#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
C1orf86	199990	broad.mit.edu	37	1	2125504	2125504	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:2125504A>T	ENST00000378546.4	-	2	155	c.131T>A	c.(130-132)cTg>cAg	p.L44Q	C1orf86_ENST00000378545.3_Missense_Mutation_p.L147Q|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	44					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)	p.L44Q(1)		central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CACCGTGCGCAGTAGCTCGGC	0.672																																						uc001aiy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(130-132)CTG>CAG		hypothetical protein LOC199990 isoform 2							36.0	42.0	40.0					1																	2125504		2200	4300	6500	SO:0001583	missense	199990							g.chr1:2125504A>T	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.131T>A	1.37:g.2125504A>T	ENSP00000367808:p.Leu44Gln					C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron	p.L44Q	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	157	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	44					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	c.131T>A	CCDS38.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.39|17.39	3.378308|3.378308	0.61735|0.61735	.|.	.|.	ENSG00000162585|ENSG00000162585	ENST00000420515|ENST00000400918;ENST00000378546;ENST00000378545	.|T;T;T	.|0.55052	.|0.54;0.78;0.75	2.69|2.69	1.51|1.51	0.23008|0.23008	.|.	.|1.177540	.|0.06646	.|N	.|0.761928	T|T	0.50565|0.50565	0.1623|0.1623	.|.	.|.	.|.	0.27803|0.27803	N|N	0.942423|0.942423	.|P	.|0.50943	.|0.94	.|P	.|0.47981	.|0.563	T|T	0.43669|0.43669	-0.9377|-0.9377	4|9	.|0.66056	.|D	.|0.02	-15.368|-15.368	4.9465|4.9465	0.13993|0.13993	0.7302:0.0:0.0:0.2698|0.7302:0.0:0.0:0.2698	.|.	.|44	.|Q6NZ36	.|CA086_HUMAN	S|Q	44|44;44;147	.|ENSP00000383709:L44Q;ENSP00000367808:L44Q;ENSP00000367807:L147Q	.|ENSP00000367807:L147Q	C|L	-|-	1|2	0|0	C1orf86|C1orf86	2115364|2115364	0.113000|0.113000	0.22115|0.22115	0.873000|0.873000	0.34254|0.34254	0.795000|0.795000	0.44927|0.44927	1.842000|1.842000	0.39250|0.39250	0.408000|0.408000	0.25621|0.25621	0.379000|0.379000	0.24179|0.24179	TGC|CTG		0.672	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1		NM_182533		5	27	0	0	0	0.000602	0	5	27		
UBE4B	10277	broad.mit.edu	37	1	10166548	10166548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:10166548C>T	ENST00000343090.6	+	7	1178	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron	NM_001105562.2	NP_001099032.1			ubiquitination factor E4B									p.S368F(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCAGCAGTTCCAGACAGAGG	0.652																																						uc001aqs.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1102-1104)TCC>TTC		ubiquitination factor E4B isoform 1							51.0	61.0	58.0					1																	10166548		2086	4213	6299	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10166548C>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000343090.6:c.1103C>T	1.37:g.10166548C>T	ENSP00000343001:p.Ser368Phe					UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	p.S368F	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	7	1816	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	368						Missense_Mutation	SNP	ENST00000343090.6	37	c.1103C>T	CCDS41245.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317408	0.81469	.	.	ENSG00000130939	ENST00000343090	T	0.47869	0.83	5.47	4.56	0.56223	.	0.330678	0.28853	N	0.013921	T	0.32852	0.0843	N	0.22421	0.69	0.80722	D	1	P	0.38922	0.651	B	0.37833	0.259	T	0.06643	-1.0815	10	0.11182	T	0.66	-3.362	14.7342	0.69404	0.0:0.9302:0.0:0.0698	.	368	O95155	UBE4B_HUMAN	F	368	ENSP00000343001:S368F	ENSP00000343001:S368F	S	+	2	0	UBE4B	10089135	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	4.495000	0.60353	1.451000	0.47736	0.655000	0.94253	TCC		0.652	UBE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005016.1		NM_006048		10	43	0	0	0	0.001368	0	10	43		
EPHA2	1969	broad.mit.edu	37	1	16477395	16477395	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:16477395T>C	ENST00000358432.5	-	2	303	c.149A>G	c.(148-150)aAa>aGa	p.K50R	EPHA2_ENST00000461614.1_Intron	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	50	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K50R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACATACCCCTTTGCCATACGG	0.627																																						uc001aya.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(148-150)AAA>AGA		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						110.0	105.0	107.0					1																	16477395		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16477395T>C	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.149A>G	1.37:g.16477395T>C	ENSP00000351209:p.Lys50Arg					EPHA2_uc010oca.1_Missense_Mutation_p.K50R	p.K50R	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	2	286	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	50			Extracellular (Potential).		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.149A>G	CCDS169.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428522	0.43122	.	.	ENSG00000142627	ENST00000358432	T	0.09723	2.95	5.87	4.72	0.59763	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	1.248530	0.05631	N	0.581697	T	0.12689	0.0308	L	0.36672	1.1	0.40122	D	0.976618	B;B	0.15141	0.012;0.003	B;B	0.20384	0.029;0.003	T	0.05683	-1.0870	10	0.59425	D	0.04	.	9.3894	0.38363	0.0:0.0905:0.0:0.9095	.	50;50	B5A968;P29317	.;EPHA2_HUMAN	R	50	ENSP00000351209:K50R	ENSP00000351209:K50R	K	-	2	0	EPHA2	16349982	0.980000	0.34600	1.000000	0.80357	0.722000	0.41435	1.964000	0.40462	1.001000	0.39076	-0.408000	0.06270	AAA		0.627	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431		17	130	0	0	0	0.010504	0	17	130		
PADI1	29943	broad.mit.edu	37	1	17552363	17552363	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:17552363C>T	ENST00000375471.4	+	5	558	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	156					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R156W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAACTGTGACCGGGACAATCA	0.597																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(466-468)CGG>TGG		peptidylarginine deiminase type I	L-Citrulline(DB00155)						115.0	119.0	117.0					1																	17552363		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17552363C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.466C>T	1.37:g.17552363C>T	ENSP00000364620:p.Arg156Trp						p.R156W	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	5	558	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	156					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.466C>T	CCDS178.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553436	0.65425	.	.	ENSG00000142623	ENST00000375471	T	0.15834	2.39	4.91	2.67	0.31697	Protein-arginine deiminase (PAD), central domain (2);	0.483245	0.21546	N	0.072810	T	0.42585	0.1209	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44406	-0.9330	10	0.66056	D	0.02	-17.2757	11.662	0.51352	0.532:0.468:0.0:0.0	.	156	Q9ULC6	PADI1_HUMAN	W	156	ENSP00000364620:R156W	ENSP00000364620:R156W	R	+	1	2	PADI1	17424950	0.968000	0.33430	0.996000	0.52242	0.844000	0.47949	1.076000	0.30729	0.953000	0.37825	0.305000	0.20034	CGG		0.597	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1		NM_013358		20	162	0	0	0	0.007413	0	20	162		
UBR4	23352	broad.mit.edu	37	1	19449357	19449357	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:19449357G>C	ENST00000375254.3	-	66	9813	c.9786C>G	c.(9784-9786)tcC>tcG	p.S3262S	UBR4_ENST00000375217.2_Silent_p.S3255S|UBR4_ENST00000375226.2_Silent_p.S3238S|UBR4_ENST00000375267.2_Silent_p.S3262S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3262					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S3262S(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTGCAAGGCGGAGCCTGAGC	0.562																																						uc001bbi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9784-9786)TCC>TCG		retinoblastoma-associated factor 600							92.0	93.0	93.0					1																	19449357		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19449357G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9786C>G	1.37:g.19449357G>C						UBR4_uc001bbk.1_Silent_p.S909S	p.S3262S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	66	9790	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3262					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.9786C>G	CCDS189.1																																																																																				0.562	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		22	128	0	0	0	0.002299	0	22	128		
PLA2G2E	30814	broad.mit.edu	37	1	20248869	20248869	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:20248869C>G	ENST00000375116.3	-	3	265	c.208G>C	c.(208-210)Ggg>Cgg	p.G70R		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	70					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.G70R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	TCCAGACGCCCGTAGCAGCAG	0.612																																						uc001bct.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(208-210)GGG>CGG		phospholipase A2, group IIE precursor							45.0	45.0	45.0					1																	20248869		2203	4300	6503	SO:0001583	missense	30814				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20248869C>G	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.208G>C	1.37:g.20248869C>G	ENSP00000364257:p.Gly70Arg						p.G70R	NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	266	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	70					Q5VXJ8	Missense_Mutation	SNP	ENST00000375116.3	37	c.208G>C	CCDS200.1	.	.	.	.	.	.	.	.	.	.	C	6.633	0.485238	0.12641	.	.	ENSG00000188784	ENST00000375116	T	0.27402	1.67	5.84	3.98	0.46160	Phospholipase A2 (3);	0.429849	0.24502	N	0.037961	T	0.32102	0.0818	M	0.72479	2.2	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.33904	-0.9850	10	0.87932	D	0	-13.7686	8.2661	0.31815	0.0:0.7605:0.1566:0.0829	.	70	Q9NZK7	PA2GE_HUMAN	R	70	ENSP00000364257:G70R	ENSP00000364257:G70R	G	-	1	0	PLA2G2E	20121456	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.529000	0.23019	0.823000	0.34589	-0.264000	0.10439	GGG		0.612	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1		NM_014589		5	54	0	0	0	0.001168	0	5	54		
EPHA8	2046	broad.mit.edu	37	1	22903038	22903038	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:22903038G>A	ENST00000166244.3	+	3	560	c.488G>A	c.(487-489)cGt>cAt	p.R163H	EPHA8_ENST00000374644.4_Missense_Mutation_p.R163H|EPHA8_ENST00000538803.1_Missense_Mutation_p.R163H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	163	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R163H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGTGTGCGGCGTCTCAAGCTC	0.622																																						uc001bfx.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(487-489)CGT>CAT		ephrin receptor EphA8 isoform 1 precursor							95.0	82.0	86.0					1																	22903038		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903038G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.488G>A	1.37:g.22903038G>A	ENSP00000166244:p.Arg163His					EPHA8_uc001bfw.2_Missense_Mutation_p.R163H	p.R163H	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	613	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	163			Extracellular (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.488G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076263	0.55646	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.09817	2.94;2.94;2.94	4.23	4.23	0.50019	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.21427	0.0516	L	0.44542	1.39	0.45378	D	0.998367	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.988	T	0.01172	-1.1429	10	0.26408	T	0.33	.	10.6871	0.45850	0.0:0.0:0.8087:0.1913	.	163;163	P29322;P29322-2	EPHA8_HUMAN;.	H	163	ENSP00000166244:R163H;ENSP00000363775:R163H;ENSP00000440274:R163H	ENSP00000166244:R163H	R	+	2	0	EPHA8	22775625	0.873000	0.30073	1.000000	0.80357	0.900000	0.52787	2.211000	0.42825	2.176000	0.68965	0.442000	0.29010	CGT		0.622	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526		9	87	0	0	0	0.004482	0	9	87		
ASAP3	55616	broad.mit.edu	37	1	23763959	23763959	+	Missense_Mutation	SNP	C	C	T	rs267598442		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:23763959C>T	ENST00000336689.3	-	13	1153	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	ASAP3_ENST00000437606.2_Missense_Mutation_p.R361Q|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	370	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R370Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTGGTACGTCCGGTTGTCTGT	0.682																																						uc001bha.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1108-1110)CGG>CAG		ArfGAP with SH3 domain, ankyrin repeat and PH							58.0	64.0	62.0					1																	23763959		2203	4300	6503	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23763959C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1109G>A	1.37:g.23763959C>T	ENSP00000338769:p.Arg370Gln					ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_5'Flank|ASAP3_uc010odz.1_Missense_Mutation_p.R239Q|ASAP3_uc010oea.1_Missense_Mutation_p.R361Q|ASAP3_uc001bhb.2_5'UTR	p.R370Q	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			13	1233	-			370			PH.		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.1109G>A	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575614	0.96553	.	.	ENSG00000088280	ENST00000336689;ENST00000437606	T;T	0.34667	1.35;1.35	4.35	4.35	0.52113	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.67487	0.2898	M	0.91663	3.23	0.50467	D	0.999879	D;D;D	0.89917	0.995;1.0;0.996	P;D;P	0.76575	0.752;0.988;0.84	T	0.76721	-0.2855	10	0.87932	D	0	.	16.0192	0.80468	0.0:1.0:0.0:0.0	.	361;239;370	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	Q	370;361	ENSP00000338769:R370Q;ENSP00000408826:R361Q	ENSP00000338769:R370Q	R	-	2	0	ASAP3	23636546	1.000000	0.71417	0.993000	0.49108	0.702000	0.40608	7.194000	0.77789	2.441000	0.82636	0.485000	0.47835	CGG		0.682	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2		NM_017707		7	92	0	0	0	0.001984	0	7	92		
MYOM3	127294	broad.mit.edu	37	1	24392387	24392387	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:24392387A>C	ENST00000374434.3	-	29	3690	c.3528T>G	c.(3526-3528)atT>atG	p.I1176M	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.I69M|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.I1179M|MYOM3_ENST00000329601.7_Missense_Mutation_p.I1178M	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1176	Ig-like C2-type 3.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.I1176M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTGCCTCTTCAATGCAGAGAA	0.582																																						uc001bin.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(3526-3528)ATT>ATG		myomesin family, member 3							122.0	122.0	122.0					1																	24392387		1938	4148	6086	SO:0001583	missense	127294							g.chr1:24392387A>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3528T>G	1.37:g.24392387A>C	ENSP00000363557:p.Ile1176Met					MYOM3_uc001bil.3_Missense_Mutation_p.I69M|MYOM3_uc001bim.3_Missense_Mutation_p.I833M|MYOM3_uc001bio.2_Missense_Mutation_p.I1176M	p.I1176M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	29	3691	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1176			Ig-like C2-type 3.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3528T>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.075659	0.36662	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442;ENST00000329601	T;T;T;T	0.79247	1.02;-1.25;-1.25;0.18	5.76	-5.66	0.02451	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170739	0.49916	D	0.000130	T	0.81997	0.4941	M	0.74467	2.265	0.09310	N	1	D;D;D	0.89917	0.995;1.0;0.993	D;D;D	0.85130	0.947;0.997;0.979	T	0.74112	-0.3770	10	0.72032	D	0.01	.	8.0167	0.30385	0.4892:0.1801:0.3308:0.0	.	1176;1176;69	Q5VTT5-2;Q5VTT5;Q5VTT5-3	.;MYOM3_HUMAN;.	M	69;1176;1179;69;1178	ENSP00000342689:I69M;ENSP00000363557:I1176M;ENSP00000332670:I1179M;ENSP00000328415:I1178M	ENSP00000328415:I1178M	I	-	3	3	MYOM3	24264974	0.000000	0.05858	0.594000	0.28785	0.039000	0.13416	-0.594000	0.05733	-0.435000	0.07264	-0.132000	0.14878	ATT		0.582	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		238	61	0	0	0	0.00361	0	238	61		
PTP4A2	8073	broad.mit.edu	37	1	32381498	32381498	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:32381498G>C	ENST00000602725.1	-	2	604	c.187C>G	c.(187-189)Cta>Gta	p.L63V	PTP4A2_ENST00000470404.1_Missense_Mutation_p.L63V|PTP4A2_ENST00000356536.3_Missense_Mutation_p.L63V|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000344035.6_Missense_Mutation_p.L63V|PTP4A2_ENST00000457805.2_Intron			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	63					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)	p.L63V(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ACACTCACTAGAACGTGGATT	0.338																																						uc001bty.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(187-189)CTA>GTA		protein tyrosine phosphatase type IVA, member 2							56.0	52.0	54.0					1																	32381498		2203	4300	6503	SO:0001583	missense	8073					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr1:32381498G>C	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.187C>G	1.37:g.32381498G>C	ENSP00000473259:p.Leu63Val					PTP4A2_uc010ogs.1_Intron|PTP4A2_uc001btz.1_Missense_Mutation_p.L63V	p.L63V	NM_080391	NP_536316	Q12974	TP4A2_HUMAN			3	1181	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	63					A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Missense_Mutation	SNP	ENST00000602725.1	37	c.187C>G	CCDS348.1	.	.	.	.	.	.	.	.	.	.	g	12.11	1.840259	0.32513	.	.	ENSG00000184007	ENST00000344035;ENST00000356536;ENST00000470404;ENST00000468531	D	0.83591	-1.74	5.45	5.45	0.79879	Dual specificity phosphatase, catalytic domain (1);	0.148029	0.47093	D	0.000256	T	0.73434	0.3586	L	0.31804	0.96	0.58432	D	0.999993	B;B	0.22683	0.073;0.0	B;B	0.26969	0.075;0.004	T	0.66480	-0.5913	10	0.16896	T	0.51	-0.3436	12.6103	0.56547	0.0771:0.0:0.9229:0.0	.	63;63	Q12974-2;Q12974	.;TP4A2_HUMAN	V	63	ENSP00000344909:L63V	ENSP00000344909:L63V	L	-	1	2	PTP4A2	32154085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.615000	0.61190	2.729000	0.93468	0.586000	0.80456	CTA		0.338	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1		NM_080391		12	38	0	0	0	0.010729	0	12	38		
CSF3R	1441	broad.mit.edu	37	1	36941192	36941192	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:36941192C>T	ENST00000373106.1	-	4	694	c.147G>A	c.(145-147)aaG>aaA	p.K49K	CSF3R_ENST00000373104.1_Silent_p.K49K|CSF3R_ENST00000373103.1_Silent_p.K49K|CSF3R_ENST00000331941.5_Silent_p.K49K|CSF3R_ENST00000440588.2_Silent_p.K49K|CSF3R_ENST00000338937.5_Silent_p.K49K|CSF3R_ENST00000418048.2_Silent_p.K49K|CSF3R_ENST00000361632.4_Silent_p.K49K	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	49	Ig-like C2-type.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.K49K(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCAGTTCTGCTTGATGATGC	0.622																																						uc001caw.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(2)|ovary(1)	3						c.(145-147)AAG>AAA		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						49.0	44.0	46.0					1																	36941192		2203	4300	6503	SO:0001819	synonymous_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36941192C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.147G>A	1.37:g.36941192C>T						CSF3R_uc001cav.1_Silent_p.K49K|CSF3R_uc001cax.1_Silent_p.K49K|CSF3R_uc001cay.1_Silent_p.K49K	p.K49K	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			4	325	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	49			Ig-like C2-type.|Extracellular (Potential).			Silent	SNP	ENST00000373106.1	37	c.147G>A	CCDS413.1																																																																																				0.622	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2		NM_156039		20	17	0	0	0	0.00278	0	20	17		
MPL	4352	broad.mit.edu	37	1	43804317	43804317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:43804317C>T	ENST00000372470.3	+	3	359	c.317C>T	c.(316-318)cCg>cTg	p.P106L	MPL_ENST00000413998.2_Missense_Mutation_p.P106L	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	106					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.P106L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CTCTTCTTTCCGCTGCACCTC	0.562			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2		NaN	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	GRCh37	CM090043	MPL	M		c.(316-318)CCG>CTG		myeloproliferative leukemia virus oncogene							131.0	114.0	120.0					1																	43804317		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43804317C>T	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.317C>T	1.37:g.43804317C>T	ENSP00000361548:p.Pro106Leu					MPL_uc001civ.2_Missense_Mutation_p.P106L|MPL_uc009vwr.2_Missense_Mutation_p.P99L	p.P106L	NM_005373	NP_005364	P40238	TPOR_HUMAN			3	362	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	106			Extracellular (Potential).		Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.317C>T	CCDS483.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279263	0.23307	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.83419	-1.72;-1.72	5.37	0.604	0.17547	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.535915	0.20659	N	0.088052	T	0.74898	0.3777	L	0.54323	1.7	0.09310	N	1	P;B;P	0.41524	0.729;0.252;0.753	B;B;B	0.35655	0.181;0.084;0.207	T	0.63668	-0.6585	10	0.24483	T	0.36	-7.814	12.9226	0.58241	0.5706:0.4294:0.0:0.0	.	99;106;106	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	L	106	ENSP00000361548:P106L;ENSP00000414004:P106L	ENSP00000361546:P106L	P	+	2	0	MPL	43576904	0.000000	0.05858	0.001000	0.08648	0.725000	0.41563	-0.005000	0.12855	0.211000	0.20683	-0.270000	0.10280	CCG		0.562	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1		NM_005373		42	41	0	0	0	0.007835	0	42	41		
HYI	81888	broad.mit.edu	37	1	43917920	43917920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:43917920C>T	ENST00000372425.4	-	3	577	c.382G>A	c.(382-384)Gtt>Att	p.V128I	HYI_ENST00000372434.1_Missense_Mutation_p.V153I|HYI_ENST00000372432.1_Missense_Mutation_p.V128I|SZT2_ENST00000372442.1_3'UTR|HYI-AS1_ENST00000444386.1_RNA|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.V128I|HYI_ENST00000372426.1_Missense_Mutation_p.V80I|HYI_ENST00000583037.1_Missense_Mutation_p.V55I			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	128							hydroxypyruvate isomerase activity (GO:0008903)	p.V128I(1)|p.V55I(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCAGAAAAACGGCCTCCATC	0.562																																						uc001cjo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(382-384)GTT>ATT		hydroxypyruvate isomerase homolog							186.0	158.0	168.0					1																	43917920		2203	4300	6503	SO:0001583	missense	81888						hydroxypyruvate isomerase activity	g.chr1:43917920C>T		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.382G>A	1.37:g.43917920C>T	ENSP00000361502:p.Val128Ile					KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Missense_Mutation_p.V55I|HYI_uc001cjn.2_Missense_Mutation_p.V128I|HYI_uc001cjp.2_Missense_Mutation_p.V55I	p.V128I	NM_031207	NP_112484	Q5T013	HYI_HUMAN			3	552	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	128					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.382G>A	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754255	0.31046	.	.	ENSG00000178922	ENST00000372425;ENST00000372433;ENST00000372434;ENST00000372430;ENST00000372432;ENST00000372427;ENST00000372426;ENST00000486909	T;T;T;T;T	0.43294	0.95;1.16;0.95;0.95;0.95	5.49	5.49	0.81192	Xylose isomerase-like, TIM barrel domain (2);Xylose isomerase, TIM barrel domain (1);	0.404774	0.26013	N	0.026867	T	0.30978	0.0782	L	0.35487	1.065	0.23636	N	0.997237	B	0.21225	0.053	B	0.22753	0.041	T	0.15521	-1.0434	10	0.56958	D	0.05	.	7.49	0.27456	0.0:0.8004:0.0:0.1996	.	128	Q5T013	HYI_HUMAN	I	128;46;80;55;128;61;80;128	ENSP00000361502:V128I;ENSP00000361507:V55I;ENSP00000361509:V128I;ENSP00000361503:V80I;ENSP00000428399:V128I	ENSP00000361502:V128I	V	-	1	0	HYI	43690507	0.998000	0.40836	0.854000	0.33618	0.091000	0.18340	3.429000	0.52800	2.757000	0.94681	0.462000	0.41574	GTT		0.562	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_031207		3	19	0	0	0	0.004672	0	3	19		
ZFYVE9	9372	broad.mit.edu	37	1	52704303	52704303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:52704303C>G	ENST00000371591.1	+	3	1345	c.1214C>G	c.(1213-1215)aCt>aGt	p.T405S	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.T405S|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T405S	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	405					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.T405S(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGGAAGTTGACTAAACTAAAT	0.373																																						uc001cto.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1213-1215)ACT>AGT		zinc finger, FYVE domain containing 9 isoform 3							76.0	75.0	75.0					1																	52704303		2203	4299	6502	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704303C>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1214C>G	1.37:g.52704303C>G	ENSP00000360647:p.Thr405Ser					ZFYVE9_uc001ctn.2_Missense_Mutation_p.T405S|ZFYVE9_uc001ctp.2_Missense_Mutation_p.T405S	p.T405S	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1386	+			405					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1214C>G	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	6.827	0.521655	0.13005	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.56275	0.95;0.47;0.98;0.98	5.06	4.14	0.48551	.	0.314890	0.26879	N	0.022027	T	0.33381	0.0861	N	0.04508	-0.205	0.22050	N	0.999392	B;B;B	0.33940	0.011;0.016;0.433	B;B;B	0.38264	0.006;0.004;0.269	T	0.20806	-1.0264	10	0.19147	T	0.46	.	15.4381	0.75162	0.0:0.7382:0.2618:0.0	.	405;405;405	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	S	405	ENSP00000349737:T405S;ENSP00000355358:T405S;ENSP00000287727:T405S;ENSP00000360647:T405S	ENSP00000287727:T405S	T	+	2	0	ZFYVE9	52476891	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	3.583000	0.53928	1.354000	0.45846	-0.175000	0.13238	ACT		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		34	85	0	0	0	0.010818	0	34	85		
LPAR3	23566	broad.mit.edu	37	1	85331472	85331472	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:85331472C>T	ENST00000440886.1	-	1	370	c.332G>A	c.(331-333)aGt>aAt	p.S111N	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.S111N			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	111					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.S111N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AGTCAAGCTACTGTCCAGAAG	0.498																																						uc001dkl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(2)	5						c.(331-333)AGT>AAT		lysophosphatidic acid receptor 3							178.0	185.0	182.0					1																	85331472		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331472C>T	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.332G>A	1.37:g.85331472C>T	ENSP00000395389:p.Ser111Asn					LPAR3_uc009wcj.1_Missense_Mutation_p.S111N	p.S111N	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	371	-			111			Helical; Name=3; (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.332G>A	CCDS700.1	.	.	.	.	.	.	.	.	.	.	c	9.024	0.985669	0.18889	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.72282	-0.64;-0.64	5.65	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.379769	0.32190	N	0.006441	T	0.52208	0.1720	L	0.52905	1.665	0.19575	N	0.999969	B	0.15719	0.014	B	0.18871	0.023	T	0.54820	-0.8236	10	0.72032	D	0.01	.	16.4522	0.83994	0.0:0.2487:0.7513:0.0	.	111	Q9UBY5	LPAR3_HUMAN	N	111	ENSP00000395389:S111N;ENSP00000359643:S111N	ENSP00000359643:S111N	S	-	2	0	LPAR3	85104060	1.000000	0.71417	0.288000	0.24862	0.091000	0.18340	5.527000	0.67123	0.751000	0.32900	-0.824000	0.03097	AGT		0.498	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1		NM_012152		114	104	0	0	0	0.00361	0	114	104		
ARHGAP29	9411	broad.mit.edu	37	1	94650459	94650459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:94650459G>T	ENST00000260526.6	-	18	2260	c.2078C>A	c.(2077-2079)tCa>tAa	p.S693*	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	693	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.S693*(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCAATCTCTGAGGCACATAT	0.333																																						uc001dqj.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(1)|breast(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(2077-2079)TCA>TAA		PTPL1-associated RhoGAP 1							73.0	75.0	74.0					1																	94650459		2201	4299	6500	SO:0001587	stop_gained	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94650459G>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2078C>A	1.37:g.94650459G>T	ENSP00000260526:p.Ser693*					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Nonsense_Mutation_p.S259*	p.S693*	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	18	2447	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	693			Rho-GAP.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Nonsense_Mutation	SNP	ENST00000260526.6	37	c.2078C>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	39	7.804794	0.98498	.	.	ENSG00000137962	ENST00000260526	.	.	.	5.3	5.3	0.74995	.	0.301444	0.18352	N	0.143849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0973	18.9478	0.92628	0.0:0.0:1.0:0.0	.	.	.	.	X	693	.	ENSP00000260526:S693X	S	-	2	0	ARHGAP29	94423047	0.988000	0.35896	1.000000	0.80357	0.977000	0.68977	5.818000	0.69236	2.455000	0.83008	0.557000	0.71058	TCA		0.333	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2		NM_004815		18	71	1	0	1.45105e-14	0.006122	1.62725e-14	18	71		
KCNA2	3737	broad.mit.edu	37	1	111146201	111146201	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:111146201T>A	ENST00000485317.1	-	3	1877	c.1204A>T	c.(1204-1206)Att>Ttt	p.I402F	KCNA2_ENST00000316361.4_Missense_Mutation_p.I402F|KCNA2_ENST00000440270.1_Missense_Mutation_p.I402F|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	402					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.I402F(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	GGTAAGGCAATAGTTAACACA	0.498																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1204-1206)ATT>TTT		potassium voltage-gated channel, shaker-related							120.0	115.0	117.0					1																	111146201		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146201T>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1204A>T	1.37:g.111146201T>A	ENSP00000433109:p.Ile402Phe					KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.I402F	p.I402F	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1700	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	402			Helical; Name=Segment S6; (Potential).		Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.1204A>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529888	0.64860	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.98567	-5.0;-5.0;-5.0	5.16	5.16	0.70880	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	M	0.76002	2.32	0.80722	D	1	D	0.61080	0.989	P	0.62813	0.907	D	0.99651	1.0991	10	0.87932	D	0	.	14.9906	0.71384	0.0:0.0:0.0:1.0	.	402	P16389	KCNA2_HUMAN	F	402	ENSP00000433109:I402F;ENSP00000415257:I402F;ENSP00000314520:I402F	ENSP00000314520:I402F	I	-	1	0	KCNA2	110947724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.988000	0.88194	1.944000	0.56390	0.533000	0.62120	ATT		0.498	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2		NM_004974		41	46	0	0	0	0.006999	0	41	46		
CTTNBP2NL	55917	broad.mit.edu	37	1	112999502	112999502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:112999502G>A	ENST00000271277.6	+	6	1613	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	463					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.R463H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGCAGCTCGCCACAAATTT	0.542																																						uc001ebx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(1387-1389)CGC>CAC		CTTNBP2 N-terminal like							116.0	123.0	121.0					1																	112999502		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999502G>A	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1388G>A	1.37:g.112999502G>A	ENSP00000271277:p.Arg463His					CTTNBP2NL_uc001ebz.2_RNA	p.R463H	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1616	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	463					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1388G>A	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335660	0.81801	.	.	ENSG00000143079	ENST00000271277	T	0.50548	0.74	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59794	-0.7387	10	0.28530	T	0.3	-16.4589	18.598	0.91236	0.0:0.0:1.0:0.0	.	463	Q9P2B4	CT2NL_HUMAN	H	463	ENSP00000271277:R463H	ENSP00000271277:R463H	R	+	2	0	CTTNBP2NL	112801025	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.476000	0.97823	2.490000	0.84030	0.462000	0.41574	CGC		0.542	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1		NM_018704		40	120	0	0	0	0.00623	0	40	120		
