACSM5	20346674	0.995000	0.38212	0.975000	0.42487	0.994000	0.84299	3.957000	0.56730	1.192000	0.43071	0.555000	0.69702	CAG		0.463	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		6	231	0	0	0	0	6	231				
ACSM2A	123876	broad.mit.edu	37	16	20476886	20476886	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20476886G>A	ENST00000573854.1	+	3	339	c.225G>A	c.(223-225)aaG>aaA	p.K75K	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000424070.1_Silent_p.K75K|ACSM2A_ENST00000219054.6_Silent_p.K75K|ACSM2A_ENST00000575690.1_Silent_p.K75K|ACSM2A_ENST00000396104.2_Silent_p.K75K|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	75					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGAATGGGAAGGGGAAGGAAT	0.572																																						uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(223-225)AAG>AAA		acyl-CoA synthetase medium-chain family member							55.0	54.0	55.0					16																	20476886		2203	4297	6500	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476886G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.225G>A	16.37:g.20476886G>A						ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_5'UTR|ACSM2A_uc002dhf.3_Silent_p.K75K|ACSM2A_uc002dhg.3_Silent_p.K75K|ACSM2A_uc010vay.1_5'UTR	p.K75K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			4	464	+			75					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.225G>A	CCDS32401.1																																																																																				0.572	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		6	72	0	0	0	0	6	72				
ACSM2B	348158	broad.mit.edu	37	16	20570722	20570722	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20570722C>T	ENST00000329697.6	-	3	393	c.225G>A	c.(223-225)aaG>aaA	p.K75K	ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000414188.2_Silent_p.K75K|ACSM2B_ENST00000567001.1_Silent_p.K75K|ACSM2B_ENST00000565232.1_Silent_p.K75K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	75					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATTCCTTCCCCTTCCCATTCA	0.557																																						uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(223-225)AAG>AAA		acyl-CoA synthetase medium-chain family member							44.0	40.0	41.0					16																	20570722		2201	4297	6498	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570722C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.225G>A	16.37:g.20570722C>T						ACSM2B_uc002dhk.3_Silent_p.K75K|ACSM2B_uc010bwf.1_Silent_p.K75K	p.K75K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			4	435	-			75					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.225G>A	CCDS10586.1																																																																																				0.557	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		18	31	0	0	0	0	18	31				
ZP2	7783	broad.mit.edu	37	16	21215680	21215680	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:21215680T>C	ENST00000574002.1	-	9	1221	c.739A>G	c.(739-741)Ata>Gta	p.I247V	ZP2_ENST00000574091.1_Missense_Mutation_p.I247V|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.I247V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	247					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCAGGAGATATAAATGTAAGC	0.428																																						uc002dii.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(739-741)ATA>GTA		zona pellucida glycoprotein 2 preproprotein							109.0	106.0	107.0					16																	21215680		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21215680T>C	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.739A>G	16.37:g.21215680T>C	ENSP00000460971:p.Ile247Val					ZP2_uc010bwn.1_Missense_Mutation_p.I286V|ZP2_uc010bwo.2_Missense_Mutation_p.I286V	p.I247V	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	8	739	-			247			Extracellular (Potential).		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.739A>G	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	T	1.260	-0.616077	0.03663	.	.	ENSG00000103310	ENST00000219593	T	0.20738	2.05	5.76	1.38	0.22167	.	1.624150	0.03373	N	0.199293	T	0.08044	0.0201	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26573	-1.0099	10	0.20046	T	0.44	0.422	5.0448	0.14477	0.2909:0.5518:0.0:0.1572	.	247;247;247	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	V	247	ENSP00000219593:I247V	ENSP00000219593:I247V	I	-	1	0	ZP2	21123181	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	0.268000	0.18571	0.026000	0.15269	-0.242000	0.12053	ATA		0.428	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			32	40	0	0	0	0	32	40				
ARHGAP17	55114	broad.mit.edu	37	16	24958893	24958893	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:24958893T>C	ENST00000289968.6	-	14	1220	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.K384R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	384	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGAGCAAGCTTTGCAAGGAA	0.463																																						uc002dnb.2		NA																	0					0						c.(1150-1152)AAG>AGG		nadrin isoform 1							120.0	107.0	112.0					16																	24958893		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24958893T>C	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1151A>G	16.37:g.24958893T>C	ENSP00000289968:p.Lys384Arg					ARHGAP17_uc002dna.2_Missense_Mutation_p.K111R|ARHGAP17_uc002dnc.2_Missense_Mutation_p.K384R|ARHGAP17_uc010vcf.1_Missense_Mutation_p.K205R	p.K384R	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	14	1244	-			384			Rho-GAP.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1151A>G	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699524	0.68501	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.17691	2.26;2.26	6.06	4.95	0.65309	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.46758	D	0.000277	T	0.22437	0.0541	N	0.17764	0.52	0.80722	D	1	B;D	0.89917	0.028;1.0	B;D	0.87578	0.016;0.998	T	0.08046	-1.0741	10	0.12766	T	0.61	.	10.6101	0.45417	0.0:0.0762:0.0:0.9238	.	384;384	Q68EM7-2;Q68EM7	.;RHG17_HUMAN	R	384	ENSP00000289968:K384R;ENSP00000303130:K384R	ENSP00000289968:K384R	K	-	2	0	ARHGAP17	24866394	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.828000	0.55753	1.078000	0.41014	0.528000	0.53228	AAG		0.463	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		3	71	0	0	0	0	3	71				
SEPHS2	22928	broad.mit.edu	37	16	30456514	30456514	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:30456514C>A	ENST00000478753.2	-	1	988	c.535G>T	c.(535-537)Gtc>Ttc	p.V179F	SEPHS2_ENST00000500504.2_Missense_Mutation_p.V179F|SEPHS2_ENST00000542752.1_Missense_Mutation_p.V122F			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	179					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CTCTGGCTGACGCTGAGTAAC	0.547																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	uc010ves.1		NA																	0				breast(2)	2						c.(535-537)GTC>TTC		selenophosphate synthetase 2							114.0	109.0	111.0					16																	30456514		2147	4241	6388	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456514C>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.535G>T	16.37:g.30456514C>A	ENSP00000418669:p.Val179Phe					SEPHS2_uc002dyh.1_Missense_Mutation_p.V122F|SEPHS2_uc010vet.1_Missense_Mutation_p.V61F	p.V179F	NM_012248	NP_036380	Q99611	SPS2_HUMAN			2	711	-			179					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.535G>T		.	.	.	.	.	.	.	.	.	.	C	19.22	3.785556	0.70337	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.31510	1.49;1.49;1.49	5.64	4.69	0.59074	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.061993	0.64402	D	0.000005	T	0.38506	0.1043	L	0.28274	0.84	0.80722	D	1	D;D	0.64830	0.987;0.994	D;D	0.68353	0.957;0.945	T	0.09378	-1.0677	10	0.25106	T	0.35	-31.6808	12.8079	0.57624	0.0:0.9203:0.0:0.0797	.	179;122	Q99611;F5H8F9	SPS2_HUMAN;.	F	179;122;130;179	ENSP00000418669:V179F;ENSP00000443601:V122F;ENSP00000426234:V179F	ENSP00000390233:V130F	V	-	1	0	SEPHS2	30364015	0.981000	0.34729	0.999000	0.59377	0.977000	0.68977	1.639000	0.37176	1.527000	0.49086	0.655000	0.94253	GTC		0.547	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		62	75	1	0	2.73e-28	4.45e-28	62	75				
ITGAL	3683	broad.mit.edu	37	16	30495265	30495265	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:30495265C>T	ENST00000356798.6	+	8	1020	c.840C>T	c.(838-840)atC>atT	p.I280I	RNU7-61P_ENST00000515897.1_RNA|ITGAL_ENST00000358164.5_Silent_p.I197I|ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	280	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	AAGACATCATCCGCTACATCA	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(838-840)ATC>ATT		integrin alpha L isoform a precursor	Efalizumab(DB00095)						183.0	159.0	167.0					16																	30495265		2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:30495265C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.840C>T	16.37:g.30495265C>T						ITGAL_uc010veu.1_RNA|ITGAL_uc002dyj.3_Silent_p.I197I|ITGAL_uc010vev.1_Intron	p.I280I	NM_002209	NP_002200	P20701	ITAL_HUMAN			8	1016	+			280			VWFA.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.840C>T	CCDS32433.1																																																																																				0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			5	249	0	0	0	0	5	249				
RNF40	9810	broad.mit.edu	37	16	30779633	30779633	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:30779633G>A	ENST00000324685.6	+	13	2196	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	RNF40_ENST00000563683.1_Silent_p.E547E|RNF40_ENST00000402121.3_Silent_p.E279E|RNF40_ENST00000357890.5_Silent_p.E487E	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	587					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCTCTGAAGAGGACTTCCAGG	0.622																																						uc002dzq.2		NA																	0				central_nervous_system(1)	1						c.(1759-1761)GAG>GAA		ring finger protein 40							30.0	32.0	31.0					16																	30779633		2197	4300	6497	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30779633G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1761G>A	16.37:g.30779633G>A						RNF40_uc010caa.2_Silent_p.E587E|RNF40_uc010cab.2_Silent_p.E487E|RNF40_uc010vfa.1_5'UTR|RNF40_uc002dzr.2_Silent_p.E587E|RNF40_uc010vfb.1_Silent_p.E279E|RNF40_uc010vfc.1_5'UTR	p.E587E	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		13	1884	+			587					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.1761G>A	CCDS10691.1																																																																																				0.622	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		15	28	0	0	0	0	15	28				
USB1	79650	broad.mit.edu	37	16	58043902	58043902	+	Missense_Mutation	SNP	G	G	A	rs142683238	byFrequency	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:58043902G>A	ENST00000563149.1	+	3	399	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	USB1_ENST00000423271.3_Missense_Mutation_p.R112Q|USB1_ENST00000539737.2_Missense_Mutation_p.R112Q|USB1_ENST00000219281.3_Missense_Mutation_p.R112Q|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Missense_Mutation_p.R61Q	NM_001204911.1	NP_001191840.1			U6 snRNA biogenesis 1																		TATGTCCCCCGGCTGGTAAGG	0.592																																						uc002emz.2		NA																	0					0						c.(334-336)CGG>CAG		hypothetical protein LOC79650		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	160.0	137.0	145.0		335,335,335	4.4	1.0	16	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	C16orf57	NM_001195302.1,NM_001204911.1,NM_024598.3	43,43,43	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	112/248,112/187,112/266	58043902	2,12994	2198	4300	6498	SO:0001583	missense	79650							g.chr16:58043902G>A	AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"""HVSL motif containing 1"", ""poikiloderma with neutropenia"", ""U six biogenesis 1"", ""mutated in poikiloderma with neutropenia protein 1"""	613276	"""chromosome 16 open reading frame 57"""	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000563149.1:c.335G>A	16.37:g.58043902G>A	ENSP00000454692:p.Arg112Gln					C16orf57_uc010via.1_Missense_Mutation_p.R112Q|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.R112Q|C16orf57_uc010vic.1_Missense_Mutation_p.R61Q	p.R112Q	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN			3	418	+			112						Missense_Mutation	SNP	ENST00000563149.1	37	c.335G>A		.	.	.	.	.	.	.	.	.	.	G	12.52	1.962825	0.34659	2.27E-4	1.16E-4	ENSG00000103005	ENST00000219281;ENST00000539737;ENST00000423271	T;T;T	0.54071	0.77;0.59;0.59	5.34	4.38	0.52667	.	0.477024	0.22550	N	0.058615	T	0.35856	0.0946	L	0.31926	0.97	0.09310	N	0.999999	D;P;P	0.58620	0.983;0.694;0.456	P;B;B	0.44921	0.464;0.183;0.102	T	0.22626	-1.0211	10	0.13853	T	0.58	-27.6803	3.9306	0.09283	0.0882:0.1736:0.5811:0.1571	.	112;112;112	B4DZW5;B4DWE3;Q9BQ65	.;.;CP057_HUMAN	Q	112	ENSP00000219281:R112Q;ENSP00000446143:R112Q;ENSP00000409792:R112Q	ENSP00000219281:R112Q	R	+	2	0	C16orf57	56601403	0.092000	0.21681	0.951000	0.38953	0.489000	0.33432	0.841000	0.27613	2.490000	0.84030	0.655000	0.94253	CGG		0.592	USB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000429953.1	NM_024598		9	260	0	0	0	0	9	260				
CA7	766	broad.mit.edu	37	16	66881111	66881111	+	Silent	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:66881111T>C	ENST00000338437.2	+	2	328	c.219T>C	c.(217-219)aaT>aaC	p.N73N	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000394069.3_Silent_p.N17N	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	73					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	TAGACTTCAATGACAGCGATG	0.582																																						uc002eqi.2		NA																	0					0						c.(217-219)AAT>AAC		carbonic anhydrase VII isoform 1							100.0	85.0	90.0					16																	66881111		2200	4300	6500	SO:0001819	synonymous_variant	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66881111T>C		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.219T>C	16.37:g.66881111T>C						uc002eqh.2_Intron|CA7_uc002eqj.2_Silent_p.N17N	p.N73N	NM_005182	NP_005173	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	328	+		Ovarian(137;0.0563)	73					Q541F0|Q86YU0	Silent	SNP	ENST00000338437.2	37	c.219T>C	CCDS10821.1																																																																																				0.582	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			23	46	0	0	0	0	23	46				
PARD6A	50855	broad.mit.edu	37	16	67694944	67694944	+	Start_Codon_SNP	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:67694944G>C	ENST00000219255.3	+	1	83	c.3G>C	c.(1-3)atG>atC	p.M1I	PARD6A_ENST00000602551.1_Start_Codon_SNP_p.M1I|PARD6A_ENST00000458121.2_Start_Codon_SNP_p.M1I|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	1	Interaction with PRKCI and PRKCZ.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		gccccgccATGGCCCGGCCGC	0.781																																						uc002ett.2		NA																	0				ovary(1)	1						c.(1-3)ATG>ATC		par-6 partitioning defective 6 homolog alpha							19.0	24.0	22.0					16																	67694944		2176	4288	6464	SO:0001582	initiator_codon_variant	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67694944G>C		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.3G>C	16.37:g.67694944G>C	ENSP00000219255:p.Met1Ile					ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.M1I|PARD6A_uc002etu.2_5'Flank	p.M1I	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	94	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1			Interaction with PRKCI and PRKCZ.		O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	c.3G>C	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454360	0.63290	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.36878	1.23;1.23	4.72	3.73	0.42828	.	0.000000	0.64402	D	0.000001	T	0.39733	0.1089	.	.	.	0.80722	D	1	P;P	0.52316	0.92;0.952	B;P	0.47402	0.344;0.546	T	0.28490	-1.0042	9	0.54805	T	0.06	-17.4596	10.3548	0.43958	0.0:0.0:0.8035:0.1965	.	1;1	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	I	1	ENSP00000392388:M1I;ENSP00000219255:M1I	ENSP00000219255:M1I	M	+	3	0	PARD6A	66252445	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.996000	0.57009	1.061000	0.40601	0.313000	0.20887	ATG		0.781	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948	Missense_Mutation	23	47	0	0	0	0	23	47				
EDC4	23644	broad.mit.edu	37	16	67913615	67913615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:67913615G>T	ENST00000358933.5	+	15	1998	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	587					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTGAGCAGTGAGACCAAGCC	0.632																																						uc002eur.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1759-1761)GAG>TAG		autoantigen RCD8							129.0	110.0	116.0					16																	67913615		2198	4299	6497	SO:0001587	stop_gained	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913615G>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1759G>T	16.37:g.67913615G>T	ENSP00000351811:p.Glu587*					EDC4_uc010cer.2_Nonsense_Mutation_p.E206*|EDC4_uc010vkg.1_Nonsense_Mutation_p.E519*|EDC4_uc010ces.1_Nonsense_Mutation_p.E375*|EDC4_uc002eus.2_Nonsense_Mutation_p.E317*|EDC4_uc002eut.1_5'Flank	p.E587*	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	15	1925	+		Ovarian(137;0.0563)	587					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Nonsense_Mutation	SNP	ENST00000358933.5	37	c.1759G>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	39	7.683274	0.98431	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.78	5.78	0.91487	.	0.238159	0.46758	D	0.000263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-23.4206	19.6154	0.95632	0.0:0.0:1.0:0.0	.	.	.	.	X	587;519	.	ENSP00000351811:E587X	E	+	1	0	EDC4	66471116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.628000	0.83189	2.730000	0.93505	0.655000	0.94253	GAG		0.632	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	231	1	0	0.000274275	0.000368916	7	231				
SLC7A6OS	84138	broad.mit.edu	37	16	68337973	68337973	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:68337973C>G	ENST00000263997.6	-	3	652	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	212					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGATGTTCTCAATCCAGCCT	0.527																																						uc002evw.1		NA																	0				ovary(1)	1						c.(634-636)GAG>CAG		solute carrier family 7, member 6 opposite							157.0	138.0	145.0					16																	68337973		2198	4300	6498	SO:0001583	missense	84138				protein transport	cytoplasm|nucleus		g.chr16:68337973C>G		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.634G>C	16.37:g.68337973C>G	ENSP00000263997:p.Glu212Gln						p.E212Q	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	3	653	-		Ovarian(137;0.192)	212					Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	c.634G>C	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460293	0.63401	.	.	ENSG00000103061	ENST00000263997	T	0.17054	2.3	5.79	4.84	0.62591	.	0.099482	0.64402	D	0.000001	T	0.12092	0.0294	L	0.29908	0.895	0.43300	D	0.995297	B	0.31435	0.323	B	0.34418	0.182	T	0.16600	-1.0397	10	0.16896	T	0.51	-35.6554	8.3732	0.32427	0.0:0.7626:0.1554:0.082	.	212	Q96CW6	S7A6O_HUMAN	Q	212	ENSP00000263997:E212Q	ENSP00000263997:E212Q	E	-	1	0	SLC7A6OS	66895474	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.140000	0.50585	1.467000	0.48044	0.555000	0.69702	GAG		0.527	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		10	145	0	0	0	0	10	145				
CDH3	1001	broad.mit.edu	37	16	68729192	68729192	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:68729192G>A	ENST00000264012.4	+	14	2581	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K	CDH3_ENST00000581171.1_Silent_p.K624K|CDH3_ENST00000429102.2_Silent_p.K679K	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	679					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)		TGGTGAGAAAGAAGCGGAAGA	0.587																																						uc002ewf.2		NA																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(2035-2037)AAG>AAA		cadherin 3, type 1 preproprotein							70.0	65.0	66.0					16																	68729192		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.chr16:68729192G>A	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.2037G>A	16.37:g.68729192G>A						CDH3_uc010vli.1_Silent_p.K624K	p.K679K	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	14	3169	+		Ovarian(137;0.0564)	679			Cytoplasmic (Potential).		B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.2037G>A	CCDS10868.1																																																																																				0.587	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		11	73	0	0	0	0	11	73				
CHST4	10164	broad.mit.edu	37	16	71570718	71570718	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:71570718G>T	ENST00000338482.5	+	3	481	c.138G>T	c.(136-138)ctG>ctT	p.L46L	CHST4_ENST00000572450.1_Silent_p.L46L|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.L46L			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	46					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCACGTGCTGGTTCTGTCTT	0.557																																						uc002fan.2		NA																	0					0						c.(136-138)CTG>CTT		carbohydrate (N-acetylglucosamine 6-O)							137.0	128.0	131.0					16																	71570718		2198	4300	6498	SO:0001819	synonymous_variant	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570718G>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.138G>T	16.37:g.71570718G>T						CHST4_uc002fao.2_Silent_p.L46L	p.L46L	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	319	+			46			Lumenal (Potential).		Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	c.138G>T	CCDS10902.1																																																																																				0.557	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		5	189	1	0	0.000602214	0.000802385	5	189				
ATP2C2	9914	broad.mit.edu	37	16	84485542	84485542	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:84485542C>G	ENST00000262429.4	+	18	1765	c.1676C>G	c.(1675-1677)tCt>tGt	p.S559C	ATP2C2_ENST00000416219.2_Missense_Mutation_p.S559C|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	559					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCCTGGCTTCTGGGCCCGAG	0.582																																						uc002fhx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1675-1677)TCT>TGT		ATPase, Ca++ transporting, type 2C, member 2							80.0	90.0	87.0					16																	84485542		1899	4124	6023	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84485542C>G	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1676C>G	16.37:g.84485542C>G	ENSP00000262429:p.Ser559Cys					ATP2C2_uc010chj.2_Missense_Mutation_p.S559C|ATP2C2_uc002fhy.2_Missense_Mutation_p.S576C|ATP2C2_uc002fhz.2_Missense_Mutation_p.S408C	p.S559C	NM_014861	NP_055676	O75185	AT2C2_HUMAN			18	1765	+			559			Extracellular (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1676C>G	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767413	0.49574	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.97114	-4.25;-4.25	4.96	4.96	0.65561	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000005	D	0.96589	0.8887	L	0.31157	0.91	0.52099	D	0.999948	B;P;B;P	0.52316	0.022;0.941;0.018;0.952	B;P;B;P	0.59115	0.049;0.673;0.046;0.852	D	0.96718	0.9530	10	0.44086	T	0.13	.	17.1719	0.86832	0.0:1.0:0.0:0.0	.	559;408;576;559	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	C	559;559;408	ENSP00000397925:S559C;ENSP00000262429:S559C	ENSP00000262429:S559C	S	+	2	0	ATP2C2	83043043	1.000000	0.71417	0.815000	0.32552	0.613000	0.37349	7.527000	0.81931	2.298000	0.77334	0.484000	0.47621	TCT		0.582	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		25	308	0	0	0	0	25	308				
ANKRD11	29123	broad.mit.edu	37	16	89371734	89371734	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:89371734G>C	ENST00000301030.4	-	4	566	c.106C>G	c.(106-108)Cta>Gta	p.L36V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L36V|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000563291.1_Missense_Mutation_p.L36V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	36					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTCTTGGTTAGAGAAACTTTA	0.507																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(106-108)CTA>GTA		ankyrin repeat domain 11							59.0	60.0	60.0					16																	89371734		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89371734G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.106C>G	16.37:g.89371734G>C	ENSP00000301030:p.Leu36Val					ANKRD11_uc002fmy.1_Missense_Mutation_p.L36V|ANKRD11_uc002fnc.1_Missense_Mutation_p.L36V|ANKRD11_uc002fnd.2_5'UTR|ANKRD11_uc002fne.2_5'UTR|ANKRD11_uc002fng.1_Missense_Mutation_p.L36V|ANKRD11_uc002fnf.1_Missense_Mutation_p.L36V	p.L36V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	4	567	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	36					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.106C>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802922	0.70682	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.44482	0.92;0.92	4.59	4.59	0.56863	.	0.100510	0.43260	D	0.000595	T	0.49115	0.1538	L	0.29908	0.895	0.41300	D	0.987035	D;D	0.67145	0.996;0.983	P;P	0.58266	0.836;0.708	T	0.52953	-0.8506	10	0.52906	T	0.07	.	17.7595	0.88460	0.0:0.0:1.0:0.0	.	36;36	Q9UHR3;Q6UB99	.;ANR11_HUMAN	V	36;36;50	ENSP00000301030:L36V;ENSP00000367581:L36V	ENSP00000301030:L36V	L	-	1	2	ANKRD11	87899235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.647000	0.61418	2.270000	0.75569	0.561000	0.74099	CTA		0.507	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	115	0	0	0	0	7	115				
SMYD4	114826	broad.mit.edu	37	17	1703541	1703541	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:1703541C>T	ENST00000305513.7	-	5	1314	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	383	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTGTTGCTTTCAGGTAAACAG	0.418																																						uc002ftm.3		NA																	0				skin(3)|kidney(2)	5						c.(1147-1149)GAA>AAA		SET and MYND domain containing 4							156.0	148.0	151.0					17																	1703541		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1703541C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1147G>A	17.37:g.1703541C>T	ENSP00000304360:p.Glu383Lys					SMYD4_uc002ftn.1_Missense_Mutation_p.E238K	p.E383K	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			5	1315	-			383					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.1147G>A	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804581	0.16467	.	.	ENSG00000186532	ENST00000305513	T	0.10477	2.87	5.85	2.84	0.33178	SET domain (2);	0.203417	0.44097	N	0.000489	T	0.10937	0.0267	L	0.60455	1.87	0.09310	N	1	B	0.25105	0.118	B	0.27796	0.083	T	0.27872	-1.0061	10	0.23302	T	0.38	-9.5997	7.9508	0.30014	0.0:0.6862:0.0:0.3138	.	383	Q8IYR2	SMYD4_HUMAN	K	383	ENSP00000304360:E383K	ENSP00000304360:E383K	E	-	1	0	SMYD4	1650291	0.963000	0.33076	0.905000	0.35620	0.028000	0.11728	1.171000	0.31896	0.504000	0.28082	-0.136000	0.14681	GAA		0.418	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		17	196	0	0	0	0	17	196				
RPA1	6117	broad.mit.edu	37	17	1747221	1747221	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:1747221G>A	ENST00000254719.5	+	3	202	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	31					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TAGAACATCCGTCCCATTACT	0.488								Nucleotide excision repair (NER)																														uc002fto.2		NA																	0					0						c.(91-93)CGT>CAT	NER	replication protein A1							178.0	128.0	145.0					17																	1747221		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1747221G>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.92G>A	17.37:g.1747221G>A	ENSP00000254719:p.Arg31His						p.R31H	NM_002945	NP_002936	P27694	RFA1_HUMAN			3	207	+			31					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.92G>A	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650158	0.87958	.	.	ENSG00000132383	ENST00000254719	T	0.50813	0.73	5.96	5.96	0.96718	Replication factor-A protein 1, N-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.77664	-0.2503	10	0.87932	D	0	-10.0022	19.1907	0.93664	0.0:0.0:1.0:0.0	.	31	P27694	RFA1_HUMAN	H	31	ENSP00000254719:R31H	ENSP00000254719:R31H	R	+	2	0	RPA1	1693971	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.117000	0.71577	2.831000	0.97527	0.650000	0.86243	CGT		0.488	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		69	36	0	0	0	0	69	36				
METTL16	79066	broad.mit.edu	37	17	2323539	2323539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:2323539C>A	ENST00000263092.6	-	10	1541	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Nonsense_Mutation_p.G254*	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	472							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TCCACCCCTCCCTTTTCCTCA	0.617																																						uc002fut.2		NA																	0					0						c.(1414-1416)GGA>TGA		methyltransferase 10 domain containing							122.0	129.0	127.0					17																	2323539		1930	4130	6060	SO:0001587	stop_gained	79066						methyltransferase activity	g.chr17:2323539C>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1414G>T	17.37:g.2323539C>A	ENSP00000263092:p.Gly472*					METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Nonsense_Mutation_p.G254*	p.G472*	NM_024086	NP_076991	Q86W50	MET16_HUMAN			10	1562	-			472					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Nonsense_Mutation	SNP	ENST00000263092.6	37	c.1414G>T	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.723141	0.96847	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	.	.	.	5.87	5.87	0.94306	.	0.406043	0.28156	N	0.016381	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-3.5097	11.0377	0.47811	0.0:0.916:0.0:0.084	.	.	.	.	X	472;152;254	.	ENSP00000263092:G472X	G	-	1	0	METTL16	2270289	0.984000	0.35163	1.000000	0.80357	0.559000	0.35586	1.923000	0.40055	2.772000	0.95346	0.650000	0.86243	GGA		0.617	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		95	281	1	0	6.45e-38	1.08e-37	95	281				
CAMTA2	23125	broad.mit.edu	37	17	4883457	4883457	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:4883457C>A	ENST00000348066.3	-	9	1283	c.1160G>T	c.(1159-1161)gGc>gTc	p.G387V	CAMTA2_ENST00000358183.4_Missense_Mutation_p.G387V|CAMTA2_ENST00000361571.5_Missense_Mutation_p.G386V|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G389V|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G410V|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G392V|CAMTA2_ENST00000571831.1_5'Flank	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	387					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATATGTCTGGCCCCTCTGGGG	0.617																																						uc002gah.1		NA																	0				ovary(1)	1						c.(1159-1161)GGC>GTC		calmodulin binding transcription activator 2							28.0	33.0	31.0					17																	4883457		2182	4285	6467	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883457C>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1160G>T	17.37:g.4883457C>A	ENSP00000321813:p.Gly387Val					CAMTA2_uc010cku.1_Missense_Mutation_p.G410V|CAMTA2_uc002gag.1_Missense_Mutation_p.G386V|CAMTA2_uc002gai.1_Missense_Mutation_p.G389V|CAMTA2_uc010ckv.1_Missense_Mutation_p.G34V|CAMTA2_uc010vsu.1_Missense_Mutation_p.G200V	p.G387V	NM_015099	NP_055914	O94983	CMTA2_HUMAN			9	1268	-			387					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.1160G>T	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242141	0.79912	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000009	T	0.76414	0.3984	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.999;0.997;0.998	T	0.77169	-0.2686	10	0.48119	T	0.1	-14.8364	14.9357	0.70954	0.0:1.0:0.0:0.0	.	363;410;389;387;386	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	V	410;389;386;387;387	ENSP00000412886:G410V;ENSP00000370712:G389V;ENSP00000354828:G386V;ENSP00000350910:G387V;ENSP00000321813:G387V	ENSP00000321813:G387V	G	-	2	0	CAMTA2	4824181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.098000	0.76974	2.387000	0.81309	0.655000	0.94253	GGC		0.617	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		28	79	1	0	4.78e-09	6.88e-09	28	79				
MYH4	4622	broad.mit.edu	37	17	10353772	10353772	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:10353772G>T	ENST00000255381.2	-	30	4289	c.4179C>A	c.(4177-4179)gcC>gcA	p.A1393A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1393					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCACATACTTGGCCTCCTCCA	0.517																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4177-4179)GCC>GCA		myosin, heavy polypeptide 4, skeletal muscle							120.0	112.0	115.0					17																	10353772		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10353772G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4179C>A	17.37:g.10353772G>T						uc002gml.1_Intron	p.A1393A	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			30	4290	-			1393			Potential.			Silent	SNP	ENST00000255381.2	37	c.4179C>A	CCDS11154.1																																																																																				0.517	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		83	171	1	0	2.93e-43	4.95e-43	83	171				
MYO15A	51168	broad.mit.edu	37	17	18070960	18070960	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:18070960C>T	ENST00000205890.5	+	62	10343	c.10005C>T	c.(10003-10005)agC>agT	p.S3335S	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Silent_p.S599S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3335	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCGGCCCAGCGAGCAGCTGC	0.662																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(10003-10005)AGC>AGT		myosin XV							26.0	30.0	29.0					17																	18070960		2071	4211	6282	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18070960C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10005C>T	17.37:g.18070960C>T						MYO15A_uc010vxi.1_Silent_p.S599S|MYO15A_uc010vxk.1_Silent_p.S28S|MYO15A_uc010vxl.1_Silent_p.S324S|MYO15A_uc002gsl.2_Silent_p.S342S|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_RNA	p.S3335S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			61	10343	+	all_neural(463;0.228)		3335			Tail.|FERM.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.10005C>T	CCDS42271.1																																																																																				0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		23	45	0	0	0	0	23	45				
NF1	4763	broad.mit.edu	37	17	29490331	29490331	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29490331C>G	ENST00000358273.4	+	4	799	c.416C>G	c.(415-417)tCt>tGt	p.S139C	NF1_ENST00000431387.4_Missense_Mutation_p.S139C|NF1_ENST00000356175.3_Missense_Mutation_p.S139C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	139					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTCTGCCTCTGGGGTTTTA	0.443			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.0?(5)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(415-417)TCT>TGT		neurofibromin isoform 1							62.0	61.0	62.0					17																	29490331		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29490331C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.416C>G	17.37:g.29490331C>G	ENSP00000351015:p.Ser139Cys	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Missense_Mutation_p.S139C|NF1_uc002hgf.1_Missense_Mutation_p.S139C|NF1_uc002hgh.2_Missense_Mutation_p.S139C|NF1_uc010csn.1_Missense_Mutation_p.L35V	p.S139C	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	749	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	139					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.416C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830868	0.50845	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	D;D;D	0.81739	-1.53;-1.53;-1.53	5.84	5.84	0.93424	.	0.057024	0.64402	D	0.000001	D	0.87985	0.6316	L	0.49455	1.56	0.80722	D	1	D;B;D;D	0.76494	0.999;0.09;0.999;0.999	D;B;D;D	0.79108	0.992;0.06;0.992;0.992	D	0.87679	0.2546	10	0.62326	D	0.03	.	20.1295	0.97995	0.0:1.0:0.0:0.0	.	139;139;139;139	P21359-2;P21359;Q14931;P21359-3	.;NF1_HUMAN;.;.	C	139	ENSP00000412921:S139C;ENSP00000351015:S139C;ENSP00000348498:S139C	ENSP00000348498:S139C	S	+	2	0	NF1	26514457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.161000	0.77505	2.758000	0.94735	0.591000	0.81541	TCT		0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		3	96	0	0	0	0	3	96				
NF1	4763	broad.mit.edu	37	17	29528502	29528502	+	Splice_Site	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29528502A>T	ENST00000358273.4	+	11	1642	c.1259A>T	c.(1258-1260)aAt>aTt	p.N420I	NF1_ENST00000431387.4_Splice_Site_p.N420I|NF1_ENST00000356175.3_Splice_Site_p.N420I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	420					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCATCACCAATGTAAGTCCA	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(6)	p.?(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1258-1260)AAT>ATT		neurofibromin isoform 1							79.0	88.0	85.0					17																	29528502		2203	4294	6497	SO:0001630	splice_region_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29528502A>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1260+1A>T	17.37:g.29528502A>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Missense_Mutation_p.N420I|NF1_uc002hgf.1_Missense_Mutation_p.N420I|NF1_uc002hgh.2_Missense_Mutation_p.N420I|NF1_uc010csn.1_Missense_Mutation_p.N280I	p.N420I	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1592	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	420					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1259A>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981073	0.74474	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.17	5.17	0.71159	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.71674	0.958;0.997;0.979;0.998;0.998	B;D;P;D;P	0.78314	0.438;0.991;0.592;0.914;0.878	D	0.88155	0.2853	10	0.87932	D	0	.	14.9965	0.71436	1.0:0.0:0.0:0.0	.	420;420;420;420;420	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	I	420;420;420;86	ENSP00000412921:N420I;ENSP00000351015:N420I;ENSP00000348498:N420I;ENSP00000389907:N86I	ENSP00000348498:N420I	N	+	2	0	NF1	26552628	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	8.605000	0.90883	1.953000	0.56701	0.402000	0.26972	AAT		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Missense_Mutation	148	90	0	0	0	0	148	90				
EVI2B	2124	broad.mit.edu	37	17	29631403	29631403	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29631403C>T	ENST00000330927.4	-	2	1379	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	EVI2B_ENST00000544462.1_Missense_Mutation_p.D424N|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.D409N	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	409						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCATAAAATCTACTGGTGGC	0.423																																						uc002hgk.2		NA																	11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	ovary(2)	2						c.(1225-1227)GAT>AAT		ecotropic viral integration site 2B precursor							121.0	110.0	114.0					17																	29631403		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631403C>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.1225G>A	17.37:g.29631403C>T	ENSP00000333779:p.Asp409Asn					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.D424N	p.D409N	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	1380	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	409			Cytoplasmic (Potential).		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.1225G>A	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570251	0.28003	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.48522	0.81;0.81	5.36	3.2	0.36748	.	0.429796	0.19828	N	0.105141	T	0.48390	0.1497	L	0.34521	1.04	0.19575	N	0.999962	D;D	0.55385	0.971;0.971	P;P	0.55455	0.776;0.776	T	0.34477	-0.9827	10	0.87932	D	0	-5.0096	10.0379	0.42139	0.3668:0.6332:0.0:0.0	.	424;409	B7Z4A7;P34910	.;EVI2B_HUMAN	N	409;424	ENSP00000333779:D409N;ENSP00000439738:D424N	ENSP00000333779:D409N	D	-	1	0	EVI2B	26655529	0.027000	0.19231	0.712000	0.30502	0.063000	0.16089	1.248000	0.32827	1.211000	0.43351	0.561000	0.74099	GAT		0.423	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		40	91	0	0	0	0	40	91				
MYO19	80179	broad.mit.edu	37	17	34863652	34863652	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:34863652C>G	ENST00000431794.3	-	15	1865	c.1343G>C	c.(1342-1344)aGg>aCg	p.R448T	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	448	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCTGGGCCCTTAGGTAGTG	0.512																																						uc010wcy.1		NA																	0				ovary(1)	1						c.(1342-1344)AGG>ACG		myosin XIX isoform 2							61.0	63.0	62.0					17																	34863652		2140	4270	6410	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34863652C>G	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1343G>C	17.37:g.34863652C>G	ENSP00000409936:p.Arg448Thr					MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	p.R448T	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	16	2335	-		Breast(25;0.00957)|Ovarian(249;0.17)	448			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1343G>C	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107639	0.56291	.	.	ENSG00000141140	ENST00000415126;ENST00000431794	D	0.86956	-2.19	5.76	0.322	0.15888	Myosin head, motor domain (2);	.	.	.	.	D	0.83677	0.5306	L	0.43598	1.365	0.09310	N	0.999999	P	0.37781	0.608	P	0.46208	0.507	T	0.74077	-0.3781	9	0.62326	D	0.03	.	4.1197	0.10099	0.1559:0.3964:0.0:0.4477	.	448	Q96H55	MYO19_HUMAN	T	183;448	ENSP00000409936:R448T	ENSP00000397134:R183T	R	-	2	0	MYO19	31937765	0.215000	0.23574	0.002000	0.10522	0.967000	0.64934	0.631000	0.24568	0.076000	0.16826	-0.140000	0.14226	AGG		0.512	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		14	29	0	0	0	0	14	29				
KRT24	192666	broad.mit.edu	37	17	38858167	38858167	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38858167C>G	ENST00000264651.2	-	2	690	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	212	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCAGCATTTTCAACAGTGGCA	0.393																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2		NA																	0					0						c.(634-636)GAA>CAA		keratin 24							83.0	76.0	78.0					17																	38858167		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38858167C>G		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.634G>C	17.37:g.38858167C>G	ENSP00000264651:p.Glu212Gln						p.E212Q	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			2	691	-		Breast(137;0.00526)	212			Rod.|Coil 1B.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.634G>C	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192395	0.58017	.	.	ENSG00000167916	ENST00000264651	D	0.90324	-2.65	6.04	6.04	0.98038	Filament (1);	.	.	.	.	D	0.89935	0.6859	M	0.72118	2.19	0.23331	N	0.997898	B	0.25850	0.136	B	0.21151	0.033	T	0.82149	-0.0600	9	0.48119	T	0.1	.	15.0906	0.72192	0.0:0.859:0.141:0.0	.	212	Q2M2I5	K1C24_HUMAN	Q	212	ENSP00000264651:E212Q	ENSP00000264651:E212Q	E	-	1	0	KRT24	36111693	0.001000	0.12720	0.986000	0.45419	0.985000	0.73830	1.360000	0.34125	2.873000	0.98535	0.561000	0.74099	GAA		0.393	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		3	48	0	0	0	0	3	48				
KRT24	192666	broad.mit.edu	37	17	38859533	38859533	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38859533C>G	ENST00000264651.2	-	1	469	c.413G>C	c.(412-414)gGa>gCa	p.G138A		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	138	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTTTTCCCCTCCAGAGAAAAG	0.522																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2		NA																	0					0						c.(412-414)GGA>GCA		keratin 24							198.0	209.0	205.0					17																	38859533		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859533C>G		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.413G>C	17.37:g.38859533C>G	ENSP00000264651:p.Gly138Ala						p.G138A	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			1	470	-		Breast(137;0.00526)	138			Head.|Gly-rich.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.413G>C	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985042	0.53934	.	.	ENSG00000167916	ENST00000264651	D	0.91740	-2.9	5.6	5.6	0.85130	.	.	.	.	.	D	0.93700	0.7987	L	0.56769	1.78	0.41804	D	0.989937	D	0.67145	0.996	P	0.58210	0.835	D	0.93810	0.7109	9	0.66056	D	0.02	.	13.8803	0.63678	0.1524:0.8476:0.0:0.0	.	138	Q2M2I5	K1C24_HUMAN	A	138	ENSP00000264651:G138A	ENSP00000264651:G138A	G	-	2	0	KRT24	36113059	0.933000	0.31639	1.000000	0.80357	0.890000	0.51754	3.790000	0.55461	2.800000	0.96347	0.655000	0.94253	GGA		0.522	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		30	371	0	0	0	0	30	371				
KRT25	147183	broad.mit.edu	37	17	38906696	38906696	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38906696C>G	ENST00000312150.4	-	6	1171	c.1111G>C	c.(1111-1113)Gac>Cac	p.D371H		NM_181534.3	NP_853512.1			keratin 25									p.D371N(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCTTGATGTCCAGGAGCTGC	0.527																																						uc002hve.2		NA																	1	Substitution - Missense(1)	p.D371N(1)	ovary(1)	ovary(2)	2						c.(1111-1113)GAC>CAC		keratin 25							150.0	150.0	150.0					17																	38906696		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906696C>G	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1111G>C	17.37:g.38906696C>G	ENSP00000310573:p.Asp371His						p.D371H	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			6	1172	-		Breast(137;0.00526)	371			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000312150.4	37	c.1111G>C	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.448031	0.43429	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.91577	-2.87	5.52	0.809	0.18725	Filament (1);	0.302373	0.28062	N	0.016749	D	0.92541	0.7631	M	0.90705	3.14	0.31774	N	0.631746	B	0.24426	0.103	B	0.39503	0.301	D	0.91349	0.5103	10	0.72032	D	0.01	.	8.8692	0.35305	0.0:0.6719:0.1182:0.2098	.	371	Q7Z3Z0	K1C25_HUMAN	H	300;371	ENSP00000310573:D371H	ENSP00000310573:D371H	D	-	1	0	KRT25	36160222	1.000000	0.71417	0.876000	0.34364	0.901000	0.52897	3.067000	0.50010	0.274000	0.22072	-0.136000	0.14681	GAC		0.527	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		91	337	0	0	0	0	91	337				
KRT25	147183	broad.mit.edu	37	17	38906822	38906822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38906822C>A	ENST00000312150.4	-	6	1045	c.985G>T	c.(985-987)Gag>Tag	p.E329*		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTCTCGGTCTCTGTCAAGGAG	0.527																																						uc002hve.2		NA																	0				ovary(2)	2						c.(985-987)GAG>TAG		keratin 25							120.0	122.0	121.0					17																	38906822		2203	4300	6503	SO:0001587	stop_gained	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906822C>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.985G>T	17.37:g.38906822C>A	ENSP00000310573:p.Glu329*						p.E329*	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			6	1046	-		Breast(137;0.00526)	329			Rod.|Coil 2.			Nonsense_Mutation	SNP	ENST00000312150.4	37	c.985G>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195798	0.94960	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	.	.	.	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	.	.	.	X	258;329	.	ENSP00000310573:E329X	E	-	1	0	KRT25	36160348	1.000000	0.71417	0.949000	0.38748	0.503000	0.33858	5.496000	0.66918	2.531000	0.85337	0.655000	0.94253	GAG		0.527	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		64	311	1	0	7.76e-34	1.29e-33	64	311				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						uc002hvz.2		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(481-483)CTG>GTG		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	520	-		Breast(137;0.000496)	161			27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	30	0	0	0	0	3	30				
ABCA10	10349	broad.mit.edu	37	17	67197788	67197788	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:67197788G>A	ENST00000269081.4	-	11	1937	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	ABCA10_ENST00000432313.2_Missense_Mutation_p.S343F|ABCA10_ENST00000416101.2_Missense_Mutation_p.S343F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	343					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAATAATGGAGAATCCCCATG	0.318																																						uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1027-1029)TCT>TTT		ATP-binding cassette, sub-family A, member 10							50.0	52.0	52.0					17																	67197788		2202	4296	6498	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67197788G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1028C>T	17.37:g.67197788G>A	ENSP00000269081:p.Ser343Phe					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	p.S343F	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			11	1907	-	Breast(10;6.95e-12)		343					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1028C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050243	0.36181	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.88431	-2.38;-2.15;-1.83	2.78	2.78	0.32641	.	0.249386	0.20598	U	0.089208	D	0.91683	0.7371	M	0.84773	2.715	0.18873	N	0.999983	P	0.50443	0.935	P	0.54924	0.764	D	0.84401	0.0560	10	0.72032	D	0.01	.	6.6264	0.22833	0.0:0.197:0.601:0.2019	.	343	Q8WWZ4	ABCAA_HUMAN	F	343	ENSP00000269081:S343F;ENSP00000407772:S343F;ENSP00000387674:S343F	ENSP00000269081:S343F	S	-	2	0	ABCA10	64709383	0.986000	0.35501	0.024000	0.17045	0.029000	0.11900	5.980000	0.70516	1.381000	0.46364	0.508000	0.49915	TCT		0.318	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		13	56	0	0	0	0	13	56				
METTL23	124512	broad.mit.edu	37	17	74729274	74729274	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:74729274C>G	ENST00000341249.6	+	3	631	c.299C>G	c.(298-300)tCt>tGt	p.S100C	RP11-318A15.7_ENST00000587459.1_Missense_Mutation_p.S72C|METTL23_ENST00000586738.1_Missense_Mutation_p.S100C|METTL23_ENST00000590964.1_Missense_Mutation_p.S33C|METTL23_ENST00000589977.1_Missense_Mutation_p.S100C|METTL23_ENST00000588302.1_Missense_Mutation_p.S33C|METTL23_ENST00000586752.1_Missense_Mutation_p.S33C|METTL23_ENST00000588822.1_Missense_Mutation_p.S33C|METTL23_ENST00000586200.1_Intron|METTL23_ENST00000591571.1_Missense_Mutation_p.S33C|METTL23_ENST00000588783.1_Missense_Mutation_p.S100C|MFSD11_ENST00000586622.1_5'Flank	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	100						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						ATCCTTGCATCTGATGTGTTC	0.403																																						uc002jsr.2		NA																	0					0						c.(298-300)TCT>TGT		hypothetical protein LOC124512							77.0	71.0	73.0					17																	74729274		1867	4117	5984	SO:0001583	missense	124512					integral to membrane	methyltransferase activity	g.chr17:74729274C>G		CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.299C>G	17.37:g.74729274C>G	ENSP00000341543:p.Ser100Cys					C17orf95_uc002jsp.2_Missense_Mutation_p.S100C|C17orf95_uc002jsq.2_RNA|C17orf95_uc002jss.2_Missense_Mutation_p.S100C|C17orf95_uc002jst.2_Missense_Mutation_p.S33C|C17orf95_uc002jsu.2_Intron|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank	p.S100C	NM_001080510	NP_001073979	Q86XA0	MET23_HUMAN			3	631	+			100					H9ZYJ0|K7EK32	Missense_Mutation	SNP	ENST00000341249.6	37	c.299C>G	CCDS45787.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041877	0.93685	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.09255	3.0	6.17	6.17	0.99709	.	0.052534	0.85682	D	0.000000	T	0.39517	0.1081	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.954;0.995	T	0.06409	-1.0828	10	0.87932	D	0	-16.3351	20.4745	0.99168	0.0:1.0:0.0:0.0	.	100;180	Q86XA0;Q8N712	MET23_HUMAN;.	C	179;100	ENSP00000341543:S100C	ENSP00000316862:S179C	S	+	2	0	METTL23	72240869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	TCT		0.403	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		4	60	0	0	0	0	4	60				
RNF213	57674	broad.mit.edu	37	17	78327389	78327389	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:78327389G>C	ENST00000582970.1	+	34	10644	c.10501G>C	c.(10501-10503)Gag>Cag	p.E3501Q	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E3550Q|RNF213_ENST00000336301.6_Missense_Mutation_p.E1574Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3501					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1574Q(1)|p.E3550Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAGGTGGCAGAGGTGGCAGA	0.567																																						uc002jyh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(4720-4722)GAG>CAG		ring finger protein 213							105.0	90.0	95.0					17																	78327389		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78327389G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10501G>C	17.37:g.78327389G>C	ENSP00000464087:p.Glu3501Gln					uc002jyi.1_RNA|RNF213_uc010dhw.1_5'Flank	p.E1574Q	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		9	4943	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.4720G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	2.418	-0.333773	0.05278	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23950	1.88	0.0465	0.0465	0.14256	.	1.155600	0.06467	N	0.730546	T	0.15782	0.0380	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.31223	-0.9951	9	0.29301	T	0.29	.	.	.	.	.	1574	Q63HN8	RN213_HUMAN	Q	3501;3550;1574	ENSP00000338218:E1574Q	ENSP00000338218:E1574Q	E	+	1	0	RNF213	75941984	0.026000	0.19158	0.090000	0.20809	0.109000	0.19521	0.136000	0.15974	0.132000	0.18615	0.134000	0.15878	GAG		0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	78	0	0	0	0	5	78				
MTCL1	23255	broad.mit.edu	37	18	8783661	8783661	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:8783661A>C	ENST00000306329.11	+	5	1631	c.1631A>C	c.(1630-1632)tAt>tCt	p.Y544S	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.Y184S|SOGA2_ENST00000359865.3_Missense_Mutation_p.Y184S|SOGA2_ENST00000517570.1_Missense_Mutation_p.Y184S																							AAGTCCCTCTATGGGGATGTG	0.612																																						uc002knr.2		NA																	0					0						c.(550-552)TAT>TCT		hypothetical protein LOC23255							30.0	33.0	32.0					18																	8783661		2202	4300	6502	SO:0001583	missense	23255							g.chr18:8783661A>C																												ENST00000306329.11:c.1631A>C	18.37:g.8783661A>C	ENSP00000305027:p.Tyr544Ser					KIAA0802_uc002knq.2_Missense_Mutation_p.Y184S|KIAA0802_uc010dkw.1_Missense_Mutation_p.Y22S	p.Y184S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	693	+			535			Potential.			Missense_Mutation	SNP	ENST00000306329.11	37	c.551A>C		.	.	.	.	.	.	.	.	.	.	A	13.34	2.209447	0.39003	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.79454	-1.27;-1.27;-1.27	5.96	5.96	0.96718	.	0.000000	0.47093	D	0.000244	D	0.88621	0.6486	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89488	0.3755	10	0.59425	D	0.04	-15.5398	16.4343	0.83869	1.0:0.0:0.0:0.0	.	205;184	A8MQ54;Q9Y4B5-3	.;.	S	205;184;184;184	ENSP00000429556:Y184S;ENSP00000352927:Y184S;ENSP00000382924:Y184S	ENSP00000305027:Y205S	Y	+	2	0	CCDC165	8773661	1.000000	0.71417	0.928000	0.36995	0.980000	0.70556	9.339000	0.96797	2.285000	0.76669	0.528000	0.53228	TAT		0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			3	44	0	0	0	0	3	44				
POTEC	388468	broad.mit.edu	37	18	14542977	14542977	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:14542977G>A	ENST00000358970.5	-	1	168	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	57										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCCTGAGCATCTTCATA	0.587																																						uc010dln.2		NA																	0				skin(3)	3						c.(169-171)CTC>TTC		ANKRD26-like family B, member 2							51.0	59.0	57.0					18																	14542977		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542977G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.169C>T	18.37:g.14542977G>A	ENSP00000351856:p.Leu57Phe					POTEC_uc010xaj.1_RNA	p.L57F	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	623	-			57						Missense_Mutation	SNP	ENST00000358970.5	37	c.169C>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	g	5.696	0.312923	0.10789	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.39787	1.06	0.448	0.448	0.16614	.	.	.	.	.	T	0.32556	0.0833	L	0.46157	1.445	0.09310	N	1	P	0.34864	0.473	B	0.33121	0.158	T	0.25847	-1.0120	8	0.66056	D	0.02	.	.	.	.	.	57	B2RU33	POTEC_HUMAN	F	57	ENSP00000351856:L57F	ENSP00000351856:L57F	L	-	1	0	POTEC	14532977	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.266000	0.18534	0.479000	0.27511	0.186000	0.17326	CTC		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		108	687	0	0	0	0	108	687				
DSG3	1830	broad.mit.edu	37	18	29052738	29052738	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:29052738C>T	ENST00000257189.4	+	14	2171	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	696					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGCCGATTTCATGGAAAGTT	0.323																																						uc002kws.2		NA																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2086-2088)TTC>TTT		desmoglein 3 preproprotein							76.0	75.0	75.0					18																	29052738		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29052738C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2088C>T	18.37:g.29052738C>T						DSG3_uc002kwt.2_5'Flank	p.F696F	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2197	+			696			Cytoplasmic (Potential).		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2088C>T	CCDS11898.1																																																																																				0.323	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		4	53	0	0	0	0	4	53				
ASXL3	80816	broad.mit.edu	37	18	31325388	31325388	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:31325388G>T	ENST00000269197.5	+	12	5576	c.5576G>T	c.(5575-5577)tGt>tTt	p.C1859F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1859					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGGGTGCCTTGTGTCATCAGT	0.468																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(5575-5577)TGT>TTT		additional sex combs like 3							210.0	211.0	210.0					18																	31325388		2036	4180	6216	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325388G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5576G>T	18.37:g.31325388G>T	ENSP00000269197:p.Cys1859Phe					ASXL3_uc002kxq.2_Missense_Mutation_p.C1566F	p.C1859F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5631	+			1859					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5576G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116331	0.56505	.	.	ENSG00000141431	ENST00000269197	T	0.28069	1.63	5.91	5.91	0.95273	.	.	.	.	.	T	0.46927	0.1418	L	0.27053	0.805	0.52501	D	0.999957	D	0.76494	0.999	D	0.85130	0.997	T	0.44636	-0.9315	9	0.87932	D	0	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	1859	Q9C0F0	ASXL3_HUMAN	F	1859	ENSP00000269197:C1859F	ENSP00000269197:C1859F	C	+	2	0	ASXL3	29579386	1.000000	0.71417	0.999000	0.59377	0.807000	0.45602	7.159000	0.77483	2.803000	0.96430	0.650000	0.86243	TGT		0.468	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			18	548	1	0	1.34e-09	1.94e-09	18	548				
ELP2	55250	broad.mit.edu	37	18	33750144	33750144	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:33750144T>G	ENST00000358232.6	+	20	2258	c.2195T>G	c.(2194-2196)cTc>cGc	p.L732R	ELP2_ENST00000423854.2_Missense_Mutation_p.L662R|ELP2_ENST00000442325.2_Missense_Mutation_p.L797R|ELP2_ENST00000351393.6_Missense_Mutation_p.L706R|ELP2_ENST00000542824.1_Missense_Mutation_p.L662R|ELP2_ENST00000350494.6_Missense_Mutation_p.L727R	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	732					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGCCCAGTGCTCCACCCTTCT	0.512																																						uc002kzk.1		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(2194-2196)CTC>CGC		elongator protein 2							147.0	120.0	129.0					18																	33750144		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33750144T>G	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2195T>G	18.37:g.33750144T>G	ENSP00000350967:p.Leu732Arg					ELP2_uc010xcg.1_Missense_Mutation_p.L797R|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.L706R|ELP2_uc010xch.1_Missense_Mutation_p.L727R|ELP2_uc002kzn.1_Missense_Mutation_p.L662R|ELP2_uc002kzo.1_Missense_Mutation_p.L662R	p.L732R	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			20	2205	+			732			WD 13.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.2195T>G	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	T	5.756	0.323923	0.10900	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.133960	0.51477	D	0.000091	T	0.47248	0.1435	L	0.46947	1.48	0.24271	N	0.995243	D;P;D;P;B;B	0.76494	0.999;0.868;0.996;0.577;0.164;0.441	D;B;D;B;B;B	0.69142	0.962;0.346;0.935;0.409;0.187;0.232	T	0.30937	-0.9961	10	0.25106	T	0.35	-5.6394	10.4762	0.44665	0.0:0.0:0.0:1.0	.	727;797;662;662;706;732	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	R	732;706;797;662;727;662	ENSP00000350967:L732R;ENSP00000257191:L706R;ENSP00000414851:L797R;ENSP00000391202:L662R;ENSP00000316051:L727R;ENSP00000443800:L662R	ENSP00000316051:L727R	L	+	2	0	ELP2	32004142	1.000000	0.71417	0.013000	0.15412	0.010000	0.07245	6.074000	0.71253	1.975000	0.57531	0.482000	0.46254	CTC		0.512	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		54	98	0	0	0	0	54	98				
RIT2	6014	broad.mit.edu	37	18	40613778	40613778	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:40613778A>G	ENST00000326695.5	-	2	329	c.158T>C	c.(157-159)aTa>aCa	p.I53T	RIT2_ENST00000282028.4_Missense_Mutation_p.I53T|RIT2_ENST00000589109.1_Missense_Mutation_p.I53T|RIT2_ENST00000590910.1_Missense_Mutation_p.I53T	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	53					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACTTACCTATAGTAGGGTC	0.308																																						uc002lav.2		NA																	0				ovary(1)	1						c.(157-159)ATA>ACA		Ras-like without CAAX 2							88.0	85.0	86.0					18																	40613778		2203	4299	6502	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40613778A>G	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.158T>C	18.37:g.40613778A>G	ENSP00000321805:p.Ile53Thr					RIT2_uc010dnf.2_Missense_Mutation_p.I53T	p.I53T	NM_002930	NP_002921	Q99578	RIT2_HUMAN			2	331	-			53					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.158T>C	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240510	0.58995	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	D;D	0.81821	-1.54;-1.54	4.6	4.6	0.57074	Small GTP-binding protein domain (1);	0.000000	0.56097	D	0.000025	D	0.90652	0.7068	M	0.90922	3.16	0.43485	D	0.995714	D;D	0.76494	0.999;0.983	D;D	0.75020	0.985;0.932	D	0.92265	0.5820	10	0.87932	D	0	.	11.7897	0.52063	1.0:0.0:0.0:0.0	.	53;53	Q99578-2;Q99578	.;RIT2_HUMAN	T	53	ENSP00000321805:I53T;ENSP00000282028:I53T	ENSP00000282028:I53T	I	-	2	0	RIT2	38867776	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.946000	0.63576	1.828000	0.53243	0.528000	0.53228	ATA		0.308	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		21	17	0	0	0	0	21	17				
SLC14A1	6563	broad.mit.edu	37	18	43310367	43310367	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:43310367A>G	ENST00000321925.4	+	3	314	c.82A>G	c.(82-84)Aga>Gga	p.R28G	SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.R28G|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R28G|SLC14A1_ENST00000535474.1_Intron|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.R84G|SLC14A1_ENST00000436407.3_Missense_Mutation_p.R84G|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000502059.2_Intron	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	28					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ATGTCAAGGGAGAAGGTGCTT	0.498																																						uc010xcn.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(82-84)AGA>GGA		solute carrier family 14 (urea transporter),							131.0	112.0	118.0					18																	43310367		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43310367A>G	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.82A>G	18.37:g.43310367A>G	ENSP00000318546:p.Arg28Gly					SLC14A1_uc010dnk.2_Missense_Mutation_p.R84G|SLC14A1_uc002lbf.3_Missense_Mutation_p.R28G|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.R84G|SLC14A1_uc002lbk.3_Missense_Mutation_p.R28G	p.R28G	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			4	401	+			28					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.82A>G	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393473	0.42410	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000436407	T;T;T	0.45276	0.96;0.9;0.9	5.84	4.69	0.59074	.	0.634884	0.15960	N	0.236312	T	0.23094	0.0558	N	0.16602	0.42	0.40445	D	0.980082	B;B	0.14438	0.01;0.0	B;B	0.11329	0.006;0.002	T	0.11941	-1.0567	10	0.14656	T	0.56	-12.2626	6.5484	0.22418	0.8478:0.0:0.1522:0.0	.	84;28	Q13336-2;Q13336	.;UT1_HUMAN	G	28;84;84	ENSP00000318546:R28G;ENSP00000412309:R84G;ENSP00000390637:R84G	ENSP00000318546:R28G	R	+	1	2	SLC14A1	41564365	0.991000	0.36638	0.493000	0.27502	0.600000	0.36913	2.683000	0.46943	2.232000	0.73038	0.533000	0.62120	AGA		0.498	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		6	121	0	0	0	0	6	121				
AP3D1	8943	broad.mit.edu	37	19	2109958	2109958	+	Splice_Site	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:2109958C>G	ENST00000345016.5	-	27	3310		c.e27-1		AP3D1_ENST00000350812.6_Splice_Site|AP3D1_ENST00000355272.6_Splice_Site|AP3D1_ENST00000356926.4_Splice_Site	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCATTCTGCGGTGGAG	0.642																																						uc002luz.2		NA																	0					0						c.e27-1		adaptor-related protein complex 3, delta 1							75.0	79.0	78.0					19																	2109958		2086	4226	6312	SO:0001630	splice_region_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2109958C>G	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3079-1G>C	19.37:g.2109958C>G						AP3D1_uc010dsv.2_Splice_Site_p.N117_splice|AP3D1_uc002luy.2_Splice_Site_p.N986_splice|AP3D1_uc002lva.2_Splice_Site_p.N1089_splice	p.N1027_splice	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3302	-		Hepatocellular(1079;0.137)						O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Splice_Site	SNP	ENST00000345016.5	37	c.3079_splice	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789881	0.31685	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4682	0.67497	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP3D1	2060958	1.000000	0.71417	0.631000	0.29282	0.014000	0.08584	6.998000	0.76277	2.191000	0.70037	0.561000	0.74099	.		0.642	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1		Intron	19	56	0	0	0	0	19	56				
EMR1	2015	broad.mit.edu	37	19	6924814	6924814	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:6924814G>T	ENST00000312053.4	+	15	1954	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.L587L|EMR1_ENST00000381407.5_Silent_p.L498L|EMR1_ENST00000450315.3_Silent_p.L462L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	639					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACCTCCACCTGCACCTCTGCG	0.552																																						uc002mfw.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1915-1917)CTG>CTT		egf-like module containing, mucin-like, hormone							254.0	157.0	190.0					19																	6924814		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6924814G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1917G>T	19.37:g.6924814G>T						EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Silent_p.L587L|EMR1_uc010xji.1_Silent_p.L498L|EMR1_uc010xjj.1_Silent_p.L462L	p.L639L	NM_001974	NP_001965	Q14246	EMR1_HUMAN			15	1955	+	all_hematologic(4;0.166)		639			Helical; Name=2; (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1917G>T	CCDS12175.1																																																																																				0.552	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			35	111	1	0	5.44e-19	8.45e-19	35	111				
PCP2	126006	broad.mit.edu	37	19	7697683	7697683	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:7697683G>A	ENST00000311069.5	-	2	375	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	CTD-3214H19.4_ENST00000595866.1_Intron|CTD-3214H19.6_ENST00000601797.1_RNA|PCP2_ENST00000598935.1_Silent_p.L13L	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	29	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						TGGCTCAGCAGATTGAAGAAG	0.672																																						uc002mgz.2		NA																	0					0						c.(85-87)CTG>TTG		Purkinje cell protein 2							33.0	26.0	28.0					19																	7697683		2195	4289	6484	SO:0001819	synonymous_variant	126006				signal transduction		GTPase activator activity	g.chr19:7697683G>A	BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.85C>T	19.37:g.7697683G>A							p.L29L	NM_174895	NP_777555	Q8IVA1	PCP2_HUMAN			2	312	-			29			GoLoco 1.		M0R2R7|Q3KRG7	Silent	SNP	ENST00000311069.5	37	c.85C>T	CCDS32893.1																																																																																				0.672	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461026.2	XM_058956		5	4	0	0	0	0	5	4				
LRRC8E	80131	broad.mit.edu	37	19	7965435	7965435	+	Silent	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:7965435A>T	ENST00000306708.6	+	3	2129	c.2028A>T	c.(2026-2028)tcA>tcT	p.S676S	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	676					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCCTGTGCTCAGGCCTCCGTC	0.632																																						uc002mir.2		NA																	0				lung(1)|pancreas(1)	2						c.(2026-2028)TCA>TCT		leucine rich repeat containing 8 family, member							37.0	34.0	35.0					19																	7965435		2203	4300	6503	SO:0001819	synonymous_variant	80131					integral to membrane		g.chr19:7965435A>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2028A>T	19.37:g.7965435A>T							p.S676S	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			3	2129	+			676					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	c.2028A>T	CCDS12189.1																																																																																				0.632	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		36	63	0	0	0	0	36	63				
MUC16	94025	broad.mit.edu	37	19	9003657	9003657	+	Missense_Mutation	SNP	T	T	G	rs371289881		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:9003657T>G	ENST00000397910.4	-	49	40186	c.39983A>C	c.(39982-39984)aAt>aCt	p.N13328T	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13330	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGTAAAATTGAGGGTGAA	0.483																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39982-39984)AAT>ACT		mucin 16							220.0	181.0	194.0					19																	9003657		2016	4181	6197	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9003657T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39983A>C	19.37:g.9003657T>G	ENSP00000381008:p.Asn13328Thr					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.N145T|MUC16_uc010xki.1_Intron	p.N13328T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			49	40187	-			13330			Extracellular (Potential).|SEA 9.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39983A>C	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.565|9.565	1.119574|1.119574	0.20877|0.20877	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910	.|T	.|0.52057	.|0.68	3.07|3.07	1.99|1.99	0.26369|0.26369	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.65144|0.65144	0.2663|0.2663	M|M	0.87758|0.87758	2.905|2.905	.|.	.|.	.|.	.|P;P	.|0.48294	.|0.889;0.908	.|B;P	.|0.61397	.|0.391;0.888	T|T	0.70063|0.70063	-0.4975|-0.4975	4|8	.|0.87932	.|D	.|0	-27.1047|-27.1047	5.5721|5.5721	0.17202|0.17202	0.0:0.146:0.0:0.854|0.0:0.146:0.0:0.854	.|.	.|20973;13328	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	L|T	168|13328	.|ENSP00000381008:N13328T	.|ENSP00000381008:N13328T	I|N	-|-	1|2	0|0	MUC16|MUC16	8864657|8864657	0.981000|0.981000	0.34729|0.34729	0.528000|0.528000	0.27938|0.27938	0.010000|0.010000	0.07245|0.07245	2.281000|2.281000	0.43452|0.43452	0.315000|0.315000	0.23110|0.23110	0.374000|0.374000	0.22700|0.22700	ATT|AAT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	379	0	0	0	0	33	379				
MUC16	94025	broad.mit.edu	37	19	9069584	9069584	+	Silent	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:9069584A>T	ENST00000397910.4	-	3	18065	c.17862T>A	c.(17860-17862)gcT>gcA	p.A5954A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5956	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACAGGGAGAGCAGAAGTGG	0.488																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(17860-17862)GCT>GCA		mucin 16							102.0	97.0	99.0					19																	9069584		1978	4150	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069584A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17862T>A	19.37:g.9069584A>T							p.A5954A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18066	-			5956			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17862T>A	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		54	107	0	0	0	0	54	107				
GADD45GIP1	90480	broad.mit.edu	37	19	13067806	13067806	+	Missense_Mutation	SNP	G	G	A	rs373898905		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:13067806G>A	ENST00000316939.1	-	1	244	c.221C>T	c.(220-222)tCg>tTg	p.S74L	AC092069.1_ENST00000410560.3_RNA	NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	74					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CGGCCATAACGAACCGGGGAC	0.706																																						uc002mwb.2		NA																	0				ovary(1)|skin(1)	2						c.(220-222)TCG>TTG		growth arrest and DNA-damage-inducible, gamma		G	LEU/SER	0,4354		0,0,2177	12.0	14.0	13.0		221	4.7	0.2	19		13	2,8524		0,2,4261	no	missense	GADD45GIP1	NM_052850.2	145	0,2,6438	AA,AG,GG		0.0235,0.0,0.0155	possibly-damaging	74/223	13067806	2,12878	2177	4263	6440	SO:0001583	missense	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13067806G>A	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.221C>T	19.37:g.13067806G>A	ENSP00000323065:p.Ser74Leu						p.S74L	NM_052850	NP_443082	Q8TAE8	G45IP_HUMAN			1	245	-			74					Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	c.221C>T	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013717	0.35511	0.0	2.35E-4	ENSG00000179271	ENST00000316939	.	.	.	4.7	4.7	0.59300	.	0.362801	0.26816	N	0.022355	T	0.49355	0.1552	L	0.43923	1.385	0.09310	N	1	D	0.76494	0.999	P	0.60173	0.87	T	0.36335	-0.9752	9	0.33141	T	0.24	-24.8655	11.7261	0.51710	0.0:0.3075:0.6925:0.0	.	74	Q8TAE8	G45IP_HUMAN	L	74	.	ENSP00000323065:S74L	S	-	2	0	GADD45GIP1	12928806	0.000000	0.05858	0.172000	0.22920	0.097000	0.18754	0.509000	0.22707	2.166000	0.68216	0.467000	0.42956	TCG		0.706	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		17	26	0	0	0	0	17	26				
RFX1	5989	broad.mit.edu	37	19	14090331	14090331	+	Silent	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:14090331T>A	ENST00000254325.4	-	7	996	c.762A>T	c.(760-762)ccA>ccT	p.P254P		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	254					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGGCGCTTGTGGAGTGGCCT	0.642																																						uc002mxv.2		NA																	0				lung(1)|pancreas(1)	2						c.(760-762)CCA>CCT		regulatory factor X1							52.0	57.0	55.0					19																	14090331		2203	4300	6503	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14090331T>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.762A>T	19.37:g.14090331T>A						RFX1_uc010dzi.2_Silent_p.P254P	p.P254P	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		7	1034	-			254						Silent	SNP	ENST00000254325.4	37	c.762A>T	CCDS12301.1																																																																																				0.642	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		38	120	0	0	0	0	38	120				
ZNF14	7561	broad.mit.edu	37	19	19822966	19822966	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:19822966G>A	ENST00000344099.3	-	4	1262	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGAGAAATGGACCAACTGAA	0.373																																						uc002nnk.1		NA																	0				ovary(3)	3						c.(1123-1125)TCC>TTC		zinc finger protein 14							97.0	96.0	96.0					19																	19822966		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822966G>A	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1124C>T	19.37:g.19822966G>A	ENSP00000340514:p.Ser375Phe						p.S375F	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	1278	-		Renal(1328;0.0474)	375			C2H2-type 10.		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1124C>T	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	9.623	1.134310	0.21123	.	.	ENSG00000105708	ENST00000344099	T	0.08008	3.14	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07234	0.0183	L	0.60012	1.86	0.09310	N	1	P	0.50156	0.932	B	0.40199	0.322	T	0.19582	-1.0301	9	0.10902	T	0.67	.	5.2247	0.15387	0.0:0.0:0.6593:0.3406	.	375	P17017	ZNF14_HUMAN	F	375	ENSP00000340514:S375F	ENSP00000340514:S375F	S	-	2	0	ZNF14	19683966	0.000000	0.05858	0.001000	0.08648	0.878000	0.50629	-0.401000	0.07232	0.907000	0.36646	0.467000	0.42956	TCC		0.373	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		17	116	0	0	0	0	17	116				
MAG	4099	broad.mit.edu	37	19	35800952	35800952	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:35800952G>T	ENST00000392213.3	+	8	1566	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	MAG_ENST00000361922.4_Silent_p.V469V|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Silent_p.V444V	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	469	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCGGCCTCGTGCTCACCAGCA	0.687																																						uc002nyy.1		NA																	0				breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(1405-1407)GTG>GTT		myelin associated glycoprotein isoform a							56.0	51.0	52.0					19																	35800952		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35800952G>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1407G>T	19.37:g.35800952G>T						MAG_uc002nyx.1_Silent_p.V469V|MAG_uc010eds.1_Silent_p.V444V|MAG_uc002nyz.1_Silent_p.V469V	p.V469V	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1556	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	469			Ig-like C2-type 4.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1407G>T	CCDS12455.1																																																																																				0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		44	46	1	0	6.69e-21	1.06e-20	44	46				
APLP1	333	broad.mit.edu	37	19	36362534	36362534	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:36362534C>T	ENST00000221891.4	+	5	750	c.558C>T	c.(556-558)ctC>ctT	p.L186L	APLP1_ENST00000586861.1_Silent_p.L180L|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Silent_p.L147L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	186					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGGGCCTCATCCTGCACG	0.652																																						uc002oce.2		NA																	0				ovary(2)	2						c.(556-558)CTC>CTT		amyloid precursor-like protein 1 isoform 2							112.0	106.0	108.0					19																	36362534		2203	4300	6503	SO:0001819	synonymous_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362534C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.558C>T	19.37:g.36362534C>T						APLP1_uc010xsz.1_Silent_p.L147L|APLP1_uc002ocf.2_Silent_p.L186L|APLP1_uc002ocg.2_Silent_p.L89L|APLP1_uc010xta.1_Silent_p.L180L	p.L186L	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	696	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		186			Extracellular (Potential).		O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	c.558C>T	CCDS32997.1																																																																																				0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		24	92	0	0	0	0	24	92				
POU2F2	5452	broad.mit.edu	37	19	42597981	42597981	+	Splice_Site	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42597981C>G	ENST00000526816.2	-	12	1213	c.1198G>C	c.(1198-1200)Gtt>Ctt	p.V400L	POU2F2_ENST00000529067.1_Splice_Site_p.A384P|POU2F2_ENST00000560398.1_Splice_Site_p.V406L|POU2F2_ENST00000389341.5_Splice_Site_p.V384L|POU2F2_ENST00000529952.1_Splice_Site_p.V400L|POU2F2_ENST00000342301.4_Splice_Site_p.V400L|POU2F2_ENST00000560558.1_Splice_Site_p.V345L|POU2F2_ENST00000533720.1_Splice_Site_p.V384L			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	400	Leucine-zipper.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CCTCCCTGACCTGTTGTGCTC	0.607																																						uc002osp.2		NA																	0				ovary(1)|skin(1)	2						c.(1198-1200)GTT>CTT		POU domain, class 2, transcription factor 2							154.0	141.0	145.0					19																	42597981		2203	4300	6503	SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42597981C>G		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1198+1G>C	19.37:g.42597981C>G						POU2F2_uc002osn.2_Missense_Mutation_p.V384L|POU2F2_uc002oso.2_Missense_Mutation_p.V173L|POU2F2_uc002osq.2_Missense_Mutation_p.A384P|POU2F2_uc002osr.1_Missense_Mutation_p.V400L	p.V400L	NM_002698	NP_002689	P09086	PO2F2_HUMAN			12	1265	-		Prostate(69;0.059)	400			Leucine-zipper.		Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1198G>C	CCDS56095.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.347005|4.347005	0.82022|0.82022	.|.	.|.	ENSG00000028277|ENSG00000028277	ENST00000529067|ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529952	T|D;D;D;D	0.80566|0.83673	-1.39|-1.72;-1.74;-1.75;-1.69	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	.|7739.210000	.|0.00166	.|N	.|0.000000	D|D	0.83119|0.83119	0.5185|0.5185	N|N	0.19112|0.19112	0.55|0.55	0.40388|0.40388	D|D	0.97951|0.97951	D|P;P	0.69078|0.41597	0.997|0.518;0.756	D|B;P	0.68483|0.49752	0.958|0.355;0.621	T|T	0.69143|0.69143	-0.5223|-0.5223	8|9	.|.	.|.	.|.	.|.	15.3645|15.3645	0.74510|0.74510	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	384|400;384	P09086-4|P09086;P09086-3	.|PO2F2_HUMAN;.	P|L	384|384;400;400;384;399;400	ENSP00000437224:A384P|ENSP00000373992:V384L;ENSP00000339369:V400L;ENSP00000437221:V384L;ENSP00000436988:V400L	.|.	A|V	-|-	1|1	0|0	POU2F2|POU2F2	47289821|47289821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.564000|5.564000	0.67359|0.67359	2.236000|2.236000	0.73375|0.73375	0.561000|0.561000	0.74099|0.74099	GCA|GTT		0.607	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Missense_Mutation	15	250	0	0	0	0	15	250				
CIC	23152	broad.mit.edu	37	19	42795409	42795409	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42795409C>A	ENST00000575354.2	+	10	2529	c.2489C>A	c.(2488-2490)cCc>cAc	p.P830H	CIC_ENST00000572681.2_Missense_Mutation_p.P1739H|CIC_ENST00000160740.3_Missense_Mutation_p.P830H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	830	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACATCCTGCCCACGCTGCCC	0.687			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NA		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(2488-2490)CCC>CAC		capicua homolog							15.0	17.0	16.0					19																	42795409		2199	4295	6494	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795409C>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2489C>A	19.37:g.42795409C>A	ENSP00000458663:p.Pro830His						p.P830H	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			10	2529	+		Prostate(69;0.00682)	830			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.2489C>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496627	0.44352	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.16	4.06	0.47325	.	.	.	.	.	T	0.60792	0.2296	L	0.29908	0.895	0.40590	D	0.981479	D	0.71674	0.998	P	0.60789	0.879	T	0.65701	-0.6104	8	0.87932	D	0	-13.465	12.8436	0.57817	0.0:0.8346:0.1654:0.0	.	830	Q96RK0	CIC_HUMAN	H	830	.	ENSP00000160740:P830H	P	+	2	0	CIC	47487249	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.037000	0.64170	2.420000	0.82092	0.561000	0.74099	CCC		0.687	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			14	18	1	0	0.00244969	0.00324258	14	18				
TMEM145	284339	broad.mit.edu	37	19	42827922	42827922	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42827922T>C	ENST00000301204.3	+	14	1423	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	MEGF8_ENST00000251268.6_5'Flank|MEGF8_ENST00000334370.4_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCC	0.706																																						uc002otk.1		NA																	0					0						c.(1381-1383)ATC>ACC		transmembrane protein 145							78.0	66.0	70.0					19																	42827922		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42827922T>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1382T>C	19.37:g.42827922T>C	ENSP00000301204:p.Ile461Thr					MEGF8_uc002otl.3_5'Flank	p.I461T	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			14	1434	+		Prostate(69;0.00682)	461						Missense_Mutation	SNP	ENST00000301204.3	37	c.1382T>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.240414	0.58995	.	.	ENSG00000167619	ENST00000301204	T	0.51071	0.72	4.68	4.68	0.58851	.	0.137856	0.46145	D	0.000306	T	0.55768	0.1941	L	0.48642	1.525	0.53005	D	0.999966	P	0.50156	0.932	P	0.58520	0.84	T	0.54583	-0.8272	10	0.41790	T	0.15	-26.1249	12.3773	0.55287	0.0:0.0:0.0:1.0	.	461	Q8NBT3	TM145_HUMAN	T	461	ENSP00000301204:I461T	ENSP00000301204:I461T	I	+	2	0	TMEM145	47519762	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.882000	0.63121	1.868000	0.54150	0.528000	0.53228	ATC		0.706	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		4	104	0	0	0	0	4	104				
ZNF404	342908	broad.mit.edu	37	19	44376785	44376785	+	Silent	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:44376785T>C	ENST00000587539.1	-	3	1580	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	ZNF404_ENST00000324394.6_Silent_p.E525E	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CCTTACCACATTCTTTGCATT	0.388																																						uc002oxs.3		NA																	0					0						c.(1570-1572)GAA>GAG		zinc finger protein 404							59.0	62.0	61.0					19																	44376785		2127	4264	6391	SO:0001819	synonymous_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44376785T>C	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1581A>G	19.37:g.44376785T>C							p.E524E	NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN			2	1581	-		Prostate(69;0.0352)	527			C2H2-type 15.		A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	c.1572A>G	CCDS59394.1																																																																																				0.388	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		19	15	0	0	0	0	19	15				
KLK13	26085	broad.mit.edu	37	19	51563831	51563831	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:51563831C>A	ENST00000595793.1	-	2	140	c.98G>T	c.(97-99)aGt>aTt	p.S33I	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Missense_Mutation_p.S33I|KLK13_ENST00000596955.1_Missense_Mutation_p.S33I	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	33					protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GAGAAACCCACTGGTCCCATT	0.582																																						uc002pvn.2		NA																	0					0						c.(97-99)AGT>ATT		kallikrein 13 precursor							105.0	109.0	108.0					19																	51563831		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563831C>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.98G>T	19.37:g.51563831C>A	ENSP00000470555:p.Ser33Ile					KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.S33I|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.S33I	p.S33I	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	2	141	-		all_neural(266;0.026)	33					A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.98G>T	CCDS12822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.499|7.499	0.652226|0.652226	0.14580|0.14580	.|.	.|.	ENSG00000167759|ENSG00000167759	ENST00000376799|ENST00000156476	.|D	.|0.82526	.|-1.62	4.18|4.18	-5.58|-5.58	0.02512|0.02512	.|Peptidase cysteine/serine, trypsin-like (1);	.|1.029870	.|0.07700	.|N	.|0.940181	T|T	0.75243|0.75243	0.3823|0.3823	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.37663	.|0.41;0.274;0.604	.|B;B;P	.|0.49708	.|0.146;0.211;0.62	T|T	0.71718|0.71718	-0.4508|-0.4508	6|10	0.87932|0.87932	D|D	0|0	.|.	12.2988|12.2988	0.54862|0.54862	0.0:0.1818:0.0:0.8182|0.0:0.1818:0.0:0.8182	.|.	.|33;33;33	.|Q86VI7;B5BUM9;Q9UKR3	.|.;.;KLK13_HUMAN	H|I	34|33	.|ENSP00000156476:S33I	ENSP00000365995:Q34H|ENSP00000156476:S33I	Q|S	-|-	3|2	2|0	KLK13|KLK13	56255643|56255643	0.000000|0.000000	0.05858|0.05858	0.046000|0.046000	0.18839|0.18839	0.275000|0.275000	0.26752|0.26752	-1.660000|-1.660000	0.01974|0.01974	-1.138000|-1.138000	0.02884|0.02884	-0.888000|-0.888000	0.02935|0.02935	CAG|AGT		0.582	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		69	85	1	0	1.34e-20	2.11e-20	69	85				
ZNF615	284370	broad.mit.edu	37	19	52497539	52497539	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:52497539C>T	ENST00000602063.1	-	6	1139	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ZNF615_ENST00000598071.1_Missense_Mutation_p.E275K|ZNF615_ENST00000391795.3_Missense_Mutation_p.E269K|ZNF615_ENST00000376716.5_Missense_Mutation_p.E264K|ZNF615_ENST00000594083.1_Missense_Mutation_p.E275K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTGTCACATTCAGTGCATTCA	0.403																																						uc002pye.1		NA																	0				ovary(4)|skin(1)	5						c.(790-792)GAA>AAA		zinc finger protein 615							167.0	152.0	157.0					19																	52497539		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497539C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.790G>A	19.37:g.52497539C>T	ENSP00000473089:p.Glu264Lys					ZNF615_uc002pyf.1_Missense_Mutation_p.E275K|ZNF615_uc002pyg.1_Missense_Mutation_p.E156K|ZNF615_uc002pyh.1_Missense_Mutation_p.E275K|ZNF615_uc010epi.1_Missense_Mutation_p.E271K|ZNF615_uc010ydg.1_Missense_Mutation_p.E269K	p.E264K	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1082	-		all_neural(266;0.117)	264			C2H2-type 3.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.790G>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	8.606	0.888020	0.17540	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07327	3.2;3.2	3.42	-0.339	0.12647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.006;0.003;0.003;0.006	T	0.35051	-0.9804	9	0.54805	T	0.06	.	5.6902	0.17825	0.1554:0.647:0.0:0.1976	.	269;271;275;264	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	K	264;274;269;274	ENSP00000365906:E264K;ENSP00000375672:E269K	ENSP00000347019:E274K	E	-	1	0	ZNF615	57189351	0.000000	0.05858	0.030000	0.17652	0.354000	0.29330	0.364000	0.20325	0.260000	0.21731	-0.300000	0.09419	GAA		0.403	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		16	154	0	0	0	0	16	154				
ZNF836	162962	broad.mit.edu	37	19	52659425	52659426	+	Missense_Mutation	DNP	CC	CC	AA	rs201510216		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:52659425_52659426CC>AA	ENST00000322146.8	-	5	2031_2032	c.1510_1511GG>TT	c.(1510-1512)GGt>TTt	p.G504F	ZNF836_ENST00000597252.1_Missense_Mutation_p.G504F|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAAGGCTTTACCACATTTATCA	0.406																																						uc010ydi.1		NA																	0					0						c.(1510-1512)GGT>TTT		zinc finger protein 836																																				SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659425_52659426CC>AA	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1510_1511delinsAA	19.37:g.52659425_52659426delinsAA	ENSP00000325038:p.Gly504Phe					ZNF836_uc010ydj.1_Missense_Mutation_p.G504F	p.G504F	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	1884_1885	-			504			C2H2-type 11.			Missense_Mutation	DNP	ENST00000322146.8	37	c.1510_1511GG>TT	CCDS46162.1																																																																																				0.406	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		67	64	0	0	0	0	67	64				
NLRP12	91662	broad.mit.edu	37	19	54318203	54318203	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:54318203G>C	ENST00000324134.6	-	2	497	c.329C>G	c.(328-330)tCa>tGa	p.S110*	NLRP12_ENST00000351894.4_Nonsense_Mutation_p.S110*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.S110*|NLRP12_ENST00000345770.5_Nonsense_Mutation_p.S110*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.S110*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	110					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCATGTTGACTGGTTCCC	0.517																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(328-330)TCA>TGA		NLR family, pyrin domain containing 12 isoform							133.0	120.0	125.0					19																	54318203		2203	4300	6503	SO:0001587	stop_gained	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54318203G>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.329C>G	19.37:g.54318203G>C	ENSP00000319377:p.Ser110*					NLRP12_uc002qci.3_Nonsense_Mutation_p.S110*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.S110*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Nonsense_Mutation_p.S110*	p.S110*	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	549	-	Ovarian(34;0.19)		110					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Nonsense_Mutation	SNP	ENST00000324134.6	37	c.329C>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651093	0.88056	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	.	.	.	3.62	1.5	0.22942	.	1.119910	0.07172	U	0.852570	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	5.4127	0.16356	0.2564:0.0:0.7436:0.0	.	.	.	.	X	110	.	ENSP00000319377:S110X	S	-	2	0	NLRP12	59010015	0.194000	0.23325	0.022000	0.16811	0.107000	0.19398	0.962000	0.29280	0.511000	0.28236	0.655000	0.94253	TCA		0.517	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		15	127	0	0	0	0	15	127				
LILRA1	11024	broad.mit.edu	37	19	55106848	55106848	+	Silent	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:55106848C>A	ENST00000251372.3	+	5	824	c.642C>A	c.(640-642)ctC>ctA	p.L214L	LILRA1_ENST00000453777.1_Silent_p.L214L|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	214	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCAGTGATCTCCTGGAGCTCC	0.587																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(640-642)CTC>CTA		leukocyte immunoglobulin-like receptor,							124.0	136.0	132.0					19																	55106848		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106848C>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.642C>A	19.37:g.55106848C>A						LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.L214L	p.L214L	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	824	+			214			Ig-like C2-type 2.|Extracellular (Potential).		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.642C>A	CCDS12901.1																																																																																				0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		13	205	1	0	6.32e-08	8.97e-08	13	205				
NTSR2	23620	broad.mit.edu	37	2	11809734	11809734	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:11809734C>A	ENST00000306928.5	-	1	556	c.522G>T	c.(520-522)atG>atT	p.M174I		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	174					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCTTCTGCCCCATGATGACGG	0.721																																						uc002rbq.3		NA																	0					0						c.(520-522)ATG>ATT		neurotensin receptor 2	Levocabastine(DB01106)						6.0	7.0	7.0					2																	11809734		1892	3766	5658	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11809734C>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.522G>T	2.37:g.11809734C>A	ENSP00000303686:p.Met174Ile						p.M174I	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	596	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		174			Helical; Name=4; (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.522G>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792258	0.50102	.	.	ENSG00000169006	ENST00000306928	T	0.70869	-0.52	3.85	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.680225	0.13917	N	0.353802	T	0.60470	0.2271	L	0.42487	1.325	0.34383	D	0.693328	B	0.18166	0.026	B	0.16289	0.015	T	0.63620	-0.6596	10	0.62326	D	0.03	-17.238	8.6639	0.34110	0.1707:0.6641:0.1652:0.0	.	174	O95665	NTR2_HUMAN	I	174	ENSP00000303686:M174I	ENSP00000303686:M174I	M	-	3	0	NTSR2	11727185	1.000000	0.71417	0.144000	0.22314	0.890000	0.51754	2.857000	0.48349	0.583000	0.29574	0.555000	0.69702	ATG		0.721	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			19	14	1	0	2.94e-08	4.2e-08	19	14				
ITSN2	50618	broad.mit.edu	37	2	24507701	24507701	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:24507701C>G	ENST00000355123.4	-	17	2318	c.1875G>C	c.(1873-1875)atG>atC	p.M625I	ITSN2_ENST00000361999.3_Intron|ITSN2_ENST00000406921.3_Missense_Mutation_p.M625I	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	625					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGTCATCCATATTCCCAC	0.328																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1873-1875)ATG>ATC		intersectin 2 isoform 1							113.0	112.0	112.0					2																	24507701		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24507701C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1875G>C	2.37:g.24507701C>G	ENSP00000347244:p.Met625Ile					ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.2_Missense_Mutation_p.M625I	p.M625I	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			17	2133	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		625			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1875G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159477	0.38119	.	.	ENSG00000198399	ENST00000355123;ENST00000406921	T;T	0.58060	0.36;0.8	5.5	5.5	0.81552	.	.	.	.	.	T	0.34454	0.0898	N	0.08118	0	0.80722	D	1	B;B	0.22480	0.038;0.07	B;B	0.18263	0.02;0.021	T	0.17684	-1.0361	9	0.13470	T	0.59	.	19.7839	0.96430	0.0:1.0:0.0:0.0	.	625;625	Q9NZM3-3;Q9NZM3	.;ITSN2_HUMAN	I	625	ENSP00000347244:M625I;ENSP00000384499:M625I	ENSP00000347244:M625I	M	-	3	0	ITSN2	24361205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.381000	0.66208	2.756000	0.94617	0.655000	0.94253	ATG		0.328	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		34	50	0	0	0	0	34	50				
UGP2	7360	broad.mit.edu	37	2	64085024	64085024	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:64085024G>T	ENST00000337130.5	+	3	685	c.209G>T	c.(208-210)gGg>gTg	p.G70V	UGP2_ENST00000445915.2_Missense_Mutation_p.G79V|UGP2_ENST00000467648.2_Missense_Mutation_p.G59V|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000394417.2_Missense_Mutation_p.G59V	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	70					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAAGAAAAGGGGCCTTCTGTG	0.403																																						uc002scm.2		NA																	0					0						c.(208-210)GGG>GTG		UDP-glucose pyrophosphorylase 2 isoform a							139.0	164.0	155.0					2																	64085024		2202	4299	6501	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64085024G>T		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.209G>T	2.37:g.64085024G>T	ENSP00000338703:p.Gly70Val					UGP2_uc002scl.2_Missense_Mutation_p.G59V|UGP2_uc010ypx.1_Missense_Mutation_p.G79V	p.G70V	NM_006759	NP_006750	Q16851	UGPA_HUMAN			3	515	+			70					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.209G>T	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872515	0.91587	.	.	ENSG00000169764	ENST00000394417;ENST00000482668;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.87827	2.91	0.80722	D	1	D;D	0.67145	0.989;0.996	P;D	0.65443	0.899;0.935	T	0.51880	-0.8649	10	0.72032	D	0.01	-52.8355	19.3923	0.94587	0.0:0.0:1.0:0.0	.	79;70	E7EUC7;Q16851	.;UGPA_HUMAN	V	59;59;59;70;59;62;79;59;59;59	ENSP00000377939:G59V;ENSP00000419548:G59V;ENSP00000420793:G59V;ENSP00000338703:G70V;ENSP00000419442:G59V;ENSP00000420131:G62V;ENSP00000411803:G79V;ENSP00000419335:G59V;ENSP00000420342:G59V;ENSP00000419238:G59V	ENSP00000338703:G70V	G	+	2	0	UGP2	63938528	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.226000	0.89785	2.882000	0.98803	0.655000	0.94253	GGG		0.403	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		118	271	1	0	3.21e-66	5.47e-66	118	271				
ANKRD53	79998	broad.mit.edu	37	2	71206951	71206951	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:71206951G>T	ENST00000360589.3	+	3	612	c.578G>T	c.(577-579)tGc>tTc	p.C193F	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_Missense_Mutation_p.C193F|ANKRD53_ENST00000457410.1_Missense_Mutation_p.C159F|ANKRD53_ENST00000441349.1_Missense_Mutation_p.C159F	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	193										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GCCCTCCCCTGCATCTACTAC	0.602																																						uc002shl.3		NA																	0					0						c.(577-579)TGC>TTC		ankyrin repeat domain 53 isoform a							136.0	92.0	107.0					2																	71206951		2203	4300	6503	SO:0001583	missense	79998							g.chr2:71206951G>T	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.578G>T	2.37:g.71206951G>T	ENSP00000353796:p.Cys193Phe					ANKRD53_uc002shk.3_Missense_Mutation_p.C193F|ANKRD53_uc002shm.3_Missense_Mutation_p.C159F	p.C193F	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN			3	779	+			193			ANK 2.		Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	c.578G>T	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027016	0.75390	.	.	ENSG00000144031	ENST00000272421;ENST00000441349;ENST00000457410;ENST00000360589	T;T;T;T	0.65549	-0.16;-0.15;-0.16;-0.16	5.16	5.16	0.70880	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.73900	0.3646	L	0.51853	1.615	0.51012	D	0.999906	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.75258	-0.3381	10	0.62326	D	0.03	-37.0804	14.5317	0.67931	0.0:0.0:1.0:0.0	.	159;193;193	C9JQK2;Q8N9V6;Q8N9V6-2	.;ANR53_HUMAN;.	F	193;159;159;193	ENSP00000272421:C193F;ENSP00000388883:C159F;ENSP00000407004:C159F;ENSP00000353796:C193F	ENSP00000272421:C193F	C	+	2	0	ANKRD53	71060459	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.594000	0.67557	2.579000	0.87056	0.650000	0.86243	TGC		0.602	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		36	76	1	0	4.39e-29	7.17e-29	36	76				
REG1A	5967	broad.mit.edu	37	2	79349251	79349251	+	Splice_Site	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:79349251G>T	ENST00000233735.1	+	4	424	c.321G>T	c.(319-321)aaG>aaT	p.K107N		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	107	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488																																						uc002snz.2		NA																	0					0						c.(319-321)AAG>AAT		regenerating islet-derived 1 alpha precursor							97.0	88.0	91.0					2																	79349251		2203	4300	6503	SO:0001630	splice_region_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349251G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.321+1G>T	2.37:g.79349251G>T						REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.K107N	p.K107N	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	424	+			107			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.321G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	11.58	1.679781	0.29783	.	.	ENSG00000115386	ENST00000233735	T	0.18657	2.2	3.51	1.54	0.23209	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.662503	0.12429	N	0.469731	T	0.11623	0.0283	N	0.20445	0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16571	-1.0398	10	0.14656	T	0.56	.	8.3452	0.32268	0.0:0.0:0.6055:0.3945	.	107	P05451	REG1A_HUMAN	N	107	ENSP00000233735:K107N	ENSP00000233735:K107N	K	+	3	2	REG1A	79202759	0.122000	0.22280	0.843000	0.33291	0.751000	0.42716	0.237000	0.17985	0.231000	0.21079	0.563000	0.77884	AAG		0.488	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	Missense_Mutation	41	80	1	0	1.97e-18	3.04e-18	41	80				
REG3A	5068	broad.mit.edu	37	2	79386513	79386513	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:79386513G>T	ENST00000409839.3	-	2	55	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	REG3A_ENST00000305165.2_Missense_Mutation_p.L7M|REG3A_ENST00000393878.1_Missense_Mutation_p.L7M|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	7					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACACTGGGCAGGGCCATGGGA	0.532																																						uc002sod.1		NA																	0				skin(1)	1						c.(19-21)CTG>ATG		pancreatitis-associated protein precursor							179.0	130.0	146.0					2																	79386513		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79386513G>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.19C>A	2.37:g.79386513G>T	ENSP00000386630:p.Leu7Met					REG3A_uc002soe.1_Missense_Mutation_p.L7M|REG3A_uc002sof.1_Missense_Mutation_p.L7M	p.L7M	NM_138938	NP_620355	Q06141	REG3A_HUMAN			1	274	-			7						Missense_Mutation	SNP	ENST00000409839.3	37	c.19C>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476828	0.44044	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.14893	2.47;2.47;2.47	3.87	-1.44	0.08856	.	0.193674	0.25789	N	0.028292	T	0.18923	0.0454	M	0.84948	2.725	0.09310	N	1	P	0.48911	0.917	B	0.44278	0.445	T	0.14337	-1.0476	10	0.48119	T	0.1	.	0.552	0.00664	0.33:0.1729:0.3205:0.1766	.	7	Q06141	REG3A_HUMAN	M	7	ENSP00000386630:L7M;ENSP00000377456:L7M;ENSP00000304311:L7M	ENSP00000304311:L7M	L	-	1	2	REG3A	79240021	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.087000	0.11215	-0.308000	0.08792	0.603000	0.83216	CTG		0.532	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		24	83	1	0	1.38e-23	2.23e-23	24	83				
CTNNA2	1496	broad.mit.edu	37	2	80874994	80874994	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:80874994C>A	ENST00000402739.4	+	18	2864	c.2859C>A	c.(2857-2859)ttC>ttA	p.F953L	CTNNA2_ENST00000343114.3_Missense_Mutation_p.F584L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.F905L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.F939L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.F905L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.F905L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.F860L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	953					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGATTCCTTCTAGGACGATA	0.378																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2857-2859)TTC>TTA		catenin, alpha 2 isoform 1							71.0	70.0	70.0					2																	80874994		1815	4073	5888	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874994C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2859C>A	2.37:g.80874994C>A	ENSP00000384638:p.Phe953Leu					CTNNA2_uc010yse.1_Missense_Mutation_p.F905L|CTNNA2_uc010ysf.1_Missense_Mutation_p.F905L|CTNNA2_uc010ysg.1_Missense_Mutation_p.F860L|CTNNA2_uc010ysi.1_Missense_Mutation_p.F537L|CTNNA2_uc010ysj.1_Missense_Mutation_p.F234L	p.F953L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			18	2864	+			953					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2859C>A		.	.	.	.	.	.	.	.	.	.	C	14.42	2.529503	0.44969	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.43294	1.15;1.15;1.07;0.95;1.15;1.1;2.32	5.94	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.14661	0.345	0.35749	D	0.819297	B;B;B;B	0.18310	0.025;0.027;0.016;0.005	B;B;B;B	0.22880	0.042;0.01;0.019;0.012	T	0.16660	-1.0395	9	.	.	.	.	12.6592	0.56803	0.0:0.7887:0.0:0.2113	.	537;953;860;905	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	905;905;939;953;905;860;584	ENSP00000418191:F905L;ENSP00000419295:F905L;ENSP00000355398:F939L;ENSP00000384638:F953L;ENSP00000444675:F905L;ENSP00000441705:F860L;ENSP00000341500:F584L	.	F	+	3	2	CTNNA2	80728505	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.265000	0.43311	0.828000	0.34709	0.650000	0.86243	TTC		0.378	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		74	147	1	0	9.88e-16	1.51e-15	74	147				
FABP1	2168	broad.mit.edu	37	2	88424028	88424028	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:88424028G>A	ENST00000295834.3	-	3	416	c.318C>T	c.(316-318)ggC>ggT	p.G106G	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_Silent_p.G106G	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	106					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGATTATGTCGCCGTTGAGTT	0.522																																						uc002sst.1		NA																	0					0						c.(316-318)GGC>GGT		fatty acid binding protein 1, liver							184.0	138.0	153.0					2																	88424028		2203	4300	6503	SO:0001819	synonymous_variant	2168				organ morphogenesis			g.chr2:88424028G>A	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.318C>T	2.37:g.88424028G>A						FABP1_uc002ssu.2_Silent_p.G106G	p.G106G	NM_001443	NP_001434	P07148	FABPL_HUMAN			3	360	-			106						Silent	SNP	ENST00000295834.3	37	c.318C>T	CCDS2001.1																																																																																				0.522	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		40	75	0	0	0	0	40	75				