HRNR	388697	broad.mit.edu	37	1	152187692	152187692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:152187692G>A	ENST00000368801.2	-	3	6488	c.6413C>T	c.(6412-6414)tCt>tTt	p.S2138F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2138					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2138F(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGATCTAGAGCCGTGTTG	0.572																																						uc001ezt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(6412-6414)TCT>TTT		hornerin							140.0	156.0	151.0					1																	152187692		1600	3262	4862	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187692G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6413C>T	1.37:g.152187692G>A	ENSP00000357791:p.Ser2138Phe						p.S2138F	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6489	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2138					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6413C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.484	0.649283	0.14516	.	.	ENSG00000197915	ENST00000368801	T	0.02525	4.26	3.66	3.66	0.41972	.	.	.	.	.	T	0.02970	0.0088	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.49790	-0.8902	9	0.27785	T	0.31	.	7.2059	0.25907	0.1238:0.0:0.8762:0.0	.	2138	Q86YZ3	HORN_HUMAN	F	2138	ENSP00000357791:S2138F	ENSP00000357791:S2138F	S	-	2	0	HRNR	150454316	0.064000	0.20934	0.006000	0.13384	0.001000	0.01503	1.742000	0.38248	2.050000	0.60909	0.603000	0.83216	TCT		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		26	673	0	0	0	0.002836	0	26	673		
ATP8B2	57198	broad.mit.edu	37	1	154321348	154321348	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:154321348G>C	ENST00000368489.3	+	28	3426	c.3426G>C	c.(3424-3426)caG>caC	p.Q1142H		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1128					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q1142H(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAAGAAGCAGAAGGCCCAGC	0.637																																						uc001fex.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(3424-3426)CAG>CAC		ATPase, class I, type 8B, member 2 isoform a							25.0	27.0	26.0					1																	154321348		2201	4300	6501	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154321348G>C	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3426G>C	1.37:g.154321348G>C	ENSP00000357475:p.Gln1142His						p.Q1142H	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		28	3426	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1128			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.3426G>C	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572585	0.28092	.	.	ENSG00000143515	ENST00000368489	T	0.61040	0.14	4.23	3.31	0.37934	.	1.268410	0.05335	N	0.528984	T	0.35219	0.0924	N	0.16903	0.455	0.80722	D	1	P	0.40180	0.705	P	0.49085	0.6	T	0.34551	-0.9824	10	0.36615	T	0.2	.	6.2417	0.20795	0.0974:0.0:0.7198:0.1827	.	1142	P98198-3	.	H	1142	ENSP00000357475:Q1142H	ENSP00000357475:Q1142H	Q	+	3	2	ATP8B2	152587972	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.913000	0.39956	0.984000	0.38629	0.561000	0.74099	CAG		0.637	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2		NM_020452		11	7	0	0	0	0.00245	0	11	7		
CFAP45	25790	broad.mit.edu	37	1	159842832	159842832	+	Silent	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:159842832C>G	ENST00000368099.4	-	11	1543	c.1479G>C	c.(1477-1479)cgG>cgC	p.R493R	RP11-190A12.7_ENST00000544342.1_5'Flank|CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Silent_p.R408R	NM_012337.2	NP_036469.2												p.R493R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGGTGGCAATCCGGTTCTGCA	0.592																																						uc001fui.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1477-1479)CGG>CGC		nasopharyngeal epithelium specific protein 1							85.0	81.0	82.0					1																	159842832		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159842832C>G																												ENST00000368099.4:c.1479G>C	1.37:g.159842832C>G						CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.R408R|CCDC19_uc001ful.2_Silent_p.R408R	p.R493R	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		11	1497	-	all_hematologic(112;0.0597)		493			Potential.			Silent	SNP	ENST00000368099.4	37	c.1479G>C	CCDS30914.1																																																																																				0.592	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1				56	184	0	0	0	0.00361	0	56	184		
VANGL2	57216	broad.mit.edu	37	1	160389046	160389046	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:160389046C>A	ENST00000368061.2	+	4	921	c.447C>A	c.(445-447)ttC>ttA	p.F149L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	149					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.F149L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGCCTCTTCATCTCTGTCG	0.662																																						uc001fwb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(445-447)TTC>TTA		vang-like 2							51.0	51.0	51.0					1																	160389046		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389046C>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.447C>A	1.37:g.160389046C>A	ENSP00000357040:p.Phe149Leu					VANGL2_uc001fwc.1_Missense_Mutation_p.F149L	p.F149L	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	746	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		149			Helical; Name=2; (Potential).		D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.447C>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	6.677	0.493562	0.12702	.	.	ENSG00000162738	ENST00000368061	T	0.78707	-1.2	5.08	3.07	0.35406	.	0.060329	0.64402	D	0.000002	T	0.36054	0.0953	N	0.13299	0.325	0.43039	D	0.994624	B	0.29481	0.245	B	0.32090	0.14	T	0.43376	-0.9395	10	0.02654	T	1	-29.1393	8.9749	0.35930	0.0:0.7668:0.1498:0.0834	.	149	Q9ULK5	VANG2_HUMAN	L	149	ENSP00000357040:F149L	ENSP00000357040:F149L	F	+	3	2	VANGL2	158655670	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.384000	0.44362	1.257000	0.44085	0.563000	0.77884	TTC		0.662	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1		NM_020335		18	171	1	0	3.32936e-07	0.006122	3.51993e-07	18	171		
CD244	51744	broad.mit.edu	37	1	160801216	160801216	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:160801216A>G	ENST00000368033.3	-	9	1116	c.1034T>C	c.(1033-1035)aTt>aCt	p.I345T	CD244_ENST00000368034.4_Splice_Site_p.I340T|CD244_ENST00000322302.7_Splice_Site_p.I248T|CD244_ENST00000481677.1_5'Flank			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	345					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.I340T(1)|p.I345T(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTTTCCAATCTGCAAAAG	0.443																																						uc009wtq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1033-1035)ATT>ACT		CD244 natural killer cell receptor 2B4							105.0	102.0	103.0					1																	160801216		2203	4300	6503	SO:0001630	splice_region_variant	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160801216A>G	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.1033-1T>C	1.37:g.160801216A>G						CD244_uc001fxa.2_Missense_Mutation_p.I340T|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.I248T	p.I345T	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		9	1212	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		345			Cytoplasmic (Potential).		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.1034T>C	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131323	0.56828	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302	T;T;T	0.37584	3.21;2.61;1.19	3.83	3.83	0.44106	.	0.951761	0.08585	N	0.923954	T	0.15825	0.0381	N	0.19112	0.55	0.80722	D	1	P;P;P	0.47910	0.782;0.842;0.902	B;B;B	0.43301	0.188;0.236;0.415	T	0.03910	-1.0993	10	0.72032	D	0.01	-22.6381	9.3255	0.37990	1.0:0.0:0.0:0.0	.	248;345;340	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	T	340;345;248	ENSP00000357013:I340T;ENSP00000357012:I345T;ENSP00000313619:I248T	ENSP00000313619:I248T	I	-	2	0	CD244	159067840	1.000000	0.71417	0.983000	0.44433	0.134000	0.20937	3.498000	0.53302	1.972000	0.57404	0.460000	0.39030	ATT		0.443	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1		NM_016382	Missense_Mutation	27	306	0	0	0	0.007291	0	27	306		
SELL	6402	broad.mit.edu	37	1	169677940	169677940	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:169677940G>A	ENST00000236147.4	-	3	289	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	30					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.F30F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GATGTGCCAGGAAATCTGCAA	0.433																																						uc001ggk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(88-90)TTC>TTT		selectin L precursor							25.0	22.0	23.0					1																	169677940		1900	4094	5994	SO:0001819	synonymous_variant	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169677940G>A	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.129C>T	1.37:g.169677940G>A						C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_5'UTR|SELL_uc001ggl.1_Silent_p.F43F	p.F30F	NM_000655	NP_000646	P14151	LYAM1_HUMAN			3	288	-	all_hematologic(923;0.208)		30					B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	c.90C>T	CCDS53427.1																																																																																				0.433	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1		NM_000655		4	4	0	0	0	0.009096	0	4	4		
ATP2B4	493	broad.mit.edu	37	1	203667472	203667472	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:203667472A>G	ENST00000357681.5	+	3	1504	c.381A>G	c.(379-381)gaA>gaG	p.E127E	ATP2B4_ENST00000391954.2_Silent_p.E127E|ATP2B4_ENST00000341360.2_Silent_p.E127E|ATP2B4_ENST00000367218.3_Silent_p.E127E|ATP2B4_ENST00000367219.3_Silent_p.E127E	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	127					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.E127E(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGCTGGTGAAGAAAATGAAC	0.483																																						uc001gzw.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(379-381)GAA>GAG		plasma membrane calcium ATPase 4 isoform 4b							123.0	104.0	110.0					1																	203667472		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667472A>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.381A>G	1.37:g.203667472A>G						ATP2B4_uc001gzv.2_Silent_p.E127E|ATP2B4_uc009xaq.2_Silent_p.E127E	p.E127E	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1265	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		127			Extracellular (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.381A>G	CCDS1440.1																																																																																				0.483	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		23	65	0	0	0	0.012319	0	23	65		
PIGR	5284	broad.mit.edu	37	1	207109079	207109079	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:207109079T>C	ENST00000356495.4	-	5	1313	c.1130A>G	c.(1129-1131)gAa>gGa	p.E377G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	377	Ig-like V-type 4.				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)	p.E377G(1)		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						GCTTTTGCTTTCCTTACGGTT	0.622											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hez.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1129-1131)GAA>GGA		polymeric immunoglobulin receptor precursor							36.0	40.0	38.0					1																	207109079		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207109079T>C		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.1130A>G	1.37:g.207109079T>C	ENSP00000348888:p.Glu377Gly		OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PIGR_uc009xbz.2_Missense_Mutation_p.E377G	p.E377G	NM_002644	NP_002635	P01833	PIGR_HUMAN			5	1314	-			377			Ig-like V-type 4.|Extracellular (Potential).		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1130A>G	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284364	0.40394	.	.	ENSG00000162896	ENST00000356495	T	0.67698	-0.28	5.55	3.26	0.37387	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.542173	0.19105	N	0.122618	T	0.73682	0.3618	M	0.69248	2.105	0.09310	N	1	D	0.59767	0.986	P	0.62014	0.897	T	0.61768	-0.6995	10	0.33141	T	0.24	-9.5111	7.6039	0.28091	0.0:0.1684:0.0:0.8316	.	377	P01833	PIGR_HUMAN	G	377	ENSP00000348888:E377G	ENSP00000348888:E377G	E	-	2	0	PIGR	205175702	0.000000	0.05858	0.047000	0.18901	0.005000	0.04900	0.617000	0.24359	0.419000	0.25927	0.533000	0.62120	GAA		0.622	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1		NM_002644		21	4	0	0	0	0.00278	0	21	4		
DCLRE1CP1	100289151	broad.mit.edu	37	10	15058950	15058950	+	IGR	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:15058950C>T								MEIG1 (28901 upstream) : OLAH (26944 downstream)																							TATTCATAGCCATAAGCCGCT	0.393																																						uc010qby.1		NaN																	0					0						c.(241-243)GGC>AGC		SubName: Full=cDNA FLJ52263, highly similar to Artemis protein (EC 3.1.-.-);																																				SO:0001628	intergenic_variant	414149						fatty-acyl-CoA binding	g.chr10:15058950C>T																													10.37:g.15058950C>T							p.G81S			Q8N6N7	ACBD7_HUMAN			7	550	-			Error:Variant_position_missing_in_Q8N6N7_after_alignment						Missense_Mutation	SNP		37	c.241G>A																																																																																				0	0.393										30	117	0	0	0	0.007291	0	30	117		
ABI1	10006	broad.mit.edu	37	10	27112231	27112231	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:27112231T>C	ENST00000376142.2	-	2	192	c.121A>G	c.(121-123)Aca>Gca	p.T41A	ABI1_ENST00000376160.1_Missense_Mutation_p.T41A|ABI1_ENST00000490841.2_Missense_Mutation_p.T41A|ABI1_ENST00000376137.4_Missense_Mutation_p.T41A|ABI1_ENST00000376170.4_Missense_Mutation_p.T41A|ABI1_ENST00000536334.1_Missense_Mutation_p.T41A|ABI1_ENST00000376134.3_Missense_Mutation_p.T41A|ABI1_ENST00000473481.1_5'Flank|ABI1_ENST00000355394.4_Missense_Mutation_p.T41A|ABI1_ENST00000376139.2_Missense_Mutation_p.T41A|ABI1_ENST00000346832.5_Missense_Mutation_p.T58A|ABI1_ENST00000376166.1_Missense_Mutation_p.T41A|ABI1_ENST00000359188.4_Missense_Mutation_p.T41A|ABI1_ENST00000376140.3_Missense_Mutation_p.T41A|ABI1_ENST00000376138.3_Missense_Mutation_p.T41A	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	41	Required for binding to WASF1. {ECO:0000250}.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)	p.T41A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTTGTCTGTAGCCTGAAAT	0.303																																						uc001isx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(121-123)ACA>GCA		abl-interactor 1 isoform a							92.0	85.0	87.0					10																	27112231		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27112231T>C	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.121A>G	10.37:g.27112231T>C	ENSP00000365312:p.Thr41Ala					ABI1_uc001ite.2_Missense_Mutation_p.T41A|ABI1_uc010qdh.1_Missense_Mutation_p.T41A|ABI1_uc010qdi.1_Missense_Mutation_p.T41A|ABI1_uc001isy.2_Missense_Mutation_p.T41A|ABI1_uc001ita.2_Missense_Mutation_p.T41A|ABI1_uc001isz.2_Missense_Mutation_p.T41A|ABI1_uc001itb.2_Missense_Mutation_p.T58A|ABI1_uc001itc.2_Missense_Mutation_p.T41A|ABI1_uc010qdj.1_Missense_Mutation_p.T41A|ABI1_uc001itd.2_Missense_Mutation_p.T41A|ABI1_uc010qdk.1_Missense_Mutation_p.T41A	p.T41A	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			2	288	-			41			Required for binding to WASF1 (By similarity).		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.121A>G	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	T	6.202	0.405362	0.11754	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.62	0.0222	0.14132	.	0.188150	0.64402	N	0.000020	T	0.77678	0.4166	N	0.12746	0.255	0.31956	N	0.608982	B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.001;0.0;0.002;0.0;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.65973	-0.6038	10	0.07175	T	0.84	-3.3753	6.2489	0.20835	0.0:0.2587:0.3052:0.4361	.	41;41;41;41;41;66;41;58;41;41;41;41	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	A	41;41;41;41;41;41;41;41;58;41;41;41;41;41	ENSP00000365308:T41A;ENSP00000365340:T41A;ENSP00000365336:T41A;ENSP00000365330:T41A;ENSP00000365312:T41A;ENSP00000352114:T41A;ENSP00000365309:T41A;ENSP00000347555:T41A;ENSP00000279599:T58A;ENSP00000365304:T41A;ENSP00000365307:T41A;ENSP00000439646:T41A;ENSP00000440101:T41A;ENSP00000365310:T41A	ENSP00000279599:T58A	T	-	1	0	ABI1	27152237	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.453000	0.52978	0.151000	0.19162	0.533000	0.62120	ACA		0.303	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1		NM_005470		18	47	0	0	0	0.006122	0	18	47		
SYNPO2L	79933	broad.mit.edu	37	10	75406722	75406722	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:75406722C>T	ENST00000394810.2	-	4	2837	c.2688G>A	c.(2686-2688)caG>caA	p.Q896Q	SYNPO2L_ENST00000372873.4_Silent_p.Q672Q	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	896	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.Q672Q(1)|p.Q896Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTGCAGTGGGCTGGGGTGCCG	0.627																																						uc001jut.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(2686-2688)CAG>CAA		synaptopodin 2-like isoform a							43.0	46.0	45.0					10																	75406722		2203	4300	6503	SO:0001819	synonymous_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406722C>T	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2688G>A	10.37:g.75406722C>T						SYNPO2L_uc001jus.3_Silent_p.Q672Q	p.Q896Q	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	2840	-	Prostate(51;0.0112)		896			Pro-rich.		A5PKV9|Q68A20	Silent	SNP	ENST00000394810.2	37	c.2688G>A	CCDS44438.1																																																																																				0.627	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2		NM_024875		31	13	0	0	0	0.010818	0	31	13		
FAM178A	55719	broad.mit.edu	37	10	102684688	102684688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:102684688G>A	ENST00000238961.4	+	5	2472	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	FAM178A_ENST00000370269.3_Missense_Mutation_p.A644T|FAM178A_ENST00000370271.3_Missense_Mutation_p.A644T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	644						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A644T(1)									AAAGCCTCCTGCTCTTTCCAA	0.403																																						uc001krt.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1930-1932)GCT>ACT		hypothetical protein LOC55719 isoform 1							78.0	87.0	84.0					10																	102684688		2196	4286	6482	SO:0001583	missense	55719							g.chr10:102684688G>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1930G>A	10.37:g.102684688G>A	ENSP00000238961:p.Ala644Thr					FAM178A_uc001krr.1_Missense_Mutation_p.A644T|FAM178A_uc001krs.2_Missense_Mutation_p.A644T|FAM178A_uc001kru.1_Missense_Mutation_p.A579T	p.A644T	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			5	2472	+			644					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1930G>A	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714392	0.48622	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.52526	0.66;1.42;1.41	5.72	5.72	0.89469	.	0.542597	0.18180	N	0.149180	T	0.40015	0.1100	N	0.24115	0.695	0.37361	D	0.911218	P;B;B;P	0.46142	0.873;0.287;0.417;0.873	B;B;B;B	0.44044	0.23;0.085;0.085;0.439	T	0.32798	-0.9893	10	0.27082	T	0.32	-3.6217	16.5901	0.84763	0.0:0.0:1.0:0.0	.	293;644;644;644	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	T	644	ENSP00000359294:A644T;ENSP00000238961:A644T;ENSP00000359292:A644T	ENSP00000238961:A644T	A	+	1	0	FAM178A	102674678	0.378000	0.25114	0.999000	0.59377	0.991000	0.79684	2.186000	0.42593	2.693000	0.91896	0.655000	0.94253	GCT		0.403	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3				89	37	0	0	0	0.00361	0	89	37		
CNNM2	54805	broad.mit.edu	37	10	104679190	104679190	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:104679190C>T	ENST00000369878.4	+	1	1141	c.953C>T	c.(952-954)tCa>tTa	p.S318L	CNNM2_ENST00000369875.3_Missense_Mutation_p.S318L|CNNM2_ENST00000433628.2_Missense_Mutation_p.S318L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	318	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.S318L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGCTGTGCTCACTGCTGCTG	0.632																																						uc001kwm.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)	2						c.(952-954)TCA>TTA		cyclin M2 isoform 1							63.0	53.0	56.0					10																	104679190		2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679190C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.953C>T	10.37:g.104679190C>T	ENSP00000358894:p.Ser318Leu					CNNM2_uc001kwn.2_Missense_Mutation_p.S318L|CNNM2_uc001kwl.2_Missense_Mutation_p.S318L	p.S318L	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1077	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	318			DUF21.|Helical; (Potential).		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.953C>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508903	0.85282	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;D;D	0.88354	-2.37;-2.37;-2.37	4.32	4.32	0.51571	Domain of unknown function DUF21 (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.81112	2.525	0.80722	D	1	P;D;D	0.76494	0.508;0.974;0.999	B;P;D	0.72982	0.329;0.867;0.979	D	0.95351	0.8447	10	0.87932	D	0	.	16.7982	0.85608	0.0:1.0:0.0:0.0	.	318;318;318	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	L	318	ENSP00000392875:S318L;ENSP00000358891:S318L;ENSP00000358894:S318L	ENSP00000286899:S318L	S	+	2	0	CNNM2	104669180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.771000	0.85420	1.935000	0.56089	0.561000	0.74099	TCA		0.632	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3		NM_017649		15	9	0	0	0	0.003163	0	15	9		
EIF3A	8661	broad.mit.edu	37	10	120817659	120817659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:120817659G>A	ENST00000369144.3	-	12	1913	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Nonsense_Mutation_p.Q562*|SNORA19_ENST00000410656.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.Q596*(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GCTTCCCTCTGTTCCAATTCT	0.512																																						uc001ldu.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1786-1788)CAG>TAG		eukaryotic translation initiation factor 3,							88.0	79.0	82.0					10																	120817659		2203	4300	6503	SO:0001587	stop_gained	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120817659G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1786C>T	10.37:g.120817659G>A	ENSP00000358140:p.Gln596*					EIF3A_uc010qsu.1_Nonsense_Mutation_p.Q562*	p.Q596*	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	12	1932	-		Lung NSC(174;0.094)|all_lung(145;0.123)	596			Glu-rich.		B7ZBG9|Q6IBN8|Q96TD5	Nonsense_Mutation	SNP	ENST00000369144.3	37	c.1786C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	41	8.682816	0.98914	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	.	.	.	5.5	5.5	0.81552	.	0.000000	0.37623	N	0.002020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8714	19.775	0.96388	0.0:0.0:1.0:0.0	.	.	.	.	X	596;562	.	ENSP00000358140:Q596X	Q	-	1	0	EIF3A	120807649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.767000	0.98960	2.741000	0.93983	0.585000	0.79938	CAG		0.512	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1		NM_003750		33	99	0	0	0	0.012213	0	33	99		
C10orf90	118611	broad.mit.edu	37	10	128192613	128192613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:128192613C>T	ENST00000284694.7	-	3	1276	c.1156G>A	c.(1156-1158)Ggg>Agg	p.G386R	C10orf90_ENST00000392694.1_Missense_Mutation_p.G339R|C10orf90_ENST00000544758.1_Missense_Mutation_p.G483R|C10orf90_ENST00000356858.3_Missense_Mutation_p.G339R|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.G386R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	386					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.G386R(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCCTTTTCCCCTTTTCTTACA	0.502											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ljq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1156-1158)GGG>AGG		hypothetical protein LOC118611							209.0	157.0	174.0					10																	128192613		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128192613C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1156G>A	10.37:g.128192613C>T	ENSP00000284694:p.Gly386Arg		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.2_Missense_Mutation_p.G339R|C10orf90_uc010qum.1_Missense_Mutation_p.G483R|C10orf90_uc009yao.2_Missense_Mutation_p.G483R|C10orf90_uc001ljs.1_Missense_Mutation_p.G339R	p.G386R	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	1277	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	386					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1156G>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801426	0.16397	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.26660	2.04;2.05;2.06;2.05;1.72	5.09	-1.92	0.07618	.	1.037320	0.07586	N	0.921234	T	0.13543	0.0328	N	0.21448	0.665	0.09310	N	1	B;B;B;B;B	0.22003	0.01;0.029;0.063;0.01;0.01	B;B;B;B;B	0.19666	0.01;0.018;0.026;0.01;0.01	T	0.32161	-0.9917	10	0.31617	T	0.26	-2.6691	2.4226	0.04452	0.1127:0.3188:0.3333:0.2351	.	483;483;339;386;386	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	R	339;386;386;483;386;339;339	ENSP00000284694:G386R;ENSP00000398786:G386R;ENSP00000444369:G483R;ENSP00000405995:G386R;ENSP00000376459:G339R	ENSP00000284694:G386R	G	-	1	0	C10orf90	128182603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.951000	0.03885	-0.199000	0.10317	-1.067000	0.02272	GGG		0.502	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001004298		43	14	0	0	0	0.00874	0	43	14		
MGMT	4255	broad.mit.edu	37	10	131565073	131565073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:131565073C>G	ENST00000306010.7	+	5	561	c.529C>G	c.(529-531)Cac>Gac	p.H177D	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	146					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)	p.H146D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CATCCCGTGCCACAGAGTGGT	0.632								Direct reversal of damage																														uc001lkh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(529-531)CAC>GAC	Direct_reversal_of_damage	O-6-methylguanine-DNA methyltransferase							35.0	33.0	34.0					10																	131565073		2202	4300	6502	SO:0001583	missense	4255							g.chr10:131565073C>G	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.529C>G	10.37:g.131565073C>G	ENSP00000302111:p.His177Asp						p.H177D	NM_002412	NP_002403	P16455	MGMT_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	5	555	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	146					Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	c.529C>G	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323308	0.60634	.	.	ENSG00000170430	ENST00000306010	T	0.34859	1.34	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86021	0.1507	10	0.87932	D	0	.	18.4481	0.90693	0.0:1.0:0.0:0.0	.	177	B4DEE8	.	D	177	ENSP00000302111:H177D	ENSP00000302111:H177D	H	+	1	0	MGMT	131455063	1.000000	0.71417	0.872000	0.34217	0.090000	0.18270	6.497000	0.73674	2.362000	0.80069	0.563000	0.77884	CAC		0.632	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3		NM_002412		5	4	0	0	0	0.000602	0	5	4		
DPYSL4	10570	broad.mit.edu	37	10	134018389	134018389	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:134018389C>T	ENST00000338492.4	+	14	1838	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	DPYSL4_ENST00000368627.1_Silent_p.I398I|DPYSL4_ENST00000368629.1_Silent_p.I398I	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	558					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.I558I(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CACAGAAGATCATGGCACCAC	0.672																																						uc009ybb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(1672-1674)ATC>ATT		dihydropyrimidinase-like 4							168.0	159.0	162.0					10																	134018389		2203	4300	6503	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134018389C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1674C>T	10.37:g.134018389C>T							p.I558I	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	14	1828	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	558					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.1674C>T	CCDS7665.1																																																																																				0.672	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2				31	139	0	0	0	0.002836	0	31	139		
KNDC1	85442	broad.mit.edu	37	10	135011911	135011911	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:135011911C>T	ENST00000304613.3	+	13	1998	c.1977C>T	c.(1975-1977)tgC>tgT	p.C659C	KNDC1_ENST00000368572.2_Silent_p.C659C|KNDC1_ENST00000368571.2_Silent_p.C594C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	659					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.C659C(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCACCCCTGCGGTGAAGAAG	0.682																																						uc001llz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1975-1977)TGC>TGT		kinase non-catalytic C-lobe domain (KIND)							22.0	21.0	21.0					10																	135011911		2184	4293	6477	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135011911C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1977C>T	10.37:g.135011911C>T						KNDC1_uc001lma.1_Silent_p.C594C|KNDC1_uc001lmb.1_Silent_p.C71C	p.C659C	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	13	1978	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	659					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.1977C>T	CCDS7674.1																																																																																				0.682	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		NM_152643		4	5	0	0	0	0.009096	0	4	5		
OR56B4	196335	broad.mit.edu	37	11	6129404	6129404	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:6129404C>T	ENST00000316529.3	+	1	491	c.396C>T	c.(394-396)atC>atT	p.I132I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I132I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATAGCCATCTGTCGCCCTC	0.498																																						uc010qzx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(394-396)ATC>ATT		olfactory receptor, family 56, subfamily B,							144.0	128.0	133.0					11																	6129404		2201	4296	6497	SO:0001819	synonymous_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129404C>T	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.396C>T	11.37:g.6129404C>T							p.I132I	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	396	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	132			Cytoplasmic (Potential).		Q6IFD7	Silent	SNP	ENST00000316529.3	37	c.396C>T	CCDS31406.1																																																																																				0.498	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1		NM_001005181		69	25	0	0	0	0.00361	0	69	25		
PIK3C2A	5286	broad.mit.edu	37	11	17115836	17115836	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:17115836T>C	ENST00000265970.7	-	27	4422	c.4423A>G	c.(4423-4425)Att>Gtt	p.I1475V	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.I1095V|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1475	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.I1475V(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GGAAAAATAATACTGAGCTTA	0.348																																						uc001mmq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(4423-4425)ATT>GTT		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						87.0	81.0	83.0					11																	17115836		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17115836T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4423A>G	11.37:g.17115836T>C	ENSP00000265970:p.Ile1475Val					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.I1095V|PIK3C2A_uc001mmr.3_Intron	p.I1475V	NM_002645	NP_002636	O00443	P3C2A_HUMAN			27	4489	-			1475			PX.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4423A>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.576367	0.86645	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.38240	1.15;1.15	5.65	5.65	0.86999	Phox homologous domain (5);	0.251702	0.44688	D	0.000421	T	0.55417	0.1919	L	0.56769	1.78	0.80722	D	1	D	0.63880	0.993	D	0.76071	0.987	T	0.49643	-0.8918	10	0.26408	T	0.33	-19.0684	15.8773	0.79173	0.0:0.0:0.0:1.0	.	1475	O00443	P3C2A_HUMAN	V	1475;1095	ENSP00000265970:I1475V;ENSP00000438687:I1095V	ENSP00000265970:I1475V	I	-	1	0	PIK3C2A	17072412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.858000	0.86971	2.152000	0.67230	0.455000	0.32223	ATT		0.348	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645		22	9	0	0	0	0.002299	0	22	9		
MRGPRX1	259249	broad.mit.edu	37	11	18955715	18955715	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:18955715G>A	ENST00000302797.3	-	1	841	c.617C>T	c.(616-618)tCc>tTc	p.S206F	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	206					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S206F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATCTTCCGGGATCCACAGAG	0.502																																						uc001mpg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|central_nervous_system(1)	3						c.(616-618)TCC>TTC		MAS-related GPR, member X1							107.0	91.0	97.0					11																	18955715		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955715G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.617C>T	11.37:g.18955715G>A	ENSP00000305766:p.Ser206Phe						p.S206F	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	835	-			206			Cytoplasmic (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.617C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	14.86	2.661453	0.47572	.	.	ENSG00000170255	ENST00000302797	T	0.71579	-0.58	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.315746	0.27558	N	0.018840	T	0.80819	0.4696	M	0.88512	2.96	0.09310	N	1	D	0.53619	0.961	P	0.61328	0.887	T	0.69435	-0.5146	10	0.66056	D	0.02	.	4.9541	0.14031	0.1726:0.0:0.8274:0.0	.	206	Q96LB2	MRGX1_HUMAN	F	206	ENSP00000305766:S206F	ENSP00000305766:S206F	S	-	2	0	MRGPRX1	18912291	0.922000	0.31269	0.004000	0.12327	0.156000	0.22039	1.541000	0.36126	1.579000	0.49836	0.491000	0.48974	TCC		0.502	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1		NM_147199		11	52	0	0	0	0.001368	0	11	52		