MITD1	129531	broad.mit.edu	37	2	99787024	99787024	+	Missense_Mutation	SNP	G	G	A	rs144672860		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:99787024G>A	ENST00000289359.2	-	5	645	c.569C>T	c.(568-570)tCt>tTt	p.S190F	MITD1_ENST00000466880.1_5'UTR|MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	190	Important for association with membranes.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						ATGTATTGAAGAAGAGTATTG	0.333																																						uc002szs.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(568-570)TCT>TTT		MIT, microtubule interacting and transport,		G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	158.0	167.0	164.0		569	5.5	1.0	2	dbSNP_134	164	0,8600		0,0,4300	no	missense	MITD1	NM_138798.1	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	190/250	99787024	1,13005	2203	4300	6503	SO:0001583	missense	129531				protein transport	late endosome membrane		g.chr2:99787024G>A	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.569C>T	2.37:g.99787024G>A	ENSP00000289359:p.Ser190Phe					MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron	p.S190F	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN			5	617	-			190					Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	c.569C>T	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183032	0.78677	2.27E-4	0.0	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	D;D;T	0.92858	-3.12;-3.12;0.75	5.54	5.54	0.83059	.	0.053841	0.85682	D	0.000000	D	0.96093	0.8727	M	0.82923	2.615	0.80722	D	1	D	0.71674	0.998	D	0.65010	0.931	D	0.96356	0.9262	10	0.72032	D	0.01	-8.7847	18.4732	0.90782	0.0:0.0:1.0:0.0	.	190	Q8WV92	MITD1_HUMAN	F	172;190;161	ENSP00000413371:S172F;ENSP00000289359:S190F;ENSP00000387316:S161F	ENSP00000289359:S190F	S	-	2	0	MITD1	99153456	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	8.847000	0.92166	2.605000	0.88082	0.643000	0.83706	TCT		0.333	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		105	264	0	0	0	0	105	264				
DPP10	57628	broad.mit.edu	37	2	116257182	116257182	+	Splice_Site	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:116257182T>A	ENST00000410059.1	+	4	846		c.e4+2		DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000488208.1_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000310323.8_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACAACTTTTGTAAGTAATGAA	0.313																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.e4+2		dipeptidyl peptidase 10 isoform long							84.0	83.0	83.0					2																	116257182		2202	4297	6499	SO:0001630	splice_region_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116257182T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.366+2T>A	2.37:g.116257182T>A						DPP10_uc002tlb.1_Splice_Site_p.F72_splice|DPP10_uc002tlc.1_Splice_Site_p.F118_splice|DPP10_uc002tle.2_Splice_Site_p.F126_splice|DPP10_uc002tlf.1_Splice_Site_p.F115_splice	p.F122_splice	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			4	823	+								A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	ENST00000410059.1	37	c.366_splice	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932455	0.73442	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1696	0.59591	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	115973652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.132000	0.64758	2.238000	0.73509	0.533000	0.62120	.		0.313	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Intron	21	37	0	0	0	0	21	37				
IMP4	92856	broad.mit.edu	37	2	131100699	131100699	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:131100699G>T	ENST00000259239.3	+	2	752	c.44G>T	c.(43-45)cGc>cTc	p.R15L	CCDC115_ENST00000409127.1_5'Flank|CCDC115_ENST00000259229.2_5'Flank|CCDC115_ENST00000437688.2_5'Flank|IMP4_ENST00000409935.1_Missense_Mutation_p.R15L	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	15	Arg-rich.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					TACCTGTACCGCAAGGCCCGG	0.736																																						uc002tra.1		NA																	0				central_nervous_system(2)	2						c.(43-45)CGC>CTC		IMP4, U3 small nucleolar ribonucleoprotein,							4.0	6.0	5.0					2																	131100699		2024	3994	6018	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131100699G>T	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.44G>T	2.37:g.131100699G>T	ENSP00000259239:p.Arg15Leu					CCDC115_uc002tqw.1_5'Flank|CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqx.2_5'Flank|CCDC115_uc002tqy.1_5'Flank|CCDC115_uc002tqz.1_5'Flank	p.R15L	NM_033416	NP_219484	Q96G21	IMP4_HUMAN			2	61	+	Colorectal(110;0.1)		15			Arg-rich.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.44G>T	CCDS2160.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442353	0.83993	.	.	ENSG00000136718	ENST00000259239;ENST00000409935	T;T	0.50277	0.75;0.76	4.86	3.98	0.46160	.	0.102016	0.64402	D	0.000004	T	0.48259	0.1490	M	0.84082	2.675	0.54753	D	0.999984	P	0.36199	0.543	B	0.30495	0.116	T	0.56353	-0.7993	10	0.87932	D	0	-11.3796	11.0227	0.47728	0.0928:0.0:0.9072:0.0	.	15	Q96G21	IMP4_HUMAN	L	15	ENSP00000259239:R15L;ENSP00000386411:R15L	ENSP00000259239:R15L	R	+	2	0	IMP4	130817169	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.006000	0.88564	1.193000	0.43086	0.436000	0.28706	CGC		0.736	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		6	12	1	0	0.000157383	0.0002127	6	12				
AMER3	205147	broad.mit.edu	37	2	131521734	131521734	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:131521734C>T	ENST00000423981.1	+	2	2199	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	AMER3_ENST00000321420.4_Missense_Mutation_p.P697S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	697					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CGCATGGCCTCCAAGGCAAGA	0.642																																						uc002trw.2		NA																	0				pancreas(2)|ovary(1)	3						c.(2089-2091)CCA>TCA		hypothetical protein LOC205147							23.0	24.0	24.0					2																	131521734		2201	4300	6501	SO:0001583	missense	205147							g.chr2:131521734C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2089C>T	2.37:g.131521734C>T	ENSP00000392700:p.Pro697Ser					FAM123C_uc010fmv.2_Missense_Mutation_p.P697S|FAM123C_uc010fms.1_Missense_Mutation_p.P697S|FAM123C_uc010fmt.1_Missense_Mutation_p.P697S|FAM123C_uc010fmu.1_Missense_Mutation_p.P697S	p.P697S	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2279	+	Colorectal(110;0.1)		697					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.2089C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	c	0.892	-0.725187	0.03158	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.49432	0.78;0.78	4.61	0.365	0.16131	.	0.816316	0.10278	N	0.693886	T	0.23210	0.0561	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.24190	-1.0167	10	0.07990	T	0.79	-7.6317	1.4505	0.02374	0.1722:0.4659:0.1676:0.1944	.	697	Q8N944	F123C_HUMAN	S	697	ENSP00000314914:P697S;ENSP00000392700:P697S	ENSP00000314914:P697S	P	+	1	0	FAM123C	131238204	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.549000	0.23329	0.139000	0.18822	-0.355000	0.07637	CCA		0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		18	32	0	0	0	0	18	32				
LRP1B	53353	broad.mit.edu	37	2	141032165	141032165	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:141032165C>A	ENST00000389484.3	-	85	13941	c.12970G>T	c.(12970-12972)Gtg>Ttg	p.V4324L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4324	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V4324L(2)		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)		TGGTGGCACACGTCTAGGAAA	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12970-12972)GTG>TTG		low density lipoprotein-related protein 1B							93.0	75.0	81.0					2																	141032165		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032165C>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.12970G>T	2.37:g.141032165C>A	ENSP00000374135:p.Val4324Leu	TSP Lung(27;0.18)					p.V4324L	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)	85	13942	-		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)	4324			Extracellular (Potential).|EGF-like 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12970G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	4.653	0.121393	0.08881	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90324	-2.65	5.36	5.36	0.76844	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.078506	0.50627	U	0.000106	D	0.83843	0.5342	N	0.22421	0.69	0.36749	D	0.882662	B	0.29936	0.262	B	0.24541	0.054	D	0.83392	0.0018	10	0.26408	T	0.33	.	17.2537	0.87049	0.0:1.0:0.0:0.0	.	4324	Q9NZR2	LRP1B_HUMAN	L	4324;4262	ENSP00000374135:V4324L	ENSP00000374135:V4324L	V	-	1	0	LRP1B	140748635	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	2.387000	0.44389	2.499000	0.84300	0.655000	0.94253	GTG		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		21	36	1	0	0.000132079	0.000179015	21	36				
ARHGAP15	55843	broad.mit.edu	37	2	143986215	143986215	+	Missense_Mutation	SNP	A	A	G	rs150643555		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:143986215A>G	ENST00000295095.6	+	5	529	c.362A>G	c.(361-363)aAg>aGg	p.K121R	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.K121R	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	121	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGAATCCAAGCAACAGGCT	0.299																																						uc002tvm.3		NA																	0				ovary(1)|skin(1)	2						c.(361-363)AAG>AGG		ARHGAP15		A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	83.0	88.0	86.0		362	5.6	1.0	2	dbSNP_134	86	0,8592		0,0,4296	no	missense	ARHGAP15	NM_018460.3	26	0,1,6498	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	121/476	143986215	1,12997	2203	4296	6499	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143986215A>G	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.362A>G	2.37:g.143986215A>G	ENSP00000295095:p.Lys121Arg					ARHGAP15_uc010zbl.1_Missense_Mutation_p.K121R	p.K121R	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	5	513	+			121			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.362A>G	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413882	0.83449	2.27E-4	0.0	ENSG00000075884	ENST00000409869;ENST00000295095	T;T	0.77750	-1.12;-1.12	5.6	5.6	0.85130	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.058471	0.64402	D	0.000003	D	0.84497	0.5485	M	0.66378	2.025	0.49687	D	0.99981	D;D	0.61080	0.989;0.988	P;P	0.62298	0.9;0.893	T	0.82971	-0.0192	10	0.29301	T	0.29	.	14.3603	0.66766	1.0:0.0:0.0:0.0	.	121;121	B4E0R3;Q53QZ3	.;RHG15_HUMAN	R	121	ENSP00000386560:K121R;ENSP00000295095:K121R	ENSP00000295095:K121R	K	+	2	0	ARHGAP15	143702685	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.727000	0.68523	2.123000	0.65237	0.528000	0.53228	AAG		0.299	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		37	62	0	0	0	0	37	62				
ARL6IP6	151188	broad.mit.edu	37	2	153573823	153573823	+	5'Flank	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:153573823C>T	ENST00000326446.5	+	0	0				PRPF40A_ENST00000410080.1_Intron|PRPF40A_ENST00000486100.1_Intron	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						TCTCCGCTCCCCGTCCCCAGG	0.657																																						uc002tyi.2		NA																	0					0						c.(85-87)GGG>GAG		formin binding protein 3							16.0	20.0	19.0					2																	153573823		1975	4168	6143	SO:0001631	upstream_gene_variant	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153573823C>T	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901		2.37:g.153573823C>T	Exception_encountered					ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Intron|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Intron|PRPF40A_uc002tyl.1_Missense_Mutation_p.G29E	p.G29E	NM_017892	NP_060362	O75400	PR40A_HUMAN			1	99	-			29					B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	c.86G>A	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608949	0.87258	.	.	ENSG00000196504	ENST00000356402;ENST00000545856;ENST00000493468	.	.	.	5.3	4.42	0.53409	.	0.219743	0.32002	N	0.006732	T	0.49745	0.1575	.	.	.	0.80722	D	1	P	0.35908	0.527	B	0.37451	0.25	T	0.45498	-0.9257	8	0.33940	T	0.23	.	12.0279	0.53382	0.0:0.8263:0.1737:0.0	.	29	O75400-3	.	E	29;29;22	.	ENSP00000348770:G29E	G	-	2	0	PRPF40A	153282069	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.185000	0.32065	1.206000	0.43276	0.655000	0.94253	GGG		0.657	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		10	32	0	0	0	0	10	32				
SCN1A	6323	broad.mit.edu	37	2	166847776	166847776	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:166847776A>T	ENST00000303395.4	-	26	6008	c.6009T>A	c.(6007-6009)gaT>gaA	p.D2003E	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1992E|SCN1A_ENST00000423058.2_Missense_Mutation_p.D2003E|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1975E			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	2003					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGCTTTTTCATCTTTGCCTT	0.383																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(5974-5976)GAT>GAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						83.0	78.0	80.0					2																	166847776		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166847776A>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.6009T>A	2.37:g.166847776A>T	ENSP00000303540:p.Asp2003Glu						p.D1992E	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5994	-			2003					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5976T>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	0.143	-1.100281	0.01843	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95588	-3.75;-3.75;-3.7;-3.68	5.67	1.99	0.26369	.	0.292074	0.29715	N	0.011397	D	0.82323	0.5012	N	0.01761	-0.735	0.28055	N	0.933228	B	0.14012	0.009	B	0.16722	0.016	T	0.71381	-0.4610	10	0.02654	T	1	.	8.7966	0.34883	0.7741:0.0:0.2259:0.0	.	1992	P35498-2	.	E	2003;2003;1992;1975	ENSP00000407030:D2003E;ENSP00000303540:D2003E;ENSP00000364554:D1992E;ENSP00000386312:D1975E	ENSP00000303540:D2003E	D	-	3	2	SCN1A	166556022	0.904000	0.30761	0.998000	0.56505	0.947000	0.59692	0.558000	0.23469	0.101000	0.17610	-0.425000	0.05940	GAT		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		28	43	0	0	0	0	28	43				
SCN9A	6335	broad.mit.edu	37	2	167056097	167056097	+	Silent	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:167056097A>G	ENST00000409435.1	-	26	5051	c.5052T>C	c.(5050-5052)ttT>ttC	p.F1684F	SCN9A_ENST00000409672.1_Silent_p.F1673F|SCN9A_ENST00000375387.4_Silent_p.F1685F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.F1685F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1684					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTGTTGCCAAAGGTCTCAA	0.423																																						uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(5017-5019)TTT>TTC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						173.0	179.0	177.0					2																	167056097		2203	4300	6503	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056097A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5052T>C	2.37:g.167056097A>G						uc002udp.2_Intron	p.F1673F	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5360	-			1684			IV.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.5019T>C	CCDS46441.1																																																																																				0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		97	277	0	0	0	0	97	277				
XIRP2	129446	broad.mit.edu	37	2	168103763	168103763	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:168103763C>A	ENST00000409195.1	+	9	5950	c.5861C>A	c.(5860-5862)gCa>gAa	p.A1954E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1732E|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1954E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1779					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGTGATGGCAGGATCCTCG	0.423																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(5860-5862)GCA>GAA		xin actin-binding repeat containing 2 isoform 1							47.0	44.0	45.0					2																	168103763		1867	4110	5977	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103763C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5861C>A	2.37:g.168103763C>A	ENSP00000386840:p.Ala1954Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A1779E|XIRP2_uc010fpq.2_Missense_Mutation_p.A1732E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.A1954E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5879	+			1779					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5861C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.365823	0.00015	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02345	4.33;4.33;4.33	4.9	-9.8	0.00490	.	1.858410	0.02377	N	0.078426	T	0.01421	0.0046	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.49113	-0.8973	10	0.02654	T	1	6.736	1.1975	0.01877	0.2033:0.2691:0.312:0.2156	.	1779;1779;1732	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	1954;1954;1732	ENSP00000386840:A1954E;ENSP00000295237:A1954E;ENSP00000387255:A1732E	ENSP00000295237:A1954E	A	+	2	0	XIRP2	167812009	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.490000	0.06482	-2.674000	0.00412	-1.340000	0.01251	GCA		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		19	66	1	0	0.000132079	0.000179015	19	66				
XIRP2	129446	broad.mit.edu	37	2	168107805	168107805	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:168107805G>A	ENST00000409195.1	+	9	9992	c.9903G>A	c.(9901-9903)gtG>gtA	p.V3301V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3079V|XIRP2_ENST00000295237.9_Silent_p.V3301V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3126					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGTTGCAGTGCCTCCTCGCC	0.438																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(9901-9903)GTG>GTA		xin actin-binding repeat containing 2 isoform 1							107.0	109.0	108.0					2																	168107805		2040	4196	6236	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107805G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9903G>A	2.37:g.168107805G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.V3126V|XIRP2_uc010fpq.2_Silent_p.V3079V|XIRP2_uc010fpr.2_Intron	p.V3301V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9921	+			3126					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.9903G>A	CCDS42769.1																																																																																				0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		54	144	0	0	0	0	54	144				
MYO3B	140469	broad.mit.edu	37	2	171260886	171260886	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:171260886C>A	ENST00000408978.4	+	20	2550	c.2407C>A	c.(2407-2409)Caa>Aaa	p.Q803K	MYO3B_ENST00000409044.3_Missense_Mutation_p.Q803K|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.Q812K	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	803	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCGGTTTCCCCAAGCAACTGA	0.468																																						uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(2407-2409)CAA>AAA		myosin IIIB isoform 2							76.0	75.0	75.0					2																	171260886		1904	4121	6025	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171260886C>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2407C>A	2.37:g.171260886C>A	ENSP00000386213:p.Gln803Lys					MYO3B_uc002ufv.2_Missense_Mutation_p.Q790K|MYO3B_uc010fqb.1_Missense_Mutation_p.Q790K|MYO3B_uc002ufz.2_Missense_Mutation_p.Q803K|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.Q803K	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			20	2550	+			803			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.2407C>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774569	0.49786	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.57	5.57	0.84162	Myosin head, motor domain (2);	0.049132	0.85682	D	0.000000	T	0.71962	0.3402	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.12013	0.001;0.004;0.005	B;B;B	0.18871	0.002;0.011;0.023	T	0.66196	-0.5984	10	0.15499	T	0.54	.	19.9215	0.97087	0.0:1.0:0.0:0.0	.	803;803;803	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	K	803;803;802;812;812	ENSP00000386497:Q803K;ENSP00000386213:Q803K;ENSP00000446237:Q812K;ENSP00000335100:Q812K	ENSP00000314213:Q802K	Q	+	1	0	MYO3B	170969132	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.583000	0.82559	2.785000	0.95823	0.655000	0.94253	CAA		0.468	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			36	72	1	0	1.36e-19	2.14e-19	36	72				
TTN	7273	broad.mit.edu	37	2	179452324	179452324	+	Missense_Mutation	SNP	G	G	A	rs190432620		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:179452324G>A	ENST00000591111.1	-	256	59013	c.58789C>T	c.(58789-58791)Cgt>Tgt	p.R19597C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18670C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21238C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12298C|TTN_ENST00000460472.2_Missense_Mutation_p.R12173C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12365C			Q8WZ42	TITIN_HUMAN	titin	19597	Ig-like 109.				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)			GAGTCATCACGGGTAGAATTG	0.413													.|||	1	0.000199681	0.0	0.0	5008	,	,		21195	0.0		0.001	False		,,,				2504	0.0					uc010zfg.1		NA																	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.(56008-56010)CGT>TGT		titin isoform N2-A							87.0	80.0	82.0					2																	179452324		1902	4127	6029	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452324G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58789C>T	2.37:g.179452324G>A	ENSP00000465570:p.Arg19597Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12365C|TTN_uc010zfi.1_Missense_Mutation_p.R12298C|TTN_uc010zfj.1_Missense_Mutation_p.R12173C	p.R18670C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		255	56232	-			19597					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.56008C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.09	1.833498	0.32421	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.98	5.05	0.67936	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77605	0.4155	H	0.97896	4.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85575	0.1236	9	0.87932	D	0	.	16.042	0.80691	0.0:0.0:0.8652:0.1348	.	12173;12298;12365;19597	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	18670;12173;12365;12298;12171	ENSP00000343764:R18670C;ENSP00000434586:R12173C;ENSP00000340554:R12365C;ENSP00000352154:R12298C	ENSP00000340554:R12365C	R	-	1	0	TTN	179160570	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.177000	0.65032	2.835000	0.97688	0.650000	0.86243	CGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	63	0	0	0	0	17	63				
TTN	7273	broad.mit.edu	37	2	179469614	179469614	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:179469614G>C	ENST00000591111.1	-	231	49503	c.49279C>G	c.(49279-49281)Cca>Gca	p.P16427A	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15500A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P18068A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9128A|TTN_ENST00000460472.2_Missense_Mutation_p.P9003A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9195A			Q8WZ42	TITIN_HUMAN	titin	16427	Fibronectin type-III 19. {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)			TTTCTTGGTGGGGATGGGCGG	0.423																																						uc010zfg.1		NA																	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.(46498-46500)CCA>GCA		titin isoform N2-A							114.0	105.0	108.0					2																	179469614		1898	4124	6022	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469614G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49279C>G	2.37:g.179469614G>C	ENSP00000465570:p.Pro16427Ala					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P9195A|TTN_uc010zfi.1_Missense_Mutation_p.P9128A|TTN_uc010zfj.1_Missense_Mutation_p.P9003A	p.P15500A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		230	46722	-			16427					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.46498C>G		.	.	.	.	.	.	.	.	.	.	G	14.10	2.434064	0.43224	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64778	0.2629	L	0.43646	1.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.64685	-0.6349	9	0.87932	D	0	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	9003;9128;9195;16427	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	15500;9003;9195;9128;9003	ENSP00000343764:P15500A;ENSP00000434586:P9003A;ENSP00000340554:P9195A;ENSP00000352154:P9128A	ENSP00000340554:P9195A	P	-	1	0	TTN	179177859	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	CCA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		56	133	0	0	0	0	56	133				
ZNF385B	151126	broad.mit.edu	37	2	180308165	180308165	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:180308165T>C	ENST00000410066.1	-	10	1831	c.1228A>G	c.(1228-1230)Aag>Gag	p.K410E	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.K334E|ZNF385B_ENST00000409692.1_Missense_Mutation_p.K308E|ZNF385B_ENST00000336917.5_Missense_Mutation_p.K308E	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	410	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCCAAAGGCTTCATCATATCT	0.562																																					Colon(155;204 2491 32774 51842)	uc002unn.3		NA																	0				ovary(1)	1						c.(1228-1230)AAG>GAG		zinc finger protein 385B isoform 1							36.0	43.0	41.0					2																	180308165		2199	4299	6498	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180308165T>C	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1228A>G	2.37:g.180308165T>C	ENSP00000386845:p.Lys410Glu					ZNF385B_uc002unj.2_Missense_Mutation_p.K308E|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.K307E|ZNF385B_uc002unm.2_Missense_Mutation_p.K334E	p.K410E	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		10	1832	-			410					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.1228A>G	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246610	0.80024	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.38560	1.13;1.2;1.14;1.2	5.49	5.49	0.81192	.	0.237282	0.42682	D	0.000677	T	0.63319	0.2501	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.67145	0.993;0.996	D;D	0.77557	0.978;0.99	T	0.67130	-0.5748	10	0.87932	D	0	-13.3059	15.5929	0.76550	0.0:0.0:0.0:1.0	.	410;334	Q569K4;Q569K4-2	Z385B_HUMAN;.	E	410;308;334;308	ENSP00000386845:K410E;ENSP00000338225:K308E;ENSP00000386379:K334E;ENSP00000386507:K308E	ENSP00000338225:K308E	K	-	1	0	ZNF385B	180016410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.637000	0.83313	2.075000	0.62263	0.459000	0.35465	AAG		0.562	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		8	28	0	0	0	0	8	28				
ZNF385B	151126	broad.mit.edu	37	2	180383318	180383318	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:180383318G>T	ENST00000410066.1	-	5	1047	c.444C>A	c.(442-444)tcC>tcA	p.S148S	ZNF385B_ENST00000409692.1_Silent_p.S46S|ZNF385B_ENST00000336917.5_Silent_p.S46S|ZNF385B_ENST00000409343.1_Silent_p.S72S|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	148	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTGGGGGAATGGATACTCCAA	0.343																																					Colon(155;204 2491 32774 51842)	uc002unn.3		NA																	0				ovary(1)	1						c.(442-444)TCC>TCA		zinc finger protein 385B isoform 1							122.0	125.0	124.0					2																	180383318		2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180383318G>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.444C>A	2.37:g.180383318G>T						ZNF385B_uc002unj.2_Silent_p.S46S|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.S45S|ZNF385B_uc002unm.2_Silent_p.S72S	p.S148S	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		5	1048	-			148					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.444C>A	CCDS33339.1																																																																																				0.343	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		72	126	1	0	4.39e-58	7.46e-58	72	126				
ZNF804A	91752	broad.mit.edu	37	2	185801142	185801142	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:185801142T>C	ENST00000302277.6	+	4	1613	c.1019T>C	c.(1018-1020)gTt>gCt	p.V340A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	340							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTAGAGAGTGTTGTTATTAAT	0.333																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1018-1020)GTT>GCT		zinc finger protein 804A							48.0	45.0	46.0					2																	185801142		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801142T>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1019T>C	2.37:g.185801142T>C	ENSP00000303252:p.Val340Ala						p.V340A	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1613	+			340					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1019T>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	t	2.204	-0.382363	0.04966	.	.	ENSG00000170396	ENST00000302277	T	0.06608	3.28	5.31	1.7	0.24286	.	1.401730	0.04368	N	0.358580	T	0.05364	0.0142	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.44221	-0.9342	10	0.15499	T	0.54	-1.8237	8.3932	0.32542	0.0:0.3924:0.0:0.6076	.	340	Q7Z570	Z804A_HUMAN	A	340	ENSP00000303252:V340A	ENSP00000303252:V340A	V	+	2	0	ZNF804A	185509387	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	0.066000	0.14489	0.344000	0.23847	0.482000	0.46254	GTT		0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		36	80	0	0	0	0	36	80				
NAB1	4664	broad.mit.edu	37	2	191555023	191555023	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:191555023G>C	ENST00000337386.5	+	10	1889	c.1428G>C	c.(1426-1428)aaG>aaC	p.K476N	NAB1_ENST00000357215.5_Missense_Mutation_p.K447N|NAB1_ENST00000545490.1_Missense_Mutation_p.K216N|AC006460.2_ENST00000421437.1_RNA|AC006460.2_ENST00000428032.1_RNA|AC006460.2_ENST00000411949.1_RNA|NAB1_ENST00000409581.1_Missense_Mutation_p.K476N|NAB1_ENST00000409641.1_Missense_Mutation_p.K475N	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	476					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CCTTAGAAAAGAAAGTCATCA	0.353																																						uc002usb.2		NA																	0					0						c.(1426-1428)AAG>AAC		NGFI-A binding protein 1							103.0	115.0	111.0					2																	191555023		2203	4299	6502	SO:0001583	missense	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191555023G>C		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.1428G>C	2.37:g.191555023G>C	ENSP00000336894:p.Lys476Asn					NAB1_uc010fsc.2_Missense_Mutation_p.K476N|NAB1_uc010fsd.2_Missense_Mutation_p.K475N|NAB1_uc002usc.2_Missense_Mutation_p.K475N|NAB1_uc010zgh.1_Missense_Mutation_p.K446N	p.K476N	NM_005966	NP_005957	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		10	2000	+			476					O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	c.1428G>C	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.304479|2.304479	0.40795|0.40795	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000434473|ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490	.|.	.|.	.|.	4.84|4.84	2.05|2.05	0.26809|0.26809	.|Nab1, C-terminal (1);	.|0.279628	.|0.40144	.|N	.|0.001167	T|T	0.43478|0.43478	0.1249|0.1249	N|N	0.19112|0.19112	0.55|0.55	0.43852|0.43852	D|D	0.996443|0.996443	.|B;B;B	.|0.28713	.|0.081;0.22;0.22	.|B;B;B	.|0.35770	.|0.078;0.21;0.21	T|T	0.38067|0.38067	-0.9678|-0.9678	5|9	.|0.72032	.|D	.|0.01	-16.9549|-16.9549	9.478|9.478	0.38884|0.38884	0.2229:0.0:0.7771:0.0|0.2229:0.0:0.7771:0.0	.|.	.|447;475;476	.|F8W8J7;B8ZZS2;Q13506	.|.;.;NAB1_HUMAN	Q|N	229|476;476;447;475;216	.|.	.|ENSP00000336894:K476N	E|K	+|+	1|3	0|2	NAB1|NAB1	191263268|191263268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.401000|1.401000	0.34589|0.34589	0.339000|0.339000	0.23719|0.23719	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.353	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		4	428	0	0	0	0	4	428				
ANKRD44	91526	broad.mit.edu	37	2	197863757	197863757	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:197863757C>A	ENST00000328737.2	-	24	2540	c.2464G>T	c.(2464-2466)Gca>Tca	p.A822S	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A822S|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A839S|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A822S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	847										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCAGCAAATGCTGCCGCATGA	0.438																																						uc002uua.1		NA																	0				ovary(4)|skin(1)	5						c.(2464-2466)GCA>TCA		ankyrin repeat domain 44							93.0	83.0	86.0					2																	197863757		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197863757C>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2464G>T	2.37:g.197863757C>A	ENSP00000331516:p.Ala822Ser					ANKRD44_uc002utz.3_Missense_Mutation_p.A554S	p.A822S	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		24	2541	-			847			ANK 25.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.2464G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.790270|4.790270	0.90367|0.90367	.|.	.|.	ENSG00000065413|ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207|ENST00000448801	T;T;T;T;T|.	0.71341|.	-0.56;-0.56;-0.36;-0.36;-0.56|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72366|0.72366	0.3451|0.3451	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.81914|.	0.995|.	T|T	0.69435|0.69435	-0.5146|-0.5146	10|5	0.15952|.	T|.	0.53|.	.|.	18.8165|18.8165	0.92079|0.92079	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	865|.	Q8N8A2-2|.	.|.	S|I	662;839;822;822;822|35	ENSP00000403415:A662S;ENSP00000282272:A839S;ENSP00000331516:A822S;ENSP00000402420:A822S;ENSP00000338794:A822S|.	ENSP00000282272:A839S|.	A|S	-|-	1|2	0|0	ANKRD44|ANKRD44	197572002|197572002	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.862000|0.862000	0.49288|0.49288	7.651000|7.651000	0.83577|0.83577	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	GCA|AGC		0.438	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		18	87	1	0	5.35e-07	7.51e-07	18	87				
ALS2	57679	broad.mit.edu	37	2	202575803	202575803	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:202575803G>C	ENST00000264276.6	-	26	4405	c.4033C>G	c.(4033-4035)Cag>Gag	p.Q1345E	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1345					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTAGTGTCTGAGTCTGTGAA	0.363																																						uc002uyo.2		NA																	0				skin(5)|lung(1)|breast(1)	7						c.(4033-4035)CAG>GAG		alsin isoform 1							99.0	94.0	95.0					2																	202575803		1847	4096	5943	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202575803G>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4033C>G	2.37:g.202575803G>C	ENSP00000264276:p.Gln1345Glu					ALS2_uc010ftl.2_RNA	p.Q1345E	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			26	4389	-			1345					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.4033C>G	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696540	0.30142	.	.	ENSG00000003393	ENST00000264276	T	0.53640	0.61	5.77	5.77	0.91146	.	0.357050	0.32548	N	0.005952	T	0.34919	0.0914	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.20940	-1.0260	10	0.08599	T	0.76	.	20.3559	0.98840	0.0:0.0:1.0:0.0	.	1345	Q96Q42	ALS2_HUMAN	E	1345	ENSP00000264276:Q1345E	ENSP00000264276:Q1345E	Q	-	1	0	ALS2	202284048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.579000	0.67457	2.890000	0.99128	0.585000	0.79938	CAG		0.363	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		27	102	0	0	0	0	27	102				
PIKFYVE	200576	broad.mit.edu	37	2	209180091	209180091	+	Silent	SNP	C	C	T	rs35180719		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:209180091C>T	ENST00000264380.4	+	15	2159	c.2001C>T	c.(1999-2001)atC>atT	p.I667I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	667					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGTCCACATCAAAAAAGTGA	0.418																																						uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(1999-2001)ATC>ATT		phosphatidylinositol-3-phosphate 5-kinase type							82.0	72.0	75.0					2																	209180091		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209180091C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2001C>T	2.37:g.209180091C>T						PIKFYVE_uc010fun.1_Silent_p.I348I|PIKFYVE_uc002vcy.1_Silent_p.I611I	p.I667I	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			15	2159	+			667					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.2001C>T	CCDS2382.1																																																																																				0.418	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		13	29	0	0	0	0	13	29				
KANSL1L	151050	broad.mit.edu	37	2	211018891	211018891	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:211018891G>C	ENST00000281772.9	-	2	679	c.416C>G	c.(415-417)tCa>tGa	p.S139*	KANSL1L_ENST00000457374.1_Nonsense_Mutation_p.S139*|KANSL1L_ENST00000452086.1_Nonsense_Mutation_p.S139*|KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000418791.1_Nonsense_Mutation_p.S139*	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	139						histone acetyltransferase complex (GO:0000123)											CGTGGTATCTGATAGAGGCTC	0.343																																						uc002vds.2		NA																	0				ovary(3)	3						c.(415-417)TCA>TGA		hypothetical protein LOC151050							77.0	77.0	77.0					2																	211018891		2203	4300	6503	SO:0001587	stop_gained	151050							g.chr2:211018891G>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.416C>G	2.37:g.211018891G>C	ENSP00000281772:p.Ser139*					C2orf67_uc002vdt.2_Nonsense_Mutation_p.S139*|C2orf67_uc002vdw.2_Nonsense_Mutation_p.S139*|C2orf67_uc002vdy.1_Nonsense_Mutation_p.S139*|C2orf67_uc002vdv.2_Nonsense_Mutation_p.S139*|C2orf67_uc002vdx.1_Nonsense_Mutation_p.S139*	p.S139*	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	2	624	-		Renal(323;0.202)	139					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Nonsense_Mutation	SNP	ENST00000281772.9	37	c.416C>G	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871972	0.91587	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.81	5.81	0.92471	.	0.097899	0.44902	D	0.000405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.1391	0.98050	0.0:0.0:1.0:0.0	.	.	.	.	X	139	.	ENSP00000281772:S139X	S	-	2	0	C2orf67	210727136	1.000000	0.71417	0.995000	0.50966	0.843000	0.47879	4.050000	0.57404	2.765000	0.95021	0.558000	0.71614	TCA		0.343	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		5	73	0	0	0	0	5	73				
MYL1	4632	broad.mit.edu	37	2	211163191	211163191	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:211163191G>C	ENST00000352451.3	-	3	404	c.257C>G	c.(256-258)cCc>cGc	p.P86R	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.P42R	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	86					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGCATTGGTGGGATTTGTGCC	0.478																																						uc002vec.2		NA																	0				ovary(1)	1						c.(256-258)CCC>CGC		fast skeletal myosin alkali light chain 1							157.0	148.0	151.0					2																	211163191		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211163191G>C		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.257C>G	2.37:g.211163191G>C	ENSP00000307280:p.Pro86Arg					MYL1_uc002veb.2_Missense_Mutation_p.P42R	p.P86R	NM_079420	NP_524144	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	3	386	-			86					B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.257C>G	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669033	0.88348	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	D;D	0.88586	-2.4;-2.4	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98982	1.0805	10	0.87932	D	0	.	18.8527	0.92238	0.0:0.0:1.0:0.0	.	86;42	P05976;P05976-2	MYL1_HUMAN;.	R	42;86	ENSP00000343321:P42R;ENSP00000307280:P86R	ENSP00000343321:P42R	P	-	2	0	MYL1	210871436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.451000	0.82905	0.650000	0.86243	CCC		0.478	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		57	72	0	0	0	0	57	72				
ERBB4	2066	broad.mit.edu	37	2	212589868	212589868	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:212589868T>A	ENST00000342788.4	-	6	984	c.674A>T	c.(673-675)tAc>tTc	p.Y225F	ERBB4_ENST00000436443.1_Missense_Mutation_p.Y225F|ERBB4_ENST00000484474.1_5'Flank|ERBB4_ENST00000402597.1_Missense_Mutation_p.Y225F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	225	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTCACTGACGTAAGGTCCGTA	0.493										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(673-675)TAC>TTC		v-erb-a erythroblastic leukemia viral oncogene							150.0	132.0	138.0					2																	212589868		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212589868T>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.674A>T	2.37:g.212589868T>A	ENSP00000342235:p.Tyr225Phe	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.Y225F|ERBB4_uc010zji.1_Missense_Mutation_p.Y225F|ERBB4_uc010zjj.1_Missense_Mutation_p.Y225F|ERBB4_uc010fut.1_Missense_Mutation_p.Y225F	p.Y225F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	6	772	-		Renal(323;0.06)|Lung NSC(271;0.197)	225			Cys-rich.|Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.674A>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.02|11.02	1.515513|1.515513	0.27123|0.27123	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.34275	.|1.37;1.37;1.37	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.25144|0.25144	0.715|0.715	0.47341|0.47341	D|D	0.99939|0.99939	.|B;B;B;B;B	.|0.09022	.|0.001;0.0;0.0;0.001;0.002	.|B;B;B;B;B	.|0.19391	.|0.006;0.005;0.012;0.006;0.025	T|T	0.09335|0.09335	-1.0679|-1.0679	5|10	.|0.10902	.|T	.|0.67	.|.	12.525|12.525	0.56081|0.56081	0.0:0.0:0.139:0.861|0.0:0.0:0.139:0.861	.|.	.|225;225;84;225;225	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	S|F	225|225	.|ENSP00000342235:Y225F;ENSP00000403204:Y225F;ENSP00000385565:Y225F	.|ENSP00000342235:Y225F	T|Y	-|-	1|2	0|0	ERBB4|ERBB4	212298113|212298113	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.796000|0.796000	0.44982|0.44982	3.368000|3.368000	0.52357|0.52357	2.188000|2.188000	0.69820|0.69820	0.528000|0.528000	0.53228|0.53228	ACG|TAC		0.493	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		41	47	0	0	0	0	41	47				
FN1	2335	broad.mit.edu	37	2	216269263	216269263	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:216269263G>A	ENST00000359671.1	-	20	3367	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	FN1_ENST00000357867.4_Silent_p.T1034T|FN1_ENST00000446046.1_Silent_p.T1034T|FN1_ENST00000443816.1_Silent_p.T1034T|FN1_ENST00000432072.2_Silent_p.T1034T|FN1_ENST00000345488.5_Silent_p.T1034T|FN1_ENST00000356005.4_Silent_p.T1034T|FN1_ENST00000323926.6_Silent_p.T1034T|FN1_ENST00000346544.3_Silent_p.T1034T|FN1_ENST00000357009.2_Silent_p.T1034T|FN1_ENST00000354785.4_Silent_p.T1034T|FN1_ENST00000336916.4_Silent_p.T1034T|FN1_ENST00000421182.1_Silent_p.T1034T			P02751	FINC_HUMAN	fibronectin 1	1034	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTCCTCTTCGGGTAAGGCCCA	0.547																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(3100-3102)ACC>ACT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						114.0	104.0	107.0					2																	216269263		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216269263G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3102C>T	2.37:g.216269263G>A						FN1_uc002vfb.2_Silent_p.T1034T|FN1_uc002vfc.2_Silent_p.T1034T|FN1_uc002vfd.2_Silent_p.T1034T|FN1_uc002vfe.2_Silent_p.T1034T|FN1_uc002vff.2_Silent_p.T1034T|FN1_uc002vfg.2_Silent_p.T1034T|FN1_uc002vfh.2_Silent_p.T1034T|FN1_uc002vfi.2_Silent_p.T1034T|FN1_uc002vfj.2_Silent_p.T1034T	p.T1034T	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	20	3368	-		Renal(323;0.127)	1034			|Fibronectin type-III 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.3102C>T																																																																																					0.547	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		45	50	0	0	0	0	45	50				
RNPEPL1	57140	broad.mit.edu	37	2	241514540	241514540	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:241514540G>A	ENST00000270357.4	+	7	1282	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	230					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)		GACCCACAGCGCTTTGATGAC	0.632																																						uc002vzi.2		NA																	0				large_intestine(1)|skin(1)	2						c.(688-690)CGC>CAC		arginyl aminopeptidase (aminopeptidase B)-like							142.0	132.0	136.0					2																	241514540		2203	4300	6503	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241514540G>A			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.689G>A	2.37:g.241514540G>A	ENSP00000270357:p.Arg230His					RNPEPL1_uc010fzf.2_Missense_Mutation_p.R136H|RNPEPL1_uc002vzj.2_5'Flank	p.R230H	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	1282	+		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)	230					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.689G>A		.	.	.	.	.	.	.	.	.	.	G	13.54	2.266375	0.40095	.	.	ENSG00000142327	ENST00000270357	T	0.04970	3.52	4.13	2.95	0.34219	.	0.266242	0.36234	N	0.002715	T	0.06280	0.0162	L	0.60455	1.87	0.41943	D	0.990625	B;B	0.21688	0.059;0.003	B;B	0.12156	0.007;0.004	T	0.22452	-1.0216	10	0.35671	T	0.21	-3.5649	4.2713	0.10787	0.3129:0.0:0.6871:0.0	.	136;230	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	H	230	ENSP00000270357:R230H	ENSP00000270357:R230H	R	+	2	0	RNPEPL1	241163213	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.529000	0.35996	2.040000	0.60383	0.467000	0.42956	CGC		0.632	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		81	75	0	0	0	0	81	75				
HDLBP	3069	broad.mit.edu	37	2	242187504	242187504	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:242187504G>T	ENST00000391975.1	-	14	1872	c.1645C>A	c.(1645-1647)Caa>Aaa	p.Q549K	HDLBP_ENST00000476807.1_5'Flank|AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000310931.4_Missense_Mutation_p.Q549K|HDLBP_ENST00000427183.2_Missense_Mutation_p.Q516K|HDLBP_ENST00000391976.2_Missense_Mutation_p.Q549K	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	549	KH 6. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.Q549*(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCACTTTTTTGTGCTGGGTCT	0.408																																						uc002waz.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	breast(3)|skin(1)	4						c.(1645-1647)CAA>AAA		high density lipoprotein binding protein							163.0	146.0	151.0					2																	242187504		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242187504G>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1645C>A	2.37:g.242187504G>T	ENSP00000375836:p.Gln549Lys					HDLBP_uc002wba.2_Missense_Mutation_p.Q549K|HDLBP_uc002wbb.2_Missense_Mutation_p.Q501K	p.Q549K	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	14	1873	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	549			KH 6.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1645C>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.90|14.90	2.674672|2.674672	0.47781|0.47781	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292	T;T;T;T;T|.	0.22539|.	2.19;2.19;2.19;2.16;1.95|.	5.93|5.93	5.93|5.93	0.95920|0.95920	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.150121|.	0.64402|.	D|.	0.000009|.	T|T	0.52917|0.52917	0.1764|0.1764	N|N	0.16166|0.16166	0.38|0.38	0.80722|0.80722	D|D	1|1	B;B|.	0.10296|.	0.003;0.0|.	B;B|.	0.14023|.	0.01;0.007|.	T|T	0.45116|0.45116	-0.9283|-0.9283	10|5	0.08599|.	T|.	0.76|.	-27.488|-27.488	20.3539|20.3539	0.98825|0.98825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	516;549|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	K|K	549;549;549;516;58|357	ENSP00000375836:Q549K;ENSP00000375837:Q549K;ENSP00000312042:Q549K;ENSP00000399139:Q516K;ENSP00000388876:Q58K|.	ENSP00000312042:Q549K|.	Q|T	-|-	1|2	0|0	HDLBP|HDLBP	241836177|241836177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.628000|0.628000	0.37860|0.37860	9.787000|9.787000	0.99055|0.99055	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.408	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		43	37	1	0	1.85e-21	2.94e-21	43	37				
C20orf194	25943	broad.mit.edu	37	20	3324338	3324338	+	Missense_Mutation	SNP	T	T	A	rs372819234		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:3324338T>A	ENST00000252032.9	-	9	897	c.830A>T	c.(829-831)cAt>cTt	p.H277L	C20orf194_ENST00000453730.2_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	277										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTCAGTTATATGGCTAGAGAT	0.388																																						uc002wii.2		NA																	0					0						c.(829-831)CAT>CTT		hypothetical protein LOC25943							297.0	295.0	296.0					20																	3324338		1847	4093	5940	SO:0001583	missense	25943							g.chr20:3324338T>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.830A>T	20.37:g.3324338T>A	ENSP00000252032:p.His277Leu					C20orf194_uc002wij.3_5'Flank|C20orf194_uc002wik.2_Intron|C20orf194_uc010gay.1_RNA	p.H277L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			9	881	-			277					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.830A>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430632	0.83776	.	.	ENSG00000088854	ENST00000252032	T	0.18338	2.22	5.64	5.64	0.86602	.	0.057739	0.64402	D	0.000002	T	0.34774	0.0909	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	D	0.64144	0.922	T	0.03483	-1.1032	10	0.62326	D	0.03	.	15.533	0.75980	0.0:0.0:0.0:1.0	.	277	Q5TEA3	CT194_HUMAN	L	277	ENSP00000252032:H277L	ENSP00000252032:H277L	H	-	2	0	C20orf194	3272338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.889000	0.63171	2.157000	0.67596	0.528000	0.53228	CAT		0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		292	252	0	0	0	0	292	252				
SLC23A2	9962	broad.mit.edu	37	20	4865411	4865411	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:4865411G>A	ENST00000379333.1	-	8	1022	c.630C>T	c.(628-630)ccC>ccT	p.P210P	SLC23A2_ENST00000338244.1_Silent_p.P210P|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	210					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCGGATCCGGGGATACCAGA	0.418																																						uc002wlg.1		NA																	0				ovary(2)	2						c.(628-630)CCC>CCT		solute carrier family 23 (nucleobase							172.0	169.0	170.0					20																	4865411		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4865411G>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.630C>T	20.37:g.4865411G>A						SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Silent_p.P210P|SLC23A2_uc002wli.2_Silent_p.P209P	p.P210P	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			8	1005	-			210					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.630C>T	CCDS13085.1																																																																																				0.418	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			54	180	0	0	0	0	54	180				
INSM1	3642	broad.mit.edu	37	20	20350277	20350277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:20350277C>T	ENST00000310227.1	+	1	1513	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	456					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CAAGGGCGCTCAGGAGCGCCA	0.716																																						uc002wrx.2		NA																	0				ovary(1)	1						c.(1366-1368)CAG>TAG		insulinoma-associated 1							18.0	21.0	20.0					20																	20350277		2182	4279	6461	SO:0001587	stop_gained	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20350277C>T		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1366C>T	20.37:g.20350277C>T	ENSP00000312631:p.Gln456*						p.Q456*	NM_002196	NP_002187	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	1513	+			456			C2H2-type 4.			Nonsense_Mutation	SNP	ENST00000310227.1	37	c.1366C>T	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	38	6.947691	0.97956	.	.	ENSG00000173404	ENST00000310227	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-17.0604	15.5543	0.76180	0.1384:0.8616:0.0:0.0	.	.	.	.	X	456	.	ENSP00000312631:Q456X	Q	+	1	0	INSM1	20298277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.578000	0.60929	2.522000	0.85027	0.650000	0.86243	CAG		0.716	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		14	37	0	0	0	0	14	37				
BPIFB3	359710	broad.mit.edu	37	20	31652345	31652345	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:31652345G>T	ENST00000375494.3	+	7	735	c.735G>T	c.(733-735)ctG>ctT	p.L245L		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	245					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ACATAGAACTGGACATCAACG	0.587																																						uc002wym.1		NA																	0				ovary(4)	4						c.(733-735)CTG>CTT		antimicrobial peptide RYA3 precursor							82.0	66.0	72.0					20																	31652345		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31652345G>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.735G>T	20.37:g.31652345G>T							p.L245L	NM_182658	NP_872599	P59826	LPLC3_HUMAN			7	735	+			245					Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.735G>T	CCDS13212.1																																																																																				0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		28	67	1	0	7.26e-15	1.1e-14	28	67				
SAMHD1	25939	broad.mit.edu	37	20	35559189	35559189	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:35559189T>C	ENST00000262878.4	-	5	798	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	200	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCCAGCAATCTGAACACAGAG	0.413																																						uc002xgh.1		NA																	0					0						c.(598-600)CAG>CGG		SAM domain- and HD domain-containing protein 1							194.0	176.0	182.0					20																	35559189		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35559189T>C	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.599A>G	20.37:g.35559189T>C	ENSP00000262878:p.Gln200Arg						p.Q200R	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			5	729	-		Myeloproliferative disorder(115;0.00878)	200			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.599A>G	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718964	0.89205	.	.	ENSG00000101347	ENST00000262878	D	0.89050	-2.46	6.02	6.02	0.97574	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.106561	0.64402	D	0.000003	D	0.85071	0.5613	N	0.25789	0.76	0.80722	D	1	B	0.32467	0.372	B	0.39935	0.314	T	0.81927	-0.0709	10	0.19590	T	0.45	-16.5248	16.5494	0.84464	0.0:0.0:0.0:1.0	.	200	Q9Y3Z3	SAMH1_HUMAN	R	200	ENSP00000262878:Q200R	ENSP00000262878:Q200R	Q	-	2	0	SAMHD1	34992603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.299000	0.77371	0.528000	0.53228	CAG		0.413	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		64	141	0	0	0	0	64	141				