CAT	847	broad.mit.edu	37	11	34489896	34489896	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:34489896T>C	ENST00000241052.4	+	11	1477	c.1388T>C	c.(1387-1389)aTt>aCt	p.I463T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	463					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I463T(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGTGAGAACATTGCCGGCCAC	0.488																																						uc001mvm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(1387-1389)ATT>ACT		catalase	Fomepizole(DB01213)						147.0	139.0	142.0					11																	34489896		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34489896T>C	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1388T>C	11.37:g.34489896T>C	ENSP00000241052:p.Ile463Thr					CAT_uc001mvn.2_Missense_Mutation_p.I72T	p.I463T	NM_001752	NP_001743	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	11	1471	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	463					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.1388T>C	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933419	0.52866	.	.	ENSG00000121691	ENST00000241052	D	0.91740	-2.9	5.59	4.47	0.54385	Catalase domain (1);Catalase-related immune responsive (1);	0.139592	0.64402	D	0.000005	D	0.91365	0.7276	L	0.59967	1.855	0.54753	D	0.999985	P	0.47191	0.891	P	0.50352	0.638	D	0.87688	0.2552	10	0.19147	T	0.46	-25.6422	10.5428	0.45043	0.0:0.0772:0.0:0.9228	.	463	P04040	CATA_HUMAN	T	463	ENSP00000241052:I463T	ENSP00000241052:I463T	I	+	2	0	CAT	34446472	1.000000	0.71417	0.770000	0.31555	0.297000	0.27493	7.472000	0.80996	0.963000	0.38082	0.454000	0.30748	ATT		0.488	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2		NM_001752		82	20	0	0	0	0.00361	0	82	20		
OR8H2	390151	broad.mit.edu	37	11	55872916	55872916	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:55872916C>A	ENST00000313503.1	+	1	398	c.398C>A	c.(397-399)aCa>aAa	p.T133K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T133K(1)		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)					CTACACTACACAGTTATTATG	0.463										HNSCC(53;0.14)																												uc010riy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(397-399)ACA>AAA		olfactory receptor, family 8, subfamily H,							202.0	187.0	192.0					11																	55872916		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872916C>A	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.398C>A	11.37:g.55872916C>A	ENSP00000323982:p.Thr133Lys	HNSCC(53;0.14)					p.T133K	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	398	+	Esophageal squamous(21;0.00693)		133			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.398C>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	8.448	0.852328	0.17106	.	.	ENSG00000181767	ENST00000313503	T	0.01359	4.98	3.58	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.686490	0.13444	N	0.387409	T	0.02304	0.0071	M	0.75615	2.305	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.34675	-0.9819	10	0.48119	T	0.1	.	5.2057	0.15289	0.1482:0.6217:0.1441:0.086	.	133	Q8N162	OR8H2_HUMAN	K	133	ENSP00000323982:T133K	ENSP00000323982:T133K	T	+	2	0	OR8H2	55629492	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.409000	0.02483	0.788000	0.33755	0.440000	0.28878	ACA		0.463	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1		NM_001005200		140	78	1	0	1.02165e-56	0.00361	1.16231e-56	140	78		
TENM4	26011	broad.mit.edu	37	11	78433795	78433795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:78433795C>T	ENST00000278550.7	-	24	4180	c.3718G>A	c.(3718-3720)Gac>Aac	p.D1240N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1240					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.D1240N(2)									AGGCTCCCGTCAGAGCCACAG	0.562																																						uc001ozl.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(2)	4						c.(3718-3720)GAC>AAC		odz, odd Oz/ten-m homolog 4							70.0	73.0	72.0					11																	78433795		1949	4160	6109	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78433795C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3718G>A	11.37:g.78433795C>T	ENSP00000278550:p.Asp1240Asn						p.D1240N	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			24	4181	-			1240			Extracellular (Potential).|NHL 1.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3718G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173524	0.94807	.	.	ENSG00000149256	ENST00000278550	D	0.91996	-2.95	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95265	0.8464	L	0.58925	1.835	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.93910	0.7196	9	.	.	.	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1240	Q6N022	TEN4_HUMAN	N	1240	ENSP00000278550:D1240N	.	D	-	1	0	ODZ4	78111443	1.000000	0.71417	0.462000	0.27118	0.668000	0.39293	7.646000	0.83445	2.937000	0.99478	0.650000	0.86243	GAC		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				24	57	0	0	0	0.00333	0	24	57		
MMP20	9313	broad.mit.edu	37	11	102495964	102495964	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:102495964G>C	ENST00000260228.2	-	1	99	c.87C>G	c.(85-87)gcC>gcG	p.A29A	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	0					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A29A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TCCTGGGGGAGGCTGCAACTA	0.537																																						uc001phc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	urinary_tract(1)|skin(1)	2						c.(85-87)GCC>GCG		matrix metalloproteinase 20 preproprotein							93.0	84.0	87.0					11																	102495964		2203	4299	6502	SO:0001819	synonymous_variant	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102495964G>C	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.87C>G	11.37:g.102495964G>C							p.A29A	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	1	100	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	29					D3DUA8|Q9H3Q0	Silent	SNP	ENST00000260228.2	37	c.87C>G	CCDS8318.1																																																																																				0.537	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1				47	20	0	0	0	0.00361	0	47	20		
DCPS	28960	broad.mit.edu	37	11	126176504	126176504	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:126176504G>A	ENST00000263579.4	+	2	570	c.241G>A	c.(241-243)Gtt>Att	p.V81I	RP11-712L6.5_ENST00000524964.1_5'Flank	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	81					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)	p.V81I(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		AGAGGATGCCGTTGTGATCCT	0.572																																						uc001qdp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(241-243)GTT>ATT		mRNA decapping enzyme							158.0	108.0	125.0					11																	126176504		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126176504G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.241G>A	11.37:g.126176504G>A	ENSP00000263579:p.Val81Ile						p.V81I	NM_014026	NP_054745	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	2	570	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	81					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.241G>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	g	5.247	0.231097	0.09969	.	.	ENSG00000110063	ENST00000263579	T	0.35789	1.29	5.54	0.156	0.14910	Scavenger mRNA decapping enzyme, N-terminal (1);	0.127854	0.52532	N	0.000076	T	0.18718	0.0449	N	0.25957	0.775	0.32365	N	0.556627	B	0.16603	0.018	B	0.15870	0.014	T	0.43081	-0.9413	10	0.02654	T	1	-20.5342	10.294	0.43613	0.3068:0.0:0.6932:0.0	.	81	Q96C86	DCPS_HUMAN	I	81	ENSP00000263579:V81I	ENSP00000263579:V81I	V	+	1	0	DCPS	125681714	0.735000	0.28153	0.258000	0.24420	0.516000	0.34256	0.881000	0.28173	-0.265000	0.09352	0.454000	0.30748	GTT		0.572	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1		NM_014026		13	6	0	0	0	0.001855	0	13	6		
NCAPD2	9918	broad.mit.edu	37	12	6623746	6623746	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:6623746A>G	ENST00000315579.5	+	8	1631	c.832A>G	c.(832-834)Att>Gtt	p.I278V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.I233V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	278	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.I278V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGTGGGAGAGATTGTAAGGTG	0.443																																						uc001qoo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(832-834)ATT>GTT		non-SMC condensin I complex, subunit D2							149.0	143.0	145.0					12																	6623746		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6623746A>G	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.832A>G	12.37:g.6623746A>G	ENSP00000325017:p.Ile278Val					NCAPD2_uc009zen.1_Missense_Mutation_p.I150V|NCAPD2_uc010sfd.1_Missense_Mutation_p.I233V	p.I278V	NM_014865	NP_055680	Q15021	CND1_HUMAN			8	878	+			278			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.832A>G	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159251	0.38119	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.12361	2.69;2.69;2.69	5.76	4.59	0.56863	Armadillo-type fold (1);	0.112567	0.64402	D	0.000010	T	0.09686	0.0238	L	0.37561	1.115	0.42780	D	0.993864	P;B;P	0.42827	0.791;0.403;0.553	B;B;B	0.36567	0.228;0.145;0.178	T	0.23404	-1.0189	10	0.30078	T	0.28	-17.6042	8.0808	0.30744	0.607:0.2738:0.0:0.1192	.	233;239;278	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	V	278;150;233;150	ENSP00000325017:I278V;ENSP00000371895:I150V;ENSP00000444417:I233V	ENSP00000325017:I278V	I	+	1	0	NCAPD2	6494007	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.997000	0.29731	0.971000	0.38288	0.533000	0.62120	ATT		0.443	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1		NM_014865		34	33	0	0	0	0.002836	0	34	33		
RECQL	5965	broad.mit.edu	37	12	21627868	21627868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:21627868C>T	ENST00000444129.2	-	11	1730	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	RECQL_ENST00000421138.2_Missense_Mutation_p.G421E	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	421	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.G421E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GAATATATCTCCAAAGCCGTA	0.373								Other identified genes with known or suspected DNA repair function																														uc001rex.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(1261-1263)GGA>GAA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							135.0	122.0	127.0					12																	21627868		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21627868C>T	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1262G>A	12.37:g.21627868C>T	ENSP00000416739:p.Gly421Glu					RECQL_uc001rey.2_Missense_Mutation_p.G421E	p.G421E	NM_032941	NP_116559	P46063	RECQ1_HUMAN			12	1610	-			421			Helicase C-terminal.		A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.1262G>A	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926912	0.73327	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.74315	-0.83;-0.83	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.324164	0.34555	N	0.003862	T	0.63462	0.2513	N	0.20845	0.615	0.44762	D	0.997766	D	0.53619	0.961	B	0.43623	0.425	T	0.61347	-0.7081	10	0.18710	T	0.47	-6.4473	18.157	0.89694	0.0:1.0:0.0:0.0	.	421	P46063	RECQ1_HUMAN	E	421	ENSP00000416739:G421E;ENSP00000395449:G421E	ENSP00000395449:G421E	G	-	2	0	RECQL	21519135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.045000	0.64220	2.733000	0.93635	0.467000	0.42956	GGA		0.373	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1		NM_002907		107	54	0	0	0	0.00361	0	107	54		
ABCC9	10060	broad.mit.edu	37	12	22005388	22005388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:22005388C>G	ENST00000261201.4	-	21	2556	c.2557G>C	c.(2557-2559)Gag>Cag	p.E853Q	ABCC9_ENST00000345162.2_Missense_Mutation_p.E817Q|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.E853Q	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	853	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|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 channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.E853Q(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAATCCCCTCCTGCATTAAA	0.408																																						uc001rfi.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.(2557-2559)GAG>CAG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119.0	111.0	114.0					12																	22005388		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22005388C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2557G>C	12.37:g.22005388C>G	ENSP00000261201:p.Glu853Gln					ABCC9_uc001rfh.2_Missense_Mutation_p.E853Q|ABCC9_uc001rfj.1_Missense_Mutation_p.E817Q	p.E853Q	NM_005691	NP_005682	O60706	ABCC9_HUMAN			21	2577	-			853			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2557G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522413	0.44866	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	4.58	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	N	0.25060	0.705	0.58432	D	0.999996	B;P	0.34615	0.049;0.459	B;B	0.34824	0.04;0.19	T	0.82065	-0.0642	10	0.23302	T	0.38	-17.9522	16.1017	0.81175	0.0:1.0:0.0:0.0	.	853;853	O60706;O60706-2	ABCC9_HUMAN;.	Q	853;480;853;817	ENSP00000261200:E853Q;ENSP00000440521:E480Q;ENSP00000261201:E853Q;ENSP00000261202:E817Q	ENSP00000261200:E853Q	E	-	1	0	ABCC9	21896655	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.628000	0.67791	2.520000	0.84964	0.650000	0.86243	GAG		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		16	205	0	0	0	0.004007	0	16	205		
DENND5B	160518	broad.mit.edu	37	12	31648850	31648850	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:31648850T>G	ENST00000389082.5	-	2	395	c.131A>C	c.(130-132)gAa>gCa	p.E44A	DENND5B_ENST00000536562.1_Missense_Mutation_p.E79A|DENND5B_ENST00000354285.4_Missense_Mutation_p.E66A|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000306833.6_Missense_Mutation_p.E79A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	44					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E44A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCAAAATTTTCGCCTACAAC	0.338																																						uc001rki.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(130-132)GAA>GCA		DENN/MADD domain containing 5B							82.0	74.0	76.0					12																	31648850		1807	4076	5883	SO:0001583	missense	160518					integral to membrane		g.chr12:31648850T>G	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.131A>C	12.37:g.31648850T>G	ENSP00000373734:p.Glu44Ala					DENND5B_uc001rkh.1_Missense_Mutation_p.E79A|DENND5B_uc001rkj.2_Missense_Mutation_p.E66A|DENND5B_uc001rkk.1_5'UTR	p.E44A	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			2	317	-			44					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.131A>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450293	0.63290	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.28454	3.61;1.61;1.61;3.09	4.24	4.24	0.50183	uDENN (2);	0.000000	0.64402	D	0.000001	T	0.42966	0.1226	L	0.38175	1.15	0.80722	D	1	D;B;P	0.63046	0.992;0.23;0.537	D;B;B	0.69824	0.966;0.186;0.343	T	0.30119	-0.9989	10	0.49607	T	0.09	-23.2075	12.7261	0.57173	0.0:0.0:0.0:1.0	.	66;44;79	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	A	44;79;79;66	ENSP00000373734:E44A;ENSP00000306482:E79A;ENSP00000444889:E79A;ENSP00000346238:E66A	ENSP00000306482:E79A	E	-	2	0	DENND5B	31540117	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.243000	0.78219	1.875000	0.54330	0.528000	0.53228	GAA		0.338	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		19	63	0	0	0	0.006122	0	19	63		
LARP4	113251	broad.mit.edu	37	12	50829280	50829280	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:50829280G>T	ENST00000398473.2	+	5	520	c.408G>T	c.(406-408)ttG>ttT	p.L136F	LARP4_ENST00000347328.5_Missense_Mutation_p.L136F|LARP4_ENST00000293618.8_Missense_Mutation_p.L136F|LARP4_ENST00000518444.1_Missense_Mutation_p.L135F|LARP4_ENST00000522085.1_Missense_Mutation_p.L136F|LARP4_ENST00000518561.1_Missense_Mutation_p.L66F|LARP4_ENST00000429001.3_Missense_Mutation_p.L142F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	136	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L136F(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAGAAAATTTGTCAAAGGATC	0.313																																						uc001rwp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(406-408)TTG>TTT		c-Mpl binding protein isoform a							70.0	60.0	63.0					12																	50829280		1796	4052	5848	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50829280G>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.408G>T	12.37:g.50829280G>T	ENSP00000381490:p.Leu136Phe					LARP4_uc001rwo.1_Missense_Mutation_p.L142F|LARP4_uc001rwq.1_Missense_Mutation_p.L136F|LARP4_uc001rwr.1_Missense_Mutation_p.L136F|LARP4_uc001rws.1_Missense_Mutation_p.L135F|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.L136F|LARP4_uc001rwn.2_Missense_Mutation_p.L66F	p.L136F	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			5	552	+			136			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.408G>T	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486491	0.63962	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000518561;ENST00000347328;ENST00000550260;ENST00000517559	T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.49	-1.01	0.10169	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.86651	2.83	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	0.97110	0.999;0.999;0.998;1.0;0.999	T	0.74861	-0.3520	10	0.72032	D	0.01	.	1.9724	0.03409	0.4706:0.1134:0.2547:0.1612	.	135;136;136;136;142	Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	F	136;142;66;136;66;136;136;135;135;66;136;134;66	ENSP00000293618:L136F;ENSP00000415464:L142F;ENSP00000446966:L66F;ENSP00000381490:L136F;ENSP00000429781:L136F;ENSP00000429077:L135F;ENSP00000447408:L135F;ENSP00000430851:L66F;ENSP00000340901:L136F;ENSP00000448756:L134F;ENSP00000428516:L66F	ENSP00000293618:L136F	L	+	3	2	LARP4	49115547	0.658000	0.27402	0.998000	0.56505	0.990000	0.78478	-0.202000	0.09451	0.089000	0.17243	0.561000	0.74099	TTG		0.313	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1		NM_052879		25	111	1	0	1.42536e-11	0.004656	1.5649e-11	25	111		
SCN8A	6334	broad.mit.edu	37	12	52164425	52164425	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:52164425G>C	ENST00000354534.6	+	19	3781	c.3603G>C	c.(3601-3603)gaG>gaC	p.E1201D	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1201D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1201					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)	p.E1201D(2)		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)	ACTGGTTTGAGACCTTCATCA	0.557																																						uc001ryw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)	7						c.(3601-3603)GAG>GAC		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						106.0	110.0	109.0					12																	52164425		2200	4300	6500	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.chr12:52164425G>C	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.3603G>C	12.37:g.52164425G>C	ENSP00000346534:p.Glu1201Asp					SCN8A_uc010snl.1_Missense_Mutation_p.E1066D	p.E1201D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	19	3781	+			1201			III.|Helical; Name=S1 of repeat III; (Potential).		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.3603G>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110459	0.77210	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.94184	-3.37;-3.37;-3.37	5.17	5.17	0.71159	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.97529	0.9191	H	0.96489	3.83	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.72625	0.978;0.973	D	0.97796	1.0241	10	0.87932	D	0	.	12.5665	0.56312	0.0757:0.0:0.9243:0.0	.	1201;1201	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	D	1201;1201;1201;1114	ENSP00000346534:E1201D;ENSP00000440360:E1201D;ENSP00000347255:E1201D	ENSP00000346534:E1201D	E	+	3	2	SCN8A	50450692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.164000	0.42387	2.861000	0.98227	0.655000	0.94253	GAG		0.557	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3		NM_014191		10	133	0	0	0	0.008291	0	10	133		
ESPL1	9700	broad.mit.edu	37	12	53677876	53677876	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:53677876G>A	ENST00000257934.4	+	17	3203	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K	ESPL1_ENST00000552462.1_Missense_Mutation_p.E1038K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1038					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.E1038K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGGCGAGCTGGAGCTGGCCCG	0.532																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|kidney(1)|skin(1)	3						c.(3112-3114)GAG>AAG		separase							242.0	224.0	230.0					12																	53677876		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53677876G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3112G>A	12.37:g.53677876G>A	ENSP00000257934:p.Glu1038Lys					ESPL1_uc001scj.2_Missense_Mutation_p.E713K|ESPL1_uc010soe.1_Missense_Mutation_p.E249K	p.E1038K	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			17	3203	+			1038						Missense_Mutation	SNP	ENST00000257934.4	37	c.3112G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609586	0.96637	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.20332	2.08;2.08	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.76002	2.32	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.44190	-0.9344	10	0.87932	D	0	.	16.535	0.84371	0.0:0.0:1.0:0.0	.	249;1038	B4DRU1;Q14674	.;ESPL1_HUMAN	K	1038;713;1038	ENSP00000257934:E1038K;ENSP00000449831:E1038K	ENSP00000257934:E1038K	E	+	1	0	ESPL1	51964143	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.041000	0.89428	2.894000	0.99253	0.655000	0.94253	GAG		0.532	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291		79	173	0	0	0	0.00361	0	79	173		
OR6C70	390327	broad.mit.edu	37	12	55863095	55863095	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:55863095A>G	ENST00000327335.4	-	1	827	c.828T>C	c.(826-828)aaT>aaC	p.N276N	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N276N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CAACTGAAGTATTGAGCACAG	0.358																																						uc010spn.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(826-828)AAT>AAC		olfactory receptor, family 6, subfamily C,							83.0	75.0	78.0					12																	55863095		2203	4300	6503	SO:0001819	synonymous_variant	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863095A>G		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.828T>C	12.37:g.55863095A>G							p.N276N	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	828	-			276			Helical; Name=7; (Potential).			Silent	SNP	ENST00000327335.4	37	c.828T>C	CCDS31825.1																																																																																				0.358	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1				16	179	0	0	0	0.003163	0	16	179		
ZFC3H1	196441	broad.mit.edu	37	12	72057170	72057170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72057170G>A	ENST00000378743.3	-	1	579	c.221C>T	c.(220-222)tCg>tTg	p.S74L	ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S74L|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S74L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	74	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S74L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACGATGACGAGGAAGAGCC	0.677											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(220-222)TCG>TTG		proline/serine-rich coiled-coil 2							46.0	55.0	52.0					12																	72057170		2009	4180	6189	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057170G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.221C>T	12.37:g.72057170G>A	ENSP00000368017:p.Ser74Leu		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_uc010sts.1_Missense_Mutation_p.S74L|ZFC3H1_uc001swp.2_Missense_Mutation_p.S74L|THAP2_uc001swq.2_5'Flank	p.S74L	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	580	-			74			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.221C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917351	0.73098	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.34667	1.35	4.36	4.36	0.52297	.	0.253304	0.27245	N	0.020249	T	0.33556	0.0867	N	0.14661	0.345	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.99	P;P;P	0.52424	0.698;0.626;0.502	T	0.17531	-1.0366	10	0.45353	T	0.12	.	15.5915	0.76534	0.0:0.0:1.0:0.0	.	74;74;74	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	L	74	ENSP00000368017:S74L	ENSP00000368017:S74L	S	-	2	0	ZFC3H1	70343437	0.151000	0.22747	0.999000	0.59377	0.992000	0.81027	1.091000	0.30915	2.427000	0.82271	0.455000	0.32223	TCG		0.677	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		NM_144982		14	289	0	0	0	0.003163	0	14	289		
TRHDE	29953	broad.mit.edu	37	12	72680477	72680477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72680477C>T	ENST00000261180.4	+	2	892	c.796C>T	c.(796-798)Cag>Tag	p.Q266*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	266					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q266*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGTGTTACTCAGTTTTCGCC	0.363																																						uc001sxa.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(796-798)CAG>TAG		thyrotropin-releasing hormone degrading enzyme							121.0	112.0	115.0					12																	72680477		2203	4300	6503	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680477C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.796C>T	12.37:g.72680477C>T	ENSP00000261180:p.Gln266*						p.Q266*	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			2	826	+			266			Extracellular (Potential).		A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.796C>T	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.468056|7.468056	0.98302|0.98302	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80347	.|0.4606	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77696	.|-0.2491	.|3	0.44086|.	T|.	0.13|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	266|31	.|.	ENSP00000261180:Q266X|.	Q|S	+|+	1|2	0|0	TRHDE|TRHDE	70966744|70966744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.363	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381		82	441	0	0	0	0.00361	0	82	441		
TRHDE	29953	broad.mit.edu	37	12	72680639	72680639	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72680639C>T	ENST00000261180.4	+	2	1054	c.958C>T	c.(958-960)Cac>Tac	p.H320Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	320					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H320Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGTTACGGATCACTTTTCACA	0.408																																						uc001sxa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(958-960)CAC>TAC		thyrotropin-releasing hormone degrading enzyme							152.0	143.0	146.0					12																	72680639		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680639C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.958C>T	12.37:g.72680639C>T	ENSP00000261180:p.His320Tyr						p.H320Y	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			2	988	+			320			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.958C>T	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.339701|3.339701	0.60963|0.60963	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.02631|.	4.22|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.050508|.	0.85682|.	D|.	0.000000|.	T|T	0.50667|0.50667	0.1629|0.1629	N|N	0.11364|0.11364	0.135|0.135	0.80722|0.80722	D|D	1|1	D|.	0.54964|.	0.969|.	P|.	0.52454|.	0.699|.	T|T	0.42413|0.42413	-0.9453|-0.9453	10|5	0.13108|.	T|.	0.6|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320|.	Q9UKU6|.	TRHDE_HUMAN|.	Y|L	320|85	ENSP00000261180:H320Y|.	ENSP00000261180:H320Y|.	H|S	+|+	1|2	0|0	TRHDE|TRHDE	70966906|70966906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.408	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381		127	531	0	0	0	0.00361	0	127	531		
TMPO	7112	broad.mit.edu	37	12	98925604	98925604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:98925604G>C	ENST00000556029.1	+	3	909	c.553G>C	c.(553-555)Gac>Cac	p.D185H	TMPO_ENST00000343315.5_Missense_Mutation_p.D185H|TMPO_ENST00000261210.5_Missense_Mutation_p.D185H|TMPO_ENST00000266732.4_Missense_Mutation_p.D185H|TMPO_ENST00000393053.2_Missense_Mutation_p.D185H	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	185	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.D185H(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGATACAGTGACAATGAAGA	0.313																																						uc001tfj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(553-555)GAC>CAC		thymopoietin isoform beta							58.0	59.0	59.0					12																	98925604		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98925604G>C		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.553G>C	12.37:g.98925604G>C	ENSP00000450627:p.Asp185His					TMPO_uc001tfi.1_Missense_Mutation_p.D185H|TMPO_uc001tfk.2_Missense_Mutation_p.D185H|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.D185H	p.D185H	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN			3	790	+			185			Nucleoplasmic (Potential).|NAKAP95-binding N.		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.553G>C	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462460	0.84425	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000266732;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T;T	0.79033	-0.34;-0.05;0.94;-0.7;-1.23;-0.95	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.86760	0.6010	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	D	0.87733	0.2580	10	0.87932	D	0	.	18.779	0.91924	0.0:0.0:1.0:0.0	.	218;185;185;185	Q59G12;P42167;A2T926;P42166	.;LAP2B_HUMAN;.;LAP2A_HUMAN	H	185;185;185;185;185;92	ENSP00000450627:D185H;ENSP00000340251:D185H;ENSP00000266732:D185H;ENSP00000376773:D185H;ENSP00000261210:D185H;ENSP00000451552:D92H	ENSP00000261210:D185H	D	+	1	0	TMPO	97449735	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.339000	0.90041	2.523000	0.85059	0.655000	0.94253	GAC		0.313	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2		NM_003276		29	35	0	0	0	0.009535	0	29	35		
NUAK1	9891	broad.mit.edu	37	12	106500253	106500253	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:106500253C>A	ENST00000261402.2	-	2	1670	c.291G>T	c.(289-291)atG>atT	p.M97I	RP11-114F10.3_ENST00000548901.1_RNA	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.M97I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGATGTGAACCATGTCTTGTT	0.343																																						uc001tlj.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)	2						c.(289-291)ATG>ATT		AMPK-related protein kinase 5							195.0	161.0	172.0					12																	106500253		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106500253C>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.291G>T	12.37:g.106500253C>A	ENSP00000261402:p.Met97Ile						p.M97I	NM_014840	NP_055655	O60285	NUAK1_HUMAN			2	1671	-			97			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.291G>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580152	0.86645	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.63913	-0.07	6.07	5.16	0.70880	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	0.64402	D	0.000001	T	0.61615	0.2361	N	0.16368	0.405	0.80722	D	1	P	0.42248	0.774	P	0.52031	0.688	T	0.67138	-0.5746	10	0.62326	D	0.03	.	17.2084	0.86924	0.0:0.874:0.126:0.0	.	97	O60285	NUAK1_HUMAN	I	97	ENSP00000261402:M97I	ENSP00000261402:M97I	M	-	3	0	NUAK1	105024383	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.946000	0.56644	1.541000	0.49316	0.650000	0.86243	ATG		0.343	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2		NM_014840		25	5	1	0	0.000375601	0.00278	0.000386684	25	5		
CUX2	23316	broad.mit.edu	37	12	111758093	111758093	+	Silent	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:111758093G>T	ENST00000261726.6	+	17	2434	c.2280G>T	c.(2278-2280)ccG>ccT	p.P760P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	760					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.P760P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGCCGCTCCCGGTCCTGTCCC	0.736																																						uc001tsa.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(2)|breast(1)	6						c.(2278-2280)CCG>CCT		cut-like 2							10.0	13.0	12.0					12																	111758093		1643	3756	5399	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758093G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2280G>T	12.37:g.111758093G>T							p.P760P	NM_015267	NP_056082	O14529	CUX2_HUMAN			17	2433	+			760					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.2280G>T	CCDS41837.1																																																																																				0.736	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1		NM_015267		11	16	1	0	1.58986e-06	0.008291	1.66962e-06	11	16		
HPD	3242	broad.mit.edu	37	12	122281692	122281692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:122281692G>A	ENST00000289004.4	-	12	913	c.878C>T	c.(877-879)tCc>tTc	p.S293F	HPD_ENST00000543163.1_Missense_Mutation_p.S254F	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	293					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)	p.S293F(1)		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)	GTAGTACGTGGAGGGAACAGA	0.542																																						uc001ubj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(877-879)TCC>TTC		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						149.0	131.0	137.0					12																	122281692		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122281692G>A	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.878C>T	12.37:g.122281692G>A	ENSP00000289004:p.Ser293Phe					HPD_uc001ubk.2_Missense_Mutation_p.S254F	p.S293F	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	918	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		293					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.878C>T	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263512	0.23136	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.70516	-0.49;-0.49	4.32	4.32	0.51571	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.293478	0.37715	N	0.001980	T	0.69708	0.3141	M	0.64997	1.995	0.58432	D	0.999999	B	0.17852	0.024	B	0.19391	0.025	T	0.70999	-0.4719	10	0.66056	D	0.02	-8.8135	16.6273	0.84975	0.0:0.0:1.0:0.0	.	293	P32754	HPPD_HUMAN	F	293;290;254	ENSP00000289004:S293F;ENSP00000441677:S254F	ENSP00000289004:S293F	S	-	2	0	HPD	120766075	1.000000	0.71417	0.004000	0.12327	0.283000	0.27025	5.870000	0.69620	2.249000	0.74217	0.511000	0.50034	TCC		0.542	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1		NM_002150		22	29	0	0	0	0.012319	0	22	29		
RIMBP2	23504	broad.mit.edu	37	12	130912840	130912840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:130912840G>A	ENST00000261655.4	-	12	2408	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	749					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R749W(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGACCCCCGGCTGCTCTCT	0.617																																						uc001uil.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2245-2247)CGG>TGG		RIM-binding protein 2							80.0	69.0	73.0					12																	130912840		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130912840G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2245C>T	12.37:g.130912840G>A	ENSP00000261655:p.Arg749Trp						p.R749W	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	12	2409	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	749					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2245C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174076	0.78452	.	.	ENSG00000060709	ENST00000261655	T	0.26067	1.76	4.96	4.01	0.46588	.	0.000000	0.64402	D	0.000001	T	0.47414	0.1444	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49153	-0.8969	10	0.72032	D	0.01	-31.0483	12.741	0.57253	0.0:0.0:0.6349:0.3651	.	749	O15034	RIMB2_HUMAN	W	749	ENSP00000261655:R749W	ENSP00000261655:R749W	R	-	1	2	RIMBP2	129478793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.707000	0.47143	2.306000	0.77630	0.561000	0.74099	CGG		0.617	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1		NM_015347		14	45	0	0	0	0.004007	0	14	45		
PCDH9	5101	broad.mit.edu	37	13	67802415	67802415	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr13:67802415T>C	ENST00000377865.2	-	1	292	c.158A>G	c.(157-159)aAt>aGt	p.N53S	PCDH9_ENST00000377861.3_Missense_Mutation_p.N53S|PCDH9_ENST00000544246.1_Missense_Mutation_p.N53S|PCDH9_ENST00000328454.5_Missense_Mutation_p.N53S|PCDH9_ENST00000456367.1_Missense_Mutation_p.N53S			Q9HC56	PCDH9_HUMAN	protocadherin 9	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N53S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTGGCAGCATTGATGTGAGA	0.458																																						uc001vik.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(157-159)AAT>AGT		protocadherin 9 isoform 1 precursor							93.0	90.0	91.0					13																	67802415		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802415T>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.158A>G	13.37:g.67802415T>C	ENSP00000367096:p.Asn53Ser					PCDH9_uc001vil.2_Missense_Mutation_p.N53S|PCDH9_uc010thl.1_Missense_Mutation_p.N53S|PCDH9_uc001vin.3_Missense_Mutation_p.N53S	p.N53S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	850	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	53			Extracellular (Potential).|Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.158A>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	0.407	-0.915409	0.02415	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.82	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (3);	0.085998	0.85682	D	0.000000	T	0.12475	0.0303	L	0.29908	0.895	0.48696	D	0.999699	B;B;B;B	0.25105	0.025;0.025;0.097;0.118	B;B;B;B	0.29353	0.03;0.03;0.061;0.101	T	0.10177	-1.0641	10	0.13470	T	0.59	.	10.4068	0.44266	0.0:0.1356:0.0:0.8644	.	53;53;53;53	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	53	ENSP00000442186:N53S;ENSP00000367096:N53S;ENSP00000401699:N53S;ENSP00000332060:N53S;ENSP00000367092:N53S	ENSP00000332060:N53S	N	-	2	0	PCDH9	66700416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.431000	0.52814	1.038000	0.40049	-0.256000	0.11100	AAT		0.458	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487		24	12	0	0	0	0.003954	0	24	12		
IPO4	79711	broad.mit.edu	37	14	24648917	24648917	+	IGR	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:24648917T>G	ENST00000354464.6	-	0	3646				REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Missense_Mutation_p.L478R|REC8_ENST00000311457.3_Missense_Mutation_p.L478R	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.L478R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTGCTCTCACTGGAAGCAGTG	0.612																																						uc001wmr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1435-1437)CTG>CGG		REC8 homolog							68.0	76.0	73.0					14																	24648917		2071	4196	6267	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648917T>G	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648917T>G						REC8_uc001wms.2_Missense_Mutation_p.L479R	p.L479R	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	19	1863	+			479			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.1436T>G	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746809	0.30955	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.77358	-1.09	5.53	-1.33	0.09172	.	1.095010	0.07010	N	0.824992	T	0.60805	0.2297	L	0.29908	0.895	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.16289	0.015;0.007	T	0.39702	-0.9601	10	0.15499	T	0.54	-0.5449	5.0922	0.14713	0.0:0.4203:0.1804:0.3993	.	462;479	O95072-2;O95072	.;REC8_HUMAN	R	478;461	ENSP00000308699:L478R	ENSP00000308699:L478R	L	+	2	0	REC8	23718757	0.012000	0.17670	0.312000	0.25196	0.140000	0.21249	-0.177000	0.09796	0.085000	0.17107	0.374000	0.22700	CTG		0.612	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658		26	48	0	0	0	0.003954	0	26	48		
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	C	T	rs533433194		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532																																						uc001wpq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(271-273)GCG>GCA		cathepsin G preproprotein							211.0	169.0	183.0					14																	25043947		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043947C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.273G>A	14.37:g.25043947C>T							p.A91A	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	310	-			91			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.273G>A	CCDS9631.1																																																																																				0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2		NM_001911		25	69	0	0	0	0.003954	0	25	69		
TRIM9	114088	broad.mit.edu	37	14	51561002	51561002	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:51561002C>T	ENST00000298355.3	-	1	1777	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	TRIM9_ENST00000360392.4_Missense_Mutation_p.R219Q|TRIM9_ENST00000338969.5_Missense_Mutation_p.R219Q|RP11-1140I5.1_ENST00000554475.1_RNA	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	219					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R219Q(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTCAGCCTCCGGCTCACACG	0.672																																						uc001wyx.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|lung(1)	3						c.(655-657)CGG>CAG		tripartite motif protein 9 isoform 1							48.0	40.0	42.0					14																	51561002		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51561002C>T	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.656G>A	14.37:g.51561002C>T	ENSP00000298355:p.Arg219Gln					TRIM9_uc001wyy.2_Missense_Mutation_p.R219Q|TRIM9_uc001wyz.3_Missense_Mutation_p.R219Q	p.R219Q	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			1	1421	-	all_epithelial(31;0.00418)|Breast(41;0.148)		219					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.656G>A	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629000	0.67015	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.70516	-0.37;-0.49;0.56	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	N	0.14661	0.345	0.54753	D	0.999984	D;B;P	0.60160	0.987;0.257;0.811	P;B;B	0.51615	0.675;0.052;0.142	T	0.66830	-0.5824	10	0.38643	T	0.18	.	15.7714	0.78173	0.0:1.0:0.0:0.0	.	219;219;219	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	Q	219	ENSP00000298355:R219Q;ENSP00000342970:R219Q;ENSP00000353561:R219Q	ENSP00000298355:R219Q	R	-	2	0	TRIM9	50630752	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	5.872000	0.69636	2.301000	0.77427	0.561000	0.74099	CGG		0.672	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1		NM_015163		8	22	0	0	0	0.00308	0	8	22		
PLEKHG3	26030	broad.mit.edu	37	14	65197535	65197535	+	Silent	SNP	G	G	T	rs144144480		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:65197535G>T	ENST00000394691.1	+	6	732	c.585G>T	c.(583-585)acG>acT	p.T195T	PLEKHG3_ENST00000247226.7_Silent_p.T139T			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	195	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T139T(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCGCCCTGACGGAATGCATGC	0.642																																						uc001xho.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(583-585)ACG>ACT		pleckstrin homology domain containing, family G,							39.0	41.0	40.0					14																	65197535		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197535G>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.585G>T	14.37:g.65197535G>T						PLEKHG3_uc001xhn.1_Silent_p.T139T|PLEKHG3_uc001xhp.2_Silent_p.T195T|PLEKHG3_uc010aqh.1_5'UTR	p.T195T	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	6	854	+			195			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.585G>T																																																																																					0.642	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1		NM_015549		13	15	1	0	4.93089e-13	0.00245	5.47102e-13	13	15		
ZFP36L1	677	broad.mit.edu	37	14	69262557	69262557	+	5'Flank	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:69262557G>C	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000408913.2_Missense_Mutation_p.S152W|ZFP36L1_ENST00000336440.3_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S152W(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGAGGGAGCGAGTCCCTTAA	0.617																																						uc001xkj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(454-456)TCG>TGG		hypothetical protein LOC400223							37.0	45.0	43.0					14																	69262557		2189	4251	6440	SO:0001631	upstream_gene_variant	400223							g.chr14:69262557G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262557G>C	Exception_encountered					ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	p.S152W	NM_207442	NP_997325				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)	1	634	-								Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.455C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	3.056	-0.194332	0.06259	.	.	ENSG00000185650	ENST00000408913	.	.	.	3.48	-2.37	0.06643	.	.	.	.	.	T	0.37571	0.1008	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43556	-0.9384	5	0.87932	D	0	.	5.8255	0.18550	0.3608:0.2594:0.3799:0.0	.	.	.	.	W	152	.	ENSP00000386220:S152W	S	-	2	0	ZFP36L1	68332310	0.183000	0.23186	0.035000	0.18076	0.050000	0.14768	-0.721000	0.04963	-0.732000	0.04856	-1.786000	0.00637	TCG		0.617	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				27	31	0	0	0	0.00874	0	27	31		
CCDC176	80127	broad.mit.edu	37	14	74489638	74489638	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:74489638G>A	ENST00000394009.3	+	2	199	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	26					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E26K(1)									AAAAACAGATGAATCTGTGGT	0.388																																						uc010tup.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(76-78)GAA>AAA		hypothetical protein LOC80127							36.0	33.0	34.0					14																	74489638		1568	3582	5150	SO:0001583	missense	80127							g.chr14:74489638G>A	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.76G>A	14.37:g.74489638G>A	ENSP00000377577:p.Glu26Lys						p.E26K	NM_025057	NP_079333	Q8ND07	CN045_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00351)	2	199	+			26					Q0P604|Q9H5P8	Missense_Mutation	SNP	ENST00000394009.3	37	c.76G>A	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164943	0.78339	.	.	ENSG00000119636	ENST00000394009	T	0.22539	1.95	4.75	4.75	0.60458	.	0.082111	0.46758	U	0.000268	T	0.15782	0.0380	N	0.08118	0	0.80722	D	1	P	0.49961	0.93	P	0.47915	0.561	T	0.07849	-1.0751	10	0.35671	T	0.21	-1.7674	14.7617	0.69610	0.0:0.0:1.0:0.0	.	26	Q8ND07	CN045_HUMAN	K	26	ENSP00000377577:E26K	ENSP00000377577:E26K	E	+	1	0	C14orf45	73559391	1.000000	0.71417	0.229000	0.23960	0.190000	0.23558	6.561000	0.73955	2.458000	0.83093	0.484000	0.47621	GAA		0.388	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1		NM_025057		8	16	0	0	0	0.00308	0	8	16		
HERC2	8924	broad.mit.edu	37	15	28467360	28467360	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:28467360G>A	ENST00000261609.7	-	36	5574	c.5466C>T	c.(5464-5466)ggC>ggT	p.G1822G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G1822G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACAACTGGGGCCTGATGGAG	0.443																																						uc001zbj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5464-5466)GGC>GGT		hect domain and RLD 2							50.0	44.0	46.0					15																	28467360		2057	3897	5954	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28467360G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5465-1C>T	15.37:g.28467360G>A							p.G1822G	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	36	5572	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1822						Silent	SNP	ENST00000261609.7	37	c.5466C>T	CCDS10021.1																																																																																				0.443	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667	Silent	16	29	0	0	0	0.004007	0	16	29		
FBN1	2200	broad.mit.edu	37	15	48752456	48752456	+	Silent	SNP	G	G	C	rs373887214		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:48752456G>C	ENST00000316623.5	-	43	5738	c.5283C>G	c.(5281-5283)acC>acG	p.T1761T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1761					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)	p.T1761T(1)		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)		CGGGTAAACCGGTATAAATGT	0.418																																						uc001zwx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(5281-5283)ACC>ACG		fibrillin 1 precursor							92.0	80.0	84.0					15																	48752456		2198	4296	6494	SO:0001819	synonymous_variant	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.chr15:48752456G>C	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.5283C>G	15.37:g.48752456G>C						FBN1_uc010beo.1_RNA	p.T1761T	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	43	5611	-		all_lung(180;0.00279)	1761					B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.5283C>G	CCDS32232.1																																																																																				0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				15	21	0	0	0	0.00499	0	15	21		
FBN1	2200	broad.mit.edu	37	15	48787780	48787780	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:48787780C>T	ENST00000316623.5	-	21	2880	c.2425G>A	c.(2425-2427)Gat>Aat	p.D809N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	809	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	p.D809N(1)		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)		TCGCATTCATCAATGTCTGAA	0.378																																						uc001zwx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(2425-2427)GAT>AAT		fibrillin 1 precursor							162.0	175.0	170.0					15																	48787780		2197	4296	6493	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.chr15:48787780C>T	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.2425G>A	15.37:g.48787780C>T	ENSP00000325527:p.Asp809Asn						p.D809N	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	21	2753	-		all_lung(180;0.00279)	809			EGF-like 13; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2425G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851462	0.32699	.	.	ENSG00000166147	ENST00000316623	D	0.86956	-2.19	5.87	4.94	0.65067	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.143020	0.64402	D	0.000008	T	0.74298	0.3698	N	0.17474	0.49	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67154	-0.5742	10	0.02654	T	1	.	14.0517	0.64742	0.0:0.9257:0.0:0.0742	.	809	P35555	FBN1_HUMAN	N	809	ENSP00000325527:D809N	ENSP00000325527:D809N	D	-	1	0	FBN1	46575072	0.623000	0.27094	1.000000	0.80357	0.907000	0.53573	1.208000	0.32345	2.777000	0.95525	0.555000	0.69702	GAT		0.378	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				64	99	0	0	0	0.00361	0	64	99		
SECISBP2L	9728	broad.mit.edu	37	15	49309824	49309824	+	Splice_Site	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:49309824T>A	ENST00000559471.1	-	9	1435	c.1172A>T	c.(1171-1173)gAt>gTt	p.D391V	SECISBP2L_ENST00000261847.3_Splice_Site_p.D346V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	391							poly(A) RNA binding (GO:0044822)	p.D346V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCCATCTTCATCCTGAAATGT	0.284																																						uc001zxe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|skin(1)	2						c.(1171-1173)GAT>GTT		SECIS binding protein 2-like							73.0	70.0	71.0					15																	49309824		2195	4288	6483	SO:0001630	splice_region_variant	9728							g.chr15:49309824T>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1171-1A>T	15.37:g.49309824T>A						SECISBP2L_uc001zxd.1_Missense_Mutation_p.D346V|SECISBP2L_uc010bep.1_Missense_Mutation_p.D153V|SECISBP2L_uc010beq.1_Missense_Mutation_p.D263V	p.D391V	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			9	1306	-			391					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.1172A>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282174	0.59867	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89196	-2.48	5.39	4.26	0.50523	.	0.140095	0.64402	D	0.000005	D	0.89736	0.6801	L	0.59436	1.845	0.80722	D	1	D;D	0.56746	0.961;0.977	P;P	0.53593	0.541;0.73	D	0.89211	0.3564	10	0.87932	D	0	.	9.2996	0.37838	0.0:0.0818:0.0:0.9182	.	391;346	Q93073;Q93073-2	SBP2L_HUMAN;.	V	346;391	ENSP00000261847:D346V	ENSP00000261847:D346V	D	-	2	0	SECISBP2L	47097116	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.631000	0.61304	0.979000	0.38497	0.533000	0.62120	GAT		0.284	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1		NM_014701	Missense_Mutation	5	18	0	0	0	0.000602	0	5	18		
DPP8	54878	broad.mit.edu	37	15	65790284	65790284	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:65790284C>G	ENST00000341861.5	-	5	2261	c.681G>C	c.(679-681)tgG>tgC	p.W227C	DPP8_ENST00000321118.7_Missense_Mutation_p.W227C|DPP8_ENST00000321147.6_Missense_Mutation_p.W227C|DPP8_ENST00000358939.4_Missense_Mutation_p.W211C|DPP8_ENST00000339244.5_Missense_Mutation_p.W227C|DPP8_ENST00000559233.1_Missense_Mutation_p.W227C|DPP8_ENST00000300141.6_Missense_Mutation_p.W211C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	227					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.W211C(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAAAGCAATCCAGTCTGGAT	0.403																																						uc002aov.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(679-681)TGG>TGC		dipeptidyl peptidase 8 isoform 1							174.0	143.0	154.0					15																	65790284		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65790284C>G	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.681G>C	15.37:g.65790284C>G	ENSP00000339208:p.Trp227Cys					DPP8_uc002aow.2_Missense_Mutation_p.W227C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.W211C|DPP8_uc002aoy.2_Missense_Mutation_p.W227C|DPP8_uc002aoz.2_Missense_Mutation_p.W211C|DPP8_uc010bhj.2_Missense_Mutation_p.W227C|DPP8_uc002apa.2_Missense_Mutation_p.W124C	p.W227C	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			5	2259	-			227					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.681G>C	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641631	0.67244	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.13	5.13	0.70059	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.47248	0.1435	L	0.40543	1.245	0.43719	D	0.996197	B;D;B;B	0.71674	0.065;0.998;0.139;0.08	B;D;B;B	0.64776	0.039;0.929;0.064;0.065	T	0.47711	-0.9096	10	0.72032	D	0.01	0.6438	18.5836	0.91181	0.0:1.0:0.0:0.0	.	211;211;227;227	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	C	227;211;211;227;227;227;227	ENSP00000339208:W227C;ENSP00000351817:W211C;ENSP00000300141:W211C;ENSP00000318111:W227C;ENSP00000316373:W227C;ENSP00000341230:W227C;ENSP00000379013:W227C	ENSP00000300141:W211C	W	-	3	0	DPP8	63577337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.746000	0.47467	2.355000	0.79922	0.655000	0.94253	TGG		0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1		NM_017743		33	34	0	0	0	0.010818	0	33	34		
MYO9A	4649	broad.mit.edu	37	15	72193566	72193566	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:72193566A>G	ENST00000356056.5	-	23	3588	c.3116T>C	c.(3115-3117)tTc>tCc	p.F1039S	MYO9A_ENST00000444904.1_Missense_Mutation_p.F1020S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1039S|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1039S|MYO9A_ENST00000566885.1_Missense_Mutation_p.F659S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1039	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.F1039S(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGATGGAGGAAATGCTGCCT	0.443																																						uc002atl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3115-3117)TTC>TCC		myosin IXA							125.0	104.0	111.0					15																	72193566		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72193566A>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3116T>C	15.37:g.72193566A>G	ENSP00000348349:p.Phe1039Ser					MYO9A_uc010biq.2_Missense_Mutation_p.F659S|MYO9A_uc002atn.1_Missense_Mutation_p.F1020S|MYO9A_uc002atk.2_5'Flank|MYO9A_uc002atm.1_5'Flank	p.F1039S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			23	3589	-			1039			IQ 1.|Neck or regulatory domain.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3116T>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	33	5.217141	0.95104	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.74002	-0.8;-0.8;-0.8	6.07	6.07	0.98685	.	.	.	.	.	D	0.89615	0.6766	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.994;0.978	D	0.91884	0.5518	9	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1020;1020;1039	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	S	1039;1039;1020;1020	ENSP00000348349:F1039S;ENSP00000399162:F1039S;ENSP00000398250:F1020S	ENSP00000261864:F1020S	F	-	2	0	MYO9A	69980620	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	8.930000	0.92872	2.326000	0.78906	0.533000	0.62120	TTC		0.443	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901		21	26	0	0	0	0.010504	0	21	26		
PML	5371	broad.mit.edu	37	15	74315653	74315653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:74315653G>A	ENST00000268058.3	+	3	1183	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	PML_ENST00000569161.1_3'UTR|PML_ENST00000268059.6_Missense_Mutation_p.E363K|PML_ENST00000565898.1_Missense_Mutation_p.E363K|PML_ENST00000567543.1_Missense_Mutation_p.E363K|PML_ENST00000569965.1_Missense_Mutation_p.E363K|PML_ENST00000569477.1_Missense_Mutation_p.E363K|PML_ENST00000395132.2_Missense_Mutation_p.E363K|PML_ENST00000563500.1_Missense_Mutation_p.E363K|PML_ENST00000359928.4_Missense_Mutation_p.E363K|PML_ENST00000395135.3_Missense_Mutation_p.E363K|PML_ENST00000564428.1_Missense_Mutation_p.E363K|PML_ENST00000436891.3_Missense_Mutation_p.E363K|PML_ENST00000354026.6_Missense_Mutation_p.E363K|PML_ENST00000435786.2_Missense_Mutation_p.E363K	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	363					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E363K(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCCAGGAGGAGCCCCAGAG	0.652			T	"""RARA, PAX5"""	"""APL, ALL"""																																	uc002awv.2		NaN		Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(2)|kidney(2)|breast(1)	5						c.(1087-1089)GAG>AAG		promyelocytic leukemia protein isoform 1							25.0	27.0	27.0					15																	74315653		2188	4279	6467	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74315653G>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1087G>A	15.37:g.74315653G>A	ENSP00000268058:p.Glu363Lys					PML_uc002awm.2_Missense_Mutation_p.E363K|PML_uc002awl.2_Missense_Mutation_p.E363K|PML_uc002awj.1_Missense_Mutation_p.E363K|PML_uc002awk.2_Missense_Mutation_p.E363K|PML_uc002awn.2_Missense_Mutation_p.E363K|PML_uc002awo.2_Missense_Mutation_p.E363K|PML_uc002awp.2_Missense_Mutation_p.E363K|PML_uc002awq.2_Missense_Mutation_p.E363K|PML_uc002awr.2_Missense_Mutation_p.E363K|PML_uc002aws.2_Missense_Mutation_p.E363K|PML_uc002awt.2_Missense_Mutation_p.E363K|PML_uc002awu.2_Missense_Mutation_p.E363K|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.E278K|PML_uc002awx.2_Missense_Mutation_p.E121K|PML_uc002awy.2_5'Flank	p.E363K	NM_033238	NP_150241	P29590	PML_HUMAN			3	1227	+			363					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1087G>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730499	0.30684	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.43688	0.94	5.06	2.78	0.32641	.	0.806970	0.10987	N	0.612077	T	0.36358	0.0964	L	0.51422	1.61	0.33532	D	0.593754	B;B;P;P;P;P;P;P;P;B;B;B;P	0.40731	0.095;0.279;0.716;0.48;0.48;0.532;0.476;0.48;0.669;0.259;0.42;0.095;0.728	B;B;B;B;B;B;B;B;B;B;B;B;B	0.39590	0.047;0.127;0.268;0.13;0.09;0.19;0.145;0.184;0.122;0.041;0.09;0.069;0.304	T	0.46005	-0.9222	10	0.31617	T	0.26	-24.3004	8.6812	0.34209	0.0977:0.1584:0.744:0.0	.	363;313;363;363;363;363;363;363;363;363;363;363;366	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	K	363	ENSP00000268058:E363K	ENSP00000268058:E363K	E	+	1	0	PML	72102706	1.000000	0.71417	0.997000	0.53966	0.088000	0.18126	0.367000	0.20382	1.104000	0.41587	0.462000	0.41574	GAG		0.652	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3		NM_002675		9	20	0	0	0	0.004007	0	9	20		
SCAPER	49855	broad.mit.edu	37	15	76994116	76994116	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:76994116G>A	ENST00000563290.1	-	20	2586	c.2491C>T	c.(2491-2493)Ctg>Ttg	p.L831L	SCAPER_ENST00000538941.2_Silent_p.L585L|SCAPER_ENST00000324767.7_Silent_p.L831L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	831						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L831L(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCATCTGACAGTTCACGCCCC	0.373																																						uc002bby.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(2491-2493)CTG>TTG		S-phase cyclin A-associated protein in the ER							101.0	101.0	101.0					15																	76994116		1872	4118	5990	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76994116G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2491C>T	15.37:g.76994116G>A						SCAPER_uc010bkr.2_Silent_p.L139L|SCAPER_uc002bbx.2_Silent_p.L585L|SCAPER_uc002bbz.1_Silent_p.L702L|SCAPER_uc002bca.1_Silent_p.L696L	p.L831L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			19	2550	-			830					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.2491C>T	CCDS53962.1																																																																																				0.373	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		33	21	0	0	0	0.003755	0	33	21		
MORF4L1	10933	broad.mit.edu	37	15	79187188	79187188	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:79187188A>T	ENST00000331268.5	+	12	1150	c.946A>T	c.(946-948)Aca>Tca	p.T316S	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558502.1_Missense_Mutation_p.T189S|MORF4L1_ENST00000379535.4_Missense_Mutation_p.T302S|MORF4L1_ENST00000426013.2_Missense_Mutation_p.T277S|MORF4L1_ENST00000558746.1_Missense_Mutation_p.T250S|MORF4L1_ENST00000559345.1_Missense_Mutation_p.T189S	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	316	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.T316S(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GTTGGCTTATACACCTCTGGA	0.343																																						uc002bel.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(946-948)ACA>TCA		MORF-related gene 15 isoform 2							148.0	132.0	138.0					15																	79187188		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79187188A>T	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.946A>T	15.37:g.79187188A>T	ENSP00000331310:p.Thr316Ser					MORF4L1_uc002bem.2_Missense_Mutation_p.T277S|MORF4L1_uc010une.1_Missense_Mutation_p.T189S	p.T316S	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN			12	1134	+			316			Sufficient for interaction with PHF12.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.946A>T	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448773	0.63178	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.10288	2.89;2.89;2.89	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	L	0.41573	1.285	0.58432	D	0.999998	B;B	0.22746	0.062;0.074	B;B	0.31614	0.07;0.133	T	0.10474	-1.0628	10	0.30078	T	0.28	-30.767	13.7992	0.63190	1.0:0.0:0.0:0.0	.	277;316	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	S	302;277;316	ENSP00000368850:T302S;ENSP00000408880:T277S;ENSP00000331310:T316S	ENSP00000331310:T316S	T	+	1	0	MORF4L1	76974243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.659000	0.91116	2.006000	0.58801	0.528000	0.53228	ACA		0.343	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4		NM_006791		36	43	0	0	0	0.003755	0	36	43		
ANPEP	290	broad.mit.edu	37	15	90348650	90348650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:90348650G>A	ENST00000300060.6	-	3	972	c.659C>T	c.(658-660)tCc>tTc	p.S220F	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	220	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.S220F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCATGGGAAGGACTTCCGGGC	0.602																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(658-660)TCC>TTC		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						114.0	105.0	108.0					15																	90348650		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348650G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.659C>T	15.37:g.90348650G>A	ENSP00000300060:p.Ser220Phe						p.S220F	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		3	951	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		220			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.659C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222681	0.58668	.	.	ENSG00000166825	ENST00000300060	T	0.04015	3.73	4.62	4.62	0.57501	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.107802	0.64402	D	0.000008	T	0.14184	0.0343	L	0.42686	1.345	0.48762	D	0.999703	D	0.59767	0.986	D	0.66497	0.944	T	0.00752	-1.1581	10	0.87932	D	0	.	14.9455	0.71026	0.0:0.0:1.0:0.0	.	220	P15144	AMPN_HUMAN	F	220	ENSP00000300060:S220F	ENSP00000300060:S220F	S	-	2	0	ANPEP	88149654	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	4.744000	0.62118	2.121000	0.65114	0.462000	0.41574	TCC		0.602	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1				20	14	0	0	0	0.010504	0	20	14		
ZNF710	374655	broad.mit.edu	37	15	90611334	90611334	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:90611334C>A	ENST00000268154.4	+	2	1216	c.965C>A	c.(964-966)cCa>cAa	p.P322Q		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P322Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGCATCAAGCCACACTCGTGC	0.637																																						uc002bov.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(964-966)CCA>CAA		zinc finger protein 710							92.0	76.0	82.0					15																	90611334		2200	4298	6498	SO:0001583	missense	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611334C>A	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.965C>A	15.37:g.90611334C>A	ENSP00000268154:p.Pro322Gln						p.P322Q	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1088	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		322					A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	c.965C>A	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192835	0.78902	.	.	ENSG00000140548	ENST00000268154	T	0.28454	1.61	5.32	5.32	0.75619	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.59824	0.2222	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63756	-0.6565	10	0.87932	D	0	-40.4423	17.7452	0.88419	0.0:1.0:0.0:0.0	.	322	Q8N1W2	ZN710_HUMAN	Q	322	ENSP00000268154:P322Q	ENSP00000268154:P322Q	P	+	2	0	ZNF710	88412338	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	7.635000	0.83286	2.760000	0.94817	0.655000	0.94253	CCA		0.637	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1		NM_198526		9	22	1	0	0.000978159	0.010729	0.00100373	9	22		