RTEL1	51750	broad.mit.edu	37	20	62321524	62321524	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:62321524C>T	ENST00000360203.5	+	25	2551	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	RTEL1_ENST00000508582.2_Silent_p.I766I|RTEL1_ENST00000318100.4_Silent_p.I742I|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.I742I|RTEL1_ENST00000370018.3_Silent_p.I742I|RTEL1_ENST00000370003.1_5'UTR					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCATGTCATCCGAGACGTGG	0.617																																						uc002yfu.1		NA																	0					0						c.(2224-2226)ATC>ATT		regulator of telomere elongation helicase 1							108.0	92.0	97.0					20																	62321524		2203	4298	6501	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62321524C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2226C>T	20.37:g.62321524C>T						RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.I742I|RTEL1_uc011abd.1_Silent_p.I766I|RTEL1_uc011abe.1_Silent_p.I519I|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'UTR	p.I742I	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		25	2569	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		742						Silent	SNP	ENST00000360203.5	37	c.2226C>T																																																																																					0.617	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		9	99	0	0	0	0	9	99				
ZNF512B	57473	broad.mit.edu	37	20	62591451	62591451	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:62591451C>G	ENST00000450537.1	-	17	2529	c.2469G>C	c.(2467-2469)agG>agC	p.R823S	ZNF512B_ENST00000217130.3_Missense_Mutation_p.R823S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.R823S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	823					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGTCCTGGCTCCTGTGTTTGG	0.572																																						uc002yhl.1		NA																	0					0						c.(2467-2469)AGG>AGC		zinc finger protein 512B							85.0	92.0	89.0					20																	62591451		2202	4300	6502	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62591451C>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2469G>C	20.37:g.62591451C>G	ENSP00000393795:p.Arg823Ser						p.R823S	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			17	2523	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		823					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2469G>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902529	0.52227	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24151	1.87;1.87;1.87	4.84	4.84	0.62591	.	0.614711	0.15635	N	0.252181	T	0.16257	0.0391	N	0.14661	0.345	0.30093	N	0.808137	B	0.24186	0.099	B	0.21917	0.037	T	0.07121	-1.0789	10	0.72032	D	0.01	-22.6143	10.1874	0.43006	0.0:0.898:0.0:0.102	.	823	Q96KM6	Z512B_HUMAN	S	823	ENSP00000358904:R823S;ENSP00000393795:R823S;ENSP00000217130:R823S	ENSP00000217130:R823S	R	-	3	2	ZNF512B	62061895	0.014000	0.17966	0.744000	0.31058	0.762000	0.43233	1.481000	0.35476	2.224000	0.72417	0.313000	0.20887	AGG		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		6	122	0	0	0	0	6	122				
MRAP	56246	broad.mit.edu	37	21	33671361	33671361	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:33671361G>C	ENST00000399784.2	+	3	266	c.79G>C	c.(79-81)Gac>Cac	p.D27H	MRAP_ENST00000303645.5_Missense_Mutation_p.D27H|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000399786.3_Missense_Mutation_p.D27H|MRAP_ENST00000339944.4_Missense_Mutation_p.D27H	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	27					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						CATTCCCGTGGACGAGAAGAA	0.582																																						uc002ypj.2		NA																	0					0						c.(79-81)GAC>CAC		melanocortin 2 receptor accessory protein							106.0	79.0	88.0					21																	33671361		2203	4300	6503	SO:0001583	missense	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33671361G>C	AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.79G>C	21.37:g.33671361G>C	ENSP00000382684:p.Asp27His					MRAP_uc002ypk.2_Missense_Mutation_p.D27H|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Missense_Mutation_p.D27H	p.D27H	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN			3	266	+			27			Cytoplasmic (Potential).		Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Missense_Mutation	SNP	ENST00000399784.2	37	c.79G>C	CCDS13613.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939899	0.73557	.	.	ENSG00000170262	ENST00000399784;ENST00000399786;ENST00000303645;ENST00000339944	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.12	5.12	0.69794	.	0.085774	0.44688	D	0.000433	D	0.90817	0.7116	L	0.47190	1.495	0.37306	D	0.908909	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92844	0.6291	10	0.72032	D	0.01	-3.1424	14.0803	0.64917	0.0:0.0:1.0:0.0	.	27;27	Q8TCY5-2;Q8TCY5	.;MRAP_HUMAN	H	27	ENSP00000382684:D27H;ENSP00000382686:D27H;ENSP00000306697:D27H;ENSP00000343661:D27H	ENSP00000306697:D27H	D	+	1	0	MRAP	32593232	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	5.166000	0.64965	2.366000	0.80165	0.655000	0.94253	GAC		0.582	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817		8	91	0	0	0	0	8	91				
SYNJ1	8867	broad.mit.edu	37	21	34003713	34003713	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:34003713G>A	ENST00000322229.7	-	31	4313	c.4314C>T	c.(4312-4314)atC>atT	p.I1438I	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.I1477I|SYNJ1_ENST00000382491.3_Silent_p.I1391I|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1438	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGAAAGGACTGATAGTAACGG	0.468																																						uc002yqh.2		NA																	0				ovary(4)|skin(1)	5						c.(4429-4431)ATC>ATT		synaptojanin 1 isoform a							70.0	69.0	69.0					21																	34003713		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003713G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4314C>T	21.37:g.34003713G>A						SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.I1391I|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Silent_p.I63I	p.I1477I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			32	4431	-			1438			Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.4431C>T	CCDS54484.1																																																																																				0.468	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				19	67	0	0	0	0	19	67				
DSCAM	1826	broad.mit.edu	37	21	42080487	42080487	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:42080487G>A	ENST00000400454.1	-	2	731	c.254C>T	c.(253-255)cCc>cTc	p.P85L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	85	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGAGGGAAGGGGAAAATTTG	0.498																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(253-255)CCC>CTC		Down syndrome cell adhesion molecule isoform							105.0	105.0	105.0					21																	42080487		1915	4143	6058	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42080487G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.254C>T	21.37:g.42080487G>A	ENSP00000383303:p.Pro85Leu					DSCAM_uc002yyr.1_RNA	p.P85L	NM_001389	NP_001380	O60469	DSCAM_HUMAN			2	706	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	85			Extracellular (Potential).|Ig-like C2-type 1.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.254C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350657	0.61183	.	.	ENSG00000171587	ENST00000400454	T	0.40225	1.04	5.1	5.1	0.69264	Immunoglobulin-like fold (1);	0.130398	0.52532	D	0.000076	T	0.50854	0.1640	M	0.82323	2.585	0.58432	D	0.999996	B	0.30211	0.273	B	0.30943	0.122	T	0.58070	-0.7701	10	0.72032	D	0.01	.	17.0669	0.86561	0.0:0.0:1.0:0.0	.	85	O60469	DSCAM_HUMAN	L	85	ENSP00000383303:P85L	ENSP00000383303:P85L	P	-	2	0	DSCAM	41002357	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.826000	0.75298	2.547000	0.85894	0.585000	0.79938	CCC		0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	110	0	0	0	0	5	110				
XBP1	7494	broad.mit.edu	37	22	29191483	29191483	+	3'UTR	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:29191483C>G	ENST00000216037.6	-	0	909				XBP1_ENST00000403532.3_3'UTR|XBP1_ENST00000405219.3_3'UTR|XBP1_ENST00000344347.5_Missense_Mutation_p.E271Q	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CTCTCTGTCTCAGAGGGTATC	0.463																																						uc011akl.1		NA																	0				breast(1)	1						c.(811-813)GAG>CAG		X-box binding protein 1 isoform XBP1(S)							56.0	59.0	58.0					22																	29191483		2200	4297	6497	SO:0001624	3_prime_UTR_variant	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29191483C>G	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.*51G>C	22.37:g.29191483C>G						XBP1_uc003aec.2_Missense_Mutation_p.E92Q|XBP1_uc003aed.2_3'UTR|XBP1_uc003aef.2_Missense_Mutation_p.E92Q	p.E271Q	NM_001079539	NP_001073007	P17861	XBP1_HUMAN			6	859	-			Error:Variant_position_missing_in_P17861_after_alignment					Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	ENST00000216037.6	37	c.811G>C	CCDS13847.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864651	0.71949	.	.	ENSG00000100219	ENST00000344347	.	.	.	5.87	5.87	0.94306	.	0.174098	0.47852	D	0.000209	T	0.74809	0.3765	.	.	.	0.41541	D	0.988513	D	0.63880	0.993	P	0.59889	0.865	T	0.76591	-0.2903	8	0.59425	D	0.04	.	14.4316	0.67254	0.0:0.9278:0.0:0.0722	.	271	P17861-2	.	Q	271	.	ENSP00000343155:E271Q	E	-	1	0	XBP1	27521483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.131000	0.42074	2.791000	0.96007	0.655000	0.94253	GAG		0.463	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		4	39	0	0	0	0	4	39				
THOC5	8563	broad.mit.edu	37	22	29940543	29940543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:29940543C>T	ENST00000490103.1	-	3	268	c.146G>A	c.(145-147)gGc>gAc	p.G49D	THOC5_ENST00000397872.1_Missense_Mutation_p.G49D|THOC5_ENST00000397873.2_Missense_Mutation_p.G49D|THOC5_ENST00000397871.1_Missense_Mutation_p.G49D	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	49	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				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						ATAGTCTCTGCCAGGGTCCCG	0.527																																						uc003afr.2		NA																	0				breast(3)	3						c.(145-147)GGC>GAC		THO complex 5							128.0	110.0	116.0					22																	29940543		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.chr22:29940543C>T	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.146G>A	22.37:g.29940543C>T	ENSP00000420306:p.Gly49Asp					THOC5_uc003afs.2_Missense_Mutation_p.G49D|THOC5_uc003aft.2_Missense_Mutation_p.G49D|THOC5_uc003afu.2_Missense_Mutation_p.G49D|THOC5_uc010gvo.2_5'UTR|THOC5_uc003afv.1_Missense_Mutation_p.G49D|THOC5_uc003afw.1_5'Flank	p.G49D	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			4	481	-			49			Interaction with THOC7.|Interaction with CSF1R (By similarity).		O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.146G>A	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605442	0.28623	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374;ENST00000418021	T;T;T;T;T	0.40756	2.02;2.02;2.02;2.02;1.02	5.78	4.7	0.59300	.	0.496244	0.23805	N	0.044385	T	0.16214	0.0390	N	0.02539	-0.55	0.28485	N	0.91478	B	0.12013	0.005	B	0.11329	0.006	T	0.15464	-1.0436	10	0.13108	T	0.6	-27.1158	8.7368	0.34534	0.1656:0.731:0.0:0.1034	.	49	Q13769	THOC5_HUMAN	D	49;49;49;49;49;45;49;49	ENSP00000420306:G49D;ENSP00000380970:G49D;ENSP00000380969:G49D;ENSP00000380971:G49D;ENSP00000415425:G45D	ENSP00000444493:G49D	G	-	2	0	THOC5	28270543	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	1.717000	0.37991	2.733000	0.93635	0.655000	0.94253	GGC		0.527	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		6	157	0	0	0	0	6	157				
OSBP2	23762	broad.mit.edu	37	22	31091189	31091189	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:31091189C>T	ENST00000332585.6	+	1	397	c.293C>T	c.(292-294)tCg>tTg	p.S98L	OSBP2_ENST00000382310.3_Missense_Mutation_p.S98L|OSBP2_ENST00000446658.2_Missense_Mutation_p.S98L|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	98					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGGCAGCCATCGGAACTGCTG	0.667																																						uc003aiy.1		NA																	0				breast(1)|skin(1)	2						c.(292-294)TCG>TTG		oxysterol binding protein 2 isoform a							27.0	36.0	33.0					22																	31091189		2120	4248	6368	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31091189C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.293C>T	22.37:g.31091189C>T	ENSP00000332576:p.Ser98Leu					OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.S98L|OSBP2_uc011alb.1_Missense_Mutation_p.S98L|OSBP2_uc003aiz.1_Missense_Mutation_p.S98L	p.S98L	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			1	397	+			98					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.293C>T	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391904	0.25118	.	.	ENSG00000184792	ENST00000332585;ENST00000382310;ENST00000446658	T;T;T	0.30981	1.55;1.51;1.55	3.58	-1.23	0.09465	.	9.292420	0.00166	N	0.000000	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.12344	-1.0551	10	0.22706	T	0.39	-23.592	4.4134	0.11445	0.0:0.3174:0.1775:0.5051	.	98;98;98	B4DFA8;Q0VF99;Q969R2	.;.;OSBP2_HUMAN	L	98	ENSP00000332576:S98L;ENSP00000371747:S98L;ENSP00000392080:S98L	ENSP00000332576:S98L	S	+	2	0	OSBP2	29421189	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.114000	0.10757	-0.142000	0.11354	-0.345000	0.07892	TCG		0.667	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		9	76	0	0	0	0	9	76				
GRAMD4	23151	broad.mit.edu	37	22	47033814	47033814	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:47033814C>T	ENST00000406902.1	+	3	453	c.240C>T	c.(238-240)atC>atT	p.I80I	GRAMD4_ENST00000490378.1_3'UTR|GRAMD4_ENST00000361034.3_Silent_p.I80I			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	80					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TGAATGAGATCAAAGGTCACC	0.498																																						uc003bhx.2		NA																	0				ovary(1)	1						c.(238-240)ATC>ATT		death-inducing-protein							123.0	119.0	120.0					22																	47033814		2203	4300	6503	SO:0001819	synonymous_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47033814C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.240C>T	22.37:g.47033814C>T						GRAMD4_uc010had.2_Silent_p.I19I	p.I80I	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	2	279	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	80					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	c.240C>T	CCDS33672.1																																																																																				0.498	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		6	225	0	0	0	0	6	225				
PLXNB2	23654	broad.mit.edu	37	22	50718166	50718166	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:50718166T>A	ENST00000449103.1	-	27	4422	c.4282A>T	c.(4282-4284)Atc>Ttc	p.I1428F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.I1428F			O15031	PLXB2_HUMAN	plexin B2	1428					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGATGTTTGATGGCCTTGAAG	0.622																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4282-4284)ATC>TTC		plexin B2 precursor							144.0	156.0	152.0					22																	50718166		1924	4127	6051	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718166T>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4282A>T	22.37:g.50718166T>A	ENSP00000409171:p.Ile1428Phe					PLXNB2_uc003bkt.1_Missense_Mutation_p.I220F|PLXNB2_uc003bku.1_Missense_Mutation_p.I413F	p.I1428F	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	27	4388	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1428			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4282A>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525127	0.85600	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.17054	2.3;2.3	4.17	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.48077	0.1480	M	0.89534	3.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.60131	-0.7323	10	0.87932	D	0	.	13.6445	0.62272	0.0:0.0:0.0:1.0	.	1428	O15031	PLXB2_HUMAN	F	1428;1428;60	ENSP00000409171:I1428F;ENSP00000352288:I1428F	ENSP00000352288:I1428F	I	-	1	0	PLXNB2	49060293	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	3.823000	0.55715	1.867000	0.54127	0.379000	0.24179	ATC		0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		116	223	0	0	0	0	116	223				
PPP6R2	9701	broad.mit.edu	37	22	50860746	50860746	+	Silent	SNP	C	C	T	rs547118539		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:50860746C>T	ENST00000216061.5	+	10	1279	c.909C>T	c.(907-909)agC>agT	p.S303S	PPP6R2_ENST00000395744.3_Silent_p.S303S|PPP6R2_ENST00000359139.3_Silent_p.S303S|PPP6R2_ENST00000395741.3_Silent_p.S304S			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	303						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCAGCAGCAGCGTACTACACG	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18935	0.0		0.0	False		,,,				2504	0.0					uc003blb.1		NA																	0					0						c.(907-909)AGC>AGT		SAPS domain family, member 2							113.0	101.0	105.0					22																	50860746		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50860746C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.909C>T	22.37:g.50860746C>T						SAPS2_uc003bky.1_Silent_p.S303S|SAPS2_uc003bkz.1_Silent_p.S303S|SAPS2_uc003blc.2_Silent_p.S303S|SAPS2_uc003bla.1_Silent_p.S304S|uc011arw.1_5'Flank	p.S303S	NM_014678	NP_055493	O75170	PP6R2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.222)	10	1331	+		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	303					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.909C>T																																																																																					0.592	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		11	167	0	0	0	0	11	167				
ITPR1	3708	broad.mit.edu	37	3	4829703	4829703	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:4829703G>A	ENST00000443694.2	+	49	6643	c.6643G>A	c.(6643-6645)Gag>Aag	p.E2215K	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.E2215K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2215K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2182K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2167K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2182K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2230					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCTAACCAAGGAGTCAAAACT	0.388																																						uc003bqa.2		NA																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(6544-6546)GAG>AAG		inositol 1,4,5-triphosphate receptor, type 1							72.0	65.0	68.0					3																	4829703		1882	4112	5994	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4829703G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6643G>A	3.37:g.4829703G>A	ENSP00000401671:p.Glu2215Lys					ITPR1_uc010hca.1_Missense_Mutation_p.E2167K|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E1152K	p.E2182K	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	49	6892	+			2230			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.6544G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896391	0.72639	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92199	-2.97;-2.99;-2.98;-2.98;-2.97;-2.97	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.81802	2.56	0.80722	D	1	D;P	0.58268	0.982;0.89	P;P	0.55260	0.772;0.686	D	0.95056	0.8191	10	0.52906	T	0.07	.	19.363	0.94448	0.0:0.0:1.0:0.0	.	2230;2182	Q14643;G5E9P1	ITPR1_HUMAN;.	K	2230;2215;2215;2182;676;2182;2167;2215	ENSP00000306253:E2215K;ENSP00000346595:E2215K;ENSP00000405934:E2182K;ENSP00000349597:E2182K;ENSP00000397885:E2167K;ENSP00000401671:E2215K	ENSP00000306253:E2215K	E	+	1	0	ITPR1	4804703	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	7.797000	0.85911	2.556000	0.86216	0.561000	0.74099	GAG		0.388	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		5	38	0	0	0	0	5	38				
SYN2	6854	broad.mit.edu	37	3	12208791	12208791	+	RNA	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:12208791G>C	ENST00000432424.2	+	0	1210							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCTGGAGCAGATTGCCATGT	0.517																																						uc003bwm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1036-1038)CAG>CAC		synapsin II isoform IIa							86.0	88.0	87.0					3																	12208791		2189	4288	6477			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12208791G>C		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12208791G>C						SYN2_uc003bwl.1_Missense_Mutation_p.Q346H|SYN2_uc003bwn.2_Missense_Mutation_p.Q20H	p.Q346H	NM_133625	NP_598328	Q92777	SYN2_HUMAN			12	1202	+			346					A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37	c.1038G>C		.	.	.	.	.	.	.	.	.	.	G	17.03	3.283730	0.59867	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.82	-0.756	0.11057	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	M	0.91300	3.195	0.24143	N	0.995728	D;D	0.69078	0.997;0.997	D;D	0.79784	0.993;0.988	T	0.65417	-0.6173	9	0.87932	D	0	-10.1888	10.2475	0.43350	0.6276:0.0:0.3724:0.0	.	346;346	Q92777;Q92777-2	SYN2_HUMAN;.	H	278	.	ENSP00000442512:Q278H	Q	+	3	2	SYN2	12183791	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	1.503000	0.35715	-0.074000	0.12820	-0.170000	0.13304	CAG		0.517	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		6	31	0	0	0	0	6	31				
SLC4A7	9497	broad.mit.edu	37	3	27463267	27463267	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:27463267C>T	ENST00000295736.5	-	9	1313	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	SLC4A7_ENST00000437179.1_Missense_Mutation_p.D296N|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000435667.2_Missense_Mutation_p.D300N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.D411N|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000446700.1_Missense_Mutation_p.D407N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.D411N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.D424N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.D296N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.D291N|SLC4A7_ENST00000425128.2_Missense_Mutation_p.D407N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	415					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	AAATTCATATCAACCTATTGA	0.353																																						uc003cdv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1243-1245)GAT>AAT		solute carrier family 4, sodium bicarbonate							47.0	50.0	49.0					3																	27463267		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27463267C>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1243G>A	3.37:g.27463267C>T	ENSP00000295736:p.Asp415Asn					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.D296N|SLC4A7_uc011aww.1_Missense_Mutation_p.D424N|SLC4A7_uc011awx.1_Missense_Mutation_p.D411N|SLC4A7_uc011awy.1_Missense_Mutation_p.D407N|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.D296N|SLC4A7_uc011axb.1_Missense_Mutation_p.D411N|SLC4A7_uc010hfl.2_Intron|SLC4A7_uc003cdw.2_Missense_Mutation_p.D291N	p.D415N	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			9	1314	-			415			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.1243G>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608683	0.66558	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.55	5.55	0.83447	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	N	0.25060	0.705	0.58432	D	0.999992	P;B;P;D;P;B;P;P	0.64830	0.678;0.35;0.541;0.994;0.678;0.301;0.541;0.868	P;P;P;D;P;B;P;P	0.73380	0.631;0.58;0.477;0.98;0.759;0.444;0.477;0.58	T	0.74833	-0.3530	10	0.07030	T	0.85	.	19.5162	0.95167	0.0:1.0:0.0:0.0	.	411;296;407;411;424;291;415;296	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;S4A7_HUMAN;.	N	415;291;424;411;296;407;296;411;300;407;311	ENSP00000295736:D415N;ENSP00000416368:D291N;ENSP00000390394:D424N;ENSP00000414797:D411N;ENSP00000394252:D296N;ENSP00000406605:D407N;ENSP00000407382:D296N;ENSP00000406804:D411N;ENSP00000395336:D300N;ENSP00000401949:D407N;ENSP00000388703:D311N	ENSP00000295736:D415N	D	-	1	0	SLC4A7	27438271	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.737000	0.84957	2.621000	0.88768	0.655000	0.94253	GAT		0.353	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		50	33	0	0	0	0	50	33				
ANO10	55129	broad.mit.edu	37	3	43596801	43596801	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:43596801G>C	ENST00000292246.3	-	10	1807	c.1637C>G	c.(1636-1638)tCa>tGa	p.S546*	ANO10_ENST00000350459.4_Nonsense_Mutation_p.S356*|ANO10_ENST00000396091.3_Nonsense_Mutation_p.S480*|ANO10_ENST00000414522.2_Nonsense_Mutation_p.S546*|ANO10_ENST00000451430.2_Nonsense_Mutation_p.S435*	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	546					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TGAAGGTTCTGAGAATGGACG	0.353																																						uc003cmv.2		NA																	0				ovary(2)	2						c.(1636-1638)TCA>TGA		transmembrane protein 16K							92.0	90.0	91.0					3																	43596801		2203	4300	6503	SO:0001587	stop_gained	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43596801G>C	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1637C>G	3.37:g.43596801G>C	ENSP00000292246:p.Ser546*					ANO10_uc011azs.1_Nonsense_Mutation_p.S546*|ANO10_uc003cmw.2_Nonsense_Mutation_p.S480*|ANO10_uc010hil.2_Nonsense_Mutation_p.S356*|ANO10_uc011azt.1_Nonsense_Mutation_p.S435*	p.S546*	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			10	1808	-			546			Cytoplasmic (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Nonsense_Mutation	SNP	ENST00000292246.3	37	c.1637C>G	CCDS2710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.780666|8.780666	0.98952|0.98952	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000448045|ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.591019	.|0.18452	.|N	.|0.140811	T|.	0.78566|.	0.4303|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79974|.	-0.1577|.	3|.	.|0.72032	.|D	.|0.01	.|.	19.4505|19.4505	0.94865|0.94865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	35|546;356;480;546;435	.|.	.|ENSP00000292246:S546X	Q|S	-|-	1|2	0|0	ANO10|ANO10	43571805|43571805	1.000000|1.000000	0.71417|0.71417	0.825000|0.825000	0.32803|0.32803	0.958000|0.958000	0.62258|0.62258	9.869000|9.869000	0.99810|0.99810	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.353	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		8	112	0	0	0	0	8	112				
LTF	4057	broad.mit.edu	37	3	46482938	46482938	+	Silent	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:46482938C>A	ENST00000231751.4	-	14	1987	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V	LTF_ENST00000493056.1_5'UTR|LTF_ENST00000426532.2_Silent_p.V520V|LTF_ENST00000417439.1_Silent_p.V562V	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	564	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TGACATCTTTCACAAATGCAA	0.403																																						uc003cpq.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1690-1692)GTG>GTT		lactotransferrin precursor	Pefloxacin(DB00487)						147.0	125.0	133.0					3																	46482938		2203	4296	6499	SO:0001819	synonymous_variant	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46482938C>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1692G>T	3.37:g.46482938C>A						LTF_uc003fzr.2_Silent_p.V520V|LTF_uc010hjh.2_Silent_p.V562V|LTF_uc003cpr.2_Silent_p.V551V	p.V564V	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	14	1730	-			564			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	ENST00000231751.4	37	c.1692G>T	CCDS33747.1																																																																																				0.403	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		60	27	1	0	2.04e-18	3.16e-18	60	27				
NBEAL2	23218	broad.mit.edu	37	3	47049354	47049354	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:47049354C>G	ENST00000450053.3	+	49	7735	c.7556C>G	c.(7555-7557)tCa>tGa	p.S2519*	NBEAL2_ENST00000292309.5_Nonsense_Mutation_p.S2335*|NBEAL2_ENST00000383740.2_Nonsense_Mutation_p.S768*	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2519					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TACCTCATCTCAGGCTCCCGG	0.632																																						uc003cqp.2		NA																	0				ovary(1)	1						c.(7555-7557)TCA>TGA		neurobeachin-like 2							71.0	74.0	73.0					3																	47049354		2159	4252	6411	SO:0001587	stop_gained	23218						binding	g.chr3:47049354C>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7556C>G	3.37:g.47049354C>G	ENSP00000415034:p.Ser2519*					NBEAL2_uc010hjm.1_Nonsense_Mutation_p.S1896*|NBEAL2_uc010hjn.1_Nonsense_Mutation_p.S885*|NBEAL2_uc010hjo.1_Nonsense_Mutation_p.S79*	p.S2519*	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	49	7735	+		Acute lymphoblastic leukemia(5;0.0534)	2519			WD 3.		O60288|Q6P994|Q6UX91|Q8NAC9	Nonsense_Mutation	SNP	ENST00000450053.3	37	c.7556C>G	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	48|48	14.674846|14.674846	0.99805|0.99805	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550	.|.	.|.	.|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77143|.	0.4087|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80365|.	-0.1413|.	3|.	.|0.87932	.|D	.|0	.|.	17.485|17.485	0.87684|0.87684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	1807|2335;768;2519;462	.|.	.|ENSP00000292309:S2335X	Q|S	+|+	1|2	0|0	NBEAL2|NBEAL2	47024358|47024358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.270000|7.270000	0.78493|0.78493	2.712000|2.712000	0.92718|0.92718	0.485000|0.485000	0.47835|0.47835	CAG|TCA		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		12	26	0	0	0	0	12	26				
NBEAL2	23218	broad.mit.edu	37	3	47049787	47049787	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:47049787C>G	ENST00000450053.3	+	51	7913	c.7734C>G	c.(7732-7734)atC>atG	p.I2578M	NBEAL2_ENST00000292309.5_Missense_Mutation_p.I2394M|NBEAL2_ENST00000383740.2_Missense_Mutation_p.I827M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2578					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAACTGTGATCATACACACTG	0.602																																						uc003cqp.2		NA																	0				ovary(1)	1						c.(7732-7734)ATC>ATG		neurobeachin-like 2							63.0	59.0	60.0					3																	47049787		2016	4185	6201	SO:0001583	missense	23218						binding	g.chr3:47049787C>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7734C>G	3.37:g.47049787C>G	ENSP00000415034:p.Ile2578Met					NBEAL2_uc010hjm.1_Missense_Mutation_p.I1955M|NBEAL2_uc010hjn.1_Missense_Mutation_p.I944M|NBEAL2_uc010hjo.1_Missense_Mutation_p.I138M	p.I2578M	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	51	7913	+		Acute lymphoblastic leukemia(5;0.0534)	2578			WD 4.		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.7734C>G	CCDS46817.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.29|16.29|16.29	3.080449|3.080449|3.080449	0.55753|0.55753|0.55753	.|.|.	.|.|.	ENSG00000160796|ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000416683	.|T;T;T|.	.|0.60040|.	.|0.22;0.22;0.22|.	5.16|5.16|5.16	3.34|3.34|3.34	0.38264|0.38264|0.38264	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	.|0.051980|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.67088|0.67088|.	0.2856|0.2856|.	M|M|M	0.81682|0.81682|0.81682	2.555|2.555|2.555	0.46149|0.46149|0.46149	D|D|D	0.998899|0.998899|0.998899	.|P;D|.	.|0.64830|.	.|0.639;0.994|.	.|B;D|.	.|0.72625|.	.|0.237;0.978|.	T|T|.	0.67577|0.67577|.	-0.5635|-0.5635|.	5|10|.	.|0.66056|.	.|D|.	.|0.02|.	.|.|.	7.3539|7.3539|7.3539	0.26709|0.26709|0.26709	0.0:0.7349:0.0:0.2651|0.0:0.7349:0.0:0.2651|0.0:0.7349:0.0:0.2651	.|.|.	.|2394;2578|.	.|Q6ZNJ1-2;Q6ZNJ1|.	.|.;NBEL2_HUMAN|.	D|M|X	917|2394;827;2578;521|1866	.|ENSP00000292309:I2394M;ENSP00000373246:I827M;ENSP00000415034:I2578M|.	.|ENSP00000292309:I2394M|.	H|I|S	+|+|+	1|3|2	0|3|0	NBEAL2|NBEAL2|NBEAL2	47024791|47024791|47024791	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.972000|0.972000|0.972000	0.66771|0.66771|0.66771	0.642000|0.642000|0.642000	0.24735|0.24735|0.24735	1.405000|1.405000|1.405000	0.46838|0.46838|0.46838	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	CAT|ATC|TCA		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		9	27	0	0	0	0	9	27				
ZMYND10	51364	broad.mit.edu	37	3	50380755	50380755	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:50380755C>G	ENST00000231749.3	-	5	1765	c.493G>C	c.(493-495)Gac>Cac	p.D165H	ZMYND10_ENST00000360165.3_Missense_Mutation_p.D165H|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	165					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGTTGCTGTCCTGGGATCCC	0.617										TSP Lung(30;0.18)																												uc003dag.1		NA																	0				lung(4)|ovary(1)	5						c.(493-495)GAC>CAC		zinc finger, MYND domain-containing 10							59.0	60.0	60.0					3																	50380755		2203	4299	6502	SO:0001583	missense	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50380755C>G	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.493G>C	3.37:g.50380755C>G	ENSP00000231749:p.Asp165His	TSP Lung(30;0.18)				RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.D165H|ZMYND10_uc003dah.1_Missense_Mutation_p.D86H|ZMYND10_uc010hlm.1_Missense_Mutation_p.D122H	p.D165H	NM_015896	NP_056980	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	5	639	-			165					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	c.493G>C	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	C	3.593	-0.083144	0.07141	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.30981	1.51;1.51;1.51	5.34	0.979	0.19745	.	1.143430	0.06239	N	0.690065	T	0.24967	0.0606	L	0.36672	1.1	0.09310	N	1	B;B	0.19445	0.036;0.001	B;B	0.16722	0.016;0.003	T	0.29822	-0.9999	10	0.34782	T	0.22	-3.8817	8.2847	0.31922	0.1394:0.6867:0.0988:0.0751	.	165;165	O75800-2;O75800	.;ZMY10_HUMAN	H	165;165;122	ENSP00000231749:D165H;ENSP00000353289:D165H;ENSP00000393687:D122H	ENSP00000231749:D165H	D	-	1	0	ZMYND10	50355759	0.006000	0.16342	0.002000	0.10522	0.206000	0.24218	0.290000	0.18975	0.146000	0.19002	0.561000	0.74099	GAC		0.617	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		21	51	0	0	0	0	21	51				
LRIG1	26018	broad.mit.edu	37	3	66460596	66460596	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:66460596T>C	ENST00000273261.3	-	7	1416	c.892A>G	c.(892-894)Att>Gtt	p.I298V	LRIG1_ENST00000383703.3_Missense_Mutation_p.I298V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	298					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCGGTGAATGCGAGCGATG	0.567																																						uc003dmx.2		NA																	0				skin(3)|ovary(2)	5						c.(892-894)ATT>GTT		leucine-rich repeats and immunoglobulin-like							177.0	177.0	177.0					3																	66460596		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66460596T>C	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.892A>G	3.37:g.66460596T>C	ENSP00000273261:p.Ile298Val					LRIG1_uc010hnz.2_Missense_Mutation_p.I38V|LRIG1_uc010hoa.2_Missense_Mutation_p.I298V	p.I298V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	7	906	-		Lung NSC(201;0.0101)	298			Extracellular (Potential).|LRR 10.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.892A>G	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600687	0.66332	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.28895	1.59;1.59	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	L	0.46819	1.47	0.45490	D	0.998459	P;P;P	0.50066	0.931;0.715;0.887	P;B;B	0.51266	0.664;0.348;0.348	T	0.16012	-1.0417	10	0.48119	T	0.1	.	15.2594	0.73610	0.0:0.0:0.0:1.0	.	298;322;298	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	V	298;298;225	ENSP00000273261:I298V;ENSP00000373208:I298V	ENSP00000273261:I298V	I	-	1	0	LRIG1	66543286	1.000000	0.71417	0.122000	0.21767	0.540000	0.34992	4.833000	0.62766	2.069000	0.61940	0.482000	0.46254	ATT		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		141	137	0	0	0	0	141	137				
FRMD4B	23150	broad.mit.edu	37	3	69239050	69239050	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:69239050C>T	ENST00000398540.3	-	18	1851	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	FRMD4B_ENST00000542259.1_Missense_Mutation_p.D536N|FRMD4B_ENST00000478263.1_Missense_Mutation_p.D242N	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	590					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CACTTACGATCATCATAGGTG	0.313																																						uc003dnv.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1768-1770)GAT>AAT		FERM domain containing 4B							84.0	82.0	83.0					3																	69239050		1809	4075	5884	SO:0001583	missense	23150					cytoplasm|cytoskeleton	binding	g.chr3:69239050C>T	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1768G>A	3.37:g.69239050C>T	ENSP00000381549:p.Asp590Asn					FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.D242N|FRMD4B_uc011bga.1_Missense_Mutation_p.D434N	p.D590N	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	18	2058	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	590					Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	c.1768G>A	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104374	0.94245	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.83591	-1.73;-1.74	5.65	5.65	0.86999	.	0.154808	0.56097	D	0.000026	D	0.88314	0.6403	L	0.43152	1.355	0.52099	D	0.99994	P;D	0.71674	0.919;0.998	B;D	0.66847	0.375;0.947	D	0.88511	0.3089	10	0.62326	D	0.03	.	19.7408	0.96230	0.0:1.0:0.0:0.0	.	434;590	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	N	590;536;242	ENSP00000381549:D590N;ENSP00000437658:D536N	ENSP00000381549:D590N	D	-	1	0	FRMD4B	69321740	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	6.523000	0.73787	2.671000	0.90904	0.650000	0.86243	GAT		0.313	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			16	27	0	0	0	0	16	27				
OR5K3	403277	broad.mit.edu	37	3	98109533	98109533	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:98109533G>C	ENST00000383695.1	+	1	24	c.24G>C	c.(22-24)ttG>ttC	p.L8F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L8F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATCACTCCTTGATAGCTGAGT	0.388																																						uc011bgw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(22-24)TTG>TTC		olfactory receptor, family 5, subfamily K,							146.0	132.0	137.0					3																	98109533		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109533G>C		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.24G>C	3.37:g.98109533G>C	ENSP00000373194:p.Leu8Phe						p.L8F	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	24	+			8			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.24G>C	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447031	0.25987	.	.	ENSG00000206536	ENST00000383695	T	0.19394	2.15	5.35	3.52	0.40303	.	0.753469	0.10887	N	0.623124	T	0.13500	0.0327	L	0.31804	0.96	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.38779	-0.9645	10	0.09843	T	0.71	-1.7499	7.4897	0.27454	0.0904:0.1678:0.7419:0.0	.	8	A6NET4	OR5K3_HUMAN	F	8	ENSP00000373194:L8F	ENSP00000373194:L8F	L	+	3	2	OR5K3	99592223	0.000000	0.05858	0.011000	0.14972	0.072000	0.16883	-2.218000	0.01219	0.698000	0.31739	0.603000	0.83216	TTG		0.388	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			24	73	0	0	0	0	24	73				
CD200R1	131450	broad.mit.edu	37	3	112647682	112647682	+	Silent	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:112647682C>A	ENST00000471858.1	-	4	913	c.681G>T	c.(679-681)ctG>ctT	p.L227L	CD200R1_ENST00000295863.4_Silent_p.L205L|CD200R1_ENST00000308611.3_Silent_p.L250L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	227	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCTCTATGTACAGACTCTTGT	0.378																																						uc003dzk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(679-681)CTG>CTT		CD200 receptor 1 isoform d							89.0	81.0	84.0					3																	112647682		2203	4300	6503	SO:0001819	synonymous_variant	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112647682C>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.681G>T	3.37:g.112647682C>A						CD200R1_uc003dzj.1_Silent_p.L250L|CD200R1_uc011bhx.1_Silent_p.L205L	p.L227L	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			4	914	-			227			Ig-like C2-type.|Extracellular (Potential).		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000471858.1	37	c.681G>T	CCDS2970.1																																																																																				0.378	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		20	40	1	0	3.62e-10	5.3e-10	20	40				
TIGIT	201633	broad.mit.edu	37	3	114026751	114026751	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:114026751C>T	ENST00000486257.1	+	5	765	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000481065.1_Missense_Mutation_p.L237F|TIGIT_ENST00000383671.3_Missense_Mutation_p.L170F			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	170					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GAAGAAAGCCCTCAGAATCCA	0.468																																						uc003ebg.1		NA																	0				central_nervous_system(1)	1						c.(508-510)CTC>TTC		T cell immunoreceptor with Ig and ITIM domains							68.0	73.0	71.0					3																	114026751		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114026751C>T	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.508C>T	3.37:g.114026751C>T	ENSP00000419085:p.Leu170Phe						p.L170F	NM_173799	NP_776160	Q495A1	TIGIT_HUMAN			4	542	+			170			Cytoplasmic (Potential).		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.508C>T	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	C	7.627	0.677964	0.14841	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.57595	0.5;0.39;0.45;0.45;0.5	4.2	0.246	0.15516	.	0.822822	0.10444	N	0.673951	T	0.30665	0.0772	N	0.17082	0.46	0.09310	N	1	B	0.26935	0.164	B	0.23852	0.049	T	0.21449	-1.0245	10	0.54805	T	0.06	-3.9759	3.0414	0.06139	0.201:0.476:0.0:0.3229	.	170	Q495A1	TIGIT_HUMAN	F	149;237;170;170;149	ENSP00000418917:L149F;ENSP00000420552:L237F;ENSP00000419085:L170F;ENSP00000373167:L170F;ENSP00000419706:L149F	ENSP00000373167:L170F	L	+	1	0	TIGIT	115509441	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.285000	0.08410	0.026000	0.15269	0.650000	0.86243	CTC		0.468	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		21	111	0	0	0	0	21	111				
CASR	846	broad.mit.edu	37	3	122003103	122003103	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:122003103G>T	ENST00000490131.1	+	7	2674	c.2302G>T	c.(2302-2304)Ggc>Tgc	p.G768C	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.G778C|CASR_ENST00000296154.5_Missense_Mutation_p.G768C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	768					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)	GTGCCACGAGGGCTCCCTCAT	0.587																																						uc003eev.3		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2302-2304)GGC>TGC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						51.0	47.0	48.0					3																	122003103		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.chr3:122003103G>T	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.2302G>T	3.37:g.122003103G>T	ENSP00000418685:p.Gly768Cys					CASR_uc003eew.3_Missense_Mutation_p.G778C	p.G768C	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2674	+			768			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2302G>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.090056	0.76756	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89415	-2.51;-2.51;-2.51	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97311	0.9937	10	0.87932	D	0	.	19.3162	0.94215	0.0:0.0:1.0:0.0	.	778;768	E7ENE0;P41180	.;CASR_HUMAN	C	768;778;768	ENSP00000418685:G768C;ENSP00000420194:G778C;ENSP00000296154:G768C	ENSP00000296154:G768C	G	+	1	0	CASR	123485793	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.864000	0.99589	2.802000	0.96397	0.561000	0.74099	GGC		0.587	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		22	44	1	0	1.11e-12	1.65e-12	22	44				
KALRN	8997	broad.mit.edu	37	3	124390618	124390618	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:124390618C>T	ENST00000291478.5	+	15	1884	c.1721C>T	c.(1720-1722)gCg>gTg	p.A574V	KALRN_ENST00000428018.2_Missense_Mutation_p.A542V|KALRN_ENST00000393496.1_Missense_Mutation_p.A612V|KALRN_ENST00000360013.3_Missense_Mutation_p.A2271V|KALRN_ENST00000459915.1_Missense_Mutation_p.A363V	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2270					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGTTCCTGCGGGCTCAGAG	0.567																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(6811-6813)GCG>GTG		kalirin, RhoGEF kinase isoform 1							75.0	88.0	84.0					3																	124390618		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124390618C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1721C>T	3.37:g.124390618C>T	ENSP00000291478:p.Ala574Val					KALRN_uc003ehi.2_Missense_Mutation_p.A612V|KALRN_uc003ehk.2_Missense_Mutation_p.A574V|KALRN_uc011bjz.1_Missense_Mutation_p.A363V	p.A2271V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			48	6939	+			2270					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6812C>T	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.573|0.573	-0.840443|-0.840443	0.02692|0.02692	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915|ENST00000354186	T;T;T;T;T|.	0.36699|.	1.24;1.24;1.24;1.24;1.24|.	4.39|4.39	-0.805|-0.805	0.10879|0.10879	.|.	1.510900|.	0.04564|.	N|.	0.392084|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.36720|0.36720	-0.9736|-0.9736	10|5	0.17369|.	T|.	0.5|.	.|.	5.2834|5.2834	0.15688|0.15688	0.0:0.2326:0.1397:0.6277|0.0:0.2326:0.1397:0.6277	.|.	363;574;612;2270|.	E7EUZ8;C9JQ37;O60229-5;O60229|.	.;.;.;KALRN_HUMAN|.	V|W	2271;612;574;542;363|2240	ENSP00000353109:A2271V;ENSP00000377134:A612V;ENSP00000291478:A574V;ENSP00000402419:A542V;ENSP00000420318:A363V|.	ENSP00000291478:A574V|.	A|R	+|+	2|1	0|2	KALRN|KALRN	125873308|125873308	0.981000|0.981000	0.34729|0.34729	0.293000|0.293000	0.24932|0.24932	0.676000|0.676000	0.39594|0.39594	2.106000|2.106000	0.41835|0.41835	-0.164000|-0.164000	0.10927|0.10927	-0.606000|-0.606000	0.04082|0.04082	GCG|CGG		0.567	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		20	151	0	0	0	0	20	151				
CLRN1	7401	broad.mit.edu	37	3	150690259	150690259	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:150690259C>T	ENST00000327047.1	-	1	527	c.237G>A	c.(235-237)agG>agA	p.R79R	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.R79R|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	79					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACCGAAAGGGCCTTGCTCCCA	0.473																																						uc003eyk.1		NA																	0					0						c.(235-237)AGG>AGA		clarin 1 isoform a							83.0	69.0	74.0					3																	150690259		2203	4300	6503	SO:0001819	synonymous_variant	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150690259C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.237G>A	3.37:g.150690259C>T						CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	p.R79R	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	528	-			79					D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	c.237G>A	CCDS3153.1																																																																																				0.473	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			56	164	0	0	0	0	56	164				
IFT80	57560	broad.mit.edu	37	3	160099294	160099294	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:160099294C>G	ENST00000326448.7	-	3	688	c.256G>C	c.(256-258)Gat>Cat	p.D86H	RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	86					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACTTACCATCAGAACTTGTG	0.328																																						uc011boy.1		NA																	0				ovary(1)	1						c.(256-258)GAT>CAT		WD repeat domain 56							63.0	63.0	63.0					3																	160099294		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160099294C>G	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.256G>C	3.37:g.160099294C>G	ENSP00000312778:p.Asp86His					IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	p.D86H	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	689	-			86					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.256G>C	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944807	0.92593	.	.	ENSG00000068885	ENST00000326448;ENST00000498409;ENST00000489004	T;T;T	0.78364	0.91;-0.74;-1.17	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.242590	0.26272	U	0.025336	D	0.90270	0.6957	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.90967	0.4817	10	0.87932	D	0	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	86	Q9P2H3	IFT80_HUMAN	H	86	ENSP00000312778:D86H;ENSP00000420001:D86H;ENSP00000418455:D86H	ENSP00000312778:D86H	D	-	1	0	IFT80	161581988	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.466000	0.80914	2.774000	0.95407	0.585000	0.79938	GAT		0.328	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		15	106	0	0	0	0	15	106				
SMC4	10051	broad.mit.edu	37	3	160120573	160120573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:160120573C>A	ENST00000357388.3	+	4	879	c.428C>A	c.(427-429)tCa>tAa	p.S143*	SMC4_ENST00000360111.2_Nonsense_Mutation_p.S143*|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000462787.1_Nonsense_Mutation_p.S143*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.S118*|SMC4_ENST00000344722.5_Nonsense_Mutation_p.S143*|RP11-432B6.3_ENST00000483754.1_Intron|MIR15B_ENST00000385045.1_RNA	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	143					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAAACTCTCAGTATTAATA	0.323																																						uc003fdh.2		NA																	0				ovary(1)|breast(1)	2						c.(427-429)TCA>TAA		SMC4 structural maintenance of chromosomes							82.0	86.0	85.0					3																	160120573		2203	4299	6502	SO:0001587	stop_gained	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160120573C>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.428C>A	3.37:g.160120573C>A	ENSP00000349961:p.Ser143*					IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Nonsense_Mutation_p.S143*|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Nonsense_Mutation_p.S118*|SMC4_uc003fdj.2_Nonsense_Mutation_p.S143*|SMC4_uc010hwd.2_Nonsense_Mutation_p.S143*|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	p.S143*	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		4	541	+			143					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Nonsense_Mutation	SNP	ENST00000357388.3	37	c.428C>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	39	7.611376	0.98390	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7138	19.1303	0.93402	0.0:1.0:0.0:0.0	.	.	.	.	X	143;143;143;143;143;143;18;18;118;143;143;143;71;143	.	ENSP00000341382:S143X	S	+	2	0	SMC4	161603267	1.000000	0.71417	0.737000	0.30932	0.990000	0.78478	7.818000	0.86416	2.514000	0.84764	0.491000	0.48974	TCA		0.323	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			8	262	1	0	0.000274275	0.000368916	8	262				
MYNN	55892	broad.mit.edu	37	3	169492266	169492266	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:169492266C>G	ENST00000349841.5	+	2	846	c.183C>G	c.(181-183)gtC>gtG	p.V61V	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Silent_p.V61V|MYNN_ENST00000356716.4_Silent_p.V61V|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000392733.1_Silent_p.V61V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGAACAATGTCTTTCTTGATC	0.388																																						uc003fft.2		NA																	0				skin(1)	1						c.(181-183)GTC>GTG		myoneurin							153.0	148.0	150.0					3																	169492266		2203	4300	6503	SO:0001819	synonymous_variant	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169492266C>G	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.183C>G	3.37:g.169492266C>G						MYNN_uc011bpm.1_Intron|MYNN_uc003ffu.2_Silent_p.V61V|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Silent_p.V61V	p.V61V	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	612	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		61			BTB.		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	ENST00000349841.5	37	c.183C>G	CCDS3207.1																																																																																				0.388	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		5	380	0	0	0	0	5	380				
NAALADL2	254827	broad.mit.edu	37	3	174814867	174814867	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:174814867A>T	ENST00000454872.1	+	2	459	c.331A>T	c.(331-333)Aca>Tca	p.T111S	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	111						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TACCCATTATACACGATCTGC	0.388																																						uc003fit.2		NA																	0				pancreas(1)	1						c.(331-333)ACA>TCA		N-acetylated alpha-linked acidic dipeptidase 2							80.0	80.0	80.0					3																	174814867		1872	4106	5978	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814867A>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.331A>T	3.37:g.174814867A>T	ENSP00000404705:p.Thr111Ser					NAALADL2_uc003fiu.1_Missense_Mutation_p.T104S	p.T111S	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	418	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	111			Cytoplasmic (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.331A>T	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	9.237	1.037272	0.19669	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.33438	1.47;1.41	5.72	-6.57	0.01842	.	0.904816	0.09359	N	0.812953	T	0.11879	0.0289	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.002	T	0.23511	-1.0186	10	0.41790	T	0.15	0.188	1.1344	0.01752	0.2757:0.1955:0.3197:0.2091	.	94;111	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	S	94;111	ENSP00000409858:T94S;ENSP00000404705:T111S	ENSP00000409858:T94S	T	+	1	0	NAALADL2	176297561	0.001000	0.12720	0.002000	0.10522	0.846000	0.48090	0.050000	0.14120	-0.780000	0.04553	-0.417000	0.06048	ACA		0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		58	233	0	0	0	0	58	233				