BLM	641	broad.mit.edu	37	15	91290711	91290711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:91290711C>T	ENST00000355112.3	+	2	207	c.89C>T	c.(88-90)cCa>cTa	p.P30L	BLM_ENST00000560509.1_Missense_Mutation_p.P30L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	30					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.P30L(3)|p.P30R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTTTCAAAACCAAAATTTTCG	0.363			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2		NaN	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			4	Substitution - Missense(4)		liver(2)|urinary_tract(1)|ovary(1)	ovary(3)|skin(2)|breast(1)	6						c.(88-90)CCA>CTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							41.0	39.0	40.0					15																	91290711		2197	4298	6495	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91290711C>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.89C>T	15.37:g.91290711C>T	ENSP00000347232:p.Pro30Leu					BLM_uc010uqh.1_Missense_Mutation_p.P30L|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Missense_Mutation_p.P30L	p.P30L	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		2	186	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		30					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.89C>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339681	0.81911	.	.	ENSG00000197299	ENST00000355112	T	0.59224	0.28	5.67	5.67	0.87782	.	0.227338	0.34555	N	0.003880	T	0.73984	0.3657	M	0.76002	2.32	0.58432	D	0.99999	D;D	0.69078	0.994;0.997	P;D	0.64144	0.864;0.922	T	0.76793	-0.2828	10	0.87932	D	0	-2.8317	15.2756	0.73739	0.0:1.0:0.0:0.0	.	30;30	B2RAN0;P54132	.;BLM_HUMAN	L	30	ENSP00000347232:P30L	ENSP00000347232:P30L	P	+	2	0	BLM	89091715	0.910000	0.30920	0.975000	0.42487	0.937000	0.57800	1.695000	0.37763	2.676000	0.91093	0.655000	0.94253	CCA		0.363	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1				7	13	0	0	0	0.001984	0	7	13		
PRR35	146325	broad.mit.edu	37	16	613383	613383	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:613383C>G	ENST00000409413.3	+	2	368	c.89C>G	c.(88-90)cCc>cGc	p.P30R		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		30								p.P30R(1)		central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						ATCCCGCGGCCCTGGGGCAAA	0.622																																						uc002chk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(88-90)CCC>CGC		hypothetical protein LOC146325							85.0	95.0	92.0					16																	613383		2053	4179	6232	SO:0001583	missense	146325							g.chr16:613383C>G																												ENST00000409413.3:c.89C>G	16.37:g.613383C>G	ENSP00000386499:p.Pro30Arg						p.P30R	NM_145270	NP_660313	P0CG20	CP011_HUMAN			2	368	+			30					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.89C>G	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637470	0.87760	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.97	4.02	0.46733	.	0.000000	0.47455	D	0.000224	T	0.75925	0.3916	M	0.71581	2.175	0.48571	D	0.99967	D	0.89917	1.0	D	0.91635	0.999	T	0.78605	-0.2139	9	0.87932	D	0	.	11.827	0.52273	0.0:0.9148:0.0:0.0852	.	30	P0CG20	CP011_HUMAN	R	30	.	ENSP00000386499:P30R	P	+	2	0	C16orf11	553384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.954000	0.70298	2.308000	0.77769	0.563000	0.77884	CCC		0.622	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1				10	10	0	0	0	0.001368	0	10	10		
LMF1	64788	broad.mit.edu	37	16	919947	919947	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:919947C>T	ENST00000262301.11	-	9	1370	c.1352G>A	c.(1351-1353)cGg>cAg	p.R451Q	LMF1_ENST00000399843.2_Missense_Mutation_p.R451Q|LMF1_ENST00000568268.1_5'Flank|LMF1_ENST00000543238.1_Missense_Mutation_p.R214Q|LMF1_ENST00000568897.1_Missense_Mutation_p.R234Q	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	451					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.R451Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GAGGCAGGGCCGTCTGCTGGG	0.672																																						uc002ckj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1351-1353)CGG>CAG		lipase maturation factor 1							58.0	71.0	67.0					16																	919947		2158	4244	6402	SO:0001583	missense	64788					endoplasmic reticulum membrane|integral to membrane		g.chr16:919947C>T	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"""chromosome 16 open reading frame 26"", ""transmembrane protein 112"""	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1352G>A	16.37:g.919947C>T	ENSP00000262301:p.Arg451Gln					LMF1_uc010brg.2_5'Flank|LMF1_uc010brh.2_Missense_Mutation_p.R234Q|LMF1_uc010bri.2_Missense_Mutation_p.R214Q|LMF1_uc002ckk.2_Missense_Mutation_p.R234Q	p.R451Q	NM_022773	NP_073610	Q96S06	LMF1_HUMAN			9	1356	-		Hepatocellular(780;0.00308)	451			Lumenal (Potential).		Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Missense_Mutation	SNP	ENST00000262301.11	37	c.1352G>A	CCDS45373.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046578	0.36085	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.23552	1.9;1.9;1.9	5.16	4.19	0.49359	.	0.191670	0.43747	N	0.000529	T	0.30885	0.0779	M	0.88842	2.985	0.80722	D	1	P	0.40553	0.721	B	0.34652	0.187	T	0.16424	-1.0403	10	0.36615	T	0.2	-15.386	8.6758	0.34179	0.0:0.7651:0.1514:0.0835	.	451	Q96S06	LMF1_HUMAN	Q	451;451;234;205;214	ENSP00000262301:R451Q;ENSP00000382737:R451Q;ENSP00000437418:R214Q	ENSP00000262301:R451Q	R	-	2	0	LMF1	859948	0.199000	0.23386	0.223000	0.23860	0.866000	0.49608	3.175000	0.50855	1.141000	0.42275	0.561000	0.74099	CGG		0.672	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3		NM_022773		10	7	0	0	0	0.001368	0	10	7		
USP31	57478	broad.mit.edu	37	16	23116802	23116802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23116802C>G	ENST00000219689.7	-	5	1048	c.1049G>C	c.(1048-1050)cGg>cCg	p.R350P		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R350P(1)|p.R350L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CACTGCTTCCCGAAGTCTGGC	0.468																																						uc002dll.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|central_nervous_system(1)	ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(1048-1050)CGG>CCG		ubiquitin specific peptidase 31							123.0	106.0	112.0					16																	23116802		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23116802C>G	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1049G>C	16.37:g.23116802C>G	ENSP00000219689:p.Arg350Pro						p.R350P	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	5	1049	-			350					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.1049G>C	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638324	0.87760	.	.	ENSG00000103404	ENST00000219689	T	0.10099	2.91	4.69	4.69	0.59074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	U	0.000001	T	0.37156	0.0993	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.33163	-0.9879	10	0.56958	D	0.05	-9.8178	16.637	0.85061	0.0:1.0:0.0:0.0	.	350	Q70CQ4	UBP31_HUMAN	P	350	ENSP00000219689:R350P	ENSP00000219689:R350P	R	-	2	0	USP31	23024303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.157000	0.67596	0.655000	0.94253	CGG		0.468	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1		NM_020718		27	51	0	0	0	0.009535	0	27	51		
COG7	91949	broad.mit.edu	37	16	23445959	23445959	+	Missense_Mutation	SNP	T	T	C	rs140030187		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23445959T>C	ENST00000307149.5	-	5	870	c.685A>G	c.(685-687)Aag>Gag	p.K229E		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	229					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.K229E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CTTCTTACCTTGTGACACTTG	0.433											OREG0023684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dlo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(685-687)AAG>GAG		component of oligomeric golgi complex 7		T	GLU/LYS	1,4393	2.1+/-5.4	0,1,2196	84.0	76.0	79.0		685	5.0	1.0	16	dbSNP_134	79	0,8600		0,0,4300	no	missense	COG7	NM_153603.3	56	0,1,6496	CC,CT,TT		0.0,0.0228,0.0077	possibly-damaging	229/771	23445959	1,12993	2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23445959T>C	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.685A>G	16.37:g.23445959T>C	ENSP00000305442:p.Lys229Glu		OREG0023684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	763		p.K229E	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	5	873	-			229					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.685A>G	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858913	0.91433	2.28E-4	0.0	ENSG00000168434	ENST00000307149	T	0.52057	0.68	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	D	0.64776	0.929	T	0.61749	-0.6999	10	0.02654	T	1	-14.8601	13.9522	0.64126	0.0:0.0:0.0:1.0	.	229	P83436	COG7_HUMAN	E	229	ENSP00000305442:K229E	ENSP00000305442:K229E	K	-	1	0	COG7	23353460	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.952000	0.87827	1.893000	0.54813	0.528000	0.53228	AAG		0.433	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1				21	33	0	0	0	0.010504	0	21	33		
PLK1	5347	broad.mit.edu	37	16	23700964	23700964	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23700964C>T	ENST00000300093.4	+	9	1686	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	525	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.L525L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCACCTCAGCAACGGCA	0.652																																					Colon(12;240 564 27038 33155)	uc002dlz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|skin(1)	2						c.(1573-1575)CTC>CTT		polo-like kinase 1							28.0	27.0	27.0					16																	23700964		2197	4300	6497	SO:0001819	synonymous_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23700964C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1575C>T	16.37:g.23700964C>T							p.L525L	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	9	1628	+			525			POLO box 2.		Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.1575C>T	CCDS10616.1																																																																																				0.652	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2		NM_005030		13	13	0	0	0	0.003163	0	13	13		
SH2B1	25970	broad.mit.edu	37	16	28878329	28878329	+	Missense_Mutation	SNP	G	G	T	rs531830628		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:28878329G>T	ENST00000322610.8	+	4	1353	c.914G>T	c.(913-915)cGc>cTc	p.R305L	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R305L|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.R305L|SH2B1_ENST00000395532.4_Missense_Mutation_p.R305L|SH2B1_ENST00000545570.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	305	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R305L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGAGGAAGTCGCCTGGAGTTC	0.607																																						uc002dri.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(913-915)CGC>CTC		SH2B adaptor protein 1 isoform 1							29.0	30.0	30.0					16																	28878329		2037	4075	6112	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28878329G>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.914G>T	16.37:g.28878329G>T	ENSP00000321221:p.Arg305Leu					uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.R305L|SH2B1_uc002drk.2_Missense_Mutation_p.R305L|SH2B1_uc002drl.2_Missense_Mutation_p.R305L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.R305L|SH2B1_uc002drm.2_Missense_Mutation_p.R305L	p.R305L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			4	1353	+			305			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.914G>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874593	0.33069	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.19	3.14	0.36123	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.291786	0.27420	N	0.019443	T	0.47801	0.1465	N	0.11201	0.11	0.31406	N	0.676022	B;B;B	0.24258	0.1;0.045;0.0	B;B;B	0.29077	0.098;0.097;0.004	T	0.49204	-0.8964	10	0.02654	T	1	-22.8605	6.6354	0.22879	0.0:0.1644:0.521:0.3147	.	305;305;305	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	L	305	ENSP00000321221:R305L;ENSP00000352232:R305L;ENSP00000378903:R305L;ENSP00000337163:R305L	ENSP00000321221:R305L	R	+	2	0	SH2B1	28785830	0.009000	0.17119	0.942000	0.38095	0.975000	0.68041	0.529000	0.23019	2.060000	0.61445	0.462000	0.41574	CGC		0.607	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503		23	25	1	0	2.32416e-17	0.002299	2.61572e-17	23	25		
VKORC1	79001	broad.mit.edu	37	16	31102541	31102541	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:31102541T>C	ENST00000394975.2	-	3	633	c.406A>G	c.(406-408)Atc>Gtc	p.I136V	VKORC1_ENST00000354895.4_3'UTR|VKORC1_ENST00000319788.7_3'UTR|PRSS53_ENST00000280606.6_5'Flank|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394971.3_3'UTR|VKORC1_ENST00000300851.6_3'UTR|VKORC1_ENST00000498155.1_3'UTR	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	136					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.I136V(1)		lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TAGGTGGTGATACAAACAATG	0.537																																						uc002eas.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(406-408)ATC>GTC		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						108.0	91.0	96.0					16																	31102541		2197	4300	6497	SO:0001583	missense	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31102541T>C		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.406A>G	16.37:g.31102541T>C	ENSP00000378426:p.Ile136Val					PRSS53_uc002eaq.2_5'Flank|PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_3'UTR|VKORC1_uc002eau.2_3'UTR	p.I136V	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN			3	632	-			136			Helical; (Potential).		A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.406A>G	CCDS10703.1	.	.	.	.	.	.	.	.	.	.	T	4.361	0.066557	0.08388	.	.	ENSG00000167397	ENST00000394975	D	0.98044	-4.68	5.9	3.34	0.38264	Vitamin K epoxide reductase (2);	0.284770	0.30401	N	0.009719	D	0.87103	0.6094	N	0.01405	-0.89	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.82028	-0.0660	10	0.02654	T	1	-16.1586	6.6579	0.22998	0.0:0.3112:0.0:0.6888	.	136	Q9BQB6	VKOR1_HUMAN	V	136	ENSP00000378426:I136V	ENSP00000378426:I136V	I	-	1	0	VKORC1	31010042	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.003000	0.29809	1.068000	0.40764	0.524000	0.50904	ATC		0.537	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1		NM_024006		12	69	0	0	0	0.010729	0	12	69		
CNGB1	1258	broad.mit.edu	37	16	57935276	57935276	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:57935276T>A	ENST00000251102.8	-	29	3016	c.2956A>T	c.(2956-2958)Aac>Tac	p.N986Y	CNGB1_ENST00000564448.1_Missense_Mutation_p.N980Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	986					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.N986Y(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACATAGTCGTTGGGCAGGTAG	0.567																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|pancreas(1)	4						c.(2956-2958)AAC>TAC		cyclic nucleotide gated channel beta 1 isoform							140.0	141.0	140.0					16																	57935276		2012	4176	6188	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57935276T>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2956A>T	16.37:g.57935276T>A	ENSP00000251102:p.Asn986Tyr					CNGB1_uc010cdh.2_Missense_Mutation_p.N980Y	p.N986Y	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			29	3021	-			986			Cytoplasmic (Potential).|cAMP (By similarity).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2956A>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328715	0.81690	.	.	ENSG00000070729	ENST00000251102	D	0.93547	-3.24	5.2	5.2	0.72013	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.133023	0.50627	D	0.000109	D	0.95446	0.8521	M	0.70787	2.145	0.80722	D	1	B;D	0.64830	0.348;0.994	P;D	0.70227	0.575;0.968	D	0.95376	0.8469	10	0.87932	D	0	.	8.8761	0.35345	0.0:0.0832:0.0:0.9168	.	358;986	Q14028-2;Q14028	.;CNGB1_HUMAN	Y	986	ENSP00000251102:N986Y	ENSP00000251102:N986Y	N	-	1	0	CNGB1	56492777	0.992000	0.36948	0.992000	0.48379	0.947000	0.59692	3.225000	0.51246	1.968000	0.57251	0.459000	0.35465	AAC		0.567	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2		NM_001297		29	68	0	0	0	0.009535	0	29	68		
RLTPR	146206	broad.mit.edu	37	16	67679643	67679643	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:67679643G>A	ENST00000334583.6	+	3	477	c.149G>A	c.(148-150)aGa>aAa	p.R50K	RLTPR_ENST00000545661.1_Missense_Mutation_p.R50K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	50					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.R50K(1)|p.R90K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTACGATGGAGAGCCTACCTG	0.667																																						uc002etn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)	1						c.(148-150)AGA>AAA		RGD motif, leucine rich repeats, tropomodulin							70.0	82.0	78.0					16																	67679643		2126	4242	6368	SO:0001583	missense	146206							g.chr16:67679643G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.149G>A	16.37:g.67679643G>A	ENSP00000334958:p.Arg50Lys					RLTPR_uc010cel.1_Missense_Mutation_p.R50K|RLTPR_uc010vjr.1_Missense_Mutation_p.R50K	p.R50K	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	3	269	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	50					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.149G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264498	0.80358	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.56275	0.56;0.47	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.73962	2.25	0.34217	D	0.675011	D;D	0.64830	0.976;0.994	P;D	0.70716	0.755;0.97	T	0.79750	-0.1672	10	0.56958	D	0.05	-7.9587	14.4185	0.67168	0.0:0.0:1.0:0.0	.	50;50	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	K	50	ENSP00000334958:R50K;ENSP00000441481:R50K	ENSP00000334958:R50K	R	+	2	0	RLTPR	66237144	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.098000	0.64548	2.497000	0.84241	0.561000	0.74099	AGA		0.667	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1		NM_001013838		32	29	0	0	0	0.010818	0	32	29		
WWP2	11060	broad.mit.edu	37	16	69959346	69959346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:69959346C>T	ENST00000359154.2	+	11	1294	c.1193C>T	c.(1192-1194)tCg>tTg	p.S398L	WWP2_ENST00000542271.1_Missense_Mutation_p.S282L|WWP2_ENST00000448661.1_Missense_Mutation_p.S398L|WWP2_ENST00000356003.2_Missense_Mutation_p.S398L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_5'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	398					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.S398L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAGTGCTTCGACTGACCAT	0.488																																						uc002exu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(1192-1194)TCG>TTG		WW domain containing E3 ubiquitin protein ligase							386.0	385.0	385.0					16																	69959346		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69959346C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1193C>T	16.37:g.69959346C>T	ENSP00000352069:p.Ser398Leu					WWP2_uc002exv.1_Missense_Mutation_p.S398L|WWP2_uc010vlm.1_Missense_Mutation_p.S282L|WWP2_uc010vln.1_Missense_Mutation_p.S16L|WWP2_uc002exw.1_5'UTR	p.S398L	NM_007014	NP_008945	O00308	WWP2_HUMAN			12	1282	+			398					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.1193C>T	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282965	0.59867	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.65	4.7	0.59300	WW/Rsp5/WWP (1);	0.341205	0.32218	N	0.006409	T	0.25082	0.0609	N	0.22421	0.69	0.37221	D	0.905236	B	0.09022	0.002	B	0.06405	0.002	T	0.10753	-1.0616	9	.	.	.	.	14.2431	0.65971	0.0:0.9289:0.0:0.0711	.	398	O00308	WWP2_HUMAN	L	398;398;398;285;282	ENSP00000352069:S398L;ENSP00000396871:S398L;ENSP00000348283:S398L;ENSP00000445616:S282L	.	S	+	2	0	WWP2	68516847	0.043000	0.20138	0.499000	0.27577	0.994000	0.84299	3.252000	0.51461	1.389000	0.46526	0.557000	0.71058	TCG		0.488	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1		NM_007014		242	221	0	0	0	0.00361	0	242	221		
ZNF23	7571	broad.mit.edu	37	16	71483770	71483770	+	Missense_Mutation	SNP	T	T	A	rs370162998		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:71483770T>A	ENST00000393539.2	-	6	971	c.158A>T	c.(157-159)aAt>aTt	p.N53I	ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_5'UTR|ZNF23_ENST00000428724.2_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.N53I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.N53I	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N53I(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGTCAAATCATTGTCAGTCTG	0.318																																						uc002faf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(157-159)AAT>ATT		zinc finger protein 23							44.0	43.0	43.0					16																	71483770		2198	4299	6497	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483770T>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.158A>T	16.37:g.71483770T>A	ENSP00000377171:p.Asn53Ile					ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_5'UTR|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Missense_Mutation_p.N53I|ZNF23_uc002fai.2_Missense_Mutation_p.N92I	p.N53I	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	972	-		Ovarian(137;0.00768)	53					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.158A>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	T	2.472	-0.321562	0.05386	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828	T;T;T	0.27890	1.64;1.64;1.64	3.9	-3.8	0.04307	.	1.371870	0.04916	N	0.454179	T	0.14056	0.0340	N	0.10916	0.065	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.19095	-1.0316	10	0.37606	T	0.19	-0.293	3.4751	0.07582	0.2744:0.2536:0.0:0.472	.	53;53	B3KR55;P17027	.;ZNF23_HUMAN	I	53	ENSP00000377171:N53I;ENSP00000349796:N53I;ENSP00000395712:N53I	ENSP00000349796:N53I	N	-	2	0	ZNF23	70041271	0.000000	0.05858	0.000000	0.03702	0.303000	0.27691	-1.368000	0.02580	-0.720000	0.04935	-0.609000	0.04063	AAT		0.318	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23		NM_145911		14	36	0	0	0	0.00245	0	14	36		
RFWD3	55159	broad.mit.edu	37	16	74685992	74685992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:74685992G>A	ENST00000361070.4	-	3	644	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	RFWD3_ENST00000571750.1_Nonsense_Mutation_p.Q183*	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	183					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q183*(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGCTCACCTGAAAGTAAGCA	0.413																																						uc002fda.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(2)|breast(1)	3						c.(547-549)CAG>TAG		ring finger and WD repeat domain 3							83.0	79.0	80.0					16																	74685992		2198	4300	6498	SO:0001587	stop_gained	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74685992G>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.547C>T	16.37:g.74685992G>A	ENSP00000354361:p.Gln183*					RFWD3_uc010cgq.2_Nonsense_Mutation_p.Q183*	p.Q183*	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			3	645	-			183					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Nonsense_Mutation	SNP	ENST00000361070.4	37	c.547C>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	37	6.208546	0.97376	.	.	ENSG00000168411	ENST00000361070	.	.	.	5.93	5.93	0.95920	.	0.326401	0.29424	N	0.012189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.9739	17.5444	0.87857	0.0:0.0:1.0:0.0	.	.	.	.	X	183	.	ENSP00000354361:Q183X	Q	-	1	0	RFWD3	73243493	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.737000	0.47393	2.810000	0.96702	0.650000	0.86243	CAG		0.413	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2		NM_018124		13	35	0	0	0	0.00245	0	13	35		
ZFPM1	161882	broad.mit.edu	37	16	88555534	88555534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:88555534G>A	ENST00000319555.3	+	3	563	c.241G>A	c.(241-243)Gag>Aag	p.E81K	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	81					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)	p.E81K(1)		central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CACGGAGGAAGAGCCGGGCAG	0.711																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(241-243)GAG>AAG		zinc finger protein, multitype 1							51.0	42.0	45.0					16																	88555534		2186	4290	6476	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88555534G>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.241G>A	16.37:g.88555534G>A	ENSP00000326630:p.Glu81Lys						p.E81K	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	3	274	+			81						Missense_Mutation	SNP	ENST00000319555.3	37	c.241G>A	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247274	0.39697	.	.	ENSG00000179588	ENST00000319555	T	0.07114	3.22	3.83	1.78	0.24846	.	2.584270	0.03158	U	0.168932	T	0.05181	0.0138	N	0.11106	0.095	0.09310	N	1	B	0.32918	0.39	B	0.26864	0.074	T	0.31420	-0.9944	10	0.62326	D	0.03	.	5.3991	0.16286	0.1087:0.0:0.6914:0.1999	.	81	Q8IX07	FOG1_HUMAN	K	81	ENSP00000326630:E81K	ENSP00000326630:E81K	E	+	1	0	ZFPM1	87083035	0.000000	0.05858	0.005000	0.12908	0.473000	0.32948	-0.066000	0.11598	0.361000	0.24292	0.484000	0.47621	GAG		0.711	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2				3	7	0	0	0	0.004672	0	3	7		
ANKRD11	29123	broad.mit.edu	37	16	89345686	89345686	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:89345686T>C	ENST00000301030.4	-	9	7724	c.7264A>G	c.(7264-7266)Atc>Gtc	p.I2422V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.I2422V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2422					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)		p.I2422V(1)		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)		TCCAGCTTGATGGCGTCCACG	0.607																																						uc002fmx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(7264-7266)ATC>GTC		ankyrin repeat domain 11							26.0	24.0	25.0					16																	89345686		2197	4297	6494	SO:0001583	missense	29123					nucleus		g.chr16:89345686T>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.7264A>G	16.37:g.89345686T>C	ENSP00000301030:p.Ile2422Val					ANKRD11_uc002fmy.1_Missense_Mutation_p.I2422V|ANKRD11_uc002fnc.1_Missense_Mutation_p.I2422V|ANKRD11_uc002fna.1_Missense_Mutation_p.I87V|ANKRD11_uc002fnb.1_Missense_Mutation_p.I2379V	p.I2422V	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)	9	7725	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2422					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.7264A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	t	11.25	1.582454	0.28180	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.44083	0.93;0.93	4.96	4.96	0.65561	.	0.073637	0.50627	D	0.000114	T	0.39489	0.1080	L	0.53729	1.69	0.80722	D	1	P	0.38020	0.615	B	0.36186	0.219	T	0.27640	-1.0068	10	0.35671	T	0.21	.	14.6349	0.68682	0.0:0.0:0.0:1.0	.	2422	Q6UB99	ANR11_HUMAN	V	2422	ENSP00000301030:I2422V;ENSP00000367581:I2422V	ENSP00000301030:I2422V	I	-	1	0	ANKRD11	87873187	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	4.917000	0.63369	1.865000	0.54081	0.157000	0.16456	ATC		0.607	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		3	4	0	0	0	0.001984	0	3	4		
DPEP1	1800	broad.mit.edu	37	16	89702959	89702959	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:89702959G>T	ENST00000393092.3	+	5	680	c.389G>T	c.(388-390)cGg>cTg	p.R130L	DPEP1_ENST00000421184.1_Missense_Mutation_p.R130L|DPEP1_ENST00000261615.4_Missense_Mutation_p.R130L	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	130					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.R130L(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CAGGCCTTCCGGGAAGGGAAG	0.662																																						uc010cin.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(388-390)CGG>CTG		dipeptidase 1 precursor	Cilastatin(DB01597)						48.0	46.0	47.0					16																	89702959		2190	4293	6483	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89702959G>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.389G>T	16.37:g.89702959G>T	ENSP00000376807:p.Arg130Leu					DPEP1_uc002fnr.3_Missense_Mutation_p.R130L|DPEP1_uc002fns.3_Missense_Mutation_p.R130L	p.R130L	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	5	592	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	130					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.389G>T	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	g	10.99	1.506796	0.26949	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.23754	1.89;1.89;1.89	5.27	-5.0	0.03001	.	0.848343	0.10907	N	0.620987	T	0.24812	0.0602	M	0.72576	2.205	0.19575	N	0.999963	B	0.27380	0.177	B	0.30495	0.116	T	0.27157	-1.0082	10	0.56958	D	0.05	-11.5838	7.463	0.27306	0.4673:0.0:0.4224:0.1103	.	130	P16444	DPEP1_HUMAN	L	130	ENSP00000397313:R130L;ENSP00000376807:R130L;ENSP00000261615:R130L	ENSP00000261615:R130L	R	+	2	0	DPEP1	88230460	0.000000	0.05858	0.074000	0.20217	0.422000	0.31414	-2.370000	0.01075	-1.463000	0.01904	-1.334000	0.01262	CGG		0.662	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1		NM_001128141		9	23	1	0	0.00621372	0.006214	0.00633476	9	23		
MED9	55090	broad.mit.edu	37	17	17394774	17394774	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:17394774A>T	ENST00000268711.3	+	2	462	c.406A>T	c.(406-408)Aag>Tag	p.K136*		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	136						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K136*(1)		cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCAAAAGTACAAGAGCCTCTG	0.567																																						uc002grh.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(406-408)AAG>TAG		mediator complex subunit 9							73.0	74.0	74.0					17																	17394774		2203	4300	6503	SO:0001587	stop_gained	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394774A>T	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.406A>T	17.37:g.17394774A>T	ENSP00000268711:p.Lys136*						p.K136*	NM_018019	NP_060489	Q9NWA0	MED9_HUMAN			2	462	+			136			Potential.			Nonsense_Mutation	SNP	ENST00000268711.3	37	c.406A>T	CCDS11184.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158177	0.78114	.	.	ENSG00000141026	ENST00000268711	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.4792	13.2625	0.60113	1.0:0.0:0.0:0.0	.	.	.	.	X	136	.	ENSP00000268711:K136X	K	+	1	0	MED9	17335499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.825000	0.92029	1.911000	0.55334	0.533000	0.62120	AAG		0.567	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2		NM_018019		22	66	0	0	0	0.00278	0	22	66		
MYO15A	51168	broad.mit.edu	37	17	18035826	18035826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:18035826G>C	ENST00000205890.5	+	11	4604	c.4266G>C	c.(4264-4266)caG>caC	p.Q1422H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1422	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1422H(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCCTGCCCAGCTCAGGCAGG	0.582																																						uc010vxh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(4264-4266)CAG>CAC		myosin XV							62.0	65.0	64.0					17																	18035826		1915	4115	6030	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18035826G>C	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.4266G>C	17.37:g.18035826G>C	ENSP00000205890:p.Gln1422His						p.Q1422H	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			10	4604	+	all_neural(463;0.228)		1422			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.4266G>C	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235704	0.39498	.	.	ENSG00000091536	ENST00000205890	D	0.88354	-2.37	5.31	3.32	0.38043	Myosin head, motor domain (2);	.	.	.	.	D	0.90157	0.6924	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88235	0.2906	9	0.41790	T	0.15	.	11.185	0.48650	0.138:0.0:0.862:0.0	.	1422	Q9UKN7	MYO15_HUMAN	H	1422	ENSP00000205890:Q1422H	ENSP00000205890:Q1422H	Q	+	3	2	MYO15A	17976551	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	1.358000	0.34102	0.798000	0.33994	0.561000	0.74099	CAG		0.582	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239		12	57	0	0	0	0.001368	0	12	57		
LASP1	3927	broad.mit.edu	37	17	37026461	37026461	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:37026461C>G	ENST00000318008.6	+	1	350	c.19C>G	c.(19-21)Cgg>Ggg	p.R7G	LASP1_ENST00000433206.2_5'UTR|LASP1_ENST00000435347.3_Missense_Mutation_p.R7G	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	7	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)	p.R7G(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CAACTGCGCCCGGTGCGGCAA	0.672			T	MLL	AML																																	uc002hra.2		NaN		Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(19-21)CGG>GGG		LIM and SH3 protein 1							60.0	56.0	58.0					17																	37026461		2203	4300	6503	SO:0001583	missense	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37026461C>G		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.19C>G	17.37:g.37026461C>G	ENSP00000325240:p.Arg7Gly					LASP1_uc010wdy.1_Missense_Mutation_p.R7G|LASP1_uc010cvq.2_5'UTR|LASP1_uc010wdz.1_5'UTR	p.R7G	NM_006148	NP_006139	Q14847	LASP1_HUMAN			1	350	+			7			LIM zinc-binding.		B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	37	c.19C>G	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601005	0.66332	.	.	ENSG00000002834	ENST00000318008;ENST00000443937;ENST00000435347	D;D;D	0.86627	-2.15;-2.15;-2.15	4.08	4.08	0.47627	Zinc finger, LIM-type (5);	0.224065	0.38605	N	0.001625	D	0.90048	0.6892	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.90161	0.4228	10	0.87932	D	0	.	9.2686	0.37657	0.2156:0.7844:0.0:0.0	.	7;7	B4DJI4;Q14847	.;LASP1_HUMAN	G	7	ENSP00000325240:R7G;ENSP00000414803:R7G;ENSP00000392853:R7G	ENSP00000325240:R7G	R	+	1	2	LASP1	34279987	0.998000	0.40836	0.999000	0.59377	0.731000	0.41821	1.252000	0.32874	1.836000	0.53414	0.313000	0.20887	CGG		0.672	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3		NM_006148		15	12	0	0	0	0.00499	0	15	12		
KRTAP4-9	100132386	broad.mit.edu	37	17	39261768	39261768	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:39261768G>A	ENST00000391415.1	+	1	185	c.128G>A	c.(127-129)aGc>aAc	p.S43N		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	43	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S43N(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCCGCCCCAGCTGTTGTGTA	0.652																																						uc010wfp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(127-129)AGC>AAC		keratin associated protein 4-9							15.0	22.0	20.0					17																	39261768		692	1591	2283	SO:0001583	missense	100132386					keratin filament		g.chr17:39261768G>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.128G>A	17.37:g.39261768G>A	ENSP00000375234:p.Ser43Asn						p.S43N	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	128	+			43			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].|4.			Missense_Mutation	SNP	ENST00000391415.1	37	c.128G>A	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	10.84	1.463930	0.26335	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.29917	1.55	3.38	1.01	0.19927	.	0.536588	0.15535	U	0.257300	T	0.43166	0.1235	H	0.96239	3.79	0.24492	N	0.994297	B	0.18166	0.026	B	0.22880	0.042	T	0.48885	-0.8995	10	0.51188	T	0.08	.	5.2508	0.15521	0.1237:0.4166:0.4598:0.0	.	43	Q9BYQ8	KRA49_HUMAN	N	43	ENSP00000375234:S43N	ENSP00000334461:S43N	S	+	2	0	KRTAP4-9	36515294	0.000000	0.05858	0.994000	0.49952	0.418000	0.31294	-0.366000	0.07563	0.520000	0.28426	0.306000	0.20318	AGC		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1		NM_001146041		8	29	0	0	0	0.006214	0	8	29		
SLC4A1	6521	broad.mit.edu	37	17	42337895	42337895	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:42337895A>G	ENST00000262418.6	-	6	517	c.362T>C	c.(361-363)cTa>cCa	p.L121P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	121	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.L121P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCAGGTCTAGGAGGACAGT	0.597																																						uc002igf.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(361-363)CTA>CCA		solute carrier family 4, anion exchanger, member							53.0	50.0	51.0					17																	42337895		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42337895A>G		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.362T>C	17.37:g.42337895A>G	ENSP00000262418:p.Leu121Pro					SLC4A1_uc002igg.3_Missense_Mutation_p.L121P	p.L121P	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	6	511	-		Breast(137;0.014)|Prostate(33;0.0181)	121			Cytoplasmic.		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.362T>C	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	a	23.0	4.357413	0.82243	.	.	ENSG00000004939	ENST00000262418	T	0.76709	-1.04	5.38	5.38	0.77491	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.158616	0.42821	D	0.000645	D	0.90338	0.6977	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.969	D	0.92597	0.6088	10	0.87932	D	0	.	14.3726	0.66852	1.0:0.0:0.0:0.0	.	121;121	E2RVJ0;P02730	.;B3AT_HUMAN	P	121	ENSP00000262418:L121P	ENSP00000262418:L121P	L	-	2	0	SLC4A1	39693421	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	9.339000	0.96797	2.043000	0.60533	0.379000	0.24179	CTA		0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1		NM_000342		13	47	0	0	0	0.001855	0	13	47		
TRIM25	7706	broad.mit.edu	37	17	54985878	54985878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:54985878C>G	ENST00000316881.4	-	2	693	c.644G>C	c.(643-645)gGg>gCg	p.G215A	TRIM25_ENST00000537230.1_Missense_Mutation_p.G215A	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	215	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G215A(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCTCGACGCCCCGTTGATCTG	0.582																																						uc002iut.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|breast(1)|skin(1)	3						c.(643-645)GGG>GCG		tripartite motif-containing 25							149.0	107.0	121.0					17																	54985878		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54985878C>G	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.644G>C	17.37:g.54985878C>G	ENSP00000323889:p.Gly215Ala					TRIM25_uc010dcj.2_Missense_Mutation_p.G7A	p.G215A	NM_005082	NP_005073	Q14258	TRI25_HUMAN			2	704	-	Breast(9;6.15e-08)		215			Interaction with influenza A virus NS1.			Missense_Mutation	SNP	ENST00000316881.4	37	c.644G>C	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021185	0.35701	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.39056	1.1;1.1	4.38	4.38	0.52667	.	0.208574	0.33753	N	0.004600	T	0.37865	0.1019	L	0.55103	1.725	0.28569	N	0.910726	B	0.29481	0.245	B	0.31101	0.124	T	0.22521	-1.0214	10	0.26408	T	0.33	.	12.7546	0.57328	0.0:1.0:0.0:0.0	.	215	Q14258	TRI25_HUMAN	A	215	ENSP00000323889:G215A;ENSP00000445961:G215A	ENSP00000323889:G215A	G	-	2	0	TRIM25	52340877	0.143000	0.22626	0.564000	0.28396	0.536000	0.34869	2.102000	0.41796	2.706000	0.92434	0.655000	0.94253	GGG		0.582	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1		NM_005082		48	69	0	0	0	0.00361	0	48	69		
RAD51C	5889	broad.mit.edu	37	17	56774141	56774141	+	Silent	SNP	T	T	C	rs573992101		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:56774141T>C	ENST00000337432.4	+	3	563	c.492T>C	c.(490-492)ttT>ttC	p.F164F	RAD51C_ENST00000583539.1_Silent_p.F164F|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	164					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.F164F(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGAAGTTTTATGGTTGATA	0.423								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(490-492)TTT>TTC	Homologous_recombination	RAD51 homolog C isoform 1							219.0	199.0	206.0					17																	56774141		2203	4300	6503	SO:0001819	synonymous_variant	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56774141T>C	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.492T>C	17.37:g.56774141T>C						RAD51C_uc010woa.1_Silent_p.F164F|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA	p.F164F	NM_058216	NP_478123	O43502	RA51C_HUMAN			3	534	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		164					O43503|Q3B783	Silent	SNP	ENST00000337432.4	37	c.492T>C	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	T	9.404	1.078800	0.20227	.	.	ENSG00000108384	ENST00000413590	.	.	.	5.65	4.58	0.56647	.	.	.	.	.	T	0.58466	0.2124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55062	-0.8199	4	.	.	.	-22.1356	7.9307	0.29901	0.0:0.1591:0.0:0.8409	.	.	.	.	H	44	.	.	Y	+	1	0	RAD51C	54129140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.078000	0.41567	0.979000	0.38497	-0.250000	0.11733	TAT		0.423	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2		NM_058216		95	83	0	0	0	0.00361	0	95	83		
OTOP3	347741	broad.mit.edu	37	17	72942918	72942918	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:72942918T>C	ENST00000328801.4	+	6	968	c.968T>C	c.(967-969)aTg>aCg	p.M323T		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	323						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.M323T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCACCCCACATGGGTGCCCAC	0.632																																						uc010wrr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(967-969)ATG>ACG		otopetrin 3							110.0	110.0	110.0					17																	72942918		2203	4300	6503	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72942918T>C	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.968T>C	17.37:g.72942918T>C	ENSP00000328090:p.Met323Thr					OTOP3_uc010wrq.1_Missense_Mutation_p.M305T	p.M323T	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			6	968	+	all_lung(278;0.151)|Lung NSC(278;0.185)		323						Missense_Mutation	SNP	ENST00000328801.4	37	c.968T>C	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.882779	0.00532	.	.	ENSG00000182938	ENST00000328801	T	0.22134	1.97	4.29	-1.37	0.09056	.	1.473130	0.04623	N	0.402266	T	0.05318	0.0141	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.08837	T	0.75	-23.7106	2.1179	0.03718	0.2931:0.4109:0.1076:0.1884	.	323	Q7RTS5	OTOP3_HUMAN	T	323	ENSP00000328090:M323T	ENSP00000328090:M323T	M	+	2	0	OTOP3	70454513	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.180000	0.09754	-0.091000	0.12440	-0.464000	0.05259	ATG		0.632	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1		NM_178233		80	180	0	0	0	0.00361	0	80	180		
TNRC6C	57690	broad.mit.edu	37	17	76079209	76079209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:76079209C>T	ENST00000588061.1	+	13	4166	c.3439C>T	c.(3439-3441)Cat>Tat	p.H1147Y	TNRC6C_ENST00000335749.4_Missense_Mutation_p.H1144Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.H1144Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.H1147Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.H1144Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.H1147Y			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1147					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H1147Y(1)|p.H1144Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAATCCTCAACATATGACGAT	0.463																																						uc002jud.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)	2						c.(3439-3441)CAT>TAT		trinucleotide repeat containing 6C isoform 2							94.0	93.0	93.0					17																	76079209		1960	4160	6120	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76079209C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3439C>T	17.37:g.76079209C>T	ENSP00000468647:p.His1147Tyr					TNRC6C_uc002juf.2_Missense_Mutation_p.H1144Y	p.H1147Y	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		12	4039	+			1147					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.3439C>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274478	0.95459	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.84	5.84	0.93424	.	0.093558	0.64402	D	0.000001	T	0.41442	0.1159	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.991;0.998	D;D	0.71656	0.974;0.967	T	0.07790	-1.0754	10	0.72032	D	0.01	-12.764	20.1291	0.97993	0.0:1.0:0.0:0.0	.	1144;1147	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	Y	1147;1144;1144;1147;1147;1144	ENSP00000336783:H1144Y;ENSP00000301624:H1147Y;ENSP00000440310:H1147Y;ENSP00000442421:H1144Y	ENSP00000301624:H1147Y	H	+	1	0	TNRC6C	73590804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.764000	0.94973	0.561000	0.74099	CAT		0.463	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1		NM_018996		49	42	0	0	0	0.00361	0	49	42		
ACTG1	71	broad.mit.edu	37	17	79478446	79478446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:79478446C>T	ENST00000575842.1	-	3	996	c.570G>A	c.(568-570)atG>atA	p.M190I	ACTG1_ENST00000573283.1_Missense_Mutation_p.M190I|AC139149.1_ENST00000584254.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.M190I|ACTG1_ENST00000331925.2_Missense_Mutation_p.M190I			P63261	ACTG_HUMAN	actin, gamma 1	190					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.M190I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGAGGATCTTCATGAGGTAGT	0.642																																						uc002kaj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(568-570)ATG>ATA		actin, gamma 1 propeptide							50.0	52.0	51.0					17																	79478446		2203	4300	6503	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478446C>T		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.570G>A	17.37:g.79478446C>T	ENSP00000458162:p.Met190Ile					ACTG1_uc002kah.1_Missense_Mutation_p.M68I|ACTG1_uc002kai.1_Missense_Mutation_p.M147I|ACTG1_uc002kak.1_Missense_Mutation_p.M190I|ACTG1_uc010wun.1_Missense_Mutation_p.M190I|ACTG1_uc002kal.1_Missense_Mutation_p.M190I|ACTG1_uc002kag.2_RNA	p.M190I	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		3	595	-	all_neural(118;0.0878)|Melanoma(429;0.242)		190					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.570G>A	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	c	14.71	2.617868	0.46736	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.97352	-4.35	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	L	0.45228	1.405	0.58432	D	0.999993	B	0.15930	0.015	B	0.24701	0.055	D	0.93439	0.6792	10	0.87932	D	0	.	16.2178	0.82239	0.0:1.0:0.0:0.0	.	190	P63261	ACTG_HUMAN	I	190;148	ENSP00000331514:M190I	ENSP00000331514:M190I	M	-	3	0	ACTG1	77093041	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.396000	0.79891	2.116000	0.64780	0.553000	0.69018	ATG		0.642	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2		NM_001614		26	59	0	0	0	0.005443	0	26	59		
IMPA2	3613	broad.mit.edu	37	18	11999053	11999053	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:11999053A>G	ENST00000269159.3	+	2	339	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	IMPA2_ENST00000588927.1_Intron|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	33					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.I33V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTATTTCAGATCATCAGAAA	0.423																																						uc002kqp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(97-99)ATC>GTC		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)						110.0	107.0	108.0					18																	11999053		2203	4300	6503	SO:0001630	splice_region_variant	3613				inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr18:11999053A>G	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.97-1A>G	18.37:g.11999053A>G						IMPA2_uc002kqo.1_5'UTR|IMPA2_uc010dlb.1_5'UTR|IMPA2_uc002kqq.1_5'UTR	p.I33V	NM_014214	NP_055029	O14732	IMPA2_HUMAN			2	311	+			33					B0YJ29|Q9UJT3	Missense_Mutation	SNP	ENST00000269159.3	37	c.97A>G	CCDS11855.1	.	.	.	.	.	.	.	.	.	.	A	4.108	0.018092	0.07959	.	.	ENSG00000141401	ENST00000269159;ENST00000383376	T;T	0.48836	0.8;0.8	5.38	5.38	0.77491	.	0.135416	0.49305	D	0.000157	T	0.29976	0.0750	N	0.20530	0.585	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12863	-1.0531	9	.	.	.	-25.0147	9.5971	0.39580	0.9208:0.0:0.0792:0.0	.	33	O14732	IMPA2_HUMAN	V	33	ENSP00000269159:I33V;ENSP00000372867:I33V	.	I	+	1	0	IMPA2	11989053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.098000	0.41757	2.046000	0.60703	0.533000	0.62120	ATC		0.423	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			Missense_Mutation	56	17	0	0	0	0.00361	0	56	17		
ZNF521	25925	broad.mit.edu	37	18	22806433	22806433	+	Silent	SNP	G	G	A	rs201698806		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:22806433G>A	ENST00000361524.3	-	4	1597	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.S263S|ZNF521_ENST00000538137.2_Silent_p.S483S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	483					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S483S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGACAACTTCGGAACAGAAGT	0.443			T	PAX5	ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		20852	0.0		0.0	False		,,,				2504	0.001					uc002kvk.2		NaN		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1447-1449)TCC>TCT		zinc finger protein 521		G		1,4405	2.1+/-5.4	0,1,2202	96.0	94.0	95.0		1449	-12.1	0.0	18		95	0,8600		0,0,4300	no	coding-synonymous	ZNF521	NM_015461.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		483/1312	22806433	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806433G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1449C>T	18.37:g.22806433G>A						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.S483S|ZNF521_uc002kvl.2_Silent_p.S263S	p.S483S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1696	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		483			C2H2-type 11.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.1449C>T	CCDS32806.1																																																																																				0.443	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		NM_015461		37	64	0	0	0	0.006999	0	37	64		
ASXL3	80816	broad.mit.edu	37	18	31318937	31318937	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:31318937A>G	ENST00000269197.5	+	11	1569	c.1569A>G	c.(1567-1569)tcA>tcG	p.S523S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S230S(1)|p.S523S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGGGAAGTCAGAATCACCCC	0.393																																						uc010dmg.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|pancreas(1)	3						c.(1567-1569)TCA>TCG		additional sex combs like 3							82.0	78.0	80.0					18																	31318937		1934	4145	6079	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31318937A>G	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.1569A>G	18.37:g.31318937A>G						ASXL3_uc002kxq.2_Silent_p.S230S	p.S523S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1624	+			523					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.1569A>G	CCDS45847.1																																																																																				0.393	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2				11	10	0	0	0	0.008291	0	11	10		
WDR88	126248	broad.mit.edu	37	19	33663289	33663289	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:33663289T>C	ENST00000355868.3	+	10	1261	c.1185T>C	c.(1183-1185)atT>atC	p.I395I	WDR88_ENST00000361680.2_Silent_p.I395I	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	395								p.I395I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTGAAGAAATTGATGAAATTC	0.398																																						uc002nui.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1183-1185)ATT>ATC		PQQ repeat and WD repeat domain containing							122.0	122.0	122.0					19																	33663289		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33663289T>C	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1185T>C	19.37:g.33663289T>C							p.I395I	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			10	1263	+	Esophageal squamous(110;0.137)		395			WD 7.		Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.1185T>C	CCDS12429.1																																																																																				0.398	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1		NM_173479		74	35	0	0	0	0.00361	0	74	35		
ZNF829	374899	broad.mit.edu	37	19	37383113	37383113	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:37383113T>G	ENST00000391711.3	-	6	944	c.580A>C	c.(580-582)Agt>Cgt	p.S194R	ZNF829_ENST00000520965.1_Missense_Mutation_p.S275R|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S194R(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCCACGACTAAAGGACTTC	0.368																																						uc002ofa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(580-582)AGT>CGT		zinc finger protein 829							69.0	69.0	69.0					19																	37383113		2149	4281	6430	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37383113T>G	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.580A>C	19.37:g.37383113T>G	ENSP00000429266:p.Ser194Arg					ZNF345_uc002oez.2_Intron	p.S194R	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	942	-	Esophageal squamous(110;0.183)		194			C2H2-type 2; degenerate.		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.580A>C	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	T	2.752	-0.259886	0.05791	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.01119	5.31	3.41	3.41	0.39046	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.25890	0.77	0.20074	N	0.999933	B	0.13594	0.008	B	0.06405	0.002	T	0.48647	-0.9017	9	0.22706	T	0.39	.	3.722	0.08460	0.0:0.1175:0.2273:0.6551	.	194	Q3KNS6	ZN829_HUMAN	R	194	ENSP00000429266:S194R	ENSP00000429266:S194R	S	-	1	0	ZNF829	42074953	0.000000	0.05858	1.000000	0.80357	0.603000	0.37013	0.388000	0.20735	1.783000	0.52377	0.528000	0.53228	AGT		0.368	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3		NM_001037232		24	105	0	0	0	0.00333	0	24	105		
SAMD4B	55095	broad.mit.edu	37	19	39877398	39877398	+	IGR	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:39877398G>A	ENST00000314471.6	+	0	4519				PAF1_ENST00000221266.7_Missense_Mutation_p.S310L|PAF1_ENST00000595564.1_Missense_Mutation_p.S333L|PAF1_ENST00000221265.3_Missense_Mutation_p.S343L	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S343L(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTTGGTGCCTGACTGAACCCC	0.567																																						uc002old.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1027-1029)TCA>TTA		Paf1, RNA polymerase II associated factor,							120.0	102.0	108.0					19																	39877398		2203	4300	6503	SO:0001628	intergenic_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39877398G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39877398G>A						PAF1_uc002ole.1_Missense_Mutation_p.S333L|PAF1_uc010xuv.1_RNA	p.S343L	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		12	1203	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		343					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1028C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	g	16.01	3.000653	0.54254	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.56	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.42245	1.32	0.80722	D	1	P;B	0.40731	0.728;0.135	B;B	0.42522	0.39;0.143	T	0.35251	-0.9796	9	0.33141	T	0.24	-6.6684	11.4976	0.50417	0.0864:0.0:0.9136:0.0	.	310;343	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	L	343;310	.	ENSP00000221265:S343L	S	-	2	0	PAF1	44569238	1.000000	0.71417	0.962000	0.40283	0.888000	0.51559	7.031000	0.76491	2.641000	0.89580	0.645000	0.84053	TCA		0.567	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		60	230	0	0	0	0.00361	0	60	230		
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	WGS			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	238	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|pancreas(1)	3						c.(712-714)AAC>AGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							36.0	32.0	34.0					19																	45867687		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867687T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.713A>G	19.37:g.45867687T>C	ENSP00000375809:p.Asn238Ser					ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron	p.N238S	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	760	-		Ovarian(192;0.0728)|all_neural(266;0.112)	238			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.713A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668897	0.88348	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.80480	-1.38;-1.38;-1.38	4.72	4.72	0.59763	DEAD2 (1);Helicase-like, DEXD box c2 type (1);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.994	D;D;D	0.91635	0.999;0.979;0.994	D	0.94883	0.8041	10	0.87932	D	0	-50.8517	12.4641	0.55749	0.0:0.0:0.0:1.0	.	160;214;238	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	S	188;214;238;160;214	ENSP00000375809:N238S;ENSP00000375808:N160S;ENSP00000375804:N214S	ENSP00000375804:N214S	N	-	2	0	ERCC2	50559527	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.538000	0.67193	2.102000	0.63906	0.459000	0.35465	AAC		0.637	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		11	6	0	0	0	0.001855	0	11	6		
PIH1D1	55011	broad.mit.edu	37	19	49950297	49950297	+	Missense_Mutation	SNP	A	A	G	rs17844886		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:49950297A>G	ENST00000262265.5	-	7	906	c.671T>C	c.(670-672)gTt>gCt	p.V224A	PIH1D1_ENST00000596049.1_Missense_Mutation_p.V224A|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	224			V -> I (in dbSNP:rs13394). {ECO:0000269|PubMed:15489334}.		box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)		p.V224A(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGGGAGGTCAACTTCGGCCAA	0.592																																						uc002pns.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(670-672)GTT>GCT		NOP17							111.0	114.0	113.0					19																	49950297		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49950297A>G	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.671T>C	19.37:g.49950297A>G	ENSP00000262265:p.Val224Ala					uc002pnr.1_5'Flank	p.V224A	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	7	955	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	224					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.671T>C	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281975	0.40394	.	.	ENSG00000104872	ENST00000262265	T	0.25085	1.82	4.76	4.76	0.60689	.	0.125124	0.51477	D	0.000095	T	0.25344	0.0616	L	0.48642	1.525	0.09310	N	0.999998	B	0.20261	0.043	B	0.27170	0.077	T	0.22765	-1.0207	10	0.87932	D	0	-3.9055	10.8296	0.46652	1.0:0.0:0.0:0.0	.	224	Q9NWS0	PIHD1_HUMAN	A	224	ENSP00000262265:V224A	ENSP00000262265:V224A	V	-	2	0	PIH1D1	54642109	0.973000	0.33851	1.000000	0.80357	0.605000	0.37080	3.003000	0.49505	2.131000	0.65755	0.533000	0.62120	GTT		0.592	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2		NM_017916		102	47	0	0	0	0.00361	0	102	47		
ZSCAN5A	79149	broad.mit.edu	37	19	56733066	56733066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:56733066C>A	ENST00000587340.1	-	7	2064	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*	ZSCAN5A_ENST00000592355.1_Nonsense_Mutation_p.E456*|ZSCAN5A_ENST00000254165.3_Nonsense_Mutation_p.E340*|ZSCAN5A_ENST00000391713.1_Nonsense_Mutation_p.E457*|ZSCAN5A_ENST00000587492.1_Nonsense_Mutation_p.E311*			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	457					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E457*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGCTGGTGCTCCTTCAGGCTC	0.498																																						uc002qmq.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1369-1371)GAG>TAG		zinc finger and SCAN domain containing 5A							73.0	67.0	69.0					19																	56733066		2203	4300	6503	SO:0001587	stop_gained	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733066C>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1369G>T	19.37:g.56733066C>A	ENSP00000467631:p.Glu457*					ZSCAN5A_uc010ygi.1_Nonsense_Mutation_p.E340*|ZSCAN5A_uc002qmr.2_Nonsense_Mutation_p.E457*|ZSCAN5A_uc002qms.1_Nonsense_Mutation_p.E456*	p.E457*	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			5	1535	-			457			C2H2-type 4.		B4DX98|Q49A73|Q53F04|Q8N7B3	Nonsense_Mutation	SNP	ENST00000587340.1	37	c.1369G>T	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131846	0.77662	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	.	.	.	2.73	0.198	0.15168	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	2.3433	0.04265	0.2398:0.4661:0.0:0.2941	.	.	.	.	X	457;340	.	ENSP00000254165:E340X	E	-	1	0	ZSCAN5A	61424878	0.000000	0.05858	0.049000	0.19019	0.012000	0.07955	-0.868000	0.04236	0.488000	0.27723	0.491000	0.48974	GAG		0.498	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1		NM_024303		22	90	1	0	1.50039e-11	0.012319	1.64154e-11	22	90		
ZNF324	25799	broad.mit.edu	37	19	58982236	58982236	+	Missense_Mutation	SNP	G	G	C	rs145109076	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:58982236G>C	ENST00000536459.2	+	4	1086	c.377G>C	c.(376-378)cGg>cCg	p.R126P	ZNF324_ENST00000196482.3_Missense_Mutation_p.R126P|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R126P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGAGACAACGGGGTGCCTCC	0.607													g|||	8	0.00159744	0.0045	0.0014	5008	,	,		17867	0.001		0.0	False		,,,				2504	0.0					uc002qsw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(376-378)CGG>CCG		zinc finger protein 324		C	PRO/ARG	9,4397	14.3+/-33.2	0,9,2194	92.0	99.0	97.0		377	-5.4	0.0	19	dbSNP_134	97	0,8600		0,0,4300	no	missense	ZNF324	NM_014347.2	103	0,9,6494	CC,CG,GG		0.0,0.2043,0.0692	benign	126/554	58982236	9,12997	2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982236G>C	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.377G>C	19.37:g.58982236G>C	ENSP00000444812:p.Arg126Pro					ZNF324_uc002qsx.1_5'Flank	p.R126P	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	471	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	126					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.377G>C	CCDS12981.1	4	0.0018315018315018315	2	0.0040650406504065045	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	g	8.914	0.959471	0.18507	0.002043	0.0	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.05513	3.43;3.43	3.21	-5.37	0.02681	.	1.832110	0.03211	N	0.176143	T	0.04952	0.0133	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39623	-0.9605	10	0.20046	T	0.44	.	8.2756	0.31871	0.7246:0.1338:0.1416:0.0	.	126	O75467	Z324A_HUMAN	P	126;126;126;116	ENSP00000196482:R126P;ENSP00000444812:R126P	ENSP00000196482:R126P	R	+	2	0	ZNF324	63674048	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-1.719000	0.01873	-1.172000	0.02762	-0.371000	0.07208	CGG		0.607	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1		NM_014347		17	112	0	0	0	0.003954	0	17	112		
KIDINS220	57498	broad.mit.edu	37	2	8919858	8919858	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:8919858G>A	ENST00000256707.3	-	18	2497	c.2316C>T	c.(2314-2316)atC>atT	p.I772I	KIDINS220_ENST00000427284.1_Silent_p.I772I|KIDINS220_ENST00000319688.5_Silent_p.I773I|KIDINS220_ENST00000418530.1_Silent_p.I730I|KIDINS220_ENST00000473731.1_Silent_p.I772I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	772	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.I772I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCCATCGATGATGACCACCA	0.468																																						uc002qzc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(2314-2316)ATC>ATT		kinase D-interacting substrate of 220 kDa							102.0	100.0	101.0					2																	8919858		1988	4162	6150	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8919858G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2316C>T	2.37:g.8919858G>A						KIDINS220_uc010yiv.1_Silent_p.I538I|KIDINS220_uc002qzd.2_Silent_p.I730I|KIDINS220_uc010yiw.1_Silent_p.I773I	p.I772I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			18	2498	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		772			KAP NTPase.|Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.2316C>T	CCDS42650.1																																																																																				0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		NM_020738		21	36	0	0	0	0.012319	0	21	36		
CPSF3	51692	broad.mit.edu	37	2	9581956	9581956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:9581956C>T	ENST00000238112.3	+	9	1152	c.946C>T	c.(946-948)Cat>Tat	p.H316Y	CPSF3_ENST00000460593.1_Missense_Mutation_p.H279Y	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	316					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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.H316Y(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GAGCATGGATCATTTTGATGA	0.398																																					Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)	2						c.(946-948)CAT>TAT		cleavage and polyadenylation specific factor 3,							98.0	86.0	90.0					2																	9581956		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9581956C>T	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.946C>T	2.37:g.9581956C>T	ENSP00000238112:p.His316Tyr					CPSF3_uc010ewx.1_Missense_Mutation_p.H316Y|CPSF3_uc002qzp.1_Missense_Mutation_p.H279Y	p.H316Y	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	9	981	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	316					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.946C>T	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907733	0.72868	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000427001;ENST00000460593	T;T	0.41758	0.99;0.99	5.85	5.85	0.93711	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	L	0.36672	1.1	0.80722	D	1	B;B	0.19200	0.034;0.028	B;B	0.30855	0.017;0.121	T	0.15549	-1.0433	10	0.18710	T	0.47	-27.4744	20.2244	0.98337	0.0:1.0:0.0:0.0	.	316;316	E7ER23;Q9UKF6	.;CPSF3_HUMAN	Y	316;38;316;279	ENSP00000238112:H316Y;ENSP00000418957:H279Y	ENSP00000238112:H316Y	H	+	1	0	CPSF3	9499407	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.628000	0.83189	2.770000	0.95276	0.650000	0.86243	CAT		0.398	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1		NM_016207		40	42	0	0	0	0.006999	0	40	42		
ROCK2	9475	broad.mit.edu	37	2	11367379	11367379	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:11367379C>T	ENST00000315872.6	-	6	1317		c.e6+1		ROCK2_ENST00000401753.1_Splice_Site	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TATTTACTTACCCACTAGCAT	0.343																																						uc002rbd.1		NaN																	2	Unknown(2)		urinary_tract(2)	stomach(2)|skin(2)	4						c.e6+1		Rho-associated, coiled-coil containing protein							151.0	148.0	149.0					2																	11367379		1831	4088	5919	SO:0001630	splice_region_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11367379C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.868+1G>A	2.37:g.11367379C>T							p.G290_splice	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	6	1317	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)							Q53QZ0|Q53SJ7|Q9UQN5	Splice_Site	SNP	ENST00000315872.6	37	c.868_splice	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140174	0.77775	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	.	.	.	5.19	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8864	0.79251	0.0:0.8641:0.1359:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROCK2	11284830	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	1.277000	0.44412	0.585000	0.79938	.		0.343	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			Intron	32	137	0	0	0	0.009535	0	32	137		