NAALADL2	254827	broad.mit.edu	37	3	174951960	174951960	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:174951960C>T	ENST00000454872.1	+	3	913	c.785C>T	c.(784-786)tCa>tTa	p.S262L	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	262						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGCTCTATTCATATGCAGCC	0.428																																						uc003fit.2		NA																	0				pancreas(1)	1						c.(784-786)TCA>TTA		N-acetylated alpha-linked acidic dipeptidase 2							78.0	74.0	75.0					3																	174951960		1932	4138	6070	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174951960C>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.785C>T	3.37:g.174951960C>T	ENSP00000404705:p.Ser262Leu					NAALADL2_uc003fiu.1_Missense_Mutation_p.S255L|NAALADL2_uc010hwy.1_Missense_Mutation_p.S84L	p.S262L	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	3	872	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	262			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.785C>T	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219140	0.58560	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.44083	0.93	5.57	5.57	0.84162	.	0.153077	0.30940	N	0.008579	T	0.46946	0.1419	L	0.54323	1.7	0.33309	D	0.565856	P;P	0.46706	0.551;0.883	B;B	0.43838	0.433;0.255	T	0.60682	-0.7215	10	0.54805	T	0.06	-6.7202	19.6153	0.95632	0.0:1.0:0.0:0.0	.	245;262	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	L	262;69	ENSP00000404705:S262L	ENSP00000314951:S69L	S	+	2	0	NAALADL2	176434654	0.999000	0.42202	0.967000	0.41034	0.556000	0.35491	5.677000	0.68142	2.652000	0.90054	0.650000	0.86243	TCA		0.428	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		26	146	0	0	0	0	26	146				
PIK3CA	5290	broad.mit.edu	37	3	178921521	178921521	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:178921521A>G	ENST00000263967.3	+	5	1160	c.1003A>G	c.(1003-1005)Aga>Gga	p.R335G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	335	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAGTGCACTCAGAATAAAAAT	0.313		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1003-1005)AGA>GGA		phosphoinositide-3-kinase, catalytic, alpha							78.0	79.0	78.0					3																	178921521		1824	4074	5898	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921521A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1003A>G	3.37:g.178921521A>G	ENSP00000263967:p.Arg335Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R335G	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1160	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		335					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1003A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508833	0.64410	.	.	ENSG00000121879	ENST00000263967	T	0.71579	-0.58	5.38	4.18	0.49190	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.048575	0.85682	D	0.000000	T	0.75889	0.3911	M	0.77313	2.365	0.58432	D	0.999999	D	0.54207	0.965	P	0.50049	0.629	T	0.77297	-0.2640	10	0.38643	T	0.18	-17.4545	12.9321	0.58292	0.8201:0.1799:0.0:0.0	.	335	P42336	PK3CA_HUMAN	G	335	ENSP00000263967:R335G	ENSP00000263967:R335G	R	+	1	2	PIK3CA	180404215	0.984000	0.35163	1.000000	0.80357	0.992000	0.81027	2.052000	0.41316	2.153000	0.67306	0.383000	0.25322	AGA		0.313	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	317	0	0	0	0	40	317				
MCCC1	56922	broad.mit.edu	37	3	182790247	182790247	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:182790247G>A	ENST00000265594.4	-	5	544	c.398C>T	c.(397-399)tCa>tTa	p.S133L	MCCC1_ENST00000492597.1_Missense_Mutation_p.S24L|MCCC1_ENST00000539926.1_5'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	133	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CATGTTTTCTGAGAGAAAACC	0.383																																						uc003fle.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(397-399)TCA>TTA		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						51.0	52.0	51.0					3																	182790247		2203	4299	6502	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182790247G>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.398C>T	3.37:g.182790247G>A	ENSP00000265594:p.Ser133Leu					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Intron|MCCC1_uc003flg.2_Missense_Mutation_p.S24L|MCCC1_uc011bqp.1_Missense_Mutation_p.S86L|MCCC1_uc011bqq.1_Missense_Mutation_p.S24L	p.S133L	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		5	535	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		133			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.398C>T	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040234	0.75732	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D	0.98090	-3.79;-4.71;-3.79	5.37	5.37	0.77165	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98041	1.0382	10	0.87932	D	0	.	19.4857	0.95027	0.0:0.0:1.0:0.0	.	86;133	E9PG35;Q96RQ3	.;MCCA_HUMAN	L	133;24;86;86;24	ENSP00000265594:S133L;ENSP00000419898:S24L;ENSP00000420433:S86L	ENSP00000265594:S133L	S	-	2	0	MCCC1	184272941	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.174000	0.94824	2.677000	0.91161	0.561000	0.74099	TCA		0.383	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		14	228	0	0	0	0	14	228				
PAK2	5062	broad.mit.edu	37	3	196509690	196509690	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:196509690C>T	ENST00000327134.3	+	2	495	c.173C>T	c.(172-174)tCa>tTa	p.S58L	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	58					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TCCATATTCTCAGGCACAGAG	0.413																																						uc003fwy.3		NA																	0				ovary(1)|lung(1)	2						c.(172-174)TCA>TTA		p21-activated kinase 2							106.0	110.0	109.0					3																	196509690		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509690C>T	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.173C>T	3.37:g.196509690C>T	ENSP00000314067:p.Ser58Leu						p.S58L	NM_002577	NP_002568	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	495	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		58					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.173C>T	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265699	0.40095	.	.	ENSG00000180370	ENST00000327134	T	0.68765	-0.35	5.21	5.21	0.72293	.	0.204155	0.43416	D	0.000562	T	0.59032	0.2164	L	0.54323	1.7	0.58432	D	0.999999	B	0.19935	0.04	B	0.19946	0.027	T	0.54899	-0.8224	10	0.07030	T	0.85	.	15.1575	0.72755	0.1416:0.8584:0.0:0.0	.	58	Q13177	PAK2_HUMAN	L	58	ENSP00000314067:S58L	ENSP00000314067:S58L	S	+	2	0	PAK2	197994087	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	4.467000	0.60155	2.456000	0.83038	0.655000	0.94253	TCA		0.413	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		32	377	0	0	0	0	32	377				
DLG1	1739	broad.mit.edu	37	3	196846384	196846384	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:196846384C>G	ENST00000419354.1	-	13	1568	c.1282G>C	c.(1282-1284)Gat>Cat	p.D428H	DLG1_ENST00000448528.2_Missense_Mutation_p.D428H|DLG1_ENST00000450955.1_Missense_Mutation_p.D395H|DLG1_ENST00000443183.1_Missense_Mutation_p.D312H|DLG1_ENST00000392382.2_Missense_Mutation_p.D395H|DLG1_ENST00000422288.1_Missense_Mutation_p.D377H|DLG1_ENST00000357674.4_Missense_Mutation_p.D395H|DLG1_ENST00000346964.2_Missense_Mutation_p.D428H|DLG1_ENST00000452595.1_Missense_Mutation_p.D312H|DLG1_ENST00000314062.3_Missense_Mutation_p.D377H			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	428					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACATGGTTATCAACAGGCTGA	0.388																																						uc003fxo.3		NA																	0				ovary(3)	3						c.(1282-1284)GAT>CAT		discs, large homolog 1 isoform 1							67.0	65.0	66.0					3																	196846384		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196846384C>G	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1282G>C	3.37:g.196846384C>G	ENSP00000407531:p.Asp428His					DLG1_uc011bub.1_Missense_Mutation_p.D312H|DLG1_uc011buc.1_Missense_Mutation_p.D312H|DLG1_uc011bud.1_Missense_Mutation_p.D111H|DLG1_uc003fxn.3_Missense_Mutation_p.D428H|DLG1_uc011bue.1_Missense_Mutation_p.D395H|DLG1_uc010ial.2_Missense_Mutation_p.D428H|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.D395H|DLG1_uc010ian.2_Missense_Mutation_p.D295H	p.D428H	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	13	1472	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	428					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.1282G>C	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787767	0.49997	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.14766	2.52;2.54;2.5;2.53;2.5;2.5;2.53;2.49;2.55;2.54;2.48	5.32	5.32	0.75619	PDZ-associated domain of NMDA receptors (1);	0.055726	0.64402	D	0.000001	T	0.33265	0.0857	L	0.54323	1.7	0.80722	D	1	D;B;D;D;D;B;D	0.69078	0.994;0.06;0.979;0.997;0.977;0.059;0.994	D;B;D;D;D;B;D	0.69479	0.914;0.071;0.936;0.964;0.952;0.057;0.914	T	0.01021	-1.1478	10	0.48119	T	0.1	.	17.9827	0.89146	0.0:1.0:0.0:0.0	.	395;312;312;312;395;428;428	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	H	428;428;395;428;377;428;312;377;428;312;395;395;237	ENSP00000345731:D428H;ENSP00000350303:D395H;ENSP00000321087:D377H;ENSP00000407531:D428H;ENSP00000398939:D312H;ENSP00000413238:D377H;ENSP00000391732:D428H;ENSP00000396658:D312H;ENSP00000376187:D395H;ENSP00000411278:D395H;ENSP00000398702:D237H	ENSP00000321087:D377H	D	-	1	0	DLG1	198330781	1.000000	0.71417	0.986000	0.45419	0.890000	0.51754	7.055000	0.76656	2.503000	0.84419	0.655000	0.94253	GAT		0.388	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		13	146	0	0	0	0	13	146				
LPHN3	23284	broad.mit.edu	37	4	62778453	62778453	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:62778453G>A	ENST00000514591.1	+	12	2215	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	LPHN3_ENST00000511324.1_Missense_Mutation_p.R697H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R629H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R697H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R697H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R629H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R697H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R697H|LPHN3_ENST00000512091.2_Missense_Mutation_p.R629H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R697H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R629H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R697H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R629H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R629H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAAGAGAGCGCTCTTGCAGA	0.363																																						uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1885-1887)CGC>CAC		latrophilin 3 precursor							177.0	159.0	164.0					4																	62778453		1836	4094	5930	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62778453G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1886G>A	4.37:g.62778453G>A	ENSP00000422533:p.Arg629His					LPHN3_uc003hcq.3_Missense_Mutation_p.R629H|LPHN3_uc003hct.2_Intron|LPHN3_uc003hcs.1_Intron	p.R629H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			10	2059	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1886G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203155	0.79127	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70986	-0.5;-0.49;-0.52;-0.52;-0.5;-0.49;-0.52;-0.52;-0.5;-0.5;-0.5;-0.52;-0.53;-0.53;-0.51	5.63	5.63	0.86233	.	.	.	.	.	T	0.82176	0.4980	L	0.58101	1.795	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.933	T	0.82932	-0.0212	9	0.66056	D	0.02	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	629;629	E9PE04;Q9HAR2-2	.;.	H	629;629;697;697;629;629;629;697;697;697;629;629;629;697;697;629	ENSP00000423388:R629H;ENSP00000422533:R629H;ENSP00000423787:R697H;ENSP00000425033:R697H;ENSP00000424120:R629H;ENSP00000439831:R629H;ENSP00000421476:R697H;ENSP00000424030:R697H;ENSP00000421372:R697H;ENSP00000425201:R629H;ENSP00000423434:R629H;ENSP00000421627:R629H;ENSP00000420931:R697H;ENSP00000425884:R697H;ENSP00000424258:R629H	ENSP00000280009:R629H	R	+	2	0	LPHN3	62461048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.914000	0.92735	2.645000	0.89757	0.561000	0.74099	CGC		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			50	51	0	0	0	0	50	51				
SLC4A4	8671	broad.mit.edu	37	4	72205125	72205125	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:72205125G>C	ENST00000264485.5	+	4	409	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	SLC4A4_ENST00000340595.3_Missense_Mutation_p.E54Q|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E54Q|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E98Q|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E98Q	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	98					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CATCTTGGGAGAGGAGGATGA	0.552																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(292-294)GAG>CAG		solute carrier family 4, sodium bicarbonate							147.0	149.0	149.0					4																	72205125		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72205125G>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.292G>C	4.37:g.72205125G>C	ENSP00000264485:p.Glu98Gln					SLC4A4_uc010iic.2_Missense_Mutation_p.E98Q|SLC4A4_uc010iib.2_Missense_Mutation_p.E98Q|SLC4A4_uc003hfz.2_Missense_Mutation_p.E98Q|SLC4A4_uc003hgc.3_Missense_Mutation_p.E54Q|SLC4A4_uc003hga.2_5'UTR|SLC4A4_uc003hgb.3_Missense_Mutation_p.E54Q	p.E98Q	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		4	409	+			98			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.292G>C	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655138	0.88056	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.80033	-1.33;-1.33;-0.97;-0.13;-1.31	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	M	0.80508	2.5	0.80722	D	1	D;D;D;D;D	0.69078	0.982;0.986;0.986;0.997;0.991	P;D;P;D;P	0.69142	0.77;0.917;0.885;0.962;0.844	D	0.90336	0.4355	10	0.54805	T	0.06	.	19.3765	0.94512	0.0:0.0:1.0:0.0	.	98;98;54;54;98	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R1	.;.;.;.;S4A4_HUMAN	Q	98;98;98;54;54	ENSP00000264485:E98Q;ENSP00000393557:E98Q;ENSP00000307349:E98Q;ENSP00000422400:E54Q;ENSP00000344272:E54Q	ENSP00000264485:E98Q	E	+	1	0	SLC4A4	72423989	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.869000	0.99810	2.566000	0.86566	0.591000	0.81541	GAG		0.552	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		23	212	0	0	0	0	23	212				
ADAMTS3	9508	broad.mit.edu	37	4	73280591	73280591	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:73280591T>A	ENST00000286657.4	-	4	638	c.602A>T	c.(601-603)tAc>tTc	p.Y201F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	201					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATCTCTTGTAGACAACATG	0.373																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(601-603)TAC>TTC		ADAM metallopeptidase with thrombospondin type 1							170.0	163.0	165.0					4																	73280591		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280591T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.602A>T	4.37:g.73280591T>A	ENSP00000286657:p.Tyr201Phe						p.Y201F	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	639	-			201					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.602A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457558	0.84317	.	.	ENSG00000156140	ENST00000286657	T	0.10477	2.87	5.16	5.16	0.70880	Peptidase M12B, propeptide (1);	0.000000	0.56097	D	0.000030	T	0.21145	0.0509	L	0.56769	1.78	0.44899	D	0.99791	B	0.28350	0.208	B	0.42851	0.4	T	0.02950	-1.1090	10	0.59425	D	0.04	.	14.1697	0.65500	0.0:0.0:0.0:1.0	.	201	O15072	ATS3_HUMAN	F	201	ENSP00000286657:Y201F	ENSP00000286657:Y201F	Y	-	2	0	ADAMTS3	73499455	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.094000	0.76944	1.937000	0.56155	0.533000	0.62120	TAC		0.373	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			44	48	0	0	0	0	44	48				
FRAS1	80144	broad.mit.edu	37	4	79285132	79285132	+	Silent	SNP	C	C	G	rs535942655	byFrequency	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:79285132C>G	ENST00000325942.6	+	22	3086	c.2646C>G	c.(2644-2646)ctC>ctG	p.L882L	FRAS1_ENST00000264895.6_Silent_p.L882L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	882					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L882L(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACACCAACCTCGTGCTGTCCC	0.527																																						uc003hlb.2		NA																	2	Substitution - coding silent(2)		large_intestine(2)	large_intestine(5)	5						c.(2644-2646)CTC>CTG		Fraser syndrome 1							72.0	76.0	75.0					4																	79285132		2096	4230	6326	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79285132C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2646C>G	4.37:g.79285132C>G						FRAS1_uc003hkw.2_Silent_p.L882L	p.L882L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			22	3086	+			882			FU 10.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.2646C>G	CCDS54772.1																																																																																				0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			4	29	0	0	0	0	4	29				
DMP1	1758	broad.mit.edu	37	4	88584164	88584164	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:88584164C>T	ENST00000339673.6	+	6	1333	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.L396F|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	412					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAGTGAGAGCCTCAACTTCTC	0.572																																						uc003hqv.2		NA																	0				pancreas(1)|skin(1)	2						c.(1234-1236)CTC>TTC		dentin matrix acidic phosphoprotein 1 isoform 1							75.0	79.0	78.0					4																	88584164		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584164C>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1234C>T	4.37:g.88584164C>T	ENSP00000340935:p.Leu412Phe					DMP1_uc003hqw.2_Missense_Mutation_p.L396F	p.L412F	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1338	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	412					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1234C>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	C	7.566	0.665710	0.14710	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60040	0.22;0.22	5.32	2.46	0.29980	.	0.893109	0.09597	N	0.780754	T	0.68796	0.3040	M	0.73962	2.25	0.09310	N	1	D;D	0.56521	0.97;0.976	P;P	0.58454	0.839;0.837	T	0.54669	-0.8259	10	0.59425	D	0.04	-4.0051	6.9852	0.24725	0.3966:0.3726:0.2308:0.0	.	396;412	Q13316-2;Q13316	.;DMP1_HUMAN	F	412;396	ENSP00000340935:L412F;ENSP00000282479:L396F	ENSP00000282479:L396F	L	+	1	0	DMP1	88803188	0.393000	0.25237	0.979000	0.43373	0.018000	0.09664	0.555000	0.23422	1.188000	0.43014	0.655000	0.94253	CTC		0.572	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			58	59	0	0	0	0	58	59				
CENPE	1062	broad.mit.edu	37	4	104068734	104068734	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:104068734T>C	ENST00000265148.3	-	29	4002	c.3913A>G	c.(3913-3915)Atg>Gtg	p.M1305V	CENPE_ENST00000380026.3_Missense_Mutation_p.M1280V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1305					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGTTCATTCATTGTTTCCTGA	0.388																																						uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.(3913-3915)ATG>GTG		centromere protein E							192.0	169.0	177.0					4																	104068734		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104068734T>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3913A>G	4.37:g.104068734T>C	ENSP00000265148:p.Met1305Val					CENPE_uc003hxc.1_Missense_Mutation_p.M1280V	p.M1305V	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	29	4003	-			1305			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.3913A>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.368805	0.00209	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.69806	-0.43;-0.43	4.78	-5.86	0.02304	.	.	.	.	.	T	0.36193	0.0958	N	0.10874	0.06	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.43507	-0.9387	9	0.05525	T	0.97	.	9.4971	0.38995	0.0:0.5459:0.1227:0.3314	.	1280;1305	Q02224-3;Q02224	.;CENPE_HUMAN	V	1305;1305;1280	ENSP00000265148:M1305V;ENSP00000369365:M1280V	ENSP00000265148:M1305V	M	-	1	0	CENPE	104288183	0.000000	0.05858	0.001000	0.08648	0.382000	0.30200	-1.916000	0.01576	-1.152000	0.02832	-1.463000	0.01021	ATG		0.388	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				44	40	0	0	0	0	44	40				
COL25A1	84570	broad.mit.edu	37	4	109822296	109822296	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:109822296C>T	ENST00000399132.1	-	14	1343	c.813G>A	c.(811-813)caG>caA	p.Q271Q	COL25A1_ENST00000399127.1_Silent_p.Q267Q|COL25A1_ENST00000399126.1_Silent_p.Q271Q	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTATTCCATTCTGTCCTACTG	0.348																																						uc003hze.1		NA																	0				ovary(2)	2						c.(811-813)CAG>CAA		collagen, type XXV, alpha 1 isoform 1							99.0	93.0	95.0					4																	109822296		1859	4106	5965	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109822296C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.813G>A	4.37:g.109822296C>T						COL25A1_uc003hzg.2_Silent_p.Q271Q|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Silent_p.Q52Q	p.Q271Q	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	13	1344	-		Hepatocellular(203;0.217)	271			Extracellular (Potential).|Collagen-like 3.			Silent	SNP	ENST00000399132.1	37	c.813G>A	CCDS43258.1																																																																																				0.348	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		15	50	0	0	0	0	15	50				
KIAA1109	84162	broad.mit.edu	37	4	123155982	123155982	+	Silent	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:123155982A>G	ENST00000264501.4	+	27	3751	c.3378A>G	c.(3376-3378)aaA>aaG	p.K1126K	KIAA1109_ENST00000455637.1_Silent_p.K1126K|KIAA1109_ENST00000388738.3_Silent_p.K1126K|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1126					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGAAACAAATGTGGTTGTC	0.393																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3376-3378)AAA>AAG		fragile site-associated protein							151.0	149.0	149.0					4																	123155982		1858	4093	5951	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123155982A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3378A>G	4.37:g.123155982A>G						KIAA1109_uc003iei.1_Silent_p.K879K|KIAA1109_uc010ins.1_Silent_p.K469K	p.K1126K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			25	3423	+			1126					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.3378A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	8.728	0.915963	0.17907	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.22	1.17	0.20885	.	.	.	.	.	T	0.56963	0.2021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47446	-0.9117	4	.	.	.	.	8.6674	0.34130	0.4071:0.0:0.5929:0.0	.	.	.	.	V	958	.	.	M	+	1	0	KIAA1109	123375432	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	1.032000	0.30178	-0.105000	0.12132	-0.376000	0.06991	ATG		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		50	54	0	0	0	0	50	54				
SPATA5	166378	broad.mit.edu	37	4	123855336	123855336	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:123855336G>T	ENST00000274008.4	+	5	659	c.590G>T	c.(589-591)gGg>gTg	p.G197V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	197					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CGAGTGAAAGGGGCAGATGGC	0.463																																						uc003iez.3		NA																	0					0						c.(589-591)GGG>GTG		spermatogenesis associated 5							93.0	90.0	91.0					4																	123855336		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855336G>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.590G>T	4.37:g.123855336G>T	ENSP00000274008:p.Gly197Val					SPATA5_uc003iey.2_Missense_Mutation_p.G196V	p.G197V	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			5	663	+			197					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.590G>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523296	0.85600	.	.	ENSG00000145375	ENST00000274008	D	0.96334	-3.98	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97900	1.0302	10	0.59425	D	0.04	-25.3417	20.0281	0.97530	0.0:0.0:1.0:0.0	.	197;197	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	V	197	ENSP00000274008:G197V	ENSP00000274008:G197V	G	+	2	0	SPATA5	124074786	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	7.763000	0.85283	2.818000	0.97014	0.655000	0.94253	GGG		0.463	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		30	42	1	0	1.81e-10	2.65e-10	30	42				
HSPA4L	22824	broad.mit.edu	37	4	128741604	128741604	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128741604G>C	ENST00000296464.4	+	14	2107	c.1696G>C	c.(1696-1698)Gac>Cac	p.D566H	HSPA4L_ENST00000505726.1_Missense_Mutation_p.D540H|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000439123.2_Missense_Mutation_p.D597H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D566H	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	566					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGACAAACAAGACCGATTAAA	0.338																																						uc003ifm.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1696-1698)GAC>CAC		heat shock 70kDa protein 4-like							53.0	51.0	52.0					4																	128741604		2203	4299	6502	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128741604G>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1696G>C	4.37:g.128741604G>C	ENSP00000296464:p.Asp566His					HSPA4L_uc010iny.1_Missense_Mutation_p.D525H|HSPA4L_uc011cgr.1_Missense_Mutation_p.D533H	p.D566H	NM_014278	NP_055093	O95757	HS74L_HUMAN			14	1949	+			566					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.1696G>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272377	0.80580	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01106	5.33;5.33;5.33;5.33;5.33	4.45	4.45	0.53987	.	0.920320	0.09280	N	0.823833	T	0.04318	0.0119	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.993;0.993	D;D;D	0.76575	0.988;0.922;0.922	T	0.63659	-0.6587	10	0.48119	T	0.1	.	17.2994	0.87178	0.0:0.0:1.0:0.0	.	540;566;566	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	H	566;597;566;525;540	ENSP00000422482:D566H;ENSP00000393926:D597H;ENSP00000296464:D566H;ENSP00000427305:D525H;ENSP00000425645:D540H	ENSP00000296464:D566H	D	+	1	0	HSPA4L	128961054	1.000000	0.71417	0.992000	0.48379	0.780000	0.44128	5.876000	0.69667	2.308000	0.77769	0.650000	0.86243	GAC		0.338	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		14	27	0	0	0	0	14	27				
HSPA4L	22824	broad.mit.edu	37	4	128743942	128743942	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128743942G>T	ENST00000296464.4	+	15	2242	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	HSPA4L_ENST00000505726.1_Missense_Mutation_p.D585Y|HSPA4L_ENST00000439123.2_Missense_Mutation_p.D642Y|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D611Y	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	611					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATCATGCAAGATAAGTTAGA	0.348																																						uc003ifm.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1831-1833)GAT>TAT		heat shock 70kDa protein 4-like							63.0	63.0	63.0					4																	128743942		2203	4299	6502	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128743942G>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1831G>T	4.37:g.128743942G>T	ENSP00000296464:p.Asp611Tyr					HSPA4L_uc011cgr.1_Missense_Mutation_p.D578Y	p.D611Y	NM_014278	NP_055093	O95757	HS74L_HUMAN			15	2084	+			611					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.1831G>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337541	0.81911	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69888	-0.5023	10	0.87932	D	0	.	18.4186	0.90579	0.0:0.0:1.0:0.0	.	585;611	E9PDE8;O95757	.;HS74L_HUMAN	Y	611;642;611;585	ENSP00000422482:D611Y;ENSP00000393926:D642Y;ENSP00000296464:D611Y;ENSP00000425645:D585Y	ENSP00000296464:D611Y	D	+	1	0	HSPA4L	128963392	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.753000	0.91637	2.596000	0.87737	0.585000	0.79938	GAT		0.348	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		16	26	1	0	4.75e-09	6.86e-09	16	26				
HSPA4L	22824	broad.mit.edu	37	4	128748493	128748493	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128748493G>C	ENST00000296464.4	+	17	2491	c.2080G>C	c.(2080-2082)Gag>Cag	p.E694Q	HSPA4L_ENST00000505726.1_Missense_Mutation_p.E668Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E725Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E694Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	694					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAAGTACATGGAGCATGAAGA	0.318																																						uc003ifm.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2080-2082)GAG>CAG		heat shock 70kDa protein 4-like							105.0	103.0	104.0					4																	128748493		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128748493G>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2080G>C	4.37:g.128748493G>C	ENSP00000296464:p.Glu694Gln					HSPA4L_uc011cgr.1_Missense_Mutation_p.E661Q	p.E694Q	NM_014278	NP_055093	O95757	HS74L_HUMAN			17	2333	+			694					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.2080G>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616071	0.87359	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	T	0.56080	-0.8038	10	0.72032	D	0.01	.	17.3268	0.87251	0.0:0.0:1.0:0.0	.	668;694	E9PDE8;O95757	.;HS74L_HUMAN	Q	694;725;694;668	ENSP00000422482:E694Q;ENSP00000393926:E725Q;ENSP00000296464:E694Q;ENSP00000425645:E668Q	ENSP00000296464:E694Q	E	+	1	0	HSPA4L	128967943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.840000	0.92125	2.408000	0.81797	0.462000	0.41574	GAG		0.318	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		21	53	0	0	0	0	21	53				
MFSD8	256471	broad.mit.edu	37	4	128865017	128865017	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128865017G>C	ENST00000296468.3	-	5	456	c.329C>G	c.(328-330)tCc>tGc	p.S110C	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Missense_Mutation_p.S65C|MFSD8_ENST00000513559.1_Missense_Mutation_p.S65C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	110					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AATCAAGATGGAGACAATAAG	0.423																																						uc003ifp.2		NA																	0				ovary(1)|liver(1)	2						c.(328-330)TCC>TGC		major facilitator superfamily domain containing							118.0	117.0	118.0					4																	128865017		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128865017G>C	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.329C>G	4.37:g.128865017G>C	ENSP00000296468:p.Ser110Cys					MFSD8_uc011cgu.1_Missense_Mutation_p.S65C|MFSD8_uc011cgv.1_Missense_Mutation_p.S110C|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Missense_Mutation_p.S65C	p.S110C	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			5	492	-			110			Helical; (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.329C>G	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701597	0.48307	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	T;T;T	0.60920	0.15;0.15;0.15	5.36	5.36	0.76844	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.974;0.999	T	0.76580	-0.2907	10	0.49607	T	0.09	-12.0788	19.1656	0.93555	0.0:0.0:1.0:0.0	.	65;110;110	B7Z2B2;B7Z280;Q8NHS3	.;.;MFSD8_HUMAN	C	110;65;65	ENSP00000296468:S110C;ENSP00000425000:S65C;ENSP00000439616:S65C	ENSP00000296468:S110C	S	-	2	0	MFSD8	129084467	1.000000	0.71417	0.877000	0.34402	0.011000	0.07611	8.650000	0.91073	2.518000	0.84900	0.551000	0.68910	TCC		0.423	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		3	75	0	0	0	0	3	75				
NPY1R	4886	broad.mit.edu	37	4	164247211	164247211	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:164247211C>T	ENST00000296533.2	-	2	1027	c.496G>A	c.(496-498)Gct>Act	p.A166T	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	166					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAGCCACAGCAAGGACCCAA	0.433																																						uc003iqm.1		NA																	0				lung(1)|pancreas(1)	2						c.(496-498)GCT>ACT		neuropeptide Y receptor Y1							128.0	118.0	121.0					4																	164247211		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247211C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.496G>A	4.37:g.164247211C>T	ENSP00000354652:p.Ala166Thr					NPY1R_uc011cjj.1_Intron	p.A166T	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	762	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	166			Helical; Name=4; (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.496G>A	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209336	0.79240	.	.	ENSG00000164128	ENST00000296533	T	0.41758	0.99	5.84	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.062852	0.64402	D	0.000008	T	0.63593	0.2524	M	0.91818	3.245	0.80722	D	1	P	0.49358	0.923	P	0.49799	0.622	T	0.74144	-0.3760	10	0.87932	D	0	.	17.6816	0.88245	0.1311:0.8689:0.0:0.0	.	166	P25929	NPY1R_HUMAN	T	166	ENSP00000354652:A166T	ENSP00000354652:A166T	A	-	1	0	NPY1R	164466661	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	6.023000	0.70848	2.771000	0.95319	0.655000	0.94253	GCT		0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			30	39	0	0	0	0	30	39				
GPM6A	2823	broad.mit.edu	37	4	176573001	176573001	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:176573001C>T	ENST00000280187.7	-	5	570	c.525G>A	c.(523-525)ttG>ttA	p.L175L	GPM6A_ENST00000515090.1_Silent_p.L168L|GPM6A_ENST00000506894.1_Silent_p.L164L|GPM6A_ENST00000393658.2_Silent_p.L175L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	175					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GACGAAGGTCCAAGCAGAGAT	0.438																																						uc003iuf.2		NA																	0					0						c.(523-525)TTG>TTA		glycoprotein M6A isoform 2							143.0	135.0	138.0					4																	176573001		2203	4300	6503	SO:0001819	synonymous_variant	2823					cell surface|integral to membrane		g.chr4:176573001C>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.525G>A	4.37:g.176573001C>T						GPM6A_uc011ckj.1_Silent_p.L168L|GPM6A_uc003iug.2_Silent_p.L175L|GPM6A_uc003iuh.2_Silent_p.L164L	p.L175L	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	4	1329	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	175			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Silent	SNP	ENST00000280187.7	37	c.525G>A	CCDS3824.1																																																																																				0.438	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			10	141	0	0	0	0	10	141				
FAT1	2195	broad.mit.edu	37	4	187521277	187521277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:187521277C>A	ENST00000441802.2	-	22	12087	c.11878G>T	c.(11878-11880)Gga>Tga	p.G3960*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3960	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCCTTGTTCCCTGCTGACGG	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11878-11880)GGA>TGA		FAT tumor suppressor 1 precursor							129.0	130.0	130.0					4																	187521277		1978	4153	6131	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521277C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11878G>T	4.37:g.187521277C>A	ENSP00000406229:p.Gly3960*	HNSCC(5;0.00058)				FAT1_uc003ize.2_5'Flank	p.G3960*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			22	12066	-			3960			Extracellular (Potential).|Laminin G-like.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.11878G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	52	19.973130	0.99925	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.94	4.1	0.47936	.	0.211834	0.39475	N	0.001344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	13.6723	0.62432	0.0:0.9255:0.0:0.0745	.	.	.	.	X	3960;3962	.	ENSP00000260147:G3962X	G	-	1	0	FAT1	187758271	1.000000	0.71417	0.962000	0.40283	0.234000	0.25298	3.379000	0.52440	1.448000	0.47680	0.655000	0.94253	GGA		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		60	70	1	0	6.1e-20	9.6e-20	60	70				
SEMA5A	9037	broad.mit.edu	37	5	9066745	9066745	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:9066745C>A	ENST00000382496.5	-	17	2752	c.2087G>T	c.(2086-2088)tGc>tTc	p.C696F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	696	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTTGGTGTTGCAAGACTGGTA	0.537																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2086-2088)TGC>TTC		semaphorin 5A precursor							138.0	126.0	130.0					5																	9066745		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066745C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2087G>T	5.37:g.9066745C>A	ENSP00000371936:p.Cys696Phe						p.C696F	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			17	2799	-			696			TSP type-1 3.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2087G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731158	0.89390	.	.	ENSG00000112902	ENST00000382496	D	0.96491	-4.03	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	H	0.99273	4.495	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98977	1.0803	10	0.87932	D	0	.	17.2904	0.87154	0.0:1.0:0.0:0.0	.	696	Q13591	SEM5A_HUMAN	F	696	ENSP00000371936:C696F	ENSP00000371936:C696F	C	-	2	0	SEMA5A	9119745	1.000000	0.71417	0.988000	0.46212	0.942000	0.58702	7.511000	0.81718	2.761000	0.94854	0.591000	0.81541	TGC		0.537	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			78	178	1	0	4.63e-29	7.55e-29	78	178				
CTNND2	1501	broad.mit.edu	37	5	11023077	11023077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:11023077G>A	ENST00000304623.8	-	17	2992	c.2803C>T	c.(2803-2805)Cga>Tga	p.R935*	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R844*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R877*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R598*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R502*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	935					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTAGGTCTCGCATGGCGTAT	0.512																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2803-2805)CGA>TGA		catenin (cadherin-associated protein), delta 2							139.0	112.0	121.0					5																	11023077		2203	4300	6503	SO:0001587	stop_gained	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11023077G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2803C>T	5.37:g.11023077G>A	ENSP00000307134:p.Arg935*					CTNND2_uc010itt.2_Nonsense_Mutation_p.R844*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R598*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R502*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R527*	p.R935*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			17	2948	-			935					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	c.2803C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	44	10.659244	0.99445	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	.	.	.	5.81	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7285	15.6874	0.77421	0.0:0.0:0.6626:0.3374	.	.	.	.	X	935;877;844;30;502;598	.	ENSP00000307134:R935X	R	-	1	2	CTNND2	11076077	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.208000	0.32345	1.433000	0.47394	0.655000	0.94253	CGA		0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		63	74	0	0	0	0	63	74				
CTNND2	1501	broad.mit.edu	37	5	11346514	11346514	+	Missense_Mutation	SNP	G	G	T	rs201675268	byFrequency	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:11346514G>T	ENST00000304623.8	-	9	1787	c.1598C>A	c.(1597-1599)cCg>cAg	p.P533Q	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.P442Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.P533Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.P196Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.P100Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	533					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCAATGGACGGGGACCTGGC	0.493																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1597-1599)CCG>CAG		catenin (cadherin-associated protein), delta 2							88.0	97.0	94.0					5																	11346514		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346514G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1598C>A	5.37:g.11346514G>T	ENSP00000307134:p.Pro533Gln					CTNND2_uc010itt.2_Missense_Mutation_p.P442Q|CTNND2_uc011cmy.1_Missense_Mutation_p.P196Q|CTNND2_uc011cmz.1_Missense_Mutation_p.P100Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P100Q	p.P533Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1743	-			533					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1598C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155451	0.94686	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79845	-1.21;-1.31;-1.19;-1.23;-1.22	5.68	5.68	0.88126	.	0.063358	0.64402	D	0.000004	D	0.89079	0.6613	M	0.69823	2.125	0.58432	D	0.999998	P;P;D	0.71674	0.95;0.745;0.998	P;B;D	0.64595	0.489;0.393;0.927	D	0.89562	0.3807	10	0.87932	D	0	-12.7843	19.8436	0.96701	0.0:0.0:1.0:0.0	.	196;100;533	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	Q	533;533;442;100;196	ENSP00000307134:P533Q;ENSP00000352661:P533Q;ENSP00000426510:P442Q;ENSP00000391155:P100Q;ENSP00000426887:P196Q	ENSP00000307134:P533Q	P	-	2	0	CTNND2	11399514	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	9.434000	0.97515	2.693000	0.91896	0.585000	0.79938	CCG		0.493	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		105	163	1	0	3.01e-58	5.12e-58	105	163				
MYO10	4651	broad.mit.edu	37	5	16783479	16783479	+	Missense_Mutation	SNP	C	C	A	rs560083994		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:16783479C>A	ENST00000513610.1	-	5	1021	c.567G>T	c.(565-567)aaG>aaT	p.K189N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	189	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACAGGATGTCTTCTCCTTTA	0.378																																						uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(565-567)AAG>AAT		myosin X							88.0	80.0	83.0					5																	16783479		1867	4107	5974	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16783479C>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.567G>T	5.37:g.16783479C>A	ENSP00000421280:p.Lys189Asn					MYO10_uc003jfu.2_Missense_Mutation_p.K156N	p.K189N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			5	1035	-			189			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.567G>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575405	0.45902	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000502436	D;D;D	0.87571	-2.27;-2.27;-2.27	5.52	5.52	0.82312	Myosin head, motor domain (2);	.	.	.	.	D	0.83672	0.5305	L	0.35593	1.075	0.80722	D	1	B;B	0.17667	0.006;0.023	B;B	0.27380	0.029;0.079	T	0.77595	-0.2529	9	0.31617	T	0.26	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	156;189	E9PCN3;Q9HD67	.;MYO10_HUMAN	N	189;200;156	ENSP00000421280:K189N;ENSP00000421309:K200N;ENSP00000426783:K156N	ENSP00000426783:K156N	K	-	3	2	MYO10	16836479	0.949000	0.32298	0.982000	0.44146	0.980000	0.70556	0.806000	0.27126	2.595000	0.87683	0.655000	0.94253	AAG		0.378	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		9	23	1	0	1.77e-08	2.53e-08	9	23				
CDH9	1007	broad.mit.edu	37	5	26890642	26890642	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:26890642G>T	ENST00000231021.4	-	8	1457	c.1285C>A	c.(1285-1287)Cgt>Agt	p.R429S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAAAAATACGGTCCATATCA	0.403																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1285-1287)CGT>AGT		cadherin 9, type 2 preproprotein							94.0	95.0	95.0					5																	26890642		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890642G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1285C>A	5.37:g.26890642G>T	ENSP00000231021:p.Arg429Ser					CDH9_uc011cnv.1_Missense_Mutation_p.R22S	p.R429S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			8	1454	-			429			Extracellular (Potential).|Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1285C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895471	0.52121	.	.	ENSG00000113100	ENST00000231021	T	0.52526	0.66	5.09	1.95	0.26073	Cadherin (4);Cadherin-like (1);	0.052671	0.64402	D	0.000001	T	0.33206	0.0855	L	0.31065	0.9	0.35652	D	0.811851	B;B	0.29136	0.054;0.234	B;B	0.36030	0.051;0.216	T	0.24048	-1.0171	9	.	.	.	.	6.364	0.21445	0.097:0.0:0.3644:0.5386	.	22;429	B4DFP0;Q9ULB4	.;CADH9_HUMAN	S	429	ENSP00000231021:R429S	.	R	-	1	0	CDH9	26926399	0.955000	0.32602	1.000000	0.80357	0.784000	0.44337	0.700000	0.25601	0.548000	0.28955	0.453000	0.30009	CGT		0.403	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		33	92	1	0	1.41e-09	2.05e-09	33	92				
AGXT2	64902	broad.mit.edu	37	5	35039554	35039554	+	Silent	SNP	C	C	T	rs371190707		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:35039554C>T	ENST00000231420.6	-	3	437	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	79					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GGAAATATGCCGTCACCACAG	0.473																																						uc003jjf.2		NA																	0				ovary(3)|skin(1)	4						c.(235-237)ACG>ACA		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	C		1,4405	2.1+/-5.4	0,1,2202	83.0	87.0	85.0		237	-10.9	0.0	5		85	0,8600		0,0,4300	no	coding-synonymous	AGXT2	NM_031900.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		79/515	35039554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35039554C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.237G>A	5.37:g.35039554C>T						AGXT2_uc011com.1_Silent_p.T79T|AGXT2_uc011con.1_5'UTR	p.T79T	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	3	316	-	all_lung(31;4.52e-05)		79					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	c.237G>A	CCDS3908.1																																																																																				0.473	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		38	102	0	0	0	0	38	102				
MROH2B	133558	broad.mit.edu	37	5	41055916	41055916	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:41055916G>T	ENST00000399564.4	-	10	1411	c.961C>A	c.(961-963)Caa>Aaa	p.Q321K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	321																	CTTCTTACTTGTTCATCAAAA	0.403																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(961-963)CAA>AAA		HEAT repeat family member 7B2							109.0	106.0	107.0					5																	41055916		1838	4094	5932	SO:0001583	missense	133558						binding	g.chr5:41055916G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.961C>A	5.37:g.41055916G>T	ENSP00000382476:p.Gln321Lys					HEATR7B2_uc003jmi.3_Intron	p.Q321K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			10	1451	-			321			HEAT 4.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.961C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020957	0.75275	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.67345	-0.26	4.87	4.87	0.63330	Armadillo-type fold (1);	0.000000	0.48767	D	0.000161	T	0.66228	0.2768	L	0.41573	1.285	0.34556	D	0.711846	P	0.51933	0.949	P	0.58721	0.844	T	0.64262	-0.6449	10	0.02654	T	1	.	13.3826	0.60778	0.0:0.0:1.0:0.0	.	321	Q7Z745	HTRB2_HUMAN	K	25;321	ENSP00000382476:Q321K	ENSP00000296803:Q25K	Q	-	1	0	HEATR7B2	41091673	1.000000	0.71417	0.998000	0.56505	0.752000	0.42762	3.124000	0.50461	2.552000	0.86080	0.462000	0.41574	CAA		0.403	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		35	122	1	0	9.78e-24	1.58e-23	35	122				
FST	10468	broad.mit.edu	37	5	52778754	52778754	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:52778754G>A	ENST00000256759.3	+	2	513	c.130G>A	c.(130-132)Gtc>Atc	p.V44I	FST_ENST00000396947.3_Missense_Mutation_p.V44I	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	44	TB.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CCGCTGCCAGGTCCTGTACAA	0.617											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jpd.2		NA																	0					0						c.(130-132)GTC>ATC		follistatin isoform FST344 precursor							50.0	47.0	48.0					5																	52778754		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52778754G>A	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.130G>A	5.37:g.52778754G>A	ENSP00000256759:p.Val44Ile		OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	FST_uc003jpc.2_Missense_Mutation_p.V44I	p.V44I	NM_013409	NP_037541	P19883	FST_HUMAN			2	157	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	44			TB.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.130G>A	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298679	0.60195	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947	D;D	0.92495	-3.05;-3.05	4.8	4.8	0.61643	Matrix fibril-associated (1);TGF-beta binding (1);	0.115001	0.64402	D	0.000017	D	0.88662	0.6497	L	0.51422	1.61	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84974	0.0884	10	0.37606	T	0.19	-13.196	12.3211	0.54985	0.0823:0.0:0.9177:0.0	.	44	P19883	FST_HUMAN	I	44	ENSP00000256759:V44I;ENSP00000380151:V44I	ENSP00000256759:V44I	V	+	1	0	FST	52814511	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.128000	0.71650	2.229000	0.72834	0.491000	0.48974	GTC		0.617	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		7	61	0	0	0	0	7	61				
MAP1B	4131	broad.mit.edu	37	5	71501008	71501008	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:71501008G>A	ENST00000296755.7	+	7	7647	c.7349G>A	c.(7348-7350)aGc>aAc	p.S2450N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2450	Mediates interaction with TMEM185A.				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTTTTAGCAAGCAGCAGCACA	0.468																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(7348-7350)AGC>AAC		microtubule-associated protein 1B							197.0	170.0	179.0					5																	71501008		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71501008G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.7349G>A	5.37:g.71501008G>A	ENSP00000296755:p.Ser2450Asn						p.S2450N	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	7	7590	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2450					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.7349G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218383	0.58560	.	.	ENSG00000131711	ENST00000296755	T	0.12569	2.67	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.43389	0.1245	M	0.84326	2.69	0.49798	D	0.999829	D	0.76494	0.999	D	0.80764	0.994	T	0.42666	-0.9438	10	0.87932	D	0	-14.9612	19.0691	0.93125	0.0:0.0:1.0:0.0	.	2450	P46821	MAP1B_HUMAN	N	2450	ENSP00000296755:S2450N	ENSP00000296755:S2450N	S	+	2	0	MAP1B	71536764	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.567000	0.98161	2.822000	0.97130	0.650000	0.86243	AGC		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		10	211	0	0	0	0	10	211				
AP3B1	8546	broad.mit.edu	37	5	77311320	77311320	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:77311320C>A	ENST00000255194.6	-	26	3220	c.3045G>T	c.(3043-3045)caG>caT	p.Q1015H	AP3B1_ENST00000519295.1_Missense_Mutation_p.Q966H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1015					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAGTGAAATTCTGTGGTGCAG	0.393									Hermansky-Pudlak syndrome																													uc003kfj.2		NA																	0				central_nervous_system(1)	1						c.(3043-3045)CAG>CAT		adaptor-related protein complex 3, beta 1							110.0	108.0	109.0					5																	77311320		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77311320C>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3045G>T	5.37:g.77311320C>A	ENSP00000255194:p.Gln1015His						p.Q1015H	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	26	3170	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1015					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.3045G>T	CCDS4041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.714851|2.714851	0.48622|0.48622	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.56275|.	0.47;0.47|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.363388|.	0.29307|.	N|.	0.012525|.	T|T	0.61652|0.61652	0.2364|0.2364	L|L	0.50333|0.50333	1.59|1.59	0.37601|0.37601	D|D	0.920561|0.920561	P|.	0.43169|.	0.8|.	B|.	0.41723|.	0.365|.	T|T	0.63642|0.63642	-0.6591|-0.6591	10|5	0.46703|.	T|.	0.11|.	-11.9406|-11.9406	12.655|12.655	0.56782|0.56782	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	1015|.	O00203|.	AP3B1_HUMAN|.	H|I	1015;966|115	ENSP00000255194:Q1015H;ENSP00000430597:Q966H|.	ENSP00000255194:Q1015H|.	Q|R	-|-	3|2	2|0	AP3B1|AP3B1	77347076|77347076	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	2.051000|2.051000	0.41307|0.41307	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.393	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			74	34	1	0	2.05e-37	3.42e-37	74	34				
ACOT12	134526	broad.mit.edu	37	5	80640770	80640770	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:80640770G>A	ENST00000307624.3	-	8	892	c.864C>T	c.(862-864)taC>taT	p.Y288Y	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	288	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAGCAGCATTGTAAATGAGAA	0.488																																						uc003khl.3		NA																	0				ovary(1)|kidney(1)	2						c.(862-864)TAC>TAT		acyl-CoA thioesterase 12							134.0	130.0	131.0					5																	80640770		2203	4300	6503	SO:0001819	synonymous_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80640770G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.864C>T	5.37:g.80640770G>A						RNU5E_uc011cto.1_Intron	p.Y288Y	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	8	919	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	288			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Silent	SNP	ENST00000307624.3	37	c.864C>T	CCDS4055.1																																																																																				0.488	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		49	118	0	0	0	0	49	118				
GPR98	84059	broad.mit.edu	37	5	90106677	90106677	+	Silent	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:90106677T>A	ENST00000405460.2	+	74	15696	c.15600T>A	c.(15598-15600)gcT>gcA	p.A5200A	GPR98_ENST00000425867.2_Silent_p.A861A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5200					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCACACCTGCTGTGTCTGAAA	0.478																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15598-15600)GCT>GCA		G protein-coupled receptor 98 precursor							85.0	83.0	84.0					5																	90106677		1982	4182	6164	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106677T>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15600T>A	5.37:g.90106677T>A						GPR98_uc003kjt.2_Silent_p.A2906A|GPR98_uc003kjw.2_Silent_p.A861A	p.A5200A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15696	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5200			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.15600T>A	CCDS47246.1																																																																																				0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		55	116	0	0	0	0	55	116				
GPR98	84059	broad.mit.edu	37	5	90106682	90106682	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:90106682C>A	ENST00000405460.2	+	74	15701	c.15605C>A	c.(15604-15606)tCt>tAt	p.S5202Y	GPR98_ENST00000425867.2_Missense_Mutation_p.S863Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5202					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGCTGTGTCTGAAAAGCCT	0.468																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15604-15606)TCT>TAT		G protein-coupled receptor 98 precursor							81.0	80.0	80.0					5																	90106682		1973	4183	6156	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106682C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15605C>A	5.37:g.90106682C>A	ENSP00000384582:p.Ser5202Tyr					GPR98_uc003kjt.2_Missense_Mutation_p.S2908Y|GPR98_uc003kjw.2_Missense_Mutation_p.S863Y	p.S5202Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15701	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5202			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15605C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.184	1.024383	0.19433	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32272	1.5;1.46	5.03	4.16	0.48862	.	0.959019	0.08585	N	0.923901	T	0.32852	0.0843	L	0.51422	1.61	0.24340	N	0.994961	B;B;B	0.31790	0.34;0.07;0.226	B;B;B	0.37239	0.148;0.037;0.244	T	0.28522	-1.0041	9	.	.	.	.	9.5117	0.39080	0.0:0.9016:0.0:0.0984	.	863;5202;863	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Y	5202;5202;863	ENSP00000384582:S5202Y;ENSP00000392618:S863Y	.	S	+	2	0	GPR98	90142438	0.006000	0.16342	0.188000	0.23233	0.584000	0.36387	1.637000	0.37155	1.250000	0.43966	0.563000	0.77884	TCT		0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		57	111	1	0	3.32e-32	5.49e-32	57	111				
NUDT12	83594	broad.mit.edu	37	5	102890447	102890447	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:102890447C>T	ENST00000230792.2	-	5	1168	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	NUDT12_ENST00000507423.1_Missense_Mutation_p.E340K|NUDT12_ENST00000515407.1_5'UTR	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	358	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTACCAGGCTCAATAAATCCA	0.318																																						uc003koi.2		NA																	0					0						c.(1072-1074)GAG>AAG		nudix-type motif 12							54.0	53.0	53.0					5																	102890447		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102890447C>T	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1072G>A	5.37:g.102890447C>T	ENSP00000230792:p.Glu358Lys					NUDT12_uc011cvb.1_Missense_Mutation_p.E340K	p.E358K	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	5	1165	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	358			Nudix box.|Nudix hydrolase.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.1072G>A	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328646	0.95733	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.59906	0.23;0.23	5.62	5.62	0.85841	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.139494	0.64402	D	0.000004	D	0.83603	0.5290	H	0.94423	3.535	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.946;0.995	D	0.87835	0.2647	10	0.87932	D	0	-9.5453	19.6452	0.95773	0.0:1.0:0.0:0.0	.	340;358	E7EM93;Q9BQG2	.;NUD12_HUMAN	K	358;340	ENSP00000230792:E358K;ENSP00000424521:E340K	ENSP00000230792:E358K	E	-	1	0	NUDT12	102918346	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.420000	0.80191	2.638000	0.89438	0.655000	0.94253	GAG		0.318	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		23	71	0	0	0	0	23	71				
KCNN2	3781	broad.mit.edu	37	5	113831600	113831600	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:113831600C>T	ENST00000512097.3	+	9	2479	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	KCNN2_ENST00000503706.1_Silent_p.N139N|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Silent_p.N487N|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	487	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AGACCCAGAACATCATGTATG	0.408																																						uc003kqo.2		NA																	0				ovary(2)	2						c.(1459-1461)AAC>AAT		small conductance calcium-activated potassium							99.0	104.0	103.0					5																	113831600		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831600C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1461C>T	5.37:g.113831600C>T						KCNN2_uc003kqp.2_Silent_p.N139N|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.N487N	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	8	1918	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	487			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.1461C>T	CCDS4114.1																																																																																				0.408	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		40	125	0	0	0	0	40	125				
DMXL1	1657	broad.mit.edu	37	5	118576160	118576160	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:118576160G>C	ENST00000311085.8	+	41	8715	c.8635G>C	c.(8635-8637)Gtc>Ctc	p.V2879L	DMXL1_ENST00000539542.1_Missense_Mutation_p.V2900L|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2879										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAATAGTTTAGTCCATGGTAA	0.289																																						uc003ksd.2		NA																	0				ovary(2)	2						c.(8635-8637)GTC>CTC		Dmx-like 1							85.0	95.0	92.0					5																	118576160		2200	4300	6500	SO:0001583	missense	1657							g.chr5:118576160G>C	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8635G>C	5.37:g.118576160G>C	ENSP00000309690:p.Val2879Leu					DMXL1_uc010jcl.1_Missense_Mutation_p.V2900L|DMXL1_uc010jcm.1_RNA|DMXL1_uc003kse.1_Missense_Mutation_p.V53L	p.V2879L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	41	8816	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2879						Missense_Mutation	SNP	ENST00000311085.8	37	c.8635G>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718254	0.48622	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01279	5.06;5.06	5.34	2.56	0.30785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.196582	0.43747	D	0.000534	T	0.02571	0.0078	M	0.79926	2.475	0.43617	D	0.995998	B;B	0.26400	0.051;0.148	B;B	0.27608	0.022;0.081	T	0.41088	-0.9528	10	0.54805	T	0.06	-4.7608	5.7366	0.18069	0.2133:0.0:0.6503:0.1363	.	2900;2879	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2879;2900	ENSP00000309690:V2879L;ENSP00000439479:V2900L	ENSP00000309690:V2879L	V	+	1	0	DMXL1	118604059	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.950000	0.63603	0.238000	0.21222	-0.188000	0.12872	GTC		0.289	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		42	102	0	0	0	0	42	102				
PCDHA11	56138	broad.mit.edu	37	5	140250129	140250129	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140250129G>C	ENST00000398640.2	+	1	1441	c.1441G>C	c.(1441-1443)Gcg>Ccg	p.A481P	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGGGACGCGGACGCGCA	0.667																																						uc003lia.2		NA																	0				breast(1)	1						c.(1441-1443)GCG>CCG		protocadherin alpha 11 isoform 1 precursor							90.0	94.0	93.0					5																	140250129		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250129G>C	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1441G>C	5.37:g.140250129G>C	ENSP00000381636:p.Ala481Pro					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A481P	p.A481P	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2299	+			481			Extracellular (Potential).|Cadherin 5.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1441G>C	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	g	0.729	-0.780667	0.02929	.	.	ENSG00000249158	ENST00000398640	T	0.60672	0.17	5.55	3.74	0.42951	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27832	0.0685	N	0.04787	-0.16	0.29388	N	0.862818	B;B	0.21381	0.004;0.055	B;B	0.24701	0.01;0.055	T	0.36841	-0.9731	9	0.02654	T	1	.	4.0642	0.09852	0.0932:0.256:0.529:0.1218	.	481;481	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	P	481	ENSP00000381636:A481P	ENSP00000381636:A481P	A	+	1	0	PCDHA11	140230313	0.000000	0.05858	1.000000	0.80357	0.014000	0.08584	-0.236000	0.09003	1.364000	0.46038	-0.231000	0.12243	GCG		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		8	225	0	0	0	0	8	225				
PCDHAC2	56134	broad.mit.edu	37	5	140347910	140347910	+	Missense_Mutation	SNP	C	C	T	rs148804197		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140347910C>T	ENST00000289269.5	+	1	2091	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	520	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTCACCTCCTATGTCTCC	0.507																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(1558-1560)TCC>TTC		protocadherin alpha subfamily C, 2 isoform 1		C	,PHE/SER,,,,,,,,,,,,,,,,,PHE/SER	1,4405	2.1+/-5.4	0,1,2202	91.0	87.0	88.0		,1559,,,,,,,,,,,,,,,,,1559	5.9	1.0	5	dbSNP_134	88	0,8600		0,0,4300	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHAC2,PCDHAC1,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018898.3,NM_018899.5,NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031883.2	,155,,,,,,,,,,,,,,,,,155	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging,,,,,,,,,,,,,,,,,probably-damaging	,520/1008,,,,,,,,,,,,,,,,,520/885	140347910	1,13005	2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347910C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1559C>T	5.37:g.140347910C>T	ENSP00000289269:p.Ser520Phe					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.S520F	p.S520F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1799	+			520			Cadherin 5.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1559C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823823	0.50739	2.27E-4	0.0	ENSG00000243232	ENST00000289269	T	0.52754	0.65	5.87	5.87	0.94306	Cadherin (4);Cadherin-like (1);	0.000000	0.41001	D	0.000970	T	0.76263	0.3963	M	0.90252	3.1	0.50171	D	0.999859	P;D	0.76494	0.713;0.999	P;D	0.73380	0.484;0.98	T	0.80209	-0.1477	10	0.87932	D	0	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	520;520	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	F	520	ENSP00000289269:S520F	ENSP00000289269:S520F	S	+	2	0	PCDHAC2	140328094	0.156000	0.22821	1.000000	0.80357	0.994000	0.84299	2.904000	0.48719	2.785000	0.95823	0.655000	0.94253	TCC		0.507	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		6	102	0	0	0	0	6	102				
PCDHB11	56125	broad.mit.edu	37	5	140581330	140581330	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140581330C>G	ENST00000354757.3	+	1	1983	c.1983C>G	c.(1981-1983)ctC>ctG	p.L661L	PCDHB11_ENST00000536699.1_Silent_p.L296L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAGTGCTCCTGGTGGACG	0.706																																						uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1981-1983)CTC>CTG		protocadherin beta 11 precursor							32.0	35.0	34.0					5																	140581330		2158	4245	6403	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581330C>G	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1983C>G	5.37:g.140581330C>G						PCDHB11_uc011daj.1_Silent_p.L296L	p.L661L	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1983	+			661			Extracellular (Potential).|Cadherin 6.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.1983C>G	CCDS4253.1																																																																																				0.706	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		9	162	0	0	0	0	9	162				
PCDHGA2	56113	broad.mit.edu	37	5	140719457	140719457	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140719457C>T	ENST00000394576.2	+	1	919	c.919C>T	c.(919-921)Cta>Tta	p.L307L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	307	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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAAAAGATCTAGATTATGA	0.423																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(919-921)CTA>TTA		protocadherin gamma subfamily A, 2 isoform 1							150.0	160.0	156.0					5																	140719457		2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719457C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.919C>T	5.37:g.140719457C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.L307L	p.L307L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1104	+			307			Cadherin 3.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.919C>T	CCDS47289.1																																																																																				0.423	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		12	255	0	0	0	0	12	255				
PCDHGA10	56106	broad.mit.edu	37	5	140795002	140795002	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140795002C>T	ENST00000398610.2	+	1	2260	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGCTTTCCTGCAGACCTA	0.627																																						uc003lkl.1		NA																	0					0						c.(2260-2262)CTG>TTG		protocadherin gamma subfamily A, 10 isoform 1							78.0	86.0	83.0					5																	140795002		2203	4300	6503	SO:0001819	synonymous_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140795002C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2260C>T	5.37:g.140795002C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.L754L|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.L754L	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2260	+			754			Cytoplasmic (Potential).		Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2260C>T	CCDS47292.1																																																																																				0.627	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		83	122	0	0	0	0	83	122				
SH3RF2	153769	broad.mit.edu	37	5	145439601	145439601	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:145439601C>T	ENST00000511217.1	+	8	1780	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.L576L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	576					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTGCCCTCACGGGGGAGC	0.632																																						uc003lnt.2		NA																	0				ovary(1)|skin(1)	2						c.(1726-1728)CTC>CTT		SH3 domain containing ring finger 2							63.0	61.0	62.0					5																	145439601		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145439601C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1728C>T	5.37:g.145439601C>T						SH3RF2_uc011dbl.1_Silent_p.L576L|SH3RF2_uc011dbm.1_Silent_p.L61L|SH3RF2_uc003lnu.2_Silent_p.L67L|SH3RF2_uc011dbn.1_Silent_p.L67L|SH3RF2_uc011dbo.1_Silent_p.L33L	p.L576L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1966	+			576					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1728C>T	CCDS4280.1																																																																																				0.632	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		38	74	0	0	0	0	38	74				
GABRA1	2554	broad.mit.edu	37	5	161324208	161324208	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:161324208C>A	ENST00000428797.2	+	11	1506	c.1151C>A	c.(1150-1152)cCg>cAg	p.P384Q	GABRA1_ENST00000437025.2_Missense_Mutation_p.P384Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.P384Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.P384Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.P384Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.P384Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	384					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P384Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGGGGCGACCCGGGCTTAGCC	0.458																																						uc010jiw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1150-1152)CCG>CAG		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						106.0	116.0	113.0					5																	161324208		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324208C>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1151C>A	5.37:g.161324208C>A	ENSP00000393097:p.Pro384Gln					GABRA1_uc010jix.2_Missense_Mutation_p.P384Q|GABRA1_uc010jiy.2_Missense_Mutation_p.P384Q|GABRA1_uc003lyx.3_Missense_Mutation_p.P384Q|GABRA1_uc010jiz.2_Missense_Mutation_p.P384Q|GABRA1_uc010jja.2_Missense_Mutation_p.P384Q|GABRA1_uc010jjb.2_Missense_Mutation_p.P384Q	p.P384Q	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1619	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	384			Cytoplasmic (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1151C>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261517	0.59431	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.057504	0.64402	D	0.000001	T	0.79387	0.4437	L	0.35644	1.08	0.80722	D	1	B	0.26258	0.145	B	0.34652	0.187	T	0.72950	-0.4136	10	0.13108	T	0.6	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	384	P14867	GBRA1_HUMAN	Q	384	ENSP00000023897:P384Q;ENSP00000393097:P384Q;ENSP00000377517:P384Q;ENSP00000415441:P384Q;ENSP00000408041:P384Q;ENSP00000414232:P384Q	ENSP00000023897:P384Q	P	+	2	0	GABRA1	161256786	1.000000	0.71417	0.981000	0.43875	0.924000	0.55760	7.395000	0.79876	2.642000	0.89623	0.563000	0.77884	CCG		0.458	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		85	113	1	0	2.03e-29	3.32e-29	85	113				
ZFP2	80108	broad.mit.edu	37	5	178358636	178358636	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:178358636A>T	ENST00000361362.2	+	5	852	c.322A>T	c.(322-324)Agc>Tgc	p.S108C	ZFP2_ENST00000520301.1_Missense_Mutation_p.S108C|ZFP2_ENST00000523286.1_Missense_Mutation_p.S108C|ZFP2_ENST00000503510.2_Missense_Mutation_p.S108C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TAATCAGTGCAGCAAAACCTT	0.373																																						uc003mjn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(322-324)AGC>TGC		zinc finger protein 2 homolog							58.0	60.0	59.0					5																	178358636		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358636A>T	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.322A>T	5.37:g.178358636A>T	ENSP00000354453:p.Ser108Cys					ZFP2_uc010jky.2_Missense_Mutation_p.S108C|ZFP2_uc010jkx.1_Missense_Mutation_p.S108C	p.S108C	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	831	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	108			C2H2-type 1.		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.322A>T	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	a	10.99	1.507540	0.27036	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.01051	5.4;5.4;5.4;5.4	4.71	0.559	0.17272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.953445	0.08498	N	0.936910	T	0.01287	0.0042	N	0.21282	0.65	0.23876	N	0.996592	P	0.35208	0.49	B	0.38194	0.267	T	0.51679	-0.8675	10	0.87932	D	0	-0.4591	7.8103	0.29228	0.4301:0.0:0.5699:0.0	.	108	Q6ZN57	ZFP2_HUMAN	C	108	ENSP00000354453:S108C;ENSP00000430980:S108C;ENSP00000430531:S108C;ENSP00000438114:S108C	ENSP00000354453:S108C	S	+	1	0	ZFP2	178291242	0.017000	0.18338	0.744000	0.31058	0.620000	0.37586	-0.048000	0.11944	0.143000	0.18926	0.482000	0.46254	AGC		0.373	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		23	33	0	0	0	0	23	33				
ZNF354C	30832	broad.mit.edu	37	5	178506641	178506641	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:178506641A>G	ENST00000315475.6	+	5	1514	c.1208A>G	c.(1207-1209)cAg>cGg	p.Q403R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATCGAACATCAGCGAATTCAC	0.408																																						uc003mju.2		NA																	0				ovary(1)	1						c.(1207-1209)CAG>CGG		zinc finger protein 354C							131.0	126.0	128.0					5																	178506641		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506641A>G		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1208A>G	5.37:g.178506641A>G	ENSP00000324064:p.Gln403Arg						p.Q403R	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1323	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	403			C2H2-type 7.		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.1208A>G	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	A	6.027	0.373305	0.11409	.	.	ENSG00000177932	ENST00000315475	T	0.07327	3.2	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09335	0.0230	L	0.39245	1.2	0.26352	N	0.977182	B	0.12630	0.006	B	0.20955	0.032	T	0.13072	-1.0523	9	0.62326	D	0.03	-16.0881	11.2691	0.49127	1.0:0.0:0.0:0.0	.	403	Q86Y25	Z354C_HUMAN	R	403	ENSP00000324064:Q403R	ENSP00000324064:Q403R	Q	+	2	0	ZNF354C	178439247	0.055000	0.20627	0.981000	0.43875	0.105000	0.19272	0.453000	0.21811	1.808000	0.52836	0.482000	0.46254	CAG		0.408	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			3	158	0	0	0	0	3	158				
HIST1H3D	8351	broad.mit.edu	37	6	26197326	26197326	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:26197326C>T	ENST00000356476.2	-	1	152	c.153G>A	c.(151-153)gaG>gaA	p.E51E	HIST1H3D_ENST00000377831.5_Silent_p.E51E|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	51					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AGCGGCGGATCTCGCGCAGAG	0.632																																					GBM(108;3816 4467)	uc003ngv.2		NA																	0					0						c.(151-153)GAG>GAA		histone cluster 1, H3d							48.0	52.0	51.0					6																	26197326		2203	4300	6503	SO:0001819	synonymous_variant	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197326C>T	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.153G>A	6.37:g.26197326C>T						HIST1H2BF_uc003ngx.2_5'Flank	p.E51E	NM_003530	NP_003521	P68431	H31_HUMAN			2	550	-		all_hematologic(11;0.196)	51					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000356476.2	37	c.153G>A	CCDS4590.1																																																																																				0.632	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		49	107	0	0	0	0	49	107				
BTN3A2	11118	broad.mit.edu	37	6	26370714	26370714	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:26370714G>T	ENST00000356386.2	+	5	786	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	BTN3A2_ENST00000527422.1_Missense_Mutation_p.G200C|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G177C|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G200C|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G158C|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G200C|BTN3A2_ENST00000532994.1_3'UTR	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	200					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGATGGAGTGGGCCTATATGA	0.567																																						uc010jqh.1		NA																	0					0						c.(598-600)GGC>TGC		butyrophilin, subfamily 3, member A2 precursor							154.0	145.0	148.0					6																	26370714		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370714G>T	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.598G>T	6.37:g.26370714G>T	ENSP00000348751:p.Gly200Cys					BTN3A2_uc003nho.1_Missense_Mutation_p.G198C|BTN3A2_uc003nhp.2_Missense_Mutation_p.G200C|BTN3A2_uc011dkd.1_Missense_Mutation_p.G158C|BTN3A2_uc011dke.1_Missense_Mutation_p.G177C|BTN3A2_uc010jqi.1_Missense_Mutation_p.G198C	p.G200C	NM_007047	NP_008978	P78410	BT3A2_HUMAN			5	857	+			200			Extracellular (Potential).		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.598G>T	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.550459	0.45383	.	.	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.21734	1.99;2.79;2.79;2.79;2.79;2.79;2.79	2.31	2.31	0.28768	Immunoglobulin-like fold (1);	.	.	.	.	T	0.42177	0.1191	H	0.94183	3.505	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.14811	-1.0459	9	0.87932	D	0	.	8.2481	0.31702	0.0:0.0:1.0:0.0	.	177;200	F8W6E0;P78410	.;BT3A2_HUMAN	C	158;200;200;200;177;200;200;158	ENSP00000435952:G158C;ENSP00000432138:G200C;ENSP00000348751:G200C;ENSP00000380140:G177C;ENSP00000366937:G200C;ENSP00000380152:G200C;ENSP00000442687:G158C	ENSP00000348751:G200C	G	+	1	0	BTN3A2	26478693	0.100000	0.21855	0.003000	0.11579	0.310000	0.27922	1.251000	0.32862	1.599000	0.50093	0.405000	0.27470	GGC		0.567	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			67	196	1	0	2.18e-39	3.65e-39	67	196				
ZBED9	114821	broad.mit.edu	37	6	28541503	28541503	+	Silent	SNP	A	A	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:28541503A>C	ENST00000452236.2	-	4	2780	c.2163T>G	c.(2161-2163)ccT>ccG	p.P721P	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcccttcttcaggataacttc	0.348																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(2161-2163)CCT>CCG		SCAN domain containing 3							65.0	60.0	62.0					6																	28541503		2203	4298	6501	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541503A>C																												ENST00000452236.2:c.2163T>G	6.37:g.28541503A>C							p.P721P	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	2781	-			721						Silent	SNP	ENST00000452236.2	37	c.2163T>G	CCDS34355.1																																																																																				0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			4	34	0	0	0	0	4	34				
RNF39	80352	broad.mit.edu	37	6	30043359	30043359	+	Missense_Mutation	SNP	C	C	G	rs141667762		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:30043359C>G	ENST00000244360.6	-	1	305	c.208G>C	c.(208-210)Gat>Cat	p.D70H	RNF39_ENST00000376751.3_Missense_Mutation_p.D70H	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	70						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TCGGGCGCATCCATGGAAAGC	0.701																																					NSCLC(8;188 360 1520 20207 31481)	uc003npe.2		NA																	0					0						c.(208-210)GAT>CAT		ring finger protein 39 isoform 1		C	HIS/ASP,HIS/ASP	3,4397		0,3,2197	14.0	17.0	16.0		208,208	3.2	1.0	6	dbSNP_134	16	0,8594		0,0,4297	no	missense,missense	RNF39	NM_025236.3,NM_170769.2	81,81	0,3,6494	GG,GC,CC		0.0,0.0682,0.0231	benign,benign	70/421,70/355	30043359	3,12991	2200	4297	6497	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043359C>G	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.208G>C	6.37:g.30043359C>G	ENSP00000244360:p.Asp70His					RNF39_uc003npd.2_Missense_Mutation_p.D70H	p.D70H	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN			1	270	-			70					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.208G>C	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.66	3.444747	0.63178	6.82E-4	0.0	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70749	-0.02;-0.51	4.04	3.16	0.36331	.	.	.	.	.	T	0.45478	0.1344	L	0.39245	1.2	0.28216	N	0.926713	P;P	0.39624	0.553;0.681	B;B	0.41946	0.205;0.371	T	0.38887	-0.9640	9	0.66056	D	0.02	.	5.9102	0.19025	0.0:0.6952:0.1953:0.1094	.	70;70	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	H	70	ENSP00000365942:D70H;ENSP00000244360:D70H	ENSP00000244360:D70H	D	-	1	0	RNF39	30151338	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	1.422000	0.34826	0.825000	0.34637	0.436000	0.28706	GAT		0.701	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		19	33	0	0	0	0	19	33				
AGER	177	broad.mit.edu	37	6	32148952	32148952	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:32148952C>T	ENST00000375076.4	-	11	1284	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375065.5_3'UTR|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.E285K|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375070.3_Missense_Mutation_p.E426K|AGER_ENST00000375067.3_Silent_p.*343*	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	395					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCGCCTGCCTCAGGTTCCTCC	0.557																																						uc003oal.1		NA																	0				breast(1)	1						c.(1183-1185)GAG>AAG		advanced glycosylation end product-specific							181.0	192.0	188.0					6																	32148952		2203	4300	6503	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32148952C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1183G>A	6.37:g.32148952C>T	ENSP00000364217:p.Glu395Lys					AGER_uc003oak.1_Missense_Mutation_p.E124K|AGER_uc003oar.2_Missense_Mutation_p.E294K|AGER_uc011dpm.1_Missense_Mutation_p.E285K|AGER_uc011dpn.1_3'UTR|AGER_uc010jtv.1_3'UTR|AGER_uc011dpo.1_3'UTR|AGER_uc003oam.1_RNA|AGER_uc003oan.1_Silent_p.*343*|AGER_uc003oap.1_Missense_Mutation_p.E411K|AGER_uc003oat.1_3'UTR|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.E381K|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_3'UTR|AGER_uc003oau.1_3'UTR	p.E395K	NM_001136	NP_001127	Q15109	RAGE_HUMAN			11	1207	-			395			Cytoplasmic (Potential).		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.1183G>A	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805829	0.31961	.	.	ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059	T;T;T	0.39229	1.09;1.09;1.09	5.18	4.31	0.51392	.	0.000000	0.64402	D	0.000013	T	0.41003	0.1140	.	.	.	0.58432	D	0.999991	P;P;P;P	0.51240	0.943;0.884;0.884;0.884	P;B;B;B	0.52066	0.689;0.275;0.358;0.275	T	0.46665	-0.9175	9	0.87932	D	0	-18.7881	11.9203	0.52787	0.0:0.8243:0.1757:0.0	.	285;381;411;395	A8MS87;Q3L1R5;Q3L1R8;Q15109	.;.;.;RAGE_HUMAN	K	395;426;144;285;124	ENSP00000364217:E395K;ENSP00000364211:E426K;ENSP00000364210:E285K	ENSP00000364199:E124K	E	-	1	0	AGER	32256930	0.320000	0.24616	0.027000	0.17364	0.268000	0.26511	1.782000	0.38654	1.193000	0.43086	-0.359000	0.07587	GAG		0.557	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		7	438	0	0	0	0	7	438				
TAP2	6891	broad.mit.edu	37	6	32797792	32797792	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:32797792G>C	ENST00000452392.2	-	10	1883	c.1710C>G	c.(1708-1710)agC>agG	p.S570R	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374897.2_Missense_Mutation_p.S570R|TAP2_ENST00000374899.4_Missense_Mutation_p.S570R			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CATCTTCGCAGCTCTGCAGCC	0.537																																						uc003occ.2		NA																	0					0						c.(1708-1710)AGC>AGG		transporter 2, ATP-binding cassette, sub-family							132.0	137.0	135.0					6																	32797792		1511	2709	4220	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32797792G>C	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1710C>G	6.37:g.32797792G>C	ENSP00000391806:p.Ser570Arg					TAP2_uc011dqf.1_Missense_Mutation_p.S570R|TAP2_uc003ocb.1_Missense_Mutation_p.S570R|TAP2_uc003ocd.2_Missense_Mutation_p.S570R	p.S570R	NM_018833	NP_061313	Q03519	TAP2_HUMAN			9	1741	-			570			ABC transporter.|Cytoplasmic (Potential).		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.1710C>G		.	.	.	.	.	.	.	.	.	.	G	15.66	2.897852	0.52227	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.90676	-2.71;-2.71;-2.71	5.33	5.33	0.75918	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.495199	0.19404	N	0.115101	T	0.79621	0.4477	N	0.20574	0.59	0.23936	N	0.996413	B;B;B;B	0.28208	0.203;0.009;0.009;0.009	B;B;B;B	0.28709	0.093;0.037;0.037;0.037	T	0.80527	-0.1343	9	0.66056	D	0.02	-25.6685	16.5135	0.84293	0.0:0.0:1.0:0.0	.	570;571;570;570	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	R	570	ENSP00000364034:S570R;ENSP00000364032:S570R;ENSP00000391806:S570R	ENSP00000364032:S570R	S	-	3	2	XXbac-BPG246D15.9;TAP2	32905770	0.958000	0.32768	0.562000	0.28370	0.861000	0.49209	3.501000	0.53325	2.479000	0.83701	0.501000	0.49751	AGC		0.537	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		61	142	0	0	0	0	61	142				
ZBTB22	9278	broad.mit.edu	37	6	33283712	33283712	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:33283712G>C	ENST00000431845.2	-	2	1133	c.982C>G	c.(982-984)Ctg>Gtg	p.L328V	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.L328V|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTCAACACCAGATCTTCCTCC	0.557																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(982-984)CTG>GTG		zinc finger and BTB domain containing 22							112.0	88.0	96.0					6																	33283712		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283712G>C	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.982C>G	6.37:g.33283712G>C	ENSP00000407545:p.Leu328Val					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.L328V	p.L328V	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1134	-			328					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.982C>G	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520737	0.27211	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06449	3.3;3.3	3.88	-0.0741	0.13732	.	.	.	.	.	T	0.01222	0.0040	L	0.39898	1.24	0.27275	N	0.95825	P	0.47762	0.9	B	0.34779	0.189	T	0.49341	-0.8950	9	0.20046	T	0.44	.	6.36	0.21422	0.4814:0.0:0.5186:0.0	.	328	O15209	ZBT22_HUMAN	V	328	ENSP00000404403:L328V;ENSP00000407545:L328V	ENSP00000404403:L328V	L	-	1	2	ZBTB22	33391690	0.027000	0.19231	0.950000	0.38849	0.951000	0.60555	-0.021000	0.12504	-0.245000	0.09625	0.448000	0.29417	CTG		0.557	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			16	166	0	0	0	0	16	166				
DAXX	1616	broad.mit.edu	37	6	33287564	33287564	+	Silent	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:33287564G>C	ENST00000374542.5	-	6	1737	c.1533C>G	c.(1531-1533)ggC>ggG	p.G511G	DAXX_ENST00000414083.2_Silent_p.G436G|DAXX_ENST00000266000.6_Silent_p.G511G|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	511	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGATCTGTTTGCCAGGTTCCA	0.502			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2		NA		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		0				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(1531-1533)GGC>GGG		death-domain associated protein isoform a							78.0	71.0	74.0					6																	33287564		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287564G>C	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1533C>G	6.37:g.33287564G>C						ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.G436G|DAXX_uc011dre.1_Silent_p.G523G|DAXX_uc003oed.2_Silent_p.G511G	p.G511G	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			6	1737	-			511			Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1533C>G	CCDS4776.1																																																																																				0.502	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			9	118	0	0	0	0	9	118				
PPARD	5467	broad.mit.edu	37	6	35378951	35378951	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:35378951C>G	ENST00000311565.4	+	4	436	c.87C>G	c.(85-87)ctC>ctG	p.L29L	PPARD_ENST00000337400.2_Silent_p.L29L|PPARD_ENST00000418635.2_Silent_p.L29L|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000360694.3_Silent_p.L29L|PPARD_ENST00000448077.2_Intron|PPARD_ENST00000444397.1_Silent_p.L29L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	29					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CCCCAGAGCTCAATGGGGGAC	0.627																																						uc003okm.2		NA																	0				ovary(1)	1						c.(85-87)CTC>CTG		peroxisome proliferative activated receptor,	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						97.0	84.0	88.0					6																	35378951		2203	4300	6503	SO:0001819	synonymous_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35378951C>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.87C>G	6.37:g.35378951C>G						PPARD_uc003okl.2_Silent_p.L29L|PPARD_uc003okn.2_Silent_p.L29L|PPARD_uc011dtb.1_Intron|PPARD_uc011dtc.1_Silent_p.L29L|PPARD_uc010jvv.1_RNA	p.L29L	NM_006238	NP_006229	Q03181	PPARD_HUMAN			3	396	+			29					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	37	c.87C>G	CCDS4803.1																																																																																				0.627	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		16	68	0	0	0	0	16	68				
MAPK13	5603	broad.mit.edu	37	6	36106682	36106682	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:36106682G>A	ENST00000211287.4	+	11	1130	c.868G>A	c.(868-870)Gag>Aag	p.E290K	Z95152.1_ENST00000408816.1_RNA|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280K|MAPK13_ENST00000373766.5_Missense_Mutation_p.G239E	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GAAGATGCTGGAGCTAGACGT	0.672																																						uc003ols.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(868-870)GAG>AAG		mitogen-activated protein kinase 13							42.0	46.0	45.0					6																	36106682		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36106682G>A	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.868G>A	6.37:g.36106682G>A	ENSP00000211287:p.Glu290Lys					MAPK13_uc003olt.2_RNA	p.E290K	NM_002754	NP_002745	O15264	MK13_HUMAN			11	966	+			290			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.868G>A	CCDS4818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.643570|3.643570	0.67244|0.67244	.|.	.|.	ENSG00000156711|ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770|ENST00000373766	T;T|T	0.65178|0.64085	-0.14;-0.14|-0.08	4.98|4.98	4.98|4.98	0.66077|0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.105229|.	0.41605|.	D|.	0.000844|.	T|T	0.37919|0.37919	0.1021|0.1021	N|N	0.14661|0.14661	0.345|0.345	0.34232|0.34232	D|D	0.676619|0.676619	P|.	0.42556|.	0.783|.	B|.	0.40677|.	0.337|.	T|T	0.41360|0.41360	-0.9513|-0.9513	10|7	0.44086|0.30854	T|T	0.13|0.27	-45.63|-45.63	14.2864|14.2864	0.66249|0.66249	0.0:0.1952:0.8048:0.0|0.0:0.1952:0.8048:0.0	.|.	290|.	O15264|.	MK13_HUMAN|.	K|E	280;290;235|239	ENSP00000362866:E280K;ENSP00000211287:E290K|ENSP00000362871:G239E	ENSP00000211287:E290K|ENSP00000362871:G239E	E|G	+|+	1|2	0|0	MAPK13|MAPK13	36214660|36214660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	5.110000|5.110000	0.64622|0.64622	2.292000|2.292000	0.77174|0.77174	0.484000|0.484000	0.47621|0.47621	GAG|GGA		0.672	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			22	81	0	0	0	0	22	81				
DNAH8	1769	broad.mit.edu	37	6	38759381	38759381	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:38759381C>T	ENST00000359357.3	+	19	2435	c.2181C>T	c.(2179-2181)gcC>gcT	p.A727A	DNAH8_ENST00000441566.1_Silent_p.A727A|DNAH8_ENST00000449981.2_Silent_p.A944A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	727			A -> T (in dbSNP:rs1678674).		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAGATAGCCAAAACTGTGT	0.353																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(2179-2181)GCC>GCT		dynein, axonemal, heavy polypeptide 8							107.0	100.0	102.0					6																	38759381		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38759381C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2181C>T	6.37:g.38759381C>T							p.A727A	NM_001371	NP_001362					19	2781	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.2181C>T																																																																																					0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		20	37	0	0	0	0	20	37				
TREM1	54210	broad.mit.edu	37	6	41250265	41250265	+	Missense_Mutation	SNP	C	C	G	rs200169334		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:41250265C>G	ENST00000244709.4	-	2	337	c.274G>C	c.(274-276)Gat>Cat	p.D92H	TREM1_ENST00000591620.1_Missense_Mutation_p.D92H|TREM1_ENST00000334475.6_Missense_Mutation_p.D92H|TREM1_ENST00000589614.1_Missense_Mutation_p.D92H	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	92	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AAACCATGATCATGGTAGTCT	0.512																																						uc003oqf.1		NA																	0				breast(1)	1						c.(274-276)GAT>CAT		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)	C	HIS/ASP,HIS/ASP,HIS/ASP	0,4406		0,0,2203	131.0	102.0	112.0		274,274,274	-8.7	0.0	6		112	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	TREM1	NM_001242589.1,NM_001242590.1,NM_018643.3	81,81,81	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	92/226,92/151,92/235	41250265	1,13005	2203	4300	6503	SO:0001583	missense	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41250265C>G	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.274G>C	6.37:g.41250265C>G	ENSP00000244709:p.Asp92His					TREM1_uc003oqg.1_Missense_Mutation_p.D92H	p.D92H	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			2	338	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		92			Extracellular (Potential).|Ig-like V-type.		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	c.274G>C	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803472	0.31869	0.0	1.16E-4	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.23348	1.91;1.91	4.37	-8.74	0.00838	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.904970	0.01136	N	0.006087	T	0.08626	0.0214	L	0.48642	1.525	0.09310	N	1	P;P	0.49447	0.652;0.924	B;P	0.48063	0.131;0.565	T	0.43925	-0.9361	10	0.46703	T	0.11	13.8601	2.5643	0.04779	0.1692:0.2144:0.4015:0.2149	.	92;92	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	H	92	ENSP00000244709:D92H;ENSP00000334284:D92H	ENSP00000244709:D92H	D	-	1	0	TREM1	41358243	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.815000	0.00359	-3.234000	0.00208	-0.282000	0.10007	GAT		0.512	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		24	94	0	0	0	0	24	94				
SLC35B2	347734	broad.mit.edu	37	6	44224086	44224086	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:44224086C>T	ENST00000393812.3	-	3	496	c.353G>A	c.(352-354)gGg>gAg	p.G118E	SLC35B2_ENST00000538577.1_Intron|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	118					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCTGGAGCCCTGTGGCACA	0.622																																						uc003oxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(352-354)GGG>GAG		solute carrier family 35, member B2							78.0	90.0	86.0					6																	44224086		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224086C>T	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.353G>A	6.37:g.44224086C>T	ENSP00000377401:p.Gly118Glu					SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron	p.G118E	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	489	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		118			Helical; (Potential).		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.353G>A	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808704	0.70797	.	.	ENSG00000157593	ENST00000393812;ENST00000341553	T	0.37752	1.18	4.26	4.26	0.50523	.	0.053676	0.85682	D	0.000000	T	0.66877	0.2834	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79490	-0.1782	10	0.87932	D	0	-23.8984	16.8933	0.86093	0.0:1.0:0.0:0.0	.	118	Q8TB61	S35B2_HUMAN	E	118	ENSP00000377401:G118E	ENSP00000342455:G118E	G	-	2	0	SLC35B2	44332064	1.000000	0.71417	0.123000	0.21794	0.109000	0.19521	7.432000	0.80349	2.191000	0.70037	0.561000	0.74099	GGG		0.622	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			86	199	0	0	0	0	86	199				
GPR116	221395	broad.mit.edu	37	6	46830642	46830642	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:46830642G>C	ENST00000283296.7	-	15	2470	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	GPR116_ENST00000265417.7_Missense_Mutation_p.L728V|GPR116_ENST00000362015.4_Missense_Mutation_p.L728V|GPR116_ENST00000545669.1_Missense_Mutation_p.L157V|GPR116_ENST00000456426.2_Missense_Mutation_p.L586V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	728					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATCTGGAGCAGACTGTTTATT	0.502																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2182-2184)CTG>GTG		G-protein coupled receptor 116 precursor							211.0	205.0	207.0					6																	46830642		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830642G>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2182C>G	6.37:g.46830642G>C	ENSP00000283296:p.Leu728Val					GPR116_uc011dwj.1_Missense_Mutation_p.L283V|GPR116_uc011dwk.1_Missense_Mutation_p.L157V|GPR116_uc003oyp.3_Missense_Mutation_p.L586V|GPR116_uc003oyq.3_Missense_Mutation_p.L728V|GPR116_uc010jzi.1_Missense_Mutation_p.L400V	p.L728V	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2471	-			728			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2182C>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427423	0.25726	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.33216	1.45;1.82;1.49;1.45;1.42	5.09	3.25	0.37280	.	0.000000	0.45361	D	0.000361	T	0.39627	0.1085	M	0.74881	2.28	0.37022	D	0.896247	D;D;D;D;D	0.89917	0.998;0.974;1.0;0.985;1.0	D;P;D;D;D	0.83275	0.935;0.878;0.996;0.943;0.996	T	0.37753	-0.9692	10	0.54805	T	0.06	-17.1057	7.8164	0.29263	0.1962:0.0:0.8038:0.0	.	157;283;728;586;728	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	V	728;728;728;586;99;728;157	ENSP00000283296:L728V;ENSP00000354563:L728V;ENSP00000412866:L586V;ENSP00000265417:L728V;ENSP00000441581:L157V	ENSP00000265417:L728V	L	-	1	2	GPR116	46938601	0.991000	0.36638	0.966000	0.40874	0.093000	0.18481	2.119000	0.41958	1.256000	0.44068	0.655000	0.94253	CTG		0.502	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		73	281	0	0	0	0	73	281				
TNFRSF21	27242	broad.mit.edu	37	6	47200672	47200672	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:47200672G>C	ENST00000296861.2	-	6	2190	c.1797C>G	c.(1795-1797)atC>atG	p.I599M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	599					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGTCATCAAAGATAGGCTGCA	0.498																																						uc003oyv.2		NA																	0					0						c.(1795-1797)ATC>ATG		tumor necrosis factor receptor superfamily,							96.0	98.0	97.0					6																	47200672		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200672G>C	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1797C>G	6.37:g.47200672G>C	ENSP00000296861:p.Ile599Met						p.I599M	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2230	-			599			Cytoplasmic (Potential).		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1797C>G	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297362	0.60086	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.71934	-0.61	5.61	4.68	0.58851	.	0.091018	0.85682	D	0.000000	T	0.63498	0.2516	L	0.27053	0.805	0.58432	D	0.999993	D	0.89917	1.0	D	0.73380	0.98	T	0.70753	-0.4786	10	0.87932	D	0	.	7.9778	0.30166	0.129:0.0:0.871:0.0	.	599	O75509	TNR21_HUMAN	M	599;288	ENSP00000296861:I599M	ENSP00000296861:I599M	I	-	3	3	TNFRSF21	47308631	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.589000	0.67523	1.213000	0.43380	0.655000	0.94253	ATC		0.498	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		13	239	0	0	0	0	13	239				
GCM1	8521	broad.mit.edu	37	6	52993279	52993279	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:52993279G>A	ENST00000259803.7	-	6	1247	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	346					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTGGCTGCAGGTGGCTCCAAT	0.473																																						uc003pbp.2		NA																	0				central_nervous_system(1)	1						c.(1036-1038)CCT>TCT		glial cells missing homolog a							73.0	78.0	76.0					6																	52993279		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993279G>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1036C>T	6.37:g.52993279G>A	ENSP00000259803:p.Pro346Ser						p.P346S	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1245	-	Lung NSC(77;0.0755)		346					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1036C>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244777	0.22796	.	.	ENSG00000137270	ENST00000259803	T	0.77489	-1.1	5.73	1.94	0.25998	.	0.074981	0.56097	D	0.000027	T	0.44623	0.1302	L	0.36672	1.1	0.32291	N	0.566297	B	0.19445	0.036	B	0.15870	0.014	T	0.12863	-1.0531	10	0.38643	T	0.18	-22.6047	5.1852	0.15180	0.2285:0.0:0.6287:0.1428	.	346	Q9NP62	GCM1_HUMAN	S	346	ENSP00000259803:P346S	ENSP00000259803:P346S	P	-	1	0	GCM1	53101238	0.119000	0.22226	0.928000	0.36995	0.591000	0.36615	0.333000	0.19768	0.363000	0.24346	-0.964000	0.02622	CCT		0.473	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			39	162	0	0	0	0	39	162				
BAI3	577	broad.mit.edu	37	6	70071204	70071204	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:70071204C>A	ENST00000370598.1	+	29	4860	c.4039C>A	c.(4039-4041)Cct>Act	p.P1347T	BAI3_ENST00000546190.1_Missense_Mutation_p.P311T|BAI3_ENST00000238918.8_Missense_Mutation_p.P553T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1347					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAAGTAAACCCTGAATTCAA	0.403																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(4039-4041)CCT>ACT		brain-specific angiogenesis inhibitor 3							88.0	87.0	87.0					6																	70071204		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071204C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4039C>A	6.37:g.70071204C>A	ENSP00000359630:p.Pro1347Thr					BAI3_uc010kak.2_Missense_Mutation_p.P1347T|BAI3_uc011dxx.1_Missense_Mutation_p.P553T	p.P1347T	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4487	+		all_lung(197;0.212)	1347			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4039C>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018775	0.54576	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05855	3.38;3.38;3.38	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.55990	1.75	0.58432	D	0.999998	D;B	0.71674	0.998;0.011	D;B	0.76071	0.987;0.014	T	0.00438	-1.1739	10	0.72032	D	0.01	.	20.1141	0.97919	0.0:1.0:0.0:0.0	.	553;1347	B7Z356;O60242	.;BAI3_HUMAN	T	1347;553;311	ENSP00000359630:P1347T;ENSP00000238918:P553T;ENSP00000441821:P311T	ENSP00000238918:P553T	P	+	1	0	BAI3	70127925	1.000000	0.71417	0.977000	0.42913	0.950000	0.60333	5.697000	0.68295	2.766000	0.95052	0.650000	0.86243	CCT		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			77	122	1	0	7.97e-31	1.31e-30	77	122				
FAM135A	57579	broad.mit.edu	37	6	71185189	71185189	+	Silent	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:71185189T>C	ENST00000418814.2	+	6	848	c.234T>C	c.(232-234)aaT>aaC	p.N78N	FAM135A_ENST00000457062.2_Silent_p.N35N|FAM135A_ENST00000361499.3_Silent_p.N78N|FAM135A_ENST00000505769.1_Silent_p.N78N|FAM135A_ENST00000370479.3_Silent_p.N35N|FAM135A_ENST00000505868.1_Silent_p.N78N	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	78										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGTACAAAAATGAAGAGGTTG	0.264																																						uc003pfj.2		NA																	0				central_nervous_system(1)	1						c.(232-234)AAT>AAC		hypothetical protein LOC57579 isoform c							42.0	45.0	44.0					6																	71185189		2194	4266	6460	SO:0001819	synonymous_variant	57579							g.chr6:71185189T>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.234T>C	6.37:g.71185189T>C						FAM135A_uc003pfi.2_Silent_p.N78N|FAM135A_uc003pfh.2_Silent_p.N35N|FAM135A_uc003pfk.2_Silent_p.N78N|FAM135A_uc003pfl.2_5'UTR	p.N78N	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			4	367	+			78					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.234T>C	CCDS55028.1																																																																																				0.264	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		5	43	0	0	0	0	5	43				
ANKRD6	22881	broad.mit.edu	37	6	90331648	90331648	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:90331648G>T	ENST00000522441.1	+	10	1441	c.800G>T	c.(799-801)cGc>cTc	p.R267L	LYRM2_ENST00000520441.1_Missense_Mutation_p.R75S|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R267L|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R267L|ANKRD6_ENST00000369408.5_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R208L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	267					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGGTCTTGCGCTTCAGTCGT	0.547																																						uc003pni.3		NA																	0				ovary(2)|pancreas(1)	3						c.(799-801)CGC>CTC		ankyrin repeat domain 6							55.0	61.0	59.0					6																	90331648		2005	4170	6175	SO:0001583	missense	22881						protein binding	g.chr6:90331648G>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.800G>T	6.37:g.90331648G>T	ENSP00000430985:p.Arg267Leu					ANKRD6_uc003pne.3_Missense_Mutation_p.R267L|ANKRD6_uc003pnf.3_Intron|ANKRD6_uc011dzy.1_Missense_Mutation_p.R267L|ANKRD6_uc010kcd.2_Missense_Mutation_p.R208L|LYRM2_uc010kce.1_RNA|LYRM2_uc003png.2_RNA|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_RNA|ANKRD6_uc003pnj.3_5'UTR	p.R267L	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	10	1141	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	267			ANK 8.		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.800G>T	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.381411|4.381411	0.82792|0.82792	.|.	.|.	ENSG00000135299|ENSG00000083099	ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793|ENST00000520441	T;T;T;T|T	0.69685|0.26223	1.08;1.08;1.08;-0.42|1.75	5.9|5.9	4.13|4.13	0.48395|0.48395	.|.	0.099895|0.099895	0.44902|0.44902	D|D	0.000404|0.000404	T|T	0.14485|0.14485	0.0350|0.0350	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.826;1.0;0.997|.	B;D;P|.	0.91635|.	0.247;0.999;0.902|.	T|T	0.03193|0.03193	-1.1062|-1.1062	10|8	0.51188|0.41790	T|T	0.08|0.15	-13.0488|-13.0488	12.2753|12.2753	0.54730|0.54730	0.1353:0.0:0.8647:0.0|0.1353:0.0:0.8647:0.0	.|.	208;267;267|.	B3KUC3;Q9Y2G4;C9JJE8|.	.;ANKR6_HUMAN;.|.	L|S	267;267;267;208|75	ENSP00000345767:R267L;ENSP00000396771:R267L;ENSP00000430985:R267L;ENSP00000429782:R208L|ENSP00000427859:R75S	ENSP00000345767:R267L|ENSP00000427859:R75S	R|R	+|-	2|1	0|0	ANKRD6|LYRM2	90388369|90388369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.797000|3.797000	0.55514|0.55514	0.845000|0.845000	0.35118|0.35118	-0.142000|-0.142000	0.14014|0.14014	CGC|CGC		0.547	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			22	64	1	0	7.45e-12	1.1e-11	22	64				
TBC1D32	221322	broad.mit.edu	37	6	121482138	121482138	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:121482138C>A	ENST00000398212.2	-	23	2684	c.2635G>T	c.(2635-2637)Ggt>Tgt	p.G879C	TBC1D32_ENST00000275159.6_Missense_Mutation_p.G920C|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	879					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AATGGCCCACCAACAAGATTT	0.383																																						uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2635-2637)GGT>TGT		hypothetical protein LOC221322							124.0	115.0	118.0					6																	121482138		1841	4098	5939	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121482138C>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2635G>T	6.37:g.121482138C>A	ENSP00000381270:p.Gly879Cys					C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Missense_Mutation_p.G439C	p.G879C	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	23	2703	-			879					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2635G>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571759	0.65765	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.32515	1.45;1.45	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57242	-0.7845	10	0.72032	D	0.01	.	17.5424	0.87852	0.0:1.0:0.0:0.0	.	920;879	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	C	920;879	ENSP00000275159:G920C;ENSP00000381270:G879C	ENSP00000275159:G920C	G	-	1	0	C6orf170	121523837	1.000000	0.71417	0.979000	0.43373	0.690000	0.40134	5.989000	0.70587	2.140000	0.66376	0.585000	0.79938	GGT		0.383	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		30	82	1	0	5.91e-09	8.48e-09	30	82				