NT5C1B	93034	broad.mit.edu	37	2	18764244	18764244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:18764244G>A	ENST00000359846.2	-	7	1168	c.1091C>T	c.(1090-1092)gCt>gTt	p.A364V	NT5C1B_ENST00000304081.4_Missense_Mutation_p.A304V|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.A364V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.A364V	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	364					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.A364V(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ACGGAGTCTAGCATTGACATA	0.473																																						uc002rcz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1090-1092)GCT>GTT		5' nucleotidase, cytosolic IB isoform 1							115.0	104.0	108.0					2																	18764244		2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18764244G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1091C>T	2.37:g.18764244G>A	ENSP00000352904:p.Ala364Val					NT5C1B_uc002rcy.2_Missense_Mutation_p.A364V|NT5C1B_uc010exr.2_Missense_Mutation_p.A306V|NT5C1B_uc010yju.1_Missense_Mutation_p.A304V|NT5C1B_uc002rda.2_Missense_Mutation_p.A304V|NT5C1B_uc010yjv.1_Missense_Mutation_p.A381V|NT5C1B_uc010yjw.1_Missense_Mutation_p.A347V|NT5C1B_uc010exs.2_Missense_Mutation_p.A366V	p.A364V	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			7	1195	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	364					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1091C>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314526	0.40996	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.90197	-2.63	6.13	2.2	0.27929	.	1.378580	0.04350	N	0.355421	D	0.91486	0.7312	M	0.69823	2.125	0.09310	N	1	P;B;P;B;P;P;B;P	0.41188	0.741;0.409;0.741;0.409;0.684;0.696;0.409;0.692	B;B;B;B;B;B;B;B	0.36666	0.216;0.216;0.216;0.216;0.197;0.138;0.216;0.23	T	0.79647	-0.1716	10	0.39692	T	0.17	-13.0089	20.2539	0.98412	0.0:0.5279:0.4721:0.0	.	347;381;304;347;306;304;364;364	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	V	364;306;304;364	ENSP00000412639:A306V	ENSP00000305979:A304V	A	-	2	0	NT5C1B-RDH14;NT5C1B	18627725	0.670000	0.27512	0.011000	0.14972	0.997000	0.91878	1.528000	0.35985	0.134000	0.18681	0.650000	0.86243	GCT		0.473	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1				22	36	0	0	0	0.002299	0	22	36		
NLRC4	58484	broad.mit.edu	37	2	32475710	32475710	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:32475710A>T	ENST00000404025.2	-	5	1711	c.1223T>A	c.(1222-1224)tTc>tAc	p.F408Y	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.F408Y|NLRC4_ENST00000402280.1_Missense_Mutation_p.F408Y			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	408	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.F408Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCAGTTCGAAATCAAACTT	0.473																																						uc002roi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(1222-1224)TTC>TAC		caspase recruitment domain protein 12							57.0	59.0	59.0					2																	32475710		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475710A>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1223T>A	2.37:g.32475710A>T	ENSP00000385090:p.Phe408Tyr					NLRC4_uc002roj.1_Missense_Mutation_p.F408Y|NLRC4_uc010ezt.1_Intron	p.F408Y	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	1469	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		408			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1223T>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957574	0.34565	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.11385	2.78;2.78;2.78	2.97	2.97	0.34412	.	0.000000	0.46758	D	0.000273	T	0.26340	0.0643	M	0.66939	2.045	0.32127	N	0.5873090000000001	D	0.63880	0.993	D	0.68192	0.956	T	0.34453	-0.9828	9	0.49607	T	0.09	.	10.4673	0.44616	1.0:0.0:0.0:0.0	.	408	Q9NPP4	NLRC4_HUMAN	Y	408	ENSP00000354159:F408Y;ENSP00000385428:F408Y;ENSP00000385090:F408Y	ENSP00000354159:F408Y	F	-	2	0	NLRC4	32329214	0.997000	0.39634	0.632000	0.29296	0.018000	0.09664	4.855000	0.62925	1.371000	0.46172	0.438000	0.28831	TTC		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2		NM_021209		23	9	0	0	0	0.00278	0	23	9		
BIRC6	57448	broad.mit.edu	37	2	32673877	32673877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:32673877G>A	ENST00000421745.2	+	22	4633	c.4499G>A	c.(4498-4500)aGc>aAc	p.S1500N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1500					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S1472N(1)|p.S1500N(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGATTATATAGCTCACCATTT	0.323																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4498-4500)AGC>AAC		baculoviral IAP repeat-containing 6							115.0	119.0	117.0					2																	32673877		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32673877G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4499G>A	2.37:g.32673877G>A	ENSP00000393596:p.Ser1500Asn						p.S1500N	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			22	4633	+	Acute lymphoblastic leukemia(172;0.155)		1500					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4499G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152289	0.57259	.	.	ENSG00000115760	ENST00000421745	T	0.73469	-0.75	5.61	5.61	0.85477	.	0.048684	0.85682	D	0.000000	T	0.51346	0.1669	N	0.05078	-0.115	0.45330	D	0.998323	B	0.33694	0.421	B	0.24006	0.05	T	0.55321	-0.8159	10	0.12103	T	0.63	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	1500	Q9NR09	BIRC6_HUMAN	N	1500	ENSP00000393596:S1500N	ENSP00000393596:S1500N	S	+	2	0	BIRC6	32527381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	AGC		0.323	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		24	91	0	0	0	0.003954	0	24	91		
MAP4K3	8491	broad.mit.edu	37	2	39487881	39487881	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:39487881A>G	ENST00000263881.3	-	29	2498	c.2174T>C	c.(2173-2175)tTt>tCt	p.F725S	MAP4K3_ENST00000341681.5_Missense_Mutation_p.F704S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.F278S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.F641S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	725	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.F725S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAGCATTTCAAACATTCTAAG	0.363																																						uc002rro.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(2173-2175)TTT>TCT		mitogen-activated protein kinase kinase kinase							77.0	75.0	76.0					2																	39487881		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39487881A>G	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2174T>C	2.37:g.39487881A>G	ENSP00000263881:p.Phe725Ser					MAP4K3_uc002rrp.2_Missense_Mutation_p.F704S|MAP4K3_uc010yns.1_Missense_Mutation_p.F278S	p.F725S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			29	2265	-		all_hematologic(82;0.211)	725			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2174T>C	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018083	0.75275	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000542094;ENST00000536018	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	4.98	4.98	0.66077	Citron-like (3);	0.046649	0.85682	D	0.000000	T	0.28863	0.0716	M	0.87180	2.865	0.80722	D	1	P;D	0.58620	0.554;0.983	P;D	0.69142	0.583;0.962	T	0.09707	-1.0662	10	0.87932	D	0	.	14.8351	0.70177	1.0:0.0:0.0:0.0	.	704;725	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	725;641;704;21;278	ENSP00000263881:F725S;ENSP00000416958:F641S;ENSP00000345434:F704S;ENSP00000440580:F278S	ENSP00000263881:F725S	F	-	2	0	MAP4K3	39341385	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.008000	0.93601	2.085000	0.62840	0.533000	0.62120	TTT		0.363	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2		NM_003618		17	45	0	0	0	0.007413	0	17	45		
CCDC88A	55704	broad.mit.edu	37	2	55544701	55544701	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:55544701G>A	ENST00000436346.1	-	20	4442	c.3601C>T	c.(3601-3603)Cgt>Tgt	p.R1201C	CCDC88A_ENST00000336838.6_Splice_Site_p.R1200C|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Splice_Site_p.R1200C|AC012358.8_ENST00000366287.4_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Splice_Site_p.R1201C	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1201					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.R1200C(1)|p.R1201C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATAAATTACCGGTCTTCAAGG	0.303																																						uc002ryv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(2)	4						c.(3598-3600)CGT>TGT		coiled-coil domain containing 88A isoform 1							39.0	44.0	43.0					2																	55544701		2199	4273	6472	SO:0001630	splice_region_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55544701G>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3602+1C>T	2.37:g.55544701G>A						CCDC88A_uc010yoz.1_Missense_Mutation_p.R1201C|CCDC88A_uc010ypa.1_Missense_Mutation_p.R1200C|CCDC88A_uc002ryu.2_Missense_Mutation_p.R483C|CCDC88A_uc002rys.2_Missense_Mutation_p.R186C|CCDC88A_uc002ryw.2_Missense_Mutation_p.R484C|CCDC88A_uc010fby.1_Missense_Mutation_p.R80C	p.R1200C	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			20	4440	-			1201			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3598C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.330748|4.330748	0.81690|0.81690	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;T;T;T	.|0.52526	.|2.22;2.46;2.45;0.66;2.23;1.21	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.44483	.|U	.|0.000452	T|T	0.65863|0.65863	0.2732|0.2732	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;P;D;D;D	.|0.67725	.|0.915;0.923;0.891;0.953;0.949;0.923	T|T	0.68036|0.68036	-0.5515|-0.5515	5|10	.|0.87932	.|D	.|0	-10.6166|-10.6166	13.2362|13.2362	0.59971|0.59971	0.0:0.0:0.7387:0.2613|0.0:0.0:0.7387:0.2613	.|.	.|1200;1201;1146;1201;1200;1200	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	L|C	181|1200;1201;1201;246;1200;376	.|ENSP00000338728:R1200C;ENSP00000263630:R1201C;ENSP00000410608:R1201C;ENSP00000390012:R246C;ENSP00000404431:R1200C;ENSP00000405080:R376C	.|ENSP00000263630:R1201C	P|R	-|-	2|1	0|0	CCDC88A|CCDC88A	55398205|55398205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.822000|6.822000	0.75277|0.75277	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.303	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571	Missense_Mutation	24	101	0	0	0	0.00333	0	24	101		
CTNNA2	1496	broad.mit.edu	37	2	80101245	80101245	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:80101245G>T	ENST00000402739.4	+	5	634	c.629G>T	c.(628-630)cGa>cTa	p.R210L	CTNNA2_ENST00000496558.1_Missense_Mutation_p.R210L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R244L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R210L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R210L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R210L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	210					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)	p.R210Q(2)|p.R210L(2)		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						GCAGCCGCCCGAGGGGCTCTG	0.512																																						uc010ysh.1		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(628-630)CGA>CTA		catenin, alpha 2 isoform 1							41.0	46.0	44.0					2																	80101245		2026	4187	6213	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.chr2:80101245G>T		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.629G>T	2.37:g.80101245G>T	ENSP00000384638:p.Arg210Leu					CTNNA2_uc010yse.1_Missense_Mutation_p.R210L|CTNNA2_uc010ysf.1_Missense_Mutation_p.R210L|CTNNA2_uc010ysg.1_Missense_Mutation_p.R210L	p.R210L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	634	+			210					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.629G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.235572	0.95240	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	T	0.70360	0.3215	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	T	0.73528	-0.3954	10	0.38643	T	0.18	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	210;210;210	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	210;210;244;210;210;210	ENSP00000418191:R210L;ENSP00000419295:R210L;ENSP00000355398:R244L;ENSP00000384638:R210L;ENSP00000444675:R210L;ENSP00000441705:R210L	ENSP00000355398:R244L	R	+	2	0	CTNNA2	79954753	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	9.869000	0.99810	2.693000	0.91896	0.650000	0.86243	CGA		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389		8	39	1	0	0.000157383	0.00308	0.000163637	8	39		
IFIH1	64135	broad.mit.edu	37	2	163136571	163136571	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:163136571C>A	ENST00000263642.2	-	8	1971	c.1576G>T	c.(1576-1578)Gat>Tat	p.D526Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	526					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.D526Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTCAGTTGATCAAGGTTTTCT	0.328																																						uc002uce.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1576-1578)GAT>TAT		interferon induced with helicase C domain 1							124.0	117.0	119.0					2																	163136571		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163136571C>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1576G>T	2.37:g.163136571C>A	ENSP00000263642:p.Asp526Tyr						p.D526Y	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			8	1798	-			526					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.1576G>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658692	0.29515	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05025	3.51	5.4	-2.69	0.06022	DEAD-like helicase (1);	1.715750	0.02511	N	0.091536	T	0.07279	0.0184	L	0.43923	1.385	0.09310	N	1	B	0.30281	0.275	B	0.30495	0.116	T	0.40720	-0.9548	10	0.62326	D	0.03	-2.0E-4	6.4152	0.21712	0.2392:0.4509:0.0:0.3099	.	526	Q9BYX4	IFIH1_HUMAN	Y	526	ENSP00000263642:D526Y	ENSP00000263642:D526Y	D	-	1	0	IFIH1	162844817	0.000000	0.05858	0.000000	0.03702	0.877000	0.50540	-1.490000	0.02304	-0.404000	0.07610	0.655000	0.94253	GAT		0.328	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2		NM_022168		32	40	1	0	2.80507e-11	0.012213	3.05831e-11	32	40		
LRP2	4036	broad.mit.edu	37	2	170062610	170062610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:170062610C>G	ENST00000263816.3	-	40	7764	c.7479G>C	c.(7477-7479)atG>atC	p.M2493I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2493					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.M2493I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATCTTCAGCCATGGAATTAA	0.448																																						uc002ues.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7477-7479)ATG>ATC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						152.0	144.0	147.0					2																	170062610		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062610C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7479G>C	2.37:g.170062610C>G	ENSP00000263816:p.Met2493Ile						p.M2493I	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7692	-			2493			LDL-receptor class B 26.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7479G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951597	0.34471	.	.	ENSG00000081479	ENST00000263816	D	0.90133	-2.62	6.17	1.0	0.19881	Six-bladed beta-propeller, TolB-like (1);	0.178923	0.64402	N	0.000001	T	0.81384	0.4811	L	0.31664	0.95	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.67444	-0.5669	10	0.24483	T	0.36	.	7.7902	0.29116	0.3464:0.5356:0.0:0.118	.	2493	P98164	LRP2_HUMAN	I	2493	ENSP00000263816:M2493I	ENSP00000263816:M2493I	M	-	3	0	LRP2	169770856	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	2.715000	0.47210	0.142000	0.18901	-0.140000	0.14226	ATG		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		42	60	0	0	0	0.009718	0	42	60		
GAD1	2571	broad.mit.edu	37	2	171700564	171700564	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:171700564T>A	ENST00000358196.3	+	7	1198	c.648T>A	c.(646-648)taT>taA	p.Y216*	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	216					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.Y216*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GGTTTACATATGAAATTGCAC	0.353																																						uc002ugi.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(646-648)TAT>TAA		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						159.0	159.0	159.0					2																	171700564		2203	4300	6503	SO:0001587	stop_gained	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171700564T>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.648T>A	2.37:g.171700564T>A	ENSP00000350928:p.Tyr216*						p.Y216*	NM_000817	NP_000808	Q99259	DCE1_HUMAN			7	1070	+			216					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Nonsense_Mutation	SNP	ENST00000358196.3	37	c.648T>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	T	43	10.430372	0.99403	.	.	ENSG00000128683	ENST00000358196	.	.	.	6.17	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0727	10.4063	0.44258	0.0:0.1302:0.0:0.8698	.	.	.	.	X	216	.	ENSP00000350928:Y216X	Y	+	3	2	GAD1	171408810	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.227000	0.32576	0.580000	0.29522	0.533000	0.62120	TAT		0.353	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2				14	33	0	0	0	0.00245	0	14	33		
TTN	7273	broad.mit.edu	37	2	179566962	179566962	+	Silent	SNP	C	C	T	rs367901929		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:179566962C>T	ENST00000591111.1	-	106	29717	c.29493G>A	c.(29491-29493)tcG>tcA	p.S9831S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.S8904S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.S10148S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13909	Ig-like 79.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S8904S(1)		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)			GAGCGATGACCGAGTAGACAC	0.448													c|||	1	0.000199681	0.0	0.0	5008	,	,		17869	0.0		0.0	False		,,,				2504	0.001					uc010zfg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	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.(26710-26712)TCG>TCA		titin isoform N2-A		T	,,,	0,3900		0,0,1950	89.0	89.0	89.0		,26712,,	-11.4	0.4	2		89	1,8269		0,1,4134	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6084	TT,TC,CC		0.0121,0.0,0.0082	,,,	,8904/33424,,	179566962	1,12169	1950	4135	6085	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179566962C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29493G>A	2.37:g.179566962C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S5565S|TTN_uc010fre.1_Silent_p.S15S	p.S8904S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		105	26936	-			9831					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	Silent	SNP	ENST00000591111.1	37	c.26712G>A																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	21	0	0	0	0.00308	0	6	21		
NIF3L1	60491	broad.mit.edu	37	2	201760010	201760010	+	Missense_Mutation	SNP	G	G	A	rs377683187		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:201760010G>A	ENST00000409020.1	+	4	917	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	NIF3L1_ENST00000359683.4_Missense_Mutation_p.R181Q|NIF3L1_ENST00000416651.1_Missense_Mutation_p.R208Q|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R208Q|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R208Q			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	208					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.R208Q(1)|p.R181Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GAACAAACACGGATTAATCTG	0.383																																						uc002uwm.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(622-624)CGG>CAG		NIF3 NGG1 interacting factor 3-like 1 isoform 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3670		0,0,1835	143.0	130.0	134.0		623,542,623,542	4.6	0.2	2		134	1,8169		0,1,4084	no	missense,missense,missense,missense	NIF3L1	NM_001136039.2,NM_001142355.1,NM_001142356.1,NM_021824.3	43,43,43,43	0,1,5919	AA,AG,GG		0.0122,0.0,0.0084	benign,benign,benign,benign	208/378,181/351,208/286,181/351	201760010	1,11839	1835	4085	5920	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201760010G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.623G>A	2.37:g.201760010G>A	ENSP00000386394:p.Arg208Gln					NIF3L1_uc002uwl.2_Missense_Mutation_p.R181Q|NIF3L1_uc002uwn.2_Missense_Mutation_p.R181Q|NIF3L1_uc002uwo.2_Missense_Mutation_p.R208Q|NIF3L1_uc002uwp.2_Missense_Mutation_p.R208Q|NIF3L1_uc002uwq.2_Missense_Mutation_p.R208Q	p.R208Q	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			4	714	+			208					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.623G>A	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554477	0.86231	0.0	1.22E-4	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000374679;ENST00000409588	T;T;T;T;T;T	0.46819	1.03;0.86;0.86;0.86;0.86;1.03	5.47	4.58	0.56647	.	0.134083	0.53938	D	0.000043	T	0.41696	0.1170	L	0.56396	1.775	0.34404	D	0.695646	B;B	0.30439	0.137;0.279	B;B	0.24394	0.027;0.053	T	0.54523	-0.8281	10	0.37606	T	0.19	-12.5832	12.3163	0.54958	0.0787:0.0:0.9213:0.0	.	208;208	Q6X735;Q9GZT8	.;NIF3L_HUMAN	Q	181;208;208;181;208;208;208	ENSP00000412761:R181Q;ENSP00000400787:R208Q;ENSP00000386394:R208Q;ENSP00000352711:R181Q;ENSP00000387315:R208Q;ENSP00000387021:R208Q	ENSP00000352711:R181Q	R	+	2	0	NIF3L1	201468255	0.872000	0.30054	0.247000	0.24249	0.925000	0.55904	2.652000	0.46682	2.723000	0.93209	0.655000	0.94253	CGG		0.383	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1		NM_021824		18	155	0	0	0	0.008871	0	18	155		
UGT1A1	54658	broad.mit.edu	37	2	234669219	234669219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:234669219G>C	ENST00000608383.1	+	1	286	c.286G>C	c.(286-288)Ggg>Cgg	p.G96R	UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.G96R|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.G96R|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	96					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.G96R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGTTAGTCTCGGGCATAATGT	0.428																																						uc002vvb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(286-288)GGG>CGG		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						148.0	143.0	145.0					2																	234669219		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669219G>C	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.286G>C	2.37:g.234669219G>C	ENSP00000476741:p.Gly96Arg					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.G96R	p.G96R	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	301	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	96					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.286G>C	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413813	0.25465	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.61274	0.12;0.12	6.07	5.02	0.67125	.	.	.	.	.	T	0.62672	0.2447	L	0.58583	1.82	0.09310	N	1	B;B	0.27932	0.194;0.029	B;B	0.41236	0.351;0.055	T	0.53704	-0.8401	9	0.23302	T	0.38	.	15.1557	0.72739	0.1161:0.0:0.8839:0.0	.	96;96	A6NJC3;P22309	.;UD11_HUMAN	R	96	ENSP00000304845:G96R;ENSP00000353593:G96R	ENSP00000304845:G96R	G	+	1	0	UGT1A1	234333958	0.367000	0.25023	0.856000	0.33681	0.303000	0.27691	2.145000	0.42207	2.890000	0.99128	0.650000	0.86243	GGG		0.428	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding					67	137	0	0	0	0.00361	0	67	137		
UGT1A1	54658	broad.mit.edu	37	2	234669236	234669236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:234669236G>T	ENST00000608383.1	+	1	303	c.303G>T	c.(301-303)gaG>gaT	p.E101D	UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.E101D|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.E101D|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	101					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.E101D(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	ATGTTTTTGAGAATGATTCTT	0.423																																						uc002vvb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(301-303)GAG>GAT		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						131.0	131.0	131.0					2																	234669236		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669236G>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.303G>T	2.37:g.234669236G>T	ENSP00000476741:p.Glu101Asp					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.E101D	p.E101D	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	318	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	101					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.303G>T	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	G	5.411	0.260944	0.10239	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.60672	0.17;0.17	6.07	0.926	0.19430	.	.	.	.	.	T	0.42832	0.1220	L	0.42529	1.33	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.012	T	0.27434	-1.0074	9	0.19147	T	0.46	.	5.3643	0.16105	0.1909:0.0:0.3222:0.487	.	101;101	A6NJC3;P22309	.;UD11_HUMAN	D	101	ENSP00000304845:E101D;ENSP00000353593:E101D	ENSP00000304845:E101D	E	+	3	2	UGT1A1	234333975	0.000000	0.05858	0.034000	0.17996	0.117000	0.20001	0.069000	0.14552	0.090000	0.17273	0.650000	0.86243	GAG		0.423	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding					98	83	1	0	1.7318e-42	0.00361	1.96312e-42	98	83		
TGM3	7053	broad.mit.edu	37	20	2315885	2315885	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:2315885A>T	ENST00000381458.5	+	11	1829	c.1766A>T	c.(1765-1767)gAc>gTc	p.D589V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	589					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.D589V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GTGGAGCGGGACATCATCCTG	0.602																																						uc002wfx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1765-1767)GAC>GTC		transglutaminase 3 precursor	L-Glutamine(DB00130)						160.0	127.0	138.0					20																	2315885		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2315885A>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1766A>T	20.37:g.2315885A>T	ENSP00000370867:p.Asp589Val						p.D589V	NM_003245	NP_003236	Q08188	TGM3_HUMAN			11	1863	+			589					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1766A>T	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569603	0.28003	.	.	ENSG00000125780	ENST00000381458	T	0.68765	-0.35	5.13	4.0	0.46444	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.162704	0.53938	D	0.000056	T	0.74412	0.3713	L	0.55834	1.745	0.58432	D	0.999994	D	0.76494	0.999	D	0.66979	0.948	T	0.74355	-0.3692	10	0.72032	D	0.01	0.3653	9.3862	0.38345	0.8401:0.0:0.0:0.1599	.	589	Q08188	TGM3_HUMAN	V	589	ENSP00000370867:D589V	ENSP00000370867:D589V	D	+	2	0	TGM3	2263885	0.073000	0.21202	0.241000	0.24154	0.614000	0.37383	1.423000	0.34837	0.742000	0.32697	0.459000	0.35465	GAC		0.602	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2		NM_003245		8	64	0	0	0	0.004482	0	8	64		
ZNFX1	57169	broad.mit.edu	37	20	47888256	47888256	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:47888256A>G	ENST00000396105.1	-	3	339	c.93T>C	c.(91-93)gcT>gcC	p.A31A	ZNFX1_ENST00000371752.1_Silent_p.A31A|ZNFX1_ENST00000371754.4_Silent_p.A31A	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	31							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A31A(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTGATTTCTAGCTCTTGGTG	0.507																																						uc002xui.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)	2						c.(91-93)GCT>GCC		zinc finger, NFX1-type containing 1							96.0	91.0	93.0					20																	47888256		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47888256A>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.93T>C	20.37:g.47888256A>G							p.A31A	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	340	-			31					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.93T>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	6.539	0.467676	0.12402	.	.	ENSG00000124201	ENST00000537431	.	.	.	6.03	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0957	0.06308	0.5827:0.0:0.1779:0.2394	.	.	.	.	.	-1	.	.	.	-	.	.	ZNFX1	47321663	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.533000	0.23082	1.094000	0.41399	0.533000	0.62120	.		0.507	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035		29	37	0	0	0	0.008361	0	29	37		
ZNF217	7764	broad.mit.edu	37	20	52192283	52192283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:52192283G>A	ENST00000371471.2	-	4	3445	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	ZNF217_ENST00000302342.3_Missense_Mutation_p.S1007F|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	1007					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S1007F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGTCGAGCTGGATGCTGGACT	0.517																																						uc002xwq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(3019-3021)TCC>TTC		zinc finger protein 217							52.0	50.0	51.0					20																	52192283		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192283G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.3020C>T	20.37:g.52192283G>A	ENSP00000360526:p.Ser1007Phe					ZNF217_uc010gij.1_Missense_Mutation_p.S999F	p.S1007F	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		3	3291	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		1007					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.3020C>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448012	0.26074	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.09911	2.93;2.93	4.57	2.56	0.30785	.	2.796770	0.01242	N	0.008625	T	0.11110	0.0271	L	0.34521	1.04	0.09310	N	1	P	0.45283	0.855	B	0.38327	0.271	T	0.34004	-0.9846	10	0.87932	D	0	-7.54	8.289	0.31946	0.0873:0.1553:0.7574:0.0	.	1007	O75362	ZN217_HUMAN	F	1007;1007;95;167	ENSP00000360526:S1007F;ENSP00000304308:S1007F	ENSP00000304308:S1007F	S	-	2	0	ZNF217	51625690	0.047000	0.20315	0.000000	0.03702	0.002000	0.02628	2.083000	0.41615	0.338000	0.23692	-0.157000	0.13467	TCC		0.517	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2		NM_006526		16	36	0	0	0	0.003163	0	16	36		
PPP1R3D	5509	broad.mit.edu	37	20	58514308	58514308	+	Missense_Mutation	SNP	C	C	T	rs374884643		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:58514308C>T	ENST00000370996.3	-	1	1044	c.679G>A	c.(679-681)Gca>Aca	p.A227T	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	227	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.A227T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TCGGGGCCTGCGGGCCCGCGC	0.692																																						uc002ybb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)		0						c.(679-681)GCA>ACA		protein phosphatase 1, regulatory subunit 3D		C	,THR/ALA	0,4402		0,0,2201	33.0	35.0	34.0		,679	3.5	0.0	20		34	1,8597	1.2+/-3.3	0,1,4298	no	intron,missense	PPP1R3D,C20orf177	NM_001190826.1,NM_006242.3	,58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,227/300	58514308	1,12999	2201	4299	6500	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514308C>T	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.679G>A	20.37:g.58514308C>T	ENSP00000360035:p.Ala227Thr					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.A227T	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	1045	-	all_lung(29;0.00391)		227			CBM21.		Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.679G>A	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045423	0.36085	0.0	1.16E-4	ENSG00000132825	ENST00000370996	T	0.63417	-0.04	3.49	3.49	0.39957	Putative phosphatase regulatory subunit (2);	0.943478	0.08678	N	0.909851	T	0.54143	0.1840	L	0.33624	1.015	0.09310	N	1	D	0.58620	0.983	P	0.47299	0.543	T	0.33777	-0.9855	10	0.15066	T	0.55	-4.3168	10.4722	0.44644	0.0:0.8904:0.0:0.1096	.	227	O95685	PPR3D_HUMAN	T	227	ENSP00000360035:A227T	ENSP00000360035:A227T	A	-	1	0	PPP1R3D	57947703	0.957000	0.32711	0.027000	0.17364	0.202000	0.24057	5.500000	0.66943	2.257000	0.74773	0.462000	0.41574	GCA		0.692	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2		NM_006242		12	34	0	0	0	0.003163	0	12	34		
ADRM1	11047	broad.mit.edu	37	20	60883123	60883123	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:60883123C>T	ENST00000253003.2	+	8	949	c.903C>T	c.(901-903)ctC>ctT	p.L301L	LAMA5_ENST00000492698.1_5'UTR|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	301					positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)	p.L301L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CTCCCATCCTCGCCAACGCGG	0.627																																						uc002ycn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(901-903)CTC>CTT		adhesion regulating molecule 1 precursor							58.0	50.0	53.0					20																	60883123		2197	4294	6491	SO:0001819	synonymous_variant	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60883123C>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.903C>T	20.37:g.60883123C>T						ADRM1_uc002yco.2_Silent_p.L301L	p.L301L	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		8	983	+	Breast(26;7.76e-09)		301					A0PKB1|Q96FJ7|Q9H1P2	Silent	SNP	ENST00000253003.2	37	c.903C>T	CCDS13496.1																																																																																				0.627	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1				9	11	0	0	0	0.004482	0	9	11		
MRGBP	55257	broad.mit.edu	37	20	61428545	61428545	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:61428545T>G	ENST00000370487.3	+	2	303	c.232T>G	c.(232-234)Tgg>Ggg	p.W78G		NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	78					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.W78G(1)									CAAGGTCATCTGGGACCATCT	0.622																																						uc002ydi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(232-234)TGG>GGG		MRG-binding protein							88.0	68.0	75.0					20																	61428545		2201	4300	6501	SO:0001583	missense	55257				chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		g.chr20:61428545T>G	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"""chromosome 20 open reading frame 20"""	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.232T>G	20.37:g.61428545T>G	ENSP00000359518:p.Trp78Gly						p.W78G	NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN			2	303	+	Breast(26;3.65e-08)		78					A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	c.232T>G	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610359	0.87258	.	.	ENSG00000101189	ENST00000370487	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.89353	3.025	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	D	0.84544	0.0640	9	0.87932	D	0	-11.5058	13.733	0.62799	0.0:0.0:0.0:1.0	.	78	Q9NV56	MRGBP_HUMAN	G	78	.	ENSP00000359518:W78G	W	+	1	0	C20orf20	60898990	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.781000	0.75068	1.641000	0.50575	0.443000	0.29094	TGG		0.622	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1		NM_018270		9	46	0	0	0	0.008291	0	9	46		