MAP3K5	4217	broad.mit.edu	37	6	136990454	136990454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:136990454G>A	ENST00000359015.4	-	8	1693	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	445					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GATTCAAACTGGTGTCCAGCT	0.393																																						uc003qhc.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(1333-1335)CAG>TAG		mitogen-activated protein kinase kinase kinase							140.0	148.0	145.0					6																	136990454		2203	4300	6503	SO:0001587	stop_gained	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990454G>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1333C>T	6.37:g.136990454G>A	ENSP00000351908:p.Gln445*					MAP3K5_uc011edk.1_Nonsense_Mutation_p.Q290*|MAP3K5_uc010kgw.1_Nonsense_Mutation_p.Q445*	p.Q445*	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	8	1694	-	Colorectal(23;0.24)		445					A6NIA0|B4DGB2|Q5THN3|Q99461	Nonsense_Mutation	SNP	ENST00000359015.4	37	c.1333C>T	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	42	9.412626	0.99163	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	.	.	.	5.5	5.5	0.81552	.	0.123061	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	13.1277	0.59364	0.0833:0.0:0.9167:0.0	.	.	.	.	X	445;525	.	ENSP00000351908:Q445X	Q	-	1	0	MAP3K5	137032147	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.605000	0.82844	2.580000	0.87095	0.650000	0.86243	CAG		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			52	143	0	0	0	0	52	143				
STXBP5	134957	broad.mit.edu	37	6	147684646	147684646	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:147684646G>A	ENST00000321680.6	+	24	2721	c.2721G>A	c.(2719-2721)caG>caA	p.Q907Q	STXBP5_ENST00000367480.3_Silent_p.Q854Q|STXBP5_ENST00000179882.6_Silent_p.Q562Q|STXBP5_ENST00000367481.3_Silent_p.Q871Q	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	907					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCTCTTCTCAGGAAATTAGTG	0.418																																						uc003qlz.2		NA																	0					0						c.(2719-2721)CAG>CAA		syntaxin binding protein 5 (tomosyn) isoform b							77.0	81.0	80.0					6																	147684646		2203	4300	6503	SO:0001819	synonymous_variant	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147684646G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2721G>A	6.37:g.147684646G>A						STXBP5_uc010khz.1_Silent_p.Q871Q|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.Q562Q	p.Q907Q	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	24	2882	+		Ovarian(120;0.0164)	907			WD 12.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2721G>A	CCDS47499.1																																																																																				0.418	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			16	54	0	0	0	0	16	54				
MICALL2	79778	broad.mit.edu	37	7	1481953	1481953	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:1481953G>T	ENST00000297508.7	-	7	1761	c.1586C>A	c.(1585-1587)tCc>tAc	p.S529Y	MICALL2_ENST00000405088.4_Missense_Mutation_p.S317Y	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	529	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCAACGCGGATGCCTGAGA	0.667																																						uc003skj.3		NA																	0				central_nervous_system(1)	1						c.(1585-1587)TCC>TAC		MICAL-like 2 isoform 1							98.0	97.0	97.0					7																	1481953		2203	4299	6502	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1481953G>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1586C>A	7.37:g.1481953G>T	ENSP00000297508:p.Ser529Tyr					MICALL2_uc003ski.3_Missense_Mutation_p.S16Y	p.S529Y	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	7	1733	-		Ovarian(82;0.0253)	529					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.1586C>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770309	0.49680	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.71934	2.29;-0.61	3.06	3.06	0.35304	.	0.250633	0.20909	U	0.083506	T	0.64681	0.2620	L	0.32530	0.975	0.09310	N	1	D;D	0.55385	0.971;0.971	P;P	0.49561	0.615;0.615	T	0.57911	-0.7729	10	0.56958	D	0.05	.	10.273	0.43493	0.0:0.0:1.0:0.0	.	529;317	Q8IY33;D3YTD2	MILK2_HUMAN;.	Y	317;529	ENSP00000385928:S317Y;ENSP00000297508:S529Y	ENSP00000297508:S529Y	S	-	2	0	MICALL2	1448479	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	1.431000	0.34925	1.683000	0.51011	0.561000	0.74099	TCC		0.667	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		20	236	1	0	7.45e-12	1.1e-11	20	236				
FOXK1	221937	broad.mit.edu	37	7	4722314	4722314	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:4722314C>G	ENST00000328914.4	+	1	375	c.375C>G	c.(373-375)atC>atG	p.I125M	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCGTCACCATCGGCCGCAACT	0.716																																						uc003snc.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(373-375)ATC>ATG		forkhead box K1							21.0	19.0	20.0					7																	4722314		2199	4298	6497	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4722314C>G	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.375C>G	7.37:g.4722314C>G	ENSP00000328720:p.Ile125Met					FOXK1_uc003sna.1_Intron|FOXK1_uc003snb.1_Missense_Mutation_p.I125M	p.I125M	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	1	385	+		Ovarian(82;0.0175)	125			FHA.			Missense_Mutation	SNP	ENST00000328914.4	37	c.375C>G	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	c	16.35	3.097788	0.56075	.	.	ENSG00000164916	ENST00000328914;ENST00000545598	D	0.90197	-2.63	2.93	2.93	0.34026	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.181068	0.36555	U	0.002524	D	0.93648	0.7971	M	0.82323	2.585	0.80722	D	1	D;D	0.64830	0.994;0.992	D;P	0.63192	0.912;0.905	D	0.93112	0.6517	10	0.87932	D	0	.	7.5894	0.28012	0.2547:0.7453:0.0:0.0	.	125;8	P85037;F5H8G8	FOXK1_HUMAN;.	M	125;8	ENSP00000328720:I125M	ENSP00000328720:I125M	I	+	3	3	FOXK1	4688840	0.998000	0.40836	1.000000	0.80357	0.926000	0.56050	0.320000	0.19540	1.375000	0.46248	0.274000	0.19336	ATC		0.716	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			5	38	0	0	0	0	5	38				
FOXK1	221937	broad.mit.edu	37	7	4800781	4800781	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:4800781G>A	ENST00000328914.4	+	8	1783	c.1783G>A	c.(1783-1785)Ggg>Agg	p.G595R	FOXK1_ENST00000446823.1_Missense_Mutation_p.G432R	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GATGGCCCCCGGGGTCCCCGG	0.672																																						uc003snc.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1783-1785)GGG>AGG		forkhead box K1							44.0	50.0	48.0					7																	4800781		2203	4298	6501	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4800781G>A	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1783G>A	7.37:g.4800781G>A	ENSP00000328720:p.Gly595Arg					FOXK1_uc003sna.1_Missense_Mutation_p.G432R	p.G595R	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	8	1793	+		Ovarian(82;0.0175)	595						Missense_Mutation	SNP	ENST00000328914.4	37	c.1783G>A	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220881	0.39201	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96427	-3.55;-4.01	5.46	5.46	0.80206	.	0.136757	0.50627	D	0.000103	D	0.96352	0.8810	L	0.43152	1.355	0.46654	D	0.999142	D;P	0.76494	0.999;0.652	P;B	0.59056	0.851;0.079	D	0.95436	0.8521	10	0.33940	T	0.23	.	16.4776	0.84136	0.0:0.0:1.0:0.0	.	595;432	P85037;P85037-2	FOXK1_HUMAN;.	R	432;351;595;478	ENSP00000394442:G432R;ENSP00000328720:G595R	ENSP00000328720:G595R	G	+	1	0	FOXK1	4767307	0.994000	0.37717	0.112000	0.21494	0.245000	0.25701	3.497000	0.53295	2.573000	0.86826	0.655000	0.94253	GGG		0.672	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			42	93	0	0	0	0	42	93				
TNRC18	84629	broad.mit.edu	37	7	5353145	5353145	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:5353145C>T	ENST00000430969.1	-	27	7725	c.7377G>A	c.(7375-7377)gaG>gaA	p.E2459E	TNRC18_ENST00000399537.4_Silent_p.E2459E	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2459							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGACAAGCAGCTCGGCCTCCT	0.687																																						uc003soi.3		NA																	0					0						c.(7375-7377)GAG>GAA		trinucleotide repeat containing 18							22.0	21.0	21.0					7																	5353145		1568	3582	5150	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5353145C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7377G>A	7.37:g.5353145C>T							p.E2459E	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7726	-		Ovarian(82;0.142)	2459					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.7377G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	2.768	-0.256373	0.05829	.	.	ENSG00000182095	ENST00000328270	.	.	.	5.01	4.12	0.48240	.	.	.	.	.	T	0.55449	0.1921	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51818	-0.8657	4	.	.	.	.	6.329	0.21259	0.1476:0.6943:0.0:0.158	.	.	.	.	T	273	.	.	A	-	1	0	TNRC18	5319671	1.000000	0.71417	0.998000	0.56505	0.419000	0.31324	1.612000	0.36889	1.095000	0.41419	0.561000	0.74099	GCT		0.687	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				21	38	0	0	0	0	21	38				
DNAH11	8701	broad.mit.edu	37	7	21640667	21640667	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:21640667T>C	ENST00000409508.3	+	17	3326	c.3295T>C	c.(3295-3297)Ttt>Ctt	p.F1099L	DNAH11_ENST00000328843.6_Missense_Mutation_p.F1099L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1099	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGAGCAAATTTGAGGACTT	0.333									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(3295-3297)TTT>CTT		dynein, axonemal, heavy chain 11							129.0	122.0	124.0					7																	21640667		1838	4093	5931	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640667T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3295T>C	7.37:g.21640667T>C	ENSP00000475939:p.Phe1099Leu						p.F1099L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			17	3326	+			1099			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3295T>C		.	.	.	.	.	.	.	.	.	.	T	0.023	-1.396107	0.01175	.	.	ENSG00000105877	ENST00000328843	T	0.20069	2.1	5.43	5.43	0.79202	.	0.131076	0.53938	D	0.000057	T	0.08582	0.0213	.	.	.	0.29705	N	0.839879	B	0.09022	0.002	B	0.09377	0.004	T	0.21827	-1.0234	9	0.02654	T	1	.	10.3883	0.44154	0.0:0.0772:0.0:0.9227	.	1099	Q96DT5	DYH11_HUMAN	L	1099	ENSP00000330671:F1099L	ENSP00000330671:F1099L	F	+	1	0	DNAH11	21607192	0.998000	0.40836	1.000000	0.80357	0.222000	0.24845	0.983000	0.29552	2.073000	0.62155	0.460000	0.39030	TTT		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		22	74	0	0	0	0	22	74				
MALSU1	115416	broad.mit.edu	37	7	23348989	23348989	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:23348989C>T	ENST00000466681.1	+	4	685	c.532C>T	c.(532-534)Cat>Tat	p.H178Y		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	178					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											CATGGTGATTCATTTGATGCT	0.398																																						uc003swd.1		NA																	0					0						c.(532-534)CAT>TAT		hypothetical protein LOC115416							135.0	131.0	132.0					7																	23348989		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23348989C>T	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.532C>T	7.37:g.23348989C>T	ENSP00000419370:p.His178Tyr					C7orf30_uc003swe.2_RNA	p.H178Y	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	564	+			178					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.532C>T	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333401	0.81801	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.87107	0.6095	H	0.96301	3.8	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.91040	0.4870	9	0.87932	D	0	-14.5402	14.458	0.67431	0.0:0.9292:0.0:0.0708	.	178	Q96EH3	CG030_HUMAN	Y	178	.	ENSP00000419370:H178Y	H	+	1	0	C7orf30	23315514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.425000	0.80255	1.380000	0.46344	0.591000	0.81541	CAT		0.398	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		39	127	0	0	0	0	39	127				
HERPUD2	64224	broad.mit.edu	37	7	35673933	35673933	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:35673933G>C	ENST00000396081.1	-	7	1852	c.1048C>G	c.(1048-1050)Ctt>Gtt	p.L350V	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.L350V	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	350					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ATTTCTTCAAGTTCCAAGTTG	0.408																																						uc003tet.2		NA																	0				ovary(3)	3						c.(1048-1050)CTT>GTT		HERPUD family member 2							223.0	204.0	210.0					7																	35673933		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35673933G>C	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.1048C>G	7.37:g.35673933G>C	ENSP00000379390:p.Leu350Val					HERPUD2_uc003tes.3_Missense_Mutation_p.L350V	p.L350V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			7	1853	-			350					A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.1048C>G	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575183	0.45902	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.21361	2.01;2.01	5.69	5.69	0.88448	.	0.286571	0.38897	N	0.001525	T	0.19005	0.0456	L	0.27053	0.805	0.34668	D	0.723386	D	0.54397	0.966	B	0.42462	0.388	T	0.07947	-1.0746	10	0.30078	T	0.28	-21.7347	19.4071	0.94651	0.0:0.0:1.0:0.0	.	350	Q9BSE4	HERP2_HUMAN	V	350	ENSP00000379390:L350V;ENSP00000310729:L350V	ENSP00000310729:L350V	L	-	1	0	HERPUD2	35640458	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.060000	0.49955	2.683000	0.91414	0.557000	0.71058	CTT		0.408	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		35	66	0	0	0	0	35	66				
DBNL	28988	broad.mit.edu	37	7	44091508	44091508	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:44091508C>T	ENST00000448521.1	+	3	317	c.219C>T	c.(217-219)aaC>aaT	p.N73N	DBNL_ENST00000494774.1_Silent_p.N73N|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000456905.1_Silent_p.N73N|DBNL_ENST00000452943.1_Silent_p.N73N|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Silent_p.N73N	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	73	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AGGACCCCAACTCTGGACTGC	0.527																																					NSCLC(68;573 1327 18604 34760 37992)	uc003tjp.3		NA																	0				skin(1)	1						c.(217-219)AAC>AAT		drebrin-like isoform b							168.0	142.0	151.0					7																	44091508		2203	4300	6503	SO:0001819	synonymous_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44091508C>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.219C>T	7.37:g.44091508C>T						DBNL_uc003tjn.2_Intron|DBNL_uc003tjo.3_Silent_p.N73N|DBNL_uc003tjr.3_Intron|DBNL_uc003tjq.3_Silent_p.N73N|DBNL_uc011kbm.1_Silent_p.N73N|DBNL_uc011kbn.1_Intron|DBNL_uc011kbo.1_Intron|DBNL_uc011kbp.1_Silent_p.N73N|DBNL_uc011kbq.1_Intron|DBNL_uc011kbr.1_Silent_p.N21N|DBNL_uc011kbs.1_5'Flank	p.N73N	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN			3	317	+			73			ADF-H.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Silent	SNP	ENST00000448521.1	37	c.219C>T	CCDS34623.1																																																																																				0.527	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		33	97	0	0	0	0	33	97				
PHKG1	5260	broad.mit.edu	37	7	56147375	56147375	+	IGR	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:56147375C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000275607.9_3'UTR|SUMF2_ENST00000434526.2_3'UTR|SUMF2_ENST00000437307.2_3'UTR|SUMF2_ENST00000395436.2_3'UTR|SUMF2_ENST00000342190.6_Silent_p.S296S|SUMF2_ENST00000413756.1_3'UTR|SUMF2_ENST00000395435.2_3'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGCAAACAGCGCAATTCCAA	0.602											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(184;580 2064 5329 24177 35303)	uc003trv.2		NA																	0				ovary(1)|skin(1)	2						c.(886-888)AGC>AGT		sulfatase modifying factor 2 isoform e							61.0	67.0	65.0					7																	56147375		692	1591	2283	SO:0001628	intergenic_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56147375C>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56147375C>T			OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_3'UTR|SUMF2_uc011kcx.1_3'UTR|SUMF2_uc003trt.2_3'UTR|SUMF2_uc011kcy.1_3'UTR|SUMF2_uc011kcz.1_3'UTR|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Silent_p.S109S|SUMF2_uc003trx.2_RNA	p.S296S	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	919	+	Breast(14;0.214)		Error:Variant_position_missing_in_Q8NBJ7_after_alignment					B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	c.888C>T	CCDS5525.1																																																																																				0.602	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		24	52	0	0	0	0	24	52				
RABGEF1	27342	broad.mit.edu	37	7	66236935	66236935	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:66236935C>G	ENST00000284957.5	+	2	126	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	RABGEF1_ENST00000450873.2_Missense_Mutation_p.L17V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.L31V|KCTD7_ENST00000380828.2_Missense_Mutation_p.L17V|KCTD7_ENST00000510829.2_Missense_Mutation_p.L17V|RABGEF1_ENST00000439720.2_Missense_Mutation_p.L30V|KCTD7_ENST00000451741.2_Missense_Mutation_p.L17V|RABGEF1_ENST00000484547.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	155					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TCAATCGGATCTCCTGTGCAA	0.483																																						uc011kee.1		NA																	0				ovary(1)	1						c.(91-93)CTC>GTC		RAB guanine nucleotide exchange factor (GEF) 1							103.0	93.0	96.0					7																	66236935		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66236935C>G	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.49C>G	7.37:g.66236935C>G	ENSP00000284957:p.Leu17Val					RABGEF1_uc003tvf.2_Translation_Start_Site|RABGEF1_uc003tvg.2_Translation_Start_Site|RABGEF1_uc010lag.2_Missense_Mutation_p.L17V|RABGEF1_uc003tvh.2_Missense_Mutation_p.L17V|RABGEF1_uc003tvi.2_Translation_Start_Site	p.L31V	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			2	255	+			155			Interaction with ubiquitinated proteins.|A20-type.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.91C>G	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	19.40	3.820267	0.71028	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000442563;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.28	5.28	0.74379	.	0.125811	0.56097	D	0.000036	T	0.58949	0.2158	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61466	-0.7057	10	0.87932	D	0	-4.0535	17.9326	0.89002	0.0:1.0:0.0:0.0	.	31	B4DZM7	.	V	22;17;17;17;17;17;17;17;30;31	ENSP00000370208:L17V;ENSP00000421124:L17V;ENSP00000398177:L17V;ENSP00000284957:L17V;ENSP00000415815:L17V;ENSP00000415503:L17V;ENSP00000403429:L30V;ENSP00000390480:L31V	ENSP00000370207:L22V	L	+	1	0	RABGEF1;KCTD7	65874370	1.000000	0.71417	0.998000	0.56505	0.385000	0.30292	4.636000	0.61339	2.475000	0.83589	0.650000	0.86243	CTC		0.483	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		50	231	0	0	0	0	50	231				
TYW1	55253	broad.mit.edu	37	7	66479523	66479523	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:66479523C>T	ENST00000359626.5	+	5	709	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	182	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGGGAAATTCTGCCTATGCT	0.418																																						uc003tvn.2		NA																	0				skin(1)	1						c.(544-546)TCT>TTT		radical S-adenosyl methionine and flavodoxin							167.0	155.0	159.0					7																	66479523		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479523C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.545C>T	7.37:g.66479523C>T	ENSP00000352645:p.Ser182Phe					TYW1_uc010lai.2_RNA	p.S182F	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			5	694	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	182			FMN (By similarity).|Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.545C>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827639	0.71143	.	.	ENSG00000198874	ENST00000359626	T	0.75938	-0.98	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	U	0.000000	D	0.90642	0.7065	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93514	0.6855	10	0.66056	D	0.02	.	15.7606	0.78076	0.0:1.0:0.0:0.0	.	182	Q9NV66	TYW1_HUMAN	F	182	ENSP00000352645:S182F	ENSP00000352645:S182F	S	+	2	0	TYW1	66116958	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.034000	0.76511	2.394000	0.81467	0.456000	0.33151	TCT		0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		63	293	0	0	0	0	63	293				
ABCB4	5244	broad.mit.edu	37	7	87056098	87056098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:87056098G>A	ENST00000265723.4	-	16	2143	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	ABCB4_ENST00000545634.1_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.Q678*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	678					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGGCTCTTCTGACACATTTGT	0.353																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(2032-2034)CAG>TAG		ATP-binding cassette, subfamily B, member 4							105.0	102.0	103.0					7																	87056098		2203	4300	6503	SO:0001587	stop_gained	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87056098G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2032C>T	7.37:g.87056098G>A	ENSP00000265723:p.Gln678*					ABCB4_uc003uiw.1_Nonsense_Mutation_p.Q678*|ABCB4_uc003uix.1_Nonsense_Mutation_p.Q678*	p.Q678*	NM_018849	NP_061337	P21439	MDR3_HUMAN			16	2108	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		678			Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Nonsense_Mutation	SNP	ENST00000265723.4	37	c.2032C>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197553	0.58126	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.	.	.	4.92	4.03	0.46877	.	1.722310	0.02737	N	0.115817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-0.4531	7.9599	0.30066	0.0:0.147:0.5105:0.3425	.	.	.	.	X	678	.	ENSP00000265723:Q678X	Q	-	1	0	ABCB4	86894034	0.402000	0.25311	0.049000	0.19019	0.031000	0.12232	1.785000	0.38684	1.266000	0.44231	0.655000	0.94253	CAG		0.353	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		27	39	0	0	0	0	27	39				
COL1A2	1278	broad.mit.edu	37	7	94057155	94057155	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:94057155A>C	ENST00000297268.6	+	49	3955	c.3484A>C	c.(3484-3486)Aca>Cca	p.T1162P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1162	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCAGCTCGCACATGCCGTGA	0.488										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3484-3486)ACA>CCA		alpha 2 type I collagen precursor	Collagenase(DB00048)						62.0	57.0	59.0					7																	94057155		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94057155A>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3484A>C	7.37:g.94057155A>C	ENSP00000297268:p.Thr1162Pro	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.T1162P	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		49	3955	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1162			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3484A>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123967	0.77436	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.76578	-1.03	5.65	5.65	0.86999	Fibrillar collagen, C-terminal (3);	0.054051	0.85682	D	0.000000	D	0.90438	0.7006	H	0.94925	3.6	0.80722	D	1	D	0.62365	0.991	P	0.61275	0.886	D	0.93055	0.6469	10	0.87932	D	0	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	1162	P08123	CO1A2_HUMAN	P	1162;1163	ENSP00000297268:T1162P	ENSP00000297268:T1162P	T	+	1	0	COL1A2	93895091	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	ACA		0.488	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		32	24	0	0	0	0	32	24				
TRIP6	7205	broad.mit.edu	37	7	100466214	100466214	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:100466214C>T	ENST00000200457.4	+	4	821	c.461C>T	c.(460-462)cCa>cTa	p.P154L		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	154					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCCACTCCAGCCTCTTAC	0.697																																						uc003uww.2		NA																	0				central_nervous_system(2)	2						c.(460-462)CCA>CTA		thyroid receptor-interacting protein 6							18.0	21.0	20.0					7																	100466214		2169	4225	6394	SO:0001583	missense	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100466214C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.461C>T	7.37:g.100466214C>T	ENSP00000200457:p.Pro154Leu					TRIP6_uc010lhk.1_RNA	p.P154L	NM_003302	NP_003293	Q15654	TRIP6_HUMAN			4	631	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		154					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	c.461C>T	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878871	0.91740	.	.	ENSG00000087077	ENST00000200457	T	0.62105	0.05	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	M	0.69358	2.11	0.80722	D	1	D	0.58620	0.983	P	0.53490	0.727	T	0.74303	-0.3709	10	0.72032	D	0.01	.	12.5409	0.56169	0.0:1.0:0.0:0.0	.	154	Q15654	TRIP6_HUMAN	L	154	ENSP00000200457:P154L	ENSP00000200457:P154L	P	+	2	0	TRIP6	100304150	0.999000	0.42202	0.996000	0.52242	0.852000	0.48524	5.880000	0.69698	1.999000	0.58509	0.462000	0.41574	CCA		0.697	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		7	65	0	0	0	0	7	65				
MUC17	140453	broad.mit.edu	37	7	100677694	100677694	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:100677694G>T	ENST00000306151.4	+	3	3061	c.2997G>T	c.(2995-2997)gaG>gaT	p.E999D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	999	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAATTCTGAGGCTAGCACCC	0.522																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2995-2997)GAG>GAT		mucin 17 precursor							366.0	321.0	336.0					7																	100677694		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677694G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2997G>T	7.37:g.100677694G>T	ENSP00000302716:p.Glu999Asp					MUC17_uc010lho.1_RNA	p.E999D	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3050	+	Lung NSC(181;0.136)|all_lung(186;0.182)		999			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2997G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.951	-0.706371	0.03230	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.373	-0.746	0.11095	.	.	.	.	.	T	0.01627	0.0052	N	0.24115	0.695	0.09310	N	1	P	0.38110	0.618	B	0.34418	0.182	T	0.45600	-0.9250	8	0.13470	T	0.59	.	.	.	.	.	999	Q685J3	MUC17_HUMAN	D	999	ENSP00000302716:E999D	ENSP00000302716:E999D	E	+	3	2	MUC17	100464414	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.508000	0.02266	-0.722000	0.04922	0.134000	0.15878	GAG		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		307	339	1	0	9.83e-173	1.68e-172	307	339				
CUX1	1523	broad.mit.edu	37	7	101918582	101918582	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:101918582C>G	ENST00000437600.4	+	17	1861	c.1509C>G	c.(1507-1509)atC>atG	p.I503M	CUX1_ENST00000547394.2_Missense_Mutation_p.I489M|CUX1_ENST00000292538.4_Missense_Mutation_p.I505M|CUX1_ENST00000393824.3_Missense_Mutation_p.I466M|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.I459M	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTTCCATCATCTCCAGCCAGA	0.632																																						uc003uyt.2		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1513-1515)ATC>ATG		cut-like homeobox 1 isoform b							99.0	93.0	95.0					7																	101918582		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101918582C>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1509C>G	7.37:g.101918582C>G	ENSP00000414091:p.Ile503Met					CUX1_uc011kkn.1_Missense_Mutation_p.I466M|CUX1_uc003uyw.2_Missense_Mutation_p.I459M|CUX1_uc003uyv.2_Missense_Mutation_p.I489M|CUX1_uc003uyu.2_Missense_Mutation_p.I503M|CUX1_uc003uyz.2_RNA	p.I505M	NM_001913	NP_001904	P39880	CUX1_HUMAN			17	1534	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1515C>G	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380563	0.61845	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	3.78	2.9	0.33743	CASP, C-terminal (1);	.	.	.	.	T	0.56529	0.1991	M	0.78344	2.41	0.23168	N	0.998187	D;D;D;D;D	0.71674	0.998;0.997;0.997;0.996;0.997	D;D;D;D;D	0.83275	0.961;0.996;0.969;0.931;0.916	T	0.41998	-0.9477	9	0.87932	D	0	.	6.6725	0.23076	0.1757:0.7312:0.0:0.093	.	466;459;489;503;505	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	M	505;489;459;503	ENSP00000292538:I505M;ENSP00000449371:I489M;ENSP00000409745:I459M;ENSP00000414091:I503M	ENSP00000292538:I505M	I	+	3	3	CUX1	101705302	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.384000	0.59607	0.721000	0.32231	0.561000	0.74099	ATC		0.632	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		12	92	0	0	0	0	12	92				
CPA4	51200	broad.mit.edu	37	7	129948163	129948163	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:129948163A>C	ENST00000222482.4	+	8	747	c.719A>C	c.(718-720)aAg>aCg	p.K240T	CPA4_ENST00000493259.1_Missense_Mutation_p.K136T|CPA4_ENST00000445470.2_Missense_Mutation_p.K207T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	240					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTATGGAGGAAGACGCGGTCC	0.537																																						uc003vpr.2		NA																	0				ovary(1)	1						c.(718-720)AAG>ACG		carboxypeptidase A4 preproprotein							94.0	87.0	89.0					7																	129948163		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129948163A>C	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.719A>C	7.37:g.129948163A>C	ENSP00000222482:p.Lys240Thr					CPA4_uc011kpd.1_Missense_Mutation_p.K207T|CPA4_uc011kpe.1_Missense_Mutation_p.K136T	p.K240T	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN			8	766	+	Melanoma(18;0.0435)		240					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.719A>C	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784592	0.90282	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.05513	3.43;3.43;3.43	5.8	5.8	0.92144	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61559	-0.7038	10	0.87932	D	0	.	14.1132	0.65137	1.0:0.0:0.0:0.0	.	207;240	B7Z576;Q9UI42	.;CBPA4_HUMAN	T	207;240;45;136	ENSP00000412947:K207T;ENSP00000222482:K240T;ENSP00000419660:K136T	ENSP00000222482:K240T	K	+	2	0	CPA4	129735399	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.731000	0.91529	2.213000	0.71641	0.477000	0.44152	AAG		0.537	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		31	40	0	0	0	0	31	40				
OR2A25	392138	broad.mit.edu	37	7	143772094	143772094	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:143772094C>A	ENST00000408898.2	+	1	820	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TATGTTGAGCCCCAGTATGAG	0.488																																						uc011ktx.1		NA																	0					0						c.(781-783)CCC>CAC		olfactory receptor, family 2, subfamily A,							141.0	154.0	149.0					7																	143772094		2202	4299	6501	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143772094C>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.782C>A	7.37:g.143772094C>A	ENSP00000386167:p.Pro261His						p.P261H	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	782	+	Melanoma(164;0.0783)		261			Extracellular (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.782C>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708127	0.30322	.	.	ENSG00000221933	ENST00000408898	T	0.00272	8.36	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	H	0.95260	3.645	0.32717	N	0.510802	D	0.89917	1.0	D	0.97110	1.0	T	0.05903	-1.0857	9	0.87932	D	0	-9.3286	15.1614	0.72788	0.0:1.0:0.0:0.0	.	261	A4D2G3	O2A25_HUMAN	H	261	ENSP00000386167:P261H	ENSP00000386167:P261H	P	+	2	0	OR2A25	143403027	0.503000	0.26115	0.710000	0.30468	0.063000	0.16089	2.388000	0.44398	2.435000	0.82474	0.563000	0.77884	CCC		0.488	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			135	168	1	0	2.45e-52	4.16e-52	135	168				
C7orf33	202865	broad.mit.edu	37	7	148311217	148311217	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:148311217G>T	ENST00000307003.2	+	2	649	c.288G>T	c.(286-288)tgG>tgT	p.W96C		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	96										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGCCCCGTGGCATTTTCTTT	0.517																																						uc003wew.2		NA																	0				central_nervous_system(1)	1						c.(286-288)TGG>TGT		hypothetical protein LOC202865							88.0	80.0	83.0					7																	148311217		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148311217G>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.288G>T	7.37:g.148311217G>T	ENSP00000304071:p.Trp96Cys						p.W96C	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	649	+	Melanoma(164;0.15)		96						Missense_Mutation	SNP	ENST00000307003.2	37	c.288G>T	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	G	2.749	-0.260579	0.05791	.	.	ENSG00000170279	ENST00000307003	.	.	.	1.08	0.143	0.14820	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	0.999999	P	0.51933	0.949	B	0.40375	0.327	T	0.15549	-1.0433	8	0.87932	D	0	.	3.3032	0.06990	0.3008:0.0:0.6992:0.0	.	96	Q8WU49	CG033_HUMAN	C	96	.	ENSP00000304071:W96C	W	+	3	0	C7orf33	147942150	0.024000	0.19004	0.048000	0.18961	0.010000	0.07245	0.007000	0.13174	0.021000	0.15133	0.462000	0.41574	TGG		0.517	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		27	57	1	0	8.25e-16	1.26e-15	27	57				
GIMAP6	474344	broad.mit.edu	37	7	150325508	150325508	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:150325508T>C	ENST00000328902.5	-	3	394	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	60	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.I60V(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCCGAGGATGCTGTTTCCT	0.547																																						uc003whn.2		NA																	1	Substitution - Missense(1)		skin(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(178-180)ATC>GTC		GTPase, IMAP family member 6							266.0	268.0	267.0					7																	150325508		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325508T>C	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.178A>G	7.37:g.150325508T>C	ENSP00000330374:p.Ile60Val					GIMAP6_uc003whm.2_Intron	p.I60V	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	602	-			60					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.178A>G	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699657	0.68501	.	.	ENSG00000133561	ENST00000328902;ENST00000392862;ENST00000477013	T	0.37752	1.18	4.29	4.29	0.51040	AIG1 (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.73430	2.235	0.80722	D	1	D	0.61697	0.99	D	0.68943	0.961	T	0.58967	-0.7542	10	0.62326	D	0.03	.	9.7378	0.40399	0.0:0.0:0.0:1.0	.	60	Q6P9H5	GIMA6_HUMAN	V	60;121;60	ENSP00000330374:I60V	ENSP00000330374:I60V	I	-	1	0	GIMAP6	149956441	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	1.241000	0.32743	1.820000	0.53075	0.459000	0.35465	ATC		0.547	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		20	477	0	0	0	0	20	477				
AOC1	26	broad.mit.edu	37	7	150557669	150557669	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:150557669C>A	ENST00000493429.1	+	6	2521	c.1937C>A	c.(1936-1938)cCg>cAg	p.P646Q	AOC1_ENST00000416793.2_Missense_Mutation_p.P665Q|AOC1_ENST00000360937.4_Missense_Mutation_p.P646Q|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.P646Q			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	646					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CCCTGGCACCCGCCCGTGGTC	0.617																																						uc003why.1		NA																	0				ovary(2)|breast(2)|skin(2)	6						c.(1936-1938)CCG>CAG		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						97.0	111.0	106.0					7																	150557669		2085	4213	6298	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150557669C>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1937C>A	7.37:g.150557669C>A	ENSP00000418614:p.Pro646Gln					ABP1_uc003whz.1_Missense_Mutation_p.P646Q|ABP1_uc003wia.1_Missense_Mutation_p.P665Q	p.P646Q	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	6155	+	all_neural(206;0.219)		646					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1937C>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989992	0.74589	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	5.05	5.05	0.67936	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.31998	-0.9923	10	0.87932	D	0	-29.2371	15.9062	0.79433	0.0:1.0:0.0:0.0	.	665;646	C9J690;P19801	.;ABP1_HUMAN	Q	646;646;646;172;665;522	ENSP00000418614:P646Q;ENSP00000418328:P646Q;ENSP00000354193:P646Q;ENSP00000411613:P665Q	ENSP00000354193:P646Q	P	+	2	0	ABP1	150188602	1.000000	0.71417	0.992000	0.48379	0.516000	0.34256	4.574000	0.60900	2.353000	0.79882	0.491000	0.48974	CCG		0.617	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		81	73	1	0	1.35e-34	2.25e-34	81	73				
UNC5D	137970	broad.mit.edu	37	8	35608237	35608237	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:35608237G>T	ENST00000404895.2	+	13	2401	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	UNC5D_ENST00000287272.2_Silent_p.L622L|UNC5D_ENST00000449677.1_Silent_p.L267L|UNC5D_ENST00000420357.1_Silent_p.L624L|UNC5D_ENST00000416672.1_Silent_p.L696L|UNC5D_ENST00000453357.2_Silent_p.L686L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	691					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGAAGCAACTGAAGGTGGCGG	0.507																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2071-2073)CTG>CTT		unc-5 homolog D precursor							245.0	205.0	219.0					8																	35608237		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608237G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2073G>T	8.37:g.35608237G>T						UNC5D_uc003xjs.1_Silent_p.L686L|UNC5D_uc003xju.1_Silent_p.L267L	p.L691L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2401	+			691			Cytoplasmic (Potential).		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.2073G>T	CCDS6093.2																																																																																				0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			31	306	1	0	5.46e-16	8.33e-16	31	306				
UNC5D	137970	broad.mit.edu	37	8	35624547	35624547	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:35624547A>G	ENST00000404895.2	+	15	2769	c.2441A>G	c.(2440-2442)cAt>cGt	p.H814R	UNC5D_ENST00000287272.2_Missense_Mutation_p.H745R|UNC5D_ENST00000449677.1_Missense_Mutation_p.H390R|UNC5D_ENST00000420357.1_Missense_Mutation_p.H747R|UNC5D_ENST00000416672.1_Missense_Mutation_p.H819R|UNC5D_ENST00000453357.2_Missense_Mutation_p.H809R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	814					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTCAAAGGCCATGAACAGATC	0.507																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2440-2442)CAT>CGT		unc-5 homolog D precursor							142.0	118.0	126.0					8																	35624547		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35624547A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2441A>G	8.37:g.35624547A>G	ENSP00000385143:p.His814Arg					UNC5D_uc003xjs.1_Missense_Mutation_p.H809R|UNC5D_uc003xju.1_Missense_Mutation_p.H390R	p.H814R	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	15	2769	+			814			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2441A>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013918	0.75161	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.54866	0.58;1.02;1.02;0.58;0.55;2.48	5.93	5.93	0.95920	.	0.092809	0.85682	D	0.000000	T	0.52289	0.1725	L	0.56769	1.78	0.58432	D	0.999999	P;P;P	0.44816	0.844;0.822;0.728	B;B;B	0.39904	0.313;0.194;0.095	T	0.59144	-0.7509	10	0.72032	D	0.01	-18.2303	16.3943	0.83563	1.0:0.0:0.0:0.0	.	390;809;814	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	R	814;747;745;819;809;390	ENSP00000385143:H814R;ENSP00000392739:H747R;ENSP00000287272:H745R;ENSP00000412652:H819R;ENSP00000394303:H809R;ENSP00000397211:H390R	ENSP00000287272:H745R	H	+	2	0	UNC5D	35744089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.518000	0.81795	2.281000	0.76405	0.533000	0.62120	CAT		0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			93	121	0	0	0	0	93	121				
KAT6A	7994	broad.mit.edu	37	8	41792081	41792081	+	Silent	SNP	T	T	C	rs7820342		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:41792081T>C	ENST00000396930.3	-	18	4200	c.3657A>G	c.(3655-3657)ctA>ctG	p.L1219L	KAT6A_ENST00000265713.2_Silent_p.L1219L|KAT6A_ENST00000406337.1_Silent_p.L1219L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1219					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										tctcctcGGGTAGGGGCATGT	0.537																																						uc010lxb.2		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(3655-3657)CTA>CTG		MYST histone acetyltransferase (monocytic							118.0	99.0	106.0					8																	41792081		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41792081T>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3657A>G	8.37:g.41792081T>C						MYST3_uc010lxc.2_Silent_p.L1219L|MYST3_uc003xon.3_Silent_p.L1219L	p.L1219L	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	4201	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1219					Q76L81	Silent	SNP	ENST00000396930.3	37	c.3657A>G	CCDS6124.1																																																																																				0.537	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		58	67	0	0	0	0	58	67				
YTHDF3	253943	broad.mit.edu	37	8	64099575	64099575	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:64099575C>T	ENST00000539294.1	+	4	1319	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.P146S	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	336							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGACCTCAGCCACAGGCCCA	0.567																																						uc003xuy.2		NA																	0					0						c.(1006-1008)CCA>TCA		YTH domain family, member 3							43.0	55.0	51.0					8																	64099575		2146	4261	6407	SO:0001583	missense	253943							g.chr8:64099575C>T	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1003C>T	8.37:g.64099575C>T	ENSP00000473496:p.Pro335Ser					YTHDF3_uc010lys.2_Missense_Mutation_p.P280S|YTHDF3_uc003xuz.2_Missense_Mutation_p.P280S|YTHDF3_uc003xva.2_Missense_Mutation_p.P280S|YTHDF3_uc011len.1_Missense_Mutation_p.P280S	p.P336S	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	1322	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	336					B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.1006C>T																																																																																					0.567	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		14	31	0	0	0	0	14	31				
PREX2	80243	broad.mit.edu	37	8	69005862	69005862	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:69005862A>T	ENST00000288368.4	+	21	2550	c.2273A>T	c.(2272-2274)tAt>tTt	p.Y758F	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	758					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAATGGGTTTATAATAGCATT	0.438																																						uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2272-2274)TAT>TTT		DEP domain containing 2 isoform a							108.0	108.0	108.0					8																	69005862		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69005862A>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2273A>T	8.37:g.69005862A>T	ENSP00000288368:p.Tyr758Phe					PREX2_uc003xxu.1_Missense_Mutation_p.Y758F|PREX2_uc011lez.1_Missense_Mutation_p.Y693F	p.Y758F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			21	2300	+			758					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2273A>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	30	5.055336	0.93793	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.44881	0.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.68550	-0.5379	10	0.87932	D	0	.	15.898	0.79350	1.0:0.0:0.0:0.0	.	758;758;758	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	F	758	ENSP00000288368:Y758F	ENSP00000288368:Y758F	Y	+	2	0	PREX2	69168416	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	8.515000	0.90548	2.150000	0.67090	0.528000	0.53228	TAT		0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		49	101	0	0	0	0	49	101				
KIAA1429	25962	broad.mit.edu	37	8	95547138	95547138	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:95547138G>A	ENST00000297591.5	-	5	488	c.413C>T	c.(412-414)tCt>tTt	p.S138F	KIAA1429_ENST00000421249.2_Missense_Mutation_p.S138F|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S138F|RP11-267M23.3_ENST00000521010.1_RNA	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	138					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tggtggtggAGAGTCTCTGTC	0.458																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(412-414)TCT>TTT		hypothetical protein LOC25962 isoform 1							115.0	101.0	106.0					8																	95547138		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95547138G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.413C>T	8.37:g.95547138G>A	ENSP00000297591:p.Ser138Phe					KIAA1429_uc003ygp.2_Missense_Mutation_p.S138F	p.S138F	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		5	426	-	Breast(36;3.29e-05)		138					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.413C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013696	0.93404	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.52754	0.66;0.66;0.65	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.65985	-0.6035	10	0.72032	D	0.01	-14.2648	19.4293	0.94758	0.0:0.0:1.0:0.0	.	138;138	Q69YN4-4;Q69YN4	.;VIR_HUMAN	F	138	ENSP00000297591:S138F;ENSP00000395600:S138F;ENSP00000398390:S138F	ENSP00000297591:S138F	S	-	2	0	KIAA1429	95616314	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.654000	0.90174	0.591000	0.81541	TCT		0.458	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		41	109	0	0	0	0	41	109				
UBR5	51366	broad.mit.edu	37	8	103335611	103335611	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:103335611C>A	ENST00000520539.1	-	14	2318	c.1712G>T	c.(1711-1713)aGc>aTc	p.S571I	UBR5_ENST00000521922.1_Missense_Mutation_p.S565I|UBR5_ENST00000220959.4_Missense_Mutation_p.S571I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	571					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)			AAATCTACAGCTGTCATTCAT	0.363																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1711-1713)AGC>ATC		ubiquitin protein ligase E3 component n-recognin							106.0	96.0	100.0					8																	103335611		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.chr8:103335611C>A	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.1712G>T	8.37:g.103335611C>A	ENSP00000429084:p.Ser571Ile					UBR5_uc003yks.1_Missense_Mutation_p.S571I	p.S571I	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		14	1745	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		571					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1712G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220743	0.79464	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44083	0.93;0.93;0.93	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	N	0.05078	-0.115	0.80722	D	1	P;P	0.43477	0.808;0.808	B;B	0.36567	0.228;0.228	T	0.08472	-1.0720	10	0.16896	T	0.51	.	19.7602	0.96311	0.0:1.0:0.0:0.0	.	565;571	E7EMW7;O95071	.;UBR5_HUMAN	I	571;571;565	ENSP00000429084:S571I;ENSP00000220959:S571I;ENSP00000427819:S565I	ENSP00000220959:S571I	S	-	2	0	UBR5	103404787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.661000	0.90470	0.591000	0.81541	AGC		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		15	44	1	0	0.00244969	0.00324258	15	44				
KCNV1	27012	broad.mit.edu	37	8	110980568	110980568	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:110980568G>A	ENST00000524391.1	-	4	2284	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	KCNV1_ENST00000297404.1_Missense_Mutation_p.L418F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	418					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCCAAGACAAGAATTCCCGAT	0.478																																						uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(1252-1254)CTT>TTT		potassium channel, subfamily V, member 1							113.0	114.0	114.0					8																	110980568		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980568G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1252C>T	8.37:g.110980568G>A	ENSP00000435954:p.Leu418Phe					KCNV1_uc010mcw.2_Missense_Mutation_p.L418F	p.L418F	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1594	-	all_neural(195;0.219)		418			Helical; Name=Segment S6; (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1252C>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047716	0.75846	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98701	-5.08;-5.08	5.79	4.92	0.64577	Ion transport (1);	0.068241	0.64402	D	0.000013	D	0.99187	0.9718	M	0.91196	3.185	0.54753	D	0.999986	D	0.65815	0.995	D	0.65573	0.936	D	0.99078	1.0836	10	0.87932	D	0	.	13.9125	0.63876	0.0724:0.0:0.9276:0.0	.	418	Q6PIU1	KCNV1_HUMAN	F	418;418;294	ENSP00000435954:L418F;ENSP00000297404:L418F	ENSP00000297404:L418F	L	-	1	0	KCNV1	111049744	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	3.376000	0.52417	1.447000	0.47661	0.655000	0.94253	CTT		0.478	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		51	113	0	0	0	0	51	113				
CSMD3	114788	broad.mit.edu	37	8	113668540	113668540	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:113668540C>G	ENST00000297405.5	-	18	3091	c.2847G>C	c.(2845-2847)ctG>ctC	p.L949L	CSMD3_ENST00000455883.2_Silent_p.L845L|CSMD3_ENST00000343508.3_Silent_p.L909L|CSMD3_ENST00000352409.3_Silent_p.L949L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	949	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGAACTTCCAGAACATCAT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2845-2847)CTG>CTC		CUB and Sushi multiple domains 3 isoform 1							66.0	71.0	69.0					8																	113668540		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113668540C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2847G>C	8.37:g.113668540C>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L221L|CSMD3_uc003ynt.2_Silent_p.L909L|CSMD3_uc011lhx.1_Silent_p.L845L	p.L949L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			18	3006	-			949			Extracellular (Potential).|CUB 5.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2847G>C	CCDS6315.1																																																																																				0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	69	0	0	0	0	28	69				
WISP1	8840	broad.mit.edu	37	8	134232922	134232922	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:134232922G>T	ENST00000250160.6	+	3	554	c.448G>T	c.(448-450)Gcg>Tcg	p.A150S	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	150	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CATCGACGGCGCGGTGGGCTG	0.667																																						uc003yub.2		NA																	0				central_nervous_system(1)|kidney(1)	2						c.(448-450)GCG>TCG		WNT1 inducible signaling pathway protein 1							91.0	76.0	81.0					8																	134232922		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232922G>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.448G>T	8.37:g.134232922G>T	ENSP00000250160:p.Ala150Ser					WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	p.A150S	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	524	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		150			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.448G>T	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852916	0.51270	.	.	ENSG00000104415	ENST00000250160	T	0.72051	-0.62	4.63	2.79	0.32731	von Willebrand factor, type C (4);	0.191518	0.47852	D	0.000204	T	0.75598	0.3871	M	0.75085	2.285	0.80722	D	1	P	0.49961	0.93	P	0.53006	0.715	T	0.73694	-0.3902	10	0.51188	T	0.08	-14.8382	9.0879	0.36592	0.1802:0.0:0.8198:0.0	.	150	O95388	WISP1_HUMAN	S	150	ENSP00000250160:A150S	ENSP00000250160:A150S	A	+	1	0	WISP1	134302104	1.000000	0.71417	0.118000	0.21660	0.048000	0.14542	5.392000	0.66272	0.372000	0.24591	0.460000	0.39030	GCG		0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		50	138	1	0	1.4e-22	2.24e-22	50	138				
GLI4	2738	broad.mit.edu	37	8	144358699	144358699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:144358699C>T	ENST00000523522.1	+	3	895	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	GLI4_ENST00000340042.1_Nonsense_Mutation_p.Q286*|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	286					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGTGCGCCACCAGCGGCTGCA	0.657																																						uc003yxx.2		NA																	0					0						c.(856-858)CAG>TAG		GLI-Kruppel family member GLI4							27.0	28.0	28.0					8																	144358699		2203	4300	6503	SO:0001587	stop_gained	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358699C>T		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.856C>T	8.37:g.144358699C>T	ENSP00000430987:p.Gln286*					ZFP41_uc003yxv.2_RNA	p.Q286*	NM_138465	NP_612474	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	941	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		286			C2H2-type 4.		Q96CK9	Nonsense_Mutation	SNP	ENST00000523522.1	37	c.856C>T	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399239	0.62177	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.6303	0.62191	0.0:1.0:0.0:0.0	.	.	.	.	X	286	.	ENSP00000345024:Q286X	Q	+	1	0	GLI4	144430074	0.116000	0.22171	1.000000	0.80357	0.309000	0.27889	0.655000	0.24933	2.037000	0.60232	0.558000	0.71614	CAG		0.657	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			21	35	0	0	0	0	21	35				
RHPN1	114822	broad.mit.edu	37	8	144463846	144463846	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:144463846G>A	ENST00000289013.6	+	13	1694	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	556					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GGGGAGACTCGCCTGTCCTCA	0.692																																						uc003yyb.2		NA																	0				large_intestine(1)	1						c.(1591-1593)TCG>TCA		rhophilin 1							24.0	33.0	30.0					8																	144463846		2014	4172	6186	SO:0001819	synonymous_variant	114822				signal transduction	intracellular		g.chr8:144463846G>A	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1593G>A	8.37:g.144463846G>A							p.S531S	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		13	1726	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		556			PDZ.		Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	c.1593G>A	CCDS47927.1																																																																																				0.692	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			23	39	0	0	0	0	23	39				
KANK1	23189	broad.mit.edu	37	9	712501	712501	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:712501G>C	ENST00000382303.1	+	7	2387	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.D421H|KANK1_ENST00000382297.2_Missense_Mutation_p.D579H	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	579					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGAAATGCATGACCGATGTGC	0.507																																						uc003zgl.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1735-1737)GAC>CAC		KN motif and ankyrin repeat domains 1 isoform a							255.0	239.0	244.0					9																	712501		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:712501G>C	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1735G>C	9.37:g.712501G>C	ENSP00000371740:p.Asp579His					KANK1_uc003zgm.2_Missense_Mutation_p.D579H|KANK1_uc003zgn.1_Missense_Mutation_p.D579H|KANK1_uc003zgo.1_Missense_Mutation_p.D579H|KANK1_uc003zgp.1_Missense_Mutation_p.D579H|KANK1_uc003zgq.2_Missense_Mutation_p.D421H|KANK1_uc003zgr.1_Missense_Mutation_p.D421H|KANK1_uc003zgs.1_Missense_Mutation_p.D421H	p.D579H	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2384	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	579					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1735G>C	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938038	0.34189	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.78595	-1.19;-1.19;-1.19	5.76	3.93	0.45458	.	0.000000	0.64402	D	0.000013	D	0.85737	0.5766	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.66847	0.947;0.823	D	0.86216	0.1628	10	0.87932	D	0	-1.2934	11.6956	0.51542	0.1429:0.0:0.8571:0.0	.	579;579	Q5W0W1;Q14678	.;KANK1_HUMAN	H	579;579;579;421	ENSP00000371740:D579H;ENSP00000371734:D579H;ENSP00000371730:D421H	ENSP00000346479:D579H	D	+	1	0	KANK1	702501	1.000000	0.71417	0.019000	0.16419	0.111000	0.19643	7.257000	0.78362	0.793000	0.33875	0.650000	0.86243	GAC		0.507	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		30	196	0	0	0	0	30	196				
DNAI1	27019	broad.mit.edu	37	9	34493300	34493300	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:34493300A>G	ENST00000242317.4	+	9	961	c.790A>G	c.(790-792)Agg>Ggg	p.R264G	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	264					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GATGGCCATGAGGAAGCTGAC	0.478									Kartagener syndrome																													uc003zum.2		NA																	0					0						c.(790-792)AGG>GGG		dynein, axonemal, intermediate chain 1							108.0	104.0	105.0					9																	34493300		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34493300A>G	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.790A>G	9.37:g.34493300A>G	ENSP00000242317:p.Arg264Gly						p.R264G	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	9	983	+	all_epithelial(49;0.244)		264					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.790A>G	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770409	0.49680	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.30182	1.54;1.54	5.36	4.2	0.49525	.	0.280045	0.32488	N	0.006038	T	0.26484	0.0647	L	0.50333	1.59	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.04454	-1.0950	10	0.32370	T	0.25	.	9.3085	0.37889	0.8185:0.1815:0.0:0.0	.	264	Q9UI46	DNAI1_HUMAN	G	253;264;253	ENSP00000242317:R264G;ENSP00000395396:R253G	ENSP00000242317:R264G	R	+	1	2	DNAI1	34483300	1.000000	0.71417	0.673000	0.29887	0.087000	0.18053	4.471000	0.60182	0.859000	0.35456	0.460000	0.39030	AGG		0.478	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			39	53	0	0	0	0	39	53				
TLN1	7094	broad.mit.edu	37	9	35706887	35706887	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:35706887G>C	ENST00000314888.9	-	38	5319	c.4966C>G	c.(4966-4968)Cca>Gca	p.P1656A	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.P1656A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1656	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGCCCTGGAGCCTTGTCC	0.582																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4966-4968)CCA>GCA		talin 1							74.0	72.0	73.0					9																	35706887		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35706887G>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4966C>G	9.37:g.35706887G>C	ENSP00000316029:p.Pro1656Ala						p.P1656A	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		38	5320	-	all_epithelial(49;0.167)		1656			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4966C>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601682	0.87055	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.16324	2.35;2.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	M	0.89601	3.045	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	T	0.61103	-0.7130	10	0.87932	D	0	-10.389	19.4242	0.94734	0.0:0.0:1.0:0.0	.	1656	Q9Y490	TLN1_HUMAN	A	1656	ENSP00000316029:P1656A;ENSP00000442981:P1656A	ENSP00000316029:P1656A	P	-	1	0	TLN1	35696887	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.013000	0.88655	2.590000	0.87494	0.561000	0.74099	CCA		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	116	0	0	0	0	4	116				
SPATA31D1	389763	broad.mit.edu	37	9	84609741	84609741	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:84609741G>A	ENST00000344803.2	+	4	4403	c.4356G>A	c.(4354-4356)gaG>gaA	p.E1452E		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1452					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGAGCAGAGCCTGTCCAGG	0.532																																						uc004amn.2		NA																	0					0						c.(4354-4356)GAG>GAA		hypothetical protein LOC389763							45.0	44.0	44.0					9																	84609741		1942	4132	6074	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84609741G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4356G>A	9.37:g.84609741G>A							p.E1452E	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	4403	+			1452						Silent	SNP	ENST00000344803.2	37	c.4356G>A	CCDS47986.1																																																																																				0.532	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		33	37	0	0	0	0	33	37				
OR13C4	138804	broad.mit.edu	37	9	107288743	107288743	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:107288743T>C	ENST00000277216.3	-	1	747	c.748A>G	c.(748-750)Ata>Gta	p.I250V		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CCATAAAATATGATCACCACA	0.453																																						uc011lvn.1		NA																	0				skin(1)	1						c.(748-750)ATA>GTA		olfactory receptor, family 13, subfamily C,							119.0	113.0	115.0					9																	107288743		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288743T>C		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.748A>G	9.37:g.107288743T>C	ENSP00000277216:p.Ile250Val						p.I250V	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	748	-			250			Helical; Name=6; (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.748A>G	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	T	6.952	0.545590	0.13312	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00107	8.72	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.135280	0.33199	U	0.005166	T	0.00144	0.0004	L	0.33753	1.03	0.24694	N	0.993294	B	0.15930	0.015	B	0.27380	0.079	T	0.19353	-1.0308	10	0.35671	T	0.21	.	10.963	0.47395	0.0:0.0:0.0:1.0	.	250	Q8NGS5	O13C4_HUMAN	V	250;279	ENSP00000277216:I250V	ENSP00000277216:I250V	I	-	1	0	OR13C4	106328564	0.000000	0.05858	0.993000	0.49108	0.864000	0.49448	0.132000	0.15891	1.734000	0.51633	0.377000	0.23210	ATA		0.453	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			80	63	0	0	0	0	80	63				
ABCA1	19	broad.mit.edu	37	9	107586827	107586827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:107586827G>A	ENST00000374736.3	-	18	2969	c.2575C>T	c.(2575-2577)Cct>Tct	p.P859S	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	859					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTGGTGCAAGGAAAATACCAG	0.507																																						uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(2575-2577)CCT>TCT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						104.0	96.0	99.0					9																	107586827		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107586827G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2575C>T	9.37:g.107586827G>A	ENSP00000363868:p.Pro859Ser						p.P859S	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	18	2888	-			859					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2575C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709213	0.89018	.	.	ENSG00000165029	ENST00000374736	T	0.75938	-0.98	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89378	0.6698	M	0.92604	3.325	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	D	0.91589	0.5285	10	0.72032	D	0.01	.	19.2214	0.93797	0.0:0.0:1.0:0.0	.	859	O95477	ABCA1_HUMAN	S	859	ENSP00000363868:P859S	ENSP00000363868:P859S	P	-	1	0	ABCA1	106626648	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.869000	0.99810	2.541000	0.85698	0.462000	0.41574	CCT		0.507	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		56	38	0	0	0	0	56	38				
TTC16	158248	broad.mit.edu	37	9	130485521	130485521	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:130485521C>T	ENST00000373289.3	+	7	861	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_Silent_p.L85L	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	261										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGCGGGGATCCTGGCTGTGCA	0.632																																						uc004brq.1		NA																	0					0						c.(781-783)CTG>TTG		tetratricopeptide repeat domain 16							70.0	61.0	64.0					9																	130485521		2203	4299	6502	SO:0001819	synonymous_variant	158248						binding	g.chr9:130485521C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.781C>T	9.37:g.130485521C>T						PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Silent_p.L248L|TTC16_uc004brr.1_Silent_p.L206L|TTC16_uc010mxn.1_5'UTR	p.L261L	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			7	848	+			261			TPR 4.		B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.781C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	0.880	-0.728899	0.03135	.	.	ENSG00000167094	ENST00000373288	.	.	.	5.03	2.84	0.33178	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.38329	-0.9666	4	.	.	.	-13.0137	4.3788	0.11284	0.2278:0.6411:0.0:0.1311	.	.	.	.	L	86	.	.	P	+	2	0	TTC16	129525342	0.220000	0.23631	0.500000	0.27589	0.086000	0.17979	0.805000	0.27112	1.201000	0.43203	0.462000	0.41574	CCT		0.632	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		41	22	0	0	0	0	41	22				
NUP188	23511	broad.mit.edu	37	9	131768858	131768858	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:131768858G>A	ENST00000372577.2	+	44	5172	c.5151G>A	c.(5149-5151)tcG>tcA	p.S1717S	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1717					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCCTCCCCTCGCCGCAGGGCA	0.612											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bws.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(5149-5151)TCG>TCA		nucleoporin 188kDa							85.0	85.0	85.0					9																	131768858		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131768858G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.5151G>A	9.37:g.131768858G>A			OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590		p.S1717S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			44	5173	+			1717					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.5151G>A	CCDS35156.1																																																																																				0.612	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			79	53	0	0	0	0	79	53				
DBH	1621	broad.mit.edu	37	9	136522303	136522303	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:136522303C>A	ENST00000393056.2	+	11	1686	c.1674C>A	c.(1672-1674)ttC>ttA	p.F558L	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	558					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TGTACAGCTTCGCGCCCATCT	0.632																																						uc004cel.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1672-1674)TTC>TTA		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						150.0	112.0	125.0					9																	136522303		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136522303C>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1674C>A	9.37:g.136522303C>A	ENSP00000376776:p.Phe558Leu					uc010nao.1_Silent_p.A26A	p.F558L	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	11	1683	+			558			Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1674C>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	6.339	0.430574	0.12045	.	.	ENSG00000123454	ENST00000393056	T	0.47528	0.84	5.07	-4.13	0.03904	.	0.219851	0.47455	D	0.000223	T	0.41673	0.1169	M	0.76838	2.35	0.31501	N	0.664792	B	0.19935	0.04	B	0.13407	0.009	T	0.50996	-0.8761	10	0.11485	T	0.65	-28.3572	14.7443	0.69480	0.0:0.1377:0.0:0.8623	.	558	P09172	DOPO_HUMAN	L	558	ENSP00000376776:F558L	ENSP00000376776:F558L	F	+	3	2	DBH	135512124	0.005000	0.15991	0.009000	0.14445	0.289000	0.27227	-1.439000	0.02414	-1.083000	0.03097	0.491000	0.48974	TTC		0.632	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		38	57	1	0	2.87e-16	4.39e-16	38	57				
TLR7	51284	broad.mit.edu	37	X	12904444	12904444	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:12904444T>G	ENST00000380659.3	+	3	956	c.817T>G	c.(817-819)Tgt>Ggt	p.C273G		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	273					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TTGTGCGCCGTGTAAAAATAA	0.388																																						uc004cvc.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(817-819)TGT>GGT		toll-like receptor 7 precursor	Imiquimod(DB00724)						112.0	107.0	109.0					X																	12904444		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904444T>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.817T>G	X.37:g.12904444T>G	ENSP00000370034:p.Cys273Gly						p.C273G	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	956	+			273			Extracellular (Potential).|LRR 9.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.817T>G	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428966	0.43122	.	.	ENSG00000196664	ENST00000380659	T	0.36520	1.25	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74067	-0.3784	10	0.87932	D	0	.	14.8322	0.70156	0.0:0.0:0.0:1.0	.	273	Q9NYK1	TLR7_HUMAN	G	273	ENSP00000370034:C273G	ENSP00000370034:C273G	C	+	1	0	TLR7	12814365	1.000000	0.71417	0.980000	0.43619	0.011000	0.07611	7.986000	0.88173	1.884000	0.54569	0.477000	0.44152	TGT		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		56	70	0	0	0	0	56	70				
MBTPS2	51360	broad.mit.edu	37	X	21863309	21863309	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:21863309T>G	ENST00000379484.5	+	3	344	c.245T>G	c.(244-246)tTt>tGt	p.F82C	MBTPS2_ENST00000365779.2_Missense_Mutation_p.F82C|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	82					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAATGGTGTTTGGCGTAATT	0.378																																						uc010nfq.2		NA																	0				breast(1)|skin(1)	2						c.(244-246)TTT>TGT		YY2 transcription factor							216.0	186.0	196.0					X																	21863309		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21863309T>G	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.245T>G	X.37:g.21863309T>G	ENSP00000368798:p.Phe82Cys					MBTPS2_uc004dae.2_Missense_Mutation_p.F82C|MBTPS2_uc004dab.2_Missense_Mutation_p.F82C	p.F82C	NM_206923	NP_996806	O15391	TYY2_HUMAN			3	442	+			Error:Variant_position_missing_in_O15391_after_alignment					Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.245T>G	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159309	0.57368	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94457	-3.43;-2.3	5.81	5.81	0.92471	.	0.096882	0.64402	D	0.000001	D	0.96898	0.8987	M	0.76002	2.32	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.876	D;B;B	0.85130	0.997;0.199;0.275	D	0.97067	0.9775	10	0.54805	T	0.06	-18.0833	15.1029	0.72296	0.0:0.0:0.0:1.0	.	82;82;82	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	C	82	ENSP00000368798:F82C;ENSP00000368796:F82C	ENSP00000368796:F82C	F	+	2	0	MBTPS2	21773230	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.486000	0.81215	1.949000	0.56562	0.486000	0.48141	TTT		0.378	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			59	60	0	0	0	0	59	60				
CHDC2	286464	broad.mit.edu	37	X	36162677	36162677	+	Splice_Site	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:36162677G>C	ENST00000313548.4	+	11	1446		c.e11-1			NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2							integral component of membrane (GO:0016021)											tttgtttctaggtgtgtctga	0.413																																						uc004ddk.1		NA																	0				central_nervous_system(1)	1						c.e11-1		hypothetical protein LOC286464							99.0	108.0	105.0					X																	36162677		2202	4300	6502	SO:0001630	splice_region_variant	286464					integral to membrane		g.chrX:36162677G>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1261-1G>C	X.37:g.36162677G>C							p.V421_splice	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			11	1447	+									Splice_Site	SNP	ENST00000313548.4	37	c.1261_splice	CCDS14238.1																																																																																				0.413	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	Intron	47	74	0	0	0	0	47	74				
USP9X	8239	broad.mit.edu	37	X	41069829	41069829	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:41069829G>T	ENST00000324545.8	+	33	5716	c.5083G>T	c.(5083-5085)Gat>Tat	p.D1695Y	USP9X_ENST00000378308.2_Missense_Mutation_p.D1695Y	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1695	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCATTGGTGGATAGTTTAGA	0.388																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(5083-5085)GAT>TAT		ubiquitin specific protease 9, X-linked isoform							112.0	107.0	109.0					X																	41069829		2183	4295	6478	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41069829G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5083G>T	X.37:g.41069829G>T	ENSP00000316357:p.Asp1695Tyr					USP9X_uc004dfc.2_Missense_Mutation_p.D1695Y	p.D1695Y	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			33	5716	+			1695					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5083G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548473	0.86127	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.08896	3.04;3.04	5.1	5.1	0.69264	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.49862	-0.8894	10	0.87932	D	0	.	17.6223	0.88085	0.0:0.0:1.0:0.0	.	1695;1695	Q93008-1;Q93008	.;USP9X_HUMAN	Y	1695	ENSP00000367558:D1695Y;ENSP00000316357:D1695Y	ENSP00000316357:D1695Y	D	+	1	0	USP9X	40954773	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.090000	0.63153	0.594000	0.82650	GAT		0.388	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		43	36	1	0	1.23e-20	1.94e-20	43	36				
HUWE1	10075	broad.mit.edu	37	X	53634558	53634558	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:53634558G>A	ENST00000342160.3	-	24	2879	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	HUWE1_ENST00000218328.8_Missense_Mutation_p.L808F|HUWE1_ENST00000262854.6_Missense_Mutation_p.L808F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	808					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATTGGGAAGACCCAAAATG	0.438																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(2422-2424)CTT>TTT		HECT, UBA and WWE domain containing 1							131.0	103.0	112.0					X																	53634558		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53634558G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2422C>T	X.37:g.53634558G>A	ENSP00000340648:p.Leu808Phe						p.L808F	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			25	2824	-			808					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2422C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790756	0.90367	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.56941	0.43;0.43;0.43	5.39	5.39	0.77823	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.076642	0.52532	D	0.000073	T	0.73071	0.3540	M	0.78049	2.395	0.58432	D	0.999999	D	0.76494	0.999	D	0.70487	0.969	T	0.76561	-0.2914	10	0.72032	D	0.01	.	16.8004	0.85612	0.0:0.0:1.0:0.0	.	808	Q7Z6Z7	HUWE1_HUMAN	F	808	ENSP00000340648:L808F;ENSP00000262854:L808F;ENSP00000218328:L808F	ENSP00000218328:L808F	L	-	1	0	HUWE1	53651283	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.889000	0.69766	2.492000	0.84095	0.600000	0.82982	CTT		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		10	92	0	0	0	0	10	92				
TSR2	90121	broad.mit.edu	37	X	54469925	54469925	+	Splice_Site	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:54469925G>T	ENST00000375151.4	+	3	285		c.e3+1			NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)						rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						TCTGCCCCAGGTGAGCTTATC	0.512																																						uc004dte.2		NA																	0					0						c.e3+1		TSR2, 20S rRNA accumulation, homolog							110.0	97.0	101.0					X																	54469925		2203	4300	6503	SO:0001630	splice_region_variant	90121				rRNA processing		protein binding	g.chrX:54469925G>T	BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"""WGG motif containing 1"""					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.264+1G>T	X.37:g.54469925G>T						TSR2_uc004dtf.2_Splice_Site	p.Q88_splice	NM_058163	NP_477511	Q969E8	TSR2_HUMAN			3	266	+									Splice_Site	SNP	ENST00000375151.4	37	c.264_splice	CCDS14358.1	.	.	.	.	.	.	.	.	.	.	g	17.39	3.378541	0.61735	.	.	ENSG00000158526	ENST00000375151	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4965	0.84246	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSR2	54486650	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.838000	0.75359	2.151000	0.67156	0.591000	0.81541	.		0.512	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056802.1	NM_058163	Intron	51	125	1	0	7.05e-20	1.11e-19	51	125				
FAAH2	158584	broad.mit.edu	37	X	57313310	57313310	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:57313310G>A	ENST00000374900.4	+	1	172	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	18						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCGGGCGCTAGGCTTTCTCAT	0.562										HNSCC(52;0.14)																												uc004dvc.2		NA																	0				ovary(3)	3						c.(52-54)GGC>AGC		fatty acid amide hydrolase 2							41.0	33.0	36.0					X																	57313310		2203	4299	6502	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57313310G>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.52G>A	X.37:g.57313310G>A	ENSP00000364035:p.Gly18Ser	HNSCC(52;0.14)					p.G18S	NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN			1	201	+			18			Helical; (Potential).		Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.52G>A	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.518348	0.00967	.	.	ENSG00000165591	ENST00000374900	T	0.62364	0.03	1.7	1.7	0.24286	Amidase signature domain (1);	0.658638	0.13877	U	0.356609	T	0.35537	0.0935	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.41036	0.346	T	0.10894	-1.0610	10	0.21540	T	0.41	.	6.2542	0.20864	0.0:0.0:1.0:0.0	.	18	Q6GMR7	FAAH2_HUMAN	S	18	ENSP00000364035:G18S	ENSP00000364035:G18S	G	+	1	0	FAAH2	57330035	0.195000	0.23338	0.007000	0.13788	0.010000	0.07245	1.979000	0.40608	1.132000	0.42129	0.538000	0.68166	GGC		0.562	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		8	31	0	0	0	0	8	31				
KIAA2022	340533	broad.mit.edu	37	X	73960704	73960704	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:73960704C>T	ENST00000055682.6	-	3	4299	c.3688G>A	c.(3688-3690)Gct>Act	p.A1230T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1230					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGATGGCAGCCATGTATTTC	0.473																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3688-3690)GCT>ACT		hypothetical protein LOC340533							104.0	79.0	87.0					X																	73960704		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960704C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3688G>A	X.37:g.73960704C>T	ENSP00000055682:p.Ala1230Thr						p.A1230T	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	4305	-			1230					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3688G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507967	0.44558	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32753	1.44;1.44	4.94	2.12	0.27331	.	0.449576	0.27622	N	0.018547	T	0.18299	0.0439	L	0.27053	0.805	0.30076	N	0.809577	B	0.06786	0.001	B	0.11329	0.006	T	0.10941	-1.0608	10	0.66056	D	0.02	-0.7937	4.4149	0.11452	0.1604:0.6035:0.1512:0.0849	.	1230	Q5QGS0	K2022_HUMAN	T	1230	ENSP00000362567:A1230T;ENSP00000055682:A1230T	ENSP00000055682:A1230T	A	-	1	0	KIAA2022	73877429	0.840000	0.29493	0.950000	0.38849	0.980000	0.70556	1.310000	0.33551	0.113000	0.18004	-0.229000	0.12294	GCT		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		33	85	0	0	0	0	33	85				
ATRX	546	broad.mit.edu	37	X	76874427	76874427	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:76874427G>C	ENST00000373344.5	-	21	5509	c.5295C>G	c.(5293-5295)atC>atG	p.I1765M	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I1727M	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1765	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATTTTCCTTGATAAAATTAA	0.313			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5293-5295)ATC>ATG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						48.0	44.0	45.0					X																	76874427		2203	4293	6496	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76874427G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5295C>G	X.37:g.76874427G>C	ENSP00000362441:p.Ile1765Met					ATRX_uc004ecq.3_Missense_Mutation_p.I1727M|ATRX_uc004eco.3_Missense_Mutation_p.I1550M	p.I1765M	NM_000489	NP_000480	P46100	ATRX_HUMAN			21	5527	-			1765			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5295C>G	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.79|17.79	3.476029|3.476029	0.63737|0.63737	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|.	0.94232|.	-3.38;-3.38|.	5.5|5.5	4.63|4.63	0.57726|0.57726	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61937|.	0.2387|.	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.992;0.999|.	T|.	0.60378|.	-0.7275|.	10|.	0.87932|.	D|.	0|.	-4.5133|-4.5133	9.9546|9.9546	0.41660|0.41660	0.1627:0.0:0.8373:0.0|0.1627:0.0:0.8373:0.0	.|.	1727;1765|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	M|X	1765;1727|54	ENSP00000362441:I1765M;ENSP00000378967:I1727M|.	ENSP00000362441:I1765M|.	I|S	-|-	3|2	3|0	ATRX|ATRX	76761083|76761083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.169000|2.169000	0.42434|0.42434	2.279000|2.279000	0.76181|0.76181	0.600000|0.600000	0.82982|0.82982	ATC|TCA		0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	41	0	0	0	0	8	41				
PABPC5	140886	broad.mit.edu	37	X	90690736	90690736	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:90690736G>T	ENST00000312600.3	+	2	374	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	54	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCGTGATCCGGTGACCCGCAG	0.537																																						uc004efg.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(160-162)GTG>TTG		poly(A) binding protein, cytoplasmic 5							38.0	31.0	34.0					X																	90690736		2203	4299	6502	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690736G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.160G>T	X.37:g.90690736G>T	ENSP00000308012:p.Val54Leu					PABPC5_uc004eff.1_Intron	p.V54L	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	600	+			54			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.160G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148561	0.37923	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.15718	2.4	4.43	3.56	0.40772	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.053259	0.64402	D	0.000001	T	0.12135	0.0295	L	0.33792	1.035	0.35921	D	0.831816	B	0.18741	0.03	B	0.20184	0.028	T	0.09422	-1.0675	10	0.54805	T	0.06	.	5.9179	0.19065	0.2315:0.0:0.7685:0.0	.	54	Q96DU9	PABP5_HUMAN	L	54;22	ENSP00000308012:V54L	ENSP00000308012:V54L	V	+	1	0	PABPC5	90577392	0.989000	0.36119	0.977000	0.42913	0.986000	0.74619	1.660000	0.37397	1.206000	0.43276	0.600000	0.82982	GTG		0.537	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		14	17	1	0	1.36e-13	2.05e-13	14	17				
TNMD	64102	broad.mit.edu	37	X	99854535	99854535	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:99854535C>A	ENST00000373031.4	+	7	992	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	259					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						TGATCCCATGCTGGATGAGAG	0.478																																						uc004efy.3		NA																	0				central_nervous_system(1)	1						c.(775-777)CTG>ATG		tenomodulin							66.0	50.0	56.0					X																	99854535		2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99854535C>A	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.775C>A	X.37:g.99854535C>A	ENSP00000362122:p.Leu259Met					TNMD_uc004efz.2_3'UTR	p.L259M	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN			7	1001	+			259			Extracellular (Potential).		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.775C>A	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470537	0.63625	.	.	ENSG00000000005	ENST00000373031	T	0.39056	1.1	5.87	4.07	0.47477	.	0.085851	0.48286	D	0.000184	T	0.30103	0.0754	L	0.39898	1.24	0.35222	D	0.776094	B	0.15719	0.014	B	0.15484	0.013	T	0.30563	-0.9974	10	0.72032	D	0.01	-22.0137	3.5254	0.07757	0.1802:0.5187:0.0:0.3011	.	259	Q9H2S6	TNMD_HUMAN	M	259	ENSP00000362122:L259M	ENSP00000362122:L259M	L	+	1	2	TNMD	99741191	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.086000	0.30853	0.587000	0.29643	0.594000	0.82650	CTG		0.478	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		17	10	1	0	3.41e-10	4.99e-10	17	10				
ZMAT1	84460	broad.mit.edu	37	X	101139207	101139207	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:101139207C>G	ENST00000372782.3	-	7	1239	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	ZMAT1_ENST00000540921.1_Missense_Mutation_p.D398H|ZMAT1_ENST00000458570.1_Missense_Mutation_p.D227H|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	398						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTATGTAATCTTCAAGTTCA	0.413																																						uc004eim.2		NA																	0				ovary(1)	1						c.(679-681)GAT>CAT		zinc finger, matrin type 1 isoform 3							205.0	191.0	196.0					X																	101139207		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139207C>G	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1192G>C	X.37:g.101139207C>G	ENSP00000361868:p.Asp398His					ZMAT1_uc011mrl.1_Missense_Mutation_p.D398H|ZMAT1_uc004ein.2_Missense_Mutation_p.D227H|ZMAT1_uc011mrm.1_Missense_Mutation_p.D227H	p.D227H	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4177	-			227					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.679G>C	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675264	0.67928	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.44881	1.42;1.42;0.91	4.27	4.27	0.50696	.	0.144833	0.42053	D	0.000763	T	0.58235	0.2108	L	0.57536	1.79	0.58432	D	0.999998	D	0.89917	1.0	D	0.69307	0.963	T	0.62120	-0.6921	10	0.87932	D	0	-17.5206	13.5037	0.61471	0.0:1.0:0.0:0.0	.	398	Q5H9K5	ZMAT1_HUMAN	H	398;398;227	ENSP00000361868:D398H;ENSP00000437529:D398H;ENSP00000413044:D227H	ENSP00000361868:D398H	D	-	1	0	ZMAT1	101025863	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.300000	0.65721	2.353000	0.79882	0.513000	0.50165	GAT		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			14	310	0	0	0	0	14	310				
GRIA3	2892	broad.mit.edu	37	X	122318400	122318400	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:122318400A>G	ENST00000371251.1	+	1	65	c.13A>G	c.(13-15)Aag>Gag	p.K5E	GRIA3_ENST00000371256.5_Missense_Mutation_p.K5E|GRIA3_ENST00000542149.1_Missense_Mutation_p.K5E|GRIA3_ENST00000264357.5_Missense_Mutation_p.K5E|GRIA3_ENST00000371264.3_Missense_Mutation_p.K5E|GRIA3_ENST00000371266.1_Missense_Mutation_p.K5E|GRIA3_ENST00000541091.1_5'Flank			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	5					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGCCAGGCAGAAGAAAATGGG	0.483																																						uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(13-15)AAG>GAG		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						106.0	108.0	107.0					X																	122318400		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122318400A>G	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.13A>G	X.37:g.122318400A>G	ENSP00000360297:p.Lys5Glu					GRIA3_uc004etr.3_Missense_Mutation_p.K5E|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_5'Flank|GRIA3_uc010nqs.1_Missense_Mutation_p.K5E	p.K5E	NM_007325	NP_015564	P42263	GRIA3_HUMAN			2	306	+			5					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.13A>G	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058789	0.36277	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251	T;T;T;T	0.15718	2.57;2.4;2.57;2.57	5.3	5.3	0.74995	.	0.405411	0.23506	N	0.047446	T	0.12263	0.0298	L	0.29908	0.895	0.80722	D	1	P;B;B	0.45715	0.865;0.0;0.0	B;B;B	0.39503	0.301;0.0;0.0	T	0.06144	-1.0843	10	0.37606	T	0.19	.	9.3582	0.38179	0.8226:0.1774:0.0:0.0	.	5;5;5	Q4TT43;P42263;P42263-2	.;GRIA3_HUMAN;.	E	5	ENSP00000264357:K5E;ENSP00000446146:K5E;ENSP00000360302:K5E;ENSP00000360297:K5E	ENSP00000264357:K5E	K	+	1	0	GRIA3	122146081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.111000	0.50360	1.959000	0.56917	0.486000	0.48141	AAG		0.483	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		94	97	0	0	0	0	94	97				
SLITRK2	84631	broad.mit.edu	37	X	144906314	144906314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:144906314C>T	ENST00000370490.1	+	1	6626	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.R791*|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.R791*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.R791*|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.R791*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	791					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGAATCTCGACGCCAAAA	0.453																																						uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(2371-2373)CGA>TGA		SLIT and NTRK-like family, member 2 precursor							128.0	121.0	124.0					X																	144906314		2203	4300	6503	SO:0001587	stop_gained	84631					integral to membrane		g.chrX:144906314C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2371C>T	X.37:g.144906314C>T	ENSP00000359521:p.Arg791*					SLITRK2_uc010nsp.2_Nonsense_Mutation_p.R791*|SLITRK2_uc010nso.2_Nonsense_Mutation_p.R791*|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.R791*|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.R791*|SLITRK2_uc011mws.1_Nonsense_Mutation_p.R791*|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.R791*|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.R791*|CXorf1_uc004fch.2_5'Flank	p.R791*	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	3361	+	Acute lymphoblastic leukemia(192;6.56e-05)		791			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Nonsense_Mutation	SNP	ENST00000370490.1	37	c.2371C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	59	36.544755	0.99983	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	.	.	.	5.38	4.46	0.54185	.	0.072196	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3569	9.5847	0.39510	0.3376:0.6624:0.0:0.0	.	.	.	.	X	791	.	ENSP00000359521:R791X	R	+	1	2	SLITRK2	144714006	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.725000	0.47294	2.251000	0.74343	0.600000	0.82982	CGA		0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		98	109	0	0	0	0	98	109				
FLNA	2316	broad.mit.edu	37	X	153594777	153594777	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:153594777T>A	ENST00000369850.3	-	8	1363	c.1127A>T	c.(1126-1128)aAg>aTg	p.K376M	FLNA_ENST00000360319.4_Missense_Mutation_p.K376M|FLNA_ENST00000422373.1_Missense_Mutation_p.K376M|FLNA_ENST00000344736.4_Missense_Mutation_p.K376M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	376					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCTGTGACTTATCCACGTA	0.597																																						uc004fkk.2		NA																	0				breast(6)	6						c.(1126-1128)AAG>ATG		filamin A, alpha isoform 2							70.0	70.0	70.0					X																	153594777		2106	4223	6329	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153594777T>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1127A>T	X.37:g.153594777T>A	ENSP00000358866:p.Lys376Met					FLNA_uc010nuu.1_Missense_Mutation_p.K376M	p.K376M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			8	1376	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		376			Filamin 2.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1127A>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	5.860	0.342867	0.11069	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86432	-2.11;-2.11;-2.11;-2.12	4.78	4.78	0.61160	Immunoglobulin-like fold (1);	0.125508	0.49916	D	0.000125	D	0.82600	0.5072	L	0.41236	1.265	0.80722	D	1	B;B	0.31274	0.317;0.024	B;B	0.34652	0.187;0.016	T	0.79369	-0.1832	10	0.28530	T	0.3	.	13.5573	0.61768	0.0:0.0:0.0:1.0	.	376;376	P21333-2;P21333	.;FLNA_HUMAN	M	376;349;376;376;376	ENSP00000353467:K376M;ENSP00000416926:K376M;ENSP00000358866:K376M;ENSP00000358863:K376M	ENSP00000358863:K376M	K	-	2	0	FLNA	153247971	0.961000	0.32948	1.000000	0.80357	0.570000	0.35934	0.811000	0.27198	1.574000	0.49760	0.378000	0.23410	AAG		0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			13	73	0	0	0	0	13	73				
JTB	10899	broad.mit.edu	37	1	153949693	153949710	+	In_Frame_Del	DEL	CTGGGGGAGGCCAGGCCT	CTGGGGGAGGCCAGGCCT	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:153949693_153949710delCTGGGGGAGGCCAGGCCT	ENST00000271843.4	-	1	454_471	c.19_36delAGGCCTGGCCTCCCCCAG	c.(19-36)aggcctggcctcccccagdel	p.RPGLPQ7del	JTB_ENST00000356648.1_5'UTR|RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000368589.1_5'UTR|JTB_ENST00000471173.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	7					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)	p.P8P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTGGCGGCCCTGGGGGAGGCCAGGCCTCCCGGCACCC	0.638																																						uc001fds.2		NA																	1	Substitution - coding silent(1)		kidney(1)		0						c.(19-36)AGGCCTGGCCTCCCCCAGdel		jumping translocation breakpoint precursor																																				SO:0001651	inframe_deletion	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153949693_153949710delCTGGGGGAGGCCAGGCCT	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.19_36delAGGCCTGGCCTCCCCCAG	1.37:g.153949693_153949710delCTGGGGGAGGCCAGGCCT	ENSP00000271843:p.Arg7_Gln12del						p.RPGLPQ7del	NM_006694	NP_006685	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	742_759	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		7_12					O95442|Q6IB19|Q9P0Q4	In_Frame_Del	DEL	ENST00000271843.4	37	c.19_36delAGGCCTGGCCTCCCCCAG	CCDS1057.1																																																																																				0.638	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		18	153	NA	NA	NA	NA	18	153	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160264643	160264662	+	Splice_Site	DEL	CTTCCCTACAGAGGGAAGGA	CTTCCCTACAGAGGGAAGGA	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:160264643_160264662delCTTCCCTACAGAGGGAAGGA	ENST00000241704.7	-	24	2706_2710	c.2477_2481delTCCTTCCCTCTGTAGGGAAG	c.(2476-2481)gtcctt>g	p.VL826fs	COPA_ENST00000368069.3_Splice_Site_p.VL835fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	826					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTCCTCCCTTCCCTACAGAGGGAAGGAACAGAACGGA	0.491																																						uc009wti.2		NA																	0				ovary(1)|skin(1)	2						c.e24-1		coatomer protein complex, subunit alpha isoform																																				SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160264643_160264662delCTTCCCTACAGAGGGAAGGA	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2477-1TCCTTCCCTCTGTAGGGAAG>-	1.37:g.160264643_160264662delCTTCCCTACAGAGGGAAGGA						COPA_uc001fvv.3_Splice_Site_p.G835_splice	p.G826_splice	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		24	2871	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)							Q5T201|Q8IXZ9	Splice_Site	DEL	ENST00000241704.7	37	c.2477_splice	CCDS1202.1																																																																																				0.491	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Frame_Shift_Del	16	100	NA	NA	NA	NA	16	100	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216052268	216052268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:216052268delC	ENST00000307340.3	-	42	8782	c.8396delG	c.(8395-8397)ggtfs	p.G2799fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.G2799fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2799	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACCCATTACCCCCTGAGCA	0.443										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8395-8397)GGTfs		usherin isoform B							185.0	172.0	177.0					1																	216052268		2203	4300	6503	SO:0001589	frameshift_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052268delC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8396delG	1.37:g.216052268delC	ENSP00000305941:p.Gly2799fs	HNSCC(13;0.011)					p.G2799fs	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8783	-			2799			Fibronectin type-III 14.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	c.8396delG	CCDS31025.1																																																																																				0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		76	154	NA	NA	NA	NA	76	154	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18636297	18636298	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:18636297_18636298insT	ENST00000336349.5	-	3	1758_1759	c.1523_1524insA	c.(1522-1524)aatfs	p.N508fs	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	508	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGGGACTGAATTACTGACAGT	0.559																																						uc001moy.2		NA																	0				breast(1)	1						c.(1522-1524)AATfs		SPT2, Suppressor of Ty, domain containing 1																																				SO:0001589	frameshift_variant	144108							g.chr11:18636297_18636298insT	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1524dupA	11.37:g.18636299_18636299dupT	ENSP00000337991:p.Asn508fs					SPTY2D1_uc010rdi.1_Frame_Shift_Ins_p.N508fs	p.N508fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	1739_1740	-			508			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Ins	INS	ENST00000336349.5	37	c.1523_1524insA	CCDS31441.1																																																																																				0.559	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		33	76	NA	NA	NA	NA	33	76	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61179315	61179320	+	In_Frame_Del	DEL	GATGAG	GATGAG	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:61179315_61179320delGATGAG	ENST00000394888.4	-	8	1346_1351	c.1174_1179delCTCATC	c.(1174-1179)ctcatcdel	p.LI392del	CPSF7_ENST00000439958.3_In_Frame_Del_p.LI383del|CPSF7_ENST00000448745.1_In_Frame_Del_p.LI383del|CPSF7_ENST00000340437.4_In_Frame_Del_p.LI435del	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	392					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TAAGAGAGGAGATGAGGACACGGCAA	0.524																																						uc001nrq.2		NA																	0				central_nervous_system(1)	1						c.(1174-1179)CTCATCdel		pre-mRNA cleavage factor I, 59 kDa subunit																																				SO:0001651	inframe_deletion	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61179315_61179320delGATGAG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1174_1179delCTCATC	11.37:g.61179315_61179320delGATGAG	ENSP00000378352:p.Leu392_Ile393del					CPSF7_uc001nro.2_In_Frame_Del_p.LI383del|CPSF7_uc001nrp.2_In_Frame_Del_p.LI435del|CPSF7_uc001nrr.2_In_Frame_Del_p.LI383del	p.LI392del	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN			8	1308_1313	-			392_393					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	In_Frame_Del	DEL	ENST00000394888.4	37	c.1174_1179delCTCATC	CCDS44619.1																																																																																				0.524	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		29	82	NA	NA	NA	NA	29	82	---	---	---	---
ME3	10873	broad.mit.edu	37	11	86152375	86152378	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:86152375_86152378delAAAG	ENST00000393324.3	-	14	2011_2014	c.1758_1761delCTTT	c.(1756-1761)tcctttfs	p.SF586fs	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Frame_Shift_Del_p.SF586fs|ME3_ENST00000359636.2_Frame_Shift_Del_p.SF586fs	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	586					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				TGTCCAGTGTAAAGGAGTCATAGT	0.51																																						uc001pbz.2		NA																	0				ovary(1)	1						c.(1756-1761)TCCTTTfs		mitochondrial malic enzyme 3 precursor	NADH(DB00157)																																			SO:0001589	frameshift_variant	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86152375_86152378delAAAG	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1758_1761delCTTT	11.37:g.86152375_86152378delAAAG	ENSP00000376998:p.Ser586fs					ME3_uc001pca.2_Frame_Shift_Del_p.S586fs|ME3_uc009yvk.2_Frame_Shift_Del_p.S586fs	p.S586fs	NM_001014811	NP_001014811	Q16798	MAON_HUMAN			14	2012_2015	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	586_587					B7Z6V0|Q8TBJ0	Frame_Shift_Del	DEL	ENST00000393324.3	37	c.1758_1761delCTTT	CCDS8277.1																																																																																				0.510	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			54	157	NA	NA	NA	NA	54	157	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100934551	100934551	+	Frame_Shift_Del	DEL	C	C	-	rs267603738		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:100934551delC	ENST00000551379.1	+	7	1091	c.1063delC	c.(1063-1065)ccgfs	p.P355fs	NR1H4_ENST00000392986.3_Frame_Shift_Del_p.P345fs|NR1H4_ENST00000548884.1_Frame_Shift_Del_p.P341fs|NR1H4_ENST00000188403.7_Frame_Shift_Del_p.P351fs|NR1H4_ENST00000549996.1_Frame_Shift_Del_p.P294fs			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	355	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TAAGAAACTTCCGTCTGGGCA	0.398																																						uc001tht.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1063-1065)CCGfs		nuclear receptor subfamily 1, group H, member 4							161.0	153.0	156.0					12																	100934551		2203	4300	6503	SO:0001589	frameshift_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100934551delC	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1063delC	12.37:g.100934551delC	ENSP00000447149:p.Pro355fs					NR1H4_uc001thp.1_Frame_Shift_Del_p.P341fs|NR1H4_uc001thq.1_Frame_Shift_Del_p.P345fs|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Frame_Shift_Del_p.P345fs|NR1H4_uc010svk.1_Frame_Shift_Del_p.P294fs|NR1H4_uc001ths.1_Frame_Shift_Del_p.P351fs	p.P355fs	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			7	1091	+			355			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Frame_Shift_Del	DEL	ENST00000551379.1	37	c.1063delC	CCDS55876.1																																																																																				0.398	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		30	81	NA	NA	NA	NA	30	81	---	---	---	---
SRSF5	6430	broad.mit.edu	37	14	70238141	70238141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:70238141delC	ENST00000553521.1	+	9	2235	c.782delC	c.(781-783)tccfs	p.S261fs	SRSF5_ENST00000394366.2_Frame_Shift_Del_p.S261fs|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Frame_Shift_Del_p.S261fs|SRSF5_ENST00000553635.1_Frame_Shift_Del_p.S258fs			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	261	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AGGTCCCGGTCCCGATCAAGG	0.463																																						uc001xll.2		NA																	0					0						c.(781-783)TCCfs		splicing factor, arginine/serine-rich 5							120.0	130.0	127.0					14																	70238141		2203	4300	6503	SO:0001589	frameshift_variant	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70238141delC	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.782delC	14.37:g.70238141delC	ENSP00000452123:p.Ser261fs					SFRS5_uc001xlm.2_RNA|SFRS5_uc001xlo.2_Frame_Shift_Del_p.S261fs|SFRS5_uc001xlp.2_Frame_Shift_Del_p.S261fs|SFRS5_uc001xlq.2_Frame_Shift_Del_p.S258fs	p.S261fs	NM_006925	NP_008856	Q13243	SRSF5_HUMAN		all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)	9	2233	+			261			Arg/Ser-rich (RS domain).		O14797|Q16662|Q49AD6|Q6FGE0	Frame_Shift_Del	DEL	ENST00000553521.1	37	c.782delC	CCDS32109.1																																																																																				0.463	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		70	348	NA	NA	NA	NA	70	348	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92560173	92560173	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:92560173delA	ENST00000532032.1	-	4	246	c.237delT	c.(235-237)gttfs	p.V79fs	ATXN3_ENST00000429774.2_Frame_Shift_Del_p.V64fs|ATXN3_ENST00000340660.6_Frame_Shift_Del_p.V24fs|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.V79fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.V64fs|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000545170.1_Frame_Shift_Del_p.V79fs			P54252	ATX3_HUMAN	ataxin 3	79	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CATTGCTTATAACCTGTTAAG	0.353																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3		NA																	0					0						c.(235-237)GTTfs		ataxin 3 reference isoform							85.0	85.0	85.0					14																	92560173		2203	4300	6503	SO:0001589	frameshift_variant	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92560173delA	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.237delT	14.37:g.92560173delA	ENSP00000437157:p.Val79fs					ATXN3_uc010aug.2_Frame_Shift_Del_p.V64fs|ATXN3_uc001yad.3_Frame_Shift_Del_p.V24fs|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	p.V79fs	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	4	306	-		all_cancers(154;0.0768)	79			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Frame_Shift_Del	DEL	ENST00000532032.1	37	c.237delT																																																																																					0.353	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		32	78	NA	NA	NA	NA	32	78	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:7578469delC	ENST00000269305.4	-	5	650	c.461delG	c.(460-462)ggcfs	p.G154fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G154fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G154fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACGCGGGTGCCGGGCGGGGG	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		98	Substitution - Missense(62)|Deletion - Frameshift(14)|Whole gene deletion(8)|Insertion - In frame(5)|Unknown(5)|Deletion - In frame(4)	p.G154V(36)|p.G154G(12)|p.G154S(9)|p.0?(7)|p.G154D(6)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.G154fs*16(2)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.G154C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.D148fs*23(1)|p.P153_G154insX(1)	lung(34)|stomach(8)|oesophagus(8)|skin(7)|liver(6)|ovary(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|breast(4)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|pancreas(2)|thyroid(1)|soft_tissue(1)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM951223	TP53	M		c.(460-462)GGCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	51.0					17																	7578469		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578469delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.461delG	17.37:g.7578469delC	ENSP00000269305:p.Gly154fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.G154fs|TP53_uc002gih.2_Frame_Shift_Del_p.G154fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G22fs|TP53_uc010cng.1_Frame_Shift_Del_p.G22fs|TP53_uc002gii.1_Frame_Shift_Del_p.G22fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G154fs|TP53_uc010cni.1_Frame_Shift_Del_p.G154fs|TP53_uc002gij.2_Frame_Shift_Del_p.G154fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.G61fs|TP53_uc002gio.2_Frame_Shift_Del_p.G22fs|TP53_uc010vug.1_Frame_Shift_Del_p.G115fs	p.G154fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	655	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	154		G -> D (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.461delG	CCDS11118.1																																																																																				0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		95	50	NA	NA	NA	NA	95	50	---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44513281	44513282	+	In_Frame_Ins	INS	-	-	CCG			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:44513281_44513282insCCG	ENST00000291552.4	-	8	745_746	c.653_654insCGG	c.(652-654)ggt>ggCGGt	p.218_218G>GG	U2AF1_ENST00000486519.1_5'Flank|U2AF1_ENST00000459639.1_In_Frame_Ins_p.145_145G>GG|U2AF1_ENST00000398137.1_In_Frame_Ins_p.145_145G>GG|U2AF1_ENST00000380276.2_In_Frame_Ins_p.218_218G>GG	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	218	Arg/Gly/Ser-rich (RS domain).|Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|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)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cgccacctccaccaccgccacc	0.574			Mis		"""CLL, MDS"""																																	uc002zda.1		NA		Dom	yes		21	21q22.3	7307		U2 small nuclear RNA auxiliary factor 1			L					0					0						c.(652-654)GGT>GGCGGT		U2 small nuclear RNA auxillary factor 1 isoform																																				SO:0001652	inframe_insertion	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44513281_44513282insCCG	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.653_654insCGG	21.37:g.44513281_44513282insCCG	ENSP00000291552:p.Gly223dup					U2AF1_uc002zcy.1_In_Frame_Ins_p.145_145G>GG|U2AF1_uc002zcz.1_In_Frame_Ins_p.145_145G>GG|U2AF1_uc002zdb.1_In_Frame_Ins_p.218_218G>GG|U2AF1_uc010gpi.1_3'UTR	p.218_218G>GG	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN			8	737_738	-			218			Arg/Gly/Ser-rich (RS domain).|Poly-Gly.		Q701P4|Q71RF1	In_Frame_Ins	INS	ENST00000291552.4	37	c.653_654insCGG	CCDS13694.1																																																																																				0.574	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		9	113	NA	NA	NA	NA	9	113	---	---	---	---