CRYZL1	9946	broad.mit.edu	37	21	34994369	34994369	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr21:34994369C>T	ENST00000381554.3	-	4	235	c.150G>A	c.(148-150)ctG>ctA	p.L50L	CRYZL1_ENST00000413017.2_Silent_p.L50L|CRYZL1_ENST00000290244.5_Silent_p.L50L|CRYZL1_ENST00000445393.1_Silent_p.L50L|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381540.3_Silent_p.L50L|CRYZL1_ENST00000361534.2_Silent_p.L74L	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	50					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)	p.L50L(1)		lung(1)|prostate(1)|urinary_tract(1)	3						TCATTTCTGCCAGAAGCTAAA	0.338																																						uc011adw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(148-150)CTG>CTA		crystallin, zeta-like 1							74.0	78.0	76.0					21																	34994369		2202	4298	6500	SO:0001819	synonymous_variant	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34994369C>T	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.150G>A	21.37:g.34994369C>T						DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Silent_p.L74L|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Silent_p.L50L	p.L50L	NM_145858	NP_665857	O95825	QORL1_HUMAN			4	330	-			50					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Silent	SNP	ENST00000381554.3	37	c.150G>A	CCDS13633.2																																																																																				0.338	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2		NM_145858		50	90	0	0	0	0.00361	0	50	90		
B3GALT5	10317	broad.mit.edu	37	21	41032664	41032664	+	Missense_Mutation	SNP	G	G	C	rs146778477	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr21:41032664G>C	ENST00000380620.4	+	5	770	c.178G>C	c.(178-180)Gtc>Ctc	p.V60L	B3GALT5_ENST00000398714.2_Missense_Mutation_p.V60L|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V60L|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V60L			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	60					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.V60L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCCTTCCTCGTCCTGCTGGT	0.522																																						uc002yyb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(178-180)GTC>CTC		UDP-Gal:betaGlcNAc beta							77.0	69.0	72.0					21																	41032664		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41032664G>C	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.178G>C	21.37:g.41032664G>C	ENSP00000369994:p.Val60Leu					B3GALT5_uc002yye.2_Missense_Mutation_p.V60L|B3GALT5_uc002yyi.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyj.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyk.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyl.1_Missense_Mutation_p.V60L|B3GALT5_uc002yym.1_Missense_Mutation_p.V60L	p.V60L	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN			5	770	+		Prostate(19;2.55e-06)	60			Lumenal (Potential).		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.178G>C	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933544	0.34096	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.89	1.84	0.25277	.	0.322749	0.25151	N	0.032745	T	0.25865	0.0630	M	0.71581	2.175	0.37297	D	0.908516	B	0.31241	0.315	B	0.26517	0.07	T	0.13361	-1.0512	10	0.12103	T	0.63	.	8.7975	0.34887	0.1295:0.2689:0.6016:0.0	.	60	Q9Y2C3	B3GT5_HUMAN	L	60	ENSP00000369994:V60L;ENSP00000369992:V60L;ENSP00000343318:V60L;ENSP00000381699:V60L	ENSP00000343318:V60L	V	+	1	0	B3GALT5	39954534	0.987000	0.35691	0.564000	0.28396	0.059000	0.15707	1.896000	0.39789	0.311000	0.23014	0.655000	0.94253	GTC		0.522	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2		NM_033170		12	113	0	0	0	0.010729	0	12	113		
ARVCF	421	broad.mit.edu	37	22	19961220	19961220	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:19961220C>T	ENST00000263207.3	-	13	2476	c.2185G>A	c.(2185-2187)Gtc>Atc	p.V729I	ARVCF_ENST00000344269.3_Missense_Mutation_p.V666I|ARVCF_ENST00000401994.1_Missense_Mutation_p.V666I|ARVCF_ENST00000406259.1_Missense_Mutation_p.V723I|ARVCF_ENST00000406522.1_Missense_Mutation_p.V660I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	729					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V729I(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCGATGGCGACGGCGCGCACC	0.662																																						uc002zqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)	1						c.(2185-2187)GTC>ATC		armadillo repeat protein							94.0	76.0	82.0					22																	19961220		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19961220C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2185G>A	22.37:g.19961220C>T	ENSP00000263207:p.Val729Ile					ARVCF_uc002zqy.2_Missense_Mutation_p.V245I	p.V729I	NM_001670	NP_001661	O00192	ARVC_HUMAN			13	2456	-	Colorectal(54;0.0993)		729			ARM 8.		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2185G>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480883	0.84747	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.061993	0.64402	D	0.000005	T	0.63034	0.2477	M	0.76002	2.32	0.80722	D	1	P;D	0.76494	0.644;0.999	B;P	0.56042	0.339;0.79	T	0.65792	-0.6082	9	.	.	.	-24.6153	16.8567	0.86008	0.0:1.0:0.0:0.0	.	729;245	O00192;E7EV58	ARVC_HUMAN;.	I	729;666;666;660;723	ENSP00000263207:V729I;ENSP00000342042:V666I;ENSP00000384341:V666I;ENSP00000384732:V660I;ENSP00000385444:V723I	.	V	-	1	0	ARVCF	18341220	0.868000	0.29978	0.086000	0.20670	0.442000	0.32017	4.704000	0.61831	2.579000	0.87056	0.491000	0.48974	GTC		0.662	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5		NM_001670		20	150	0	0	0	0.010504	0	20	150		
MYH9	4627	broad.mit.edu	37	22	36697582	36697582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:36697582G>A	ENST00000216181.5	-	21	2859	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	877					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.Q877*(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACACCCACCTGAGACTGCAGC	0.607			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Nonsense(1)		urinary_tract(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(2629-2631)CAG>TAG		myosin, heavy polypeptide 9, non-muscle							147.0	98.0	115.0					22																	36697582		2202	4300	6502	SO:0001587	stop_gained	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36697582G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2629C>T	22.37:g.36697582G>A	ENSP00000216181:p.Gln877*		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864	MYH9_uc003aph.1_Nonsense_Mutation_p.Q741*	p.Q877*	NM_002473	NP_002464	P35579	MYH9_HUMAN			21	2860	-			877			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	ENST00000216181.5	37	c.2629C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	43	9.893875	0.99289	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	.	.	.	6.08	6.08	0.98989	.	0.061998	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	741;877	.	ENSP00000216181:Q877X	Q	-	1	0	MYH9	35027528	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	9.697000	0.98697	2.894000	0.99253	0.655000	0.94253	CAG		0.607	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		22	56	0	0	0	0.005443	0	22	56		
EP300	2033	broad.mit.edu	37	22	41553195	41553195	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	WGS			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41553195G>T	ENST00000263253.7	+	18	4503	c.3284G>T	c.(3283-3285)aGc>aTc	p.S1095I		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1095	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.S1095I(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATTGTGAAGAGCCCCATGGAT	0.393			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3283-3285)AGC>ATC		E1A binding protein p300							85.0	81.0	83.0					22																	41553195		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41553195G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3284G>T	22.37:g.41553195G>T	ENSP00000263253:p.Ser1095Ile						p.S1095I	NM_001429	NP_001420	Q09472	EP300_HUMAN			18	3679	+			1095			Bromo.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3284G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952062	0.53293	.	.	ENSG00000100393	ENST00000263253	T	0.30714	1.52	5.7	4.68	0.58851	Bromodomain (6);Bromodomain, conserved site (1);	0.216590	0.31472	N	0.007588	T	0.19406	0.0466	L	0.29908	0.895	0.37617	D	0.921175	B	0.11235	0.004	B	0.09377	0.004	T	0.14783	-1.0460	10	0.59425	D	0.04	-1.6598	3.4859	0.07619	0.1044:0.1661:0.5578:0.1717	.	1095	Q09472	EP300_HUMAN	I	1095	ENSP00000263253:S1095I	ENSP00000263253:S1095I	S	+	2	0	EP300	39883141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.416000	0.52707	1.378000	0.46305	0.655000	0.94253	AGC		0.393	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		19	29	1	0	2.94398e-08	0.007413	3.17667e-08	19	29		
POLR3H	171568	broad.mit.edu	37	22	41928097	41928097	+	Splice_Site	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41928097C>A	ENST00000355209.4	-	4	703		c.e4+1		POLR3H_ENST00000407461.1_Splice_Site|POLR3H_ENST00000337566.5_Splice_Site|POLR3H_ENST00000396504.2_Splice_Site|POLR3H_ENST00000420561.1_5'Flank	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.?(2)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TTGGAGGATACAACTTGGCTG	0.557																																						uc003baf.2		NaN																	2	Unknown(2)		urinary_tract(2)	skin(1)	1						c.e5+1		polymerase (RNA) III (DNA directed) polypeptide							99.0	77.0	84.0					22																	41928097		2203	4300	6503	SO:0001630	splice_region_variant	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41928097C>A	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.359+1G>T	22.37:g.41928097C>A						POLR3H_uc003bae.2_Splice_Site|POLR3H_uc003bag.2_Splice_Site_p.F120_splice|POLR3H_uc003bai.2_Splice_Site_p.F91_splice	p.F120_splice	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN			5	419	-								B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Splice_Site	SNP	ENST00000355209.4	37	c.359_splice	CCDS14018.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915971	0.92178	.	.	ENSG00000100413	ENST00000396504;ENST00000355209;ENST00000337566;ENST00000407461	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4486	0.90695	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLR3H	40258043	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.629000	0.83207	2.602000	0.87976	0.650000	0.86243	.		0.557	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1		NM_138338	Intron	22	28	1	0	1.04121e-07	0.005443	1.11584e-07	22	28		
PMM1	5372	broad.mit.edu	37	22	41980552	41980552	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41980552G>A	ENST00000216259.7	-	3	345	c.261C>T	c.(259-261)caC>caT	p.H87H	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	87					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)	p.H87H(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GCAGTCGTCCGTGCTTATACT	0.552																																						uc003bal.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(259-261)CAC>CAT		phosphomannomutase 1							93.0	87.0	89.0					22																	41980552		2203	4300	6503	SO:0001819	synonymous_variant	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980552G>A		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.261C>T	22.37:g.41980552G>A							p.H87H	NM_002676	NP_002667	Q92871	PMM1_HUMAN			3	323	-			87					A8K003|Q92586	Silent	SNP	ENST00000216259.7	37	c.261C>T	CCDS14020.1																																																																																				0.552	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3		NM_002676		51	36	0	0	0	0.00361	0	51	36		
MOV10L1	54456	broad.mit.edu	37	22	50563824	50563824	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:50563824C>T	ENST00000262794.5	+	11	1656	c.1573C>T	c.(1573-1575)Ctg>Ttg	p.L525L	MOV10L1_ENST00000545383.1_Silent_p.L525L|MOV10L1_ENST00000540615.1_Silent_p.L505L|MOV10L1_ENST00000395858.3_Silent_p.L525L|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	525					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.L525L(1)|p.L505L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTTCCAGCTTCTGAACATGTC	0.438																																						uc003bjj.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(1573-1575)CTG>TTG		MOV10-like 1 isoform 1							96.0	98.0	98.0					22																	50563824		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50563824C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1573C>T	22.37:g.50563824C>T						MOV10L1_uc003bjk.3_Silent_p.L525L|MOV10L1_uc011arp.1_Silent_p.L505L|MOV10L1_uc011arq.1_Silent_p.L286L|MOV10L1_uc010hao.1_RNA	p.L525L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	11	1656	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	525					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.1573C>T	CCDS14084.1																																																																																				0.438	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2		NM_018995		34	11	0	0	0	0.004878	0	34	11		
EMC3	55831	broad.mit.edu	37	3	10012301	10012301	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:10012301C>G	ENST00000245046.2	-	6	997	c.539G>C	c.(538-540)cGg>cCg	p.R180P	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	180						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.R180P(1)									GTAAATGCTCCGAAGCCCAAA	0.403																																						uc003bun.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(538-540)CGG>CCG		transmembrane protein 111							129.0	127.0	128.0					3																	10012301		2203	4300	6503	SO:0001583	missense	55831					integral to membrane		g.chr3:10012301C>G	AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.539G>C	3.37:g.10012301C>G	ENSP00000245046:p.Arg180Pro					CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Missense_Mutation_p.R180P	p.R180P	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN			6	718	-			180					B2R4Z9|Q53GH8|Q6ZMC2	Missense_Mutation	SNP	ENST00000245046.2	37	c.539G>C	CCDS2594.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108293	0.94292	.	.	ENSG00000125037	ENST00000245046	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88629	0.3168	9	0.66056	D	0.02	.	17.7921	0.88555	0.0:1.0:0.0:0.0	.	180;180	Q9P0I2-2;Q9P0I2	.;TM111_HUMAN	P	180	.	ENSP00000245046:R180P	R	-	2	0	TMEM111	9987301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.802000	0.96397	0.655000	0.94253	CGG		0.403	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1		NM_018447		206	82	0	0	0	0.00361	0	206	82		
NR2C2	7182	broad.mit.edu	37	3	15062406	15062406	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:15062406A>G	ENST00000425241.1	+	5	885	c.523A>G	c.(523-525)Aaa>Gaa	p.K175E	NR2C2_ENST00000393102.3_Missense_Mutation_p.K175E|NR2C2_ENST00000323373.6_Missense_Mutation_p.K194E|NR2C2_ENST00000406272.2_Missense_Mutation_p.K175E			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	175					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|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)	p.K194E(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGCCGGCTGAAAAAATGCTT	0.408																																						uc003bzj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(523-525)AAA>GAA		nuclear receptor subfamily 2, group C, member 2							90.0	85.0	87.0					3																	15062406		2203	4300	6503	SO:0001583	missense	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15062406A>G	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.523A>G	3.37:g.15062406A>G	ENSP00000388387:p.Lys175Glu					NR2C2_uc003bzi.2_Missense_Mutation_p.K194E	p.K175E	NM_003298	NP_003289	P49116	NR2C2_HUMAN			5	740	+			175			NR C4-type.|Nuclear receptor.		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37	c.523A>G		.	.	.	.	.	.	.	.	.	.	A	18.15	3.558850	0.65538	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	5.78	4.63	0.57726	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.084142	0.85682	D	0.000000	D	0.95658	0.8588	M	0.66378	2.025	0.53005	D	0.999966	B;P	0.37061	0.07;0.58	B;B	0.37550	0.118;0.253	D	0.94404	0.7625	10	0.56958	D	0.05	.	12.0226	0.53352	0.9325:0.0:0.0675:0.0	.	175;194	P49116;F2YGU2	NR2C2_HUMAN;.	E	175;194;175;194;175	ENSP00000388387:K175E;ENSP00000320447:K194E;ENSP00000376814:K175E;ENSP00000401807:K194E;ENSP00000384463:K175E	ENSP00000320447:K194E	K	+	1	0	NR2C2	15037410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.853000	0.55941	1.128000	0.42052	0.482000	0.46254	AAA		0.408	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1		NM_003298		14	44	0	0	0	0.00499	0	14	44		
ANKRD28	23243	broad.mit.edu	37	3	15762530	15762530	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:15762530A>T	ENST00000399451.2	-	8	1165	c.798T>A	c.(796-798)aaT>aaA	p.N266K	ANKRD28_ENST00000383777.1_Missense_Mutation_p.N299K|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	266						nucleus (GO:0005634)		p.N299K(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATTCTTTTGATTCACAATAG	0.403																																						uc003caj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(796-798)AAT>AAA		ankyrin repeat domain 28							235.0	227.0	230.0					3																	15762530		1904	4134	6038	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15762530A>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.798T>A	3.37:g.15762530A>T	ENSP00000382379:p.Asn266Lys					ANKRD28_uc003cai.1_Missense_Mutation_p.N112K|ANKRD28_uc011avz.1_Missense_Mutation_p.N112K|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.N296K|ANKRD28_uc003cam.2_Missense_Mutation_p.N299K	p.N266K	NM_015199	NP_056014	O15084	ANR28_HUMAN			8	941	-			266			ANK 7.		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.798T>A	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736312	0.69189	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.71222	-0.55;-0.55;-0.55	6.03	6.03	0.97812	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.76433	2.335	0.80722	D	1	D;P;D	0.71674	0.998;0.926;0.998	P;P;D	0.65684	0.897;0.832;0.937	T	0.82414	-0.0469	10	0.56958	D	0.05	.	9.5473	0.39288	0.865:0.0:0.135:0.0	.	299;296;266	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	K	266;299;266	ENSP00000382379:N266K;ENSP00000373287:N299K;ENSP00000397341:N266K	ENSP00000373287:N299K	N	-	3	2	ANKRD28	15737534	1.000000	0.71417	0.998000	0.56505	0.665000	0.39181	5.086000	0.64474	2.313000	0.78055	0.455000	0.32223	AAT		0.403	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1		NM_015199		94	212	0	0	0	0.00361	0	94	212		
KCNH8	131096	broad.mit.edu	37	3	19575409	19575409	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:19575409A>C	ENST00000328405.2	+	16	3408	c.3142A>C	c.(3142-3144)Agc>Cgc	p.S1048R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1048	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.S1048R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGTTCTCCCAAGCAGATCAGA	0.488																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(1)	5						c.(3142-3144)AGC>CGC		potassium voltage-gated channel, subfamily H,							95.0	92.0	93.0					3																	19575409		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575409A>C	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3142A>C	3.37:g.19575409A>C	ENSP00000328813:p.Ser1048Arg					KCNH8_uc010hex.1_Missense_Mutation_p.S509R	p.S1048R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			16	3337	+			1048			Ser-rich.|Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.3142A>C	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660514	0.67586	.	.	ENSG00000183960	ENST00000328405	D	0.99143	-5.48	5.5	5.5	0.81552	.	0.000000	0.37136	U	0.002233	D	0.98852	0.9612	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.99782	1.1028	9	.	.	.	.	15.5965	0.76587	1.0:0.0:0.0:0.0	.	1048	Q96L42	KCNH8_HUMAN	R	1048	ENSP00000328813:S1048R	.	S	+	1	0	KCNH8	19550413	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	6.679000	0.74513	2.094000	0.63399	0.533000	0.62120	AGC		0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2		NM_144633		56	56	0	0	0	0.00361	0	56	56		
EXOG	9941	broad.mit.edu	37	3	38537926	38537926	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:38537926G>A	ENST00000287675.5	+	1	164	c.68G>A	c.(67-69)gGg>gAg	p.G23E	EXOG_ENST00000422077.2_Missense_Mutation_p.G23E|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	23					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G23E(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TTCGTGGCTGGGGCTGTAGTG	0.652											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cih.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(67-69)GGG>GAG		endo/exonuclease (5'-3'), endonuclease G-like							46.0	46.0	46.0					3																	38537926		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38537926G>A	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.68G>A	3.37:g.38537926G>A	ENSP00000287675:p.Gly23Glu		OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.G23E|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR	p.G23E	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN			1	164	+			23					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.68G>A	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303602	0.60305	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.75367	0.72;-0.93	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.78451	0.4285	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.916	T	0.79612	-0.1731	10	0.72032	D	0.01	-24.5723	11.5732	0.50845	0.0:0.1799:0.82:0.0	.	23;23	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	E	23	ENSP00000287675:G23E;ENSP00000404305:G23E	ENSP00000287675:G23E	G	+	2	0	EXOG	38512930	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	5.132000	0.64758	2.624000	0.88883	0.655000	0.94253	GGG		0.652	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2		NM_005107		3	12	0	0	0	0.004482	0	3	12		
NKTR	4820	broad.mit.edu	37	3	42687412	42687412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:42687412G>A	ENST00000232978.8	+	17	4522	c.4334G>A	c.(4333-4335)aGt>aAt	p.S1445N	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1445					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S1445N(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GACAGTGAAAGTGACCGAAGT	0.353																																						uc003clo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(4333-4335)AGT>AAT		natural killer-tumor recognition sequence							65.0	68.0	67.0					3																	42687412		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42687412G>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4334G>A	3.37:g.42687412G>A	ENSP00000232978:p.Ser1445Asn					NKTR_uc003clp.2_Missense_Mutation_p.S1193N|NKTR_uc011azp.1_Missense_Mutation_p.V256M|NKTR_uc003cls.2_Missense_Mutation_p.S1145N	p.S1445N	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	17	4481	+			1445						Missense_Mutation	SNP	ENST00000232978.8	37	c.4334G>A	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463228	0.63513	.	.	ENSG00000114857	ENST00000232978	T	0.18016	2.24	5.96	5.09	0.68999	.	0.156356	0.64402	D	0.000013	T	0.28566	0.0707	M	0.65498	2.005	0.80722	D	1	P;P	0.50369	0.934;0.693	P;B	0.46237	0.508;0.248	T	0.09509	-1.0671	10	0.87932	D	0	-17.7274	17.3773	0.87396	0.0:0.1247:0.8753:0.0	.	1145;1445	Q6M1B8;P30414	.;NKTR_HUMAN	N	1445	ENSP00000232978:S1445N	ENSP00000232978:S1445N	S	+	2	0	NKTR	42662416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.414000	0.66405	1.531000	0.49152	-0.150000	0.13652	AGT		0.353	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		9	19	0	0	0	0.006214	0	9	19		
SETD2	29072	broad.mit.edu	37	3	47125299	47125299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNASeq;WGS			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:47125299C>A	ENST00000409792.3	-	12	6013	c.5971G>T	c.(5971-5973)Gag>Tag	p.E1991*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1991					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E1488*(1)|p.E1991*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTCACTCTCCACATCAGAC	0.448			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Nonsense(2)		urinary_tract(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(5971-5973)GAG>TAG		SET domain containing 2							238.0	206.0	217.0					3																	47125299		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125299C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5971G>T	3.37:g.47125299C>A	ENSP00000386759:p.Glu1991*					SETD2_uc003cqv.2_Nonsense_Mutation_p.E2058*|SETD2_uc003cqt.1_RNA	p.E1991*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	6024	-		Acute lymphoblastic leukemia(5;0.0169)	1991					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.5971G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	47	13.745671	0.99760	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.59	5.59	0.84812	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.5917	0.95518	0.0:1.0:0.0:0.0	.	.	.	.	X	1991	.	ENSP00000386759:E1991X	E	-	1	0	SETD2	47100303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.475000	0.81041	2.614000	0.88457	0.650000	0.86243	GAG		0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159		70	80	1	0	4.09166e-32	0.00361	4.62151e-32	70	80		
CCDC51	79714	broad.mit.edu	37	3	48474335	48474335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:48474335C>T	ENST00000395694.2	-	4	804	c.719G>A	c.(718-720)gGg>gAg	p.G240E	CCDC51_ENST00000412398.2_Missense_Mutation_p.G131E|CCDC51_ENST00000442740.1_Missense_Mutation_p.G131E|CCDC51_ENST00000447018.1_Missense_Mutation_p.G131E|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000395696.1_Missense_Mutation_p.G240E|PLXNB1_ENST00000296440.6_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	240						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.G240E(1)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTCACAGGCCCCTTCTGCGC	0.602																																						uc003csz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(718-720)GGG>GAG		coiled-coil domain containing 51							63.0	69.0	67.0					3																	48474335		1926	4125	6051	SO:0001583	missense	79714					integral to membrane		g.chr3:48474335C>T	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.719G>A	3.37:g.48474335C>T	ENSP00000379047:p.Gly240Glu					PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.G131E|CCDC51_uc003ctb.2_Missense_Mutation_p.G131E|CCDC51_uc003ctc.2_Missense_Mutation_p.G240E|CCDC51_uc003ctd.2_Missense_Mutation_p.G131E	p.G240E	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	840	-			240					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.719G>A	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127725	0.77549	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.51817	0.73;0.69;0.73;0.69;0.73	5.75	4.88	0.63580	.	0.098306	0.64402	N	0.000001	T	0.66237	0.2769	M	0.75264	2.295	0.50813	D	0.99989	D	0.89917	1.0	D	0.77557	0.99	T	0.69514	-0.5125	10	0.72032	D	0.01	-22.3641	10.9217	0.47169	0.0:0.7982:0.1302:0.0716	.	240	Q96ER9	CCD51_HUMAN	E	131;240;131;240;131	ENSP00000412300:G131E;ENSP00000379047:G240E;ENSP00000401194:G131E;ENSP00000379049:G240E;ENSP00000392898:G131E	ENSP00000379047:G240E	G	-	2	0	CCDC51	48449339	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.592000	0.61027	1.432000	0.47375	0.655000	0.94253	GGG		0.602	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2		NM_024661		39	42	0	0	0	0.009718	0	39	42		
WDR6	11180	broad.mit.edu	37	3	49051674	49051674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:49051674C>T	ENST00000608424.1	+	3	2653	c.2614C>T	c.(2614-2616)Cag>Tag	p.Q872*	WDR6_ENST00000448293.1_Nonsense_Mutation_p.Q821*|WDR6_ENST00000395474.3_Nonsense_Mutation_p.Q902*|WDR6_ENST00000415265.2_Nonsense_Mutation_p.Q320*			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	872					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.Q872*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGAACTTGACCAGCCCGGCCT	0.582											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cvj.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(2704-2706)CAG>TAG		WD repeat domain 6 protein							76.0	69.0	71.0					3																	49051674		2203	4300	6503	SO:0001587	stop_gained	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051674C>T	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2614C>T	3.37:g.49051674C>T	ENSP00000477389:p.Gln872*		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_uc011bby.1_Nonsense_Mutation_p.Q350*|WDR6_uc010hkn.2_Nonsense_Mutation_p.Q846*|WDR6_uc011bbz.1_Nonsense_Mutation_p.Q821*	p.Q902*	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	3	2842	+			872			WD 13.		B4DHK2|Q3MIT1|Q9UF63	Nonsense_Mutation	SNP	ENST00000608424.1	37	c.2704C>T		.	.	.	.	.	.	.	.	.	.	C	38	7.071092	0.98044	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	.	.	.	5.58	2.42	0.29668	.	0.838739	0.10929	N	0.618578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-2.5348	14.0785	0.64905	0.6189:0.3811:0.0:0.0	.	.	.	.	X	902;320;821	.	ENSP00000378857:Q902X	Q	+	1	0	WDR6	49026678	0.000000	0.05858	0.003000	0.11579	0.087000	0.18053	-0.578000	0.05841	0.133000	0.18654	0.555000	0.69702	CAG		0.582	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1				6	30	0	0	0	0.006214	0	6	30		
USP19	10869	broad.mit.edu	37	3	49153998	49153998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:49153998G>A	ENST00000398888.2	-	7	1184	c.866C>T	c.(865-867)tCg>tTg	p.S289L	USP19_ENST00000398896.1_Missense_Mutation_p.S95L|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_Missense_Mutation_p.S390L|USP19_ENST00000398892.3_Missense_Mutation_p.S327L|USP19_ENST00000453664.1_Missense_Mutation_p.S380L|USP19_ENST00000434032.2_Missense_Mutation_p.S390L|USP19_ENST00000398898.2_Missense_Mutation_p.S327L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	289	CS 2. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.S390L(1)|p.S375L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCTCATACGAGTCATTCTT	0.537																																						uc003cwd.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|breast(2)|lung(1)	7						c.(865-867)TCG>TTG		ubiquitin thioesterase 19							104.0	104.0	104.0					3																	49153998		2088	4225	6313	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153998G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.866C>T	3.37:g.49153998G>A	ENSP00000381863:p.Ser289Leu					USP19_uc003cwa.2_Missense_Mutation_p.S95L|USP19_uc003cvz.3_Missense_Mutation_p.S390L|USP19_uc011bcg.1_Missense_Mutation_p.S380L|USP19_uc003cwb.2_Missense_Mutation_p.S375L|USP19_uc003cwc.1_Missense_Mutation_p.S45L|USP19_uc011bch.1_Missense_Mutation_p.S390L|USP19_uc011bci.1_Missense_Mutation_p.S375L	p.S289L	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	1027	-			289			CS 2.|Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.866C>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266276	0.80358	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45	6.07	6.07	0.98685	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.117006	0.64402	D	0.000012	T	0.34250	0.0891	L	0.53249	1.67	0.54753	D	0.999986	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;0.991	D;D;D;D;D;D;P	0.87578	0.971;0.99;0.995;0.986;0.998;0.973;0.821	T	0.01988	-1.1234	10	0.11794	T	0.64	-12.6299	15.0142	0.71570	0.0:0.0:0.8576:0.1424	.	453;390;380;289;327;375;95	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	L	95;327;390;380;327;289;390;375;375	ENSP00000381870:S95L;ENSP00000381872:S327L;ENSP00000395260:S390L;ENSP00000400090:S380L;ENSP00000381867:S327L;ENSP00000381863:S289L;ENSP00000401197:S390L;ENSP00000303503:S375L	ENSP00000303503:S375L	S	-	2	0	USP19	49129002	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	6.124000	0.71620	2.884000	0.98904	0.655000	0.94253	TCG		0.537	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1		NM_006677		42	50	0	0	0	0.010771	0	42	50		
MST1R	4486	broad.mit.edu	37	3	49929204	49929204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:49929204G>C	ENST00000296474.3	-	15	3366	c.3339C>G	c.(3337-3339)atC>atG	p.I1113M	MST1R_ENST00000344206.4_Missense_Mutation_p.I1064M	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.I1113M(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTAGTGACTTGATGGCACATT	0.517																																						uc003cxy.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|lung(1)	6						c.(3337-3339)ATC>ATG		macrophage stimulating 1 receptor precursor							231.0	200.0	210.0					3																	49929204		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49929204G>C	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3339C>G	3.37:g.49929204G>C	ENSP00000296474:p.Ile1113Met					MST1R_uc011bdc.1_Translation_Start_Site	p.I1113M	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	15	3603	-			1113			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3339C>G	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.44|18.44	3.625542|3.625542	0.66901|0.66901	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000434765;ENST00000440292	D;D|.	0.85339|.	-1.97;-1.97|.	5.43|5.43	3.59|3.59	0.41128|0.41128	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.373446|.	0.30565|.	N|.	0.009350|.	T|.	0.68879|.	0.3049|.	M|M	0.84948|0.84948	2.725|2.725	0.37382|0.37382	D|D	0.912073|0.912073	P|.	0.40431|.	0.717|.	P|.	0.52159|.	0.691|.	T|.	0.73322|.	-0.4019|.	10|.	0.87932|.	D|.	0|.	-7.3154|-7.3154	6.7812|6.7812	0.23646|0.23646	0.1438:0.0:0.7135:0.1427|0.1438:0.0:0.7135:0.1427	.|.	1113|.	Q04912|.	RON_HUMAN|.	M|X	1113;1064|91;134	ENSP00000296474:I1113M;ENSP00000341325:I1064M|.	ENSP00000296474:I1113M|.	I|S	-|-	3|2	3|0	MST1R|MST1R	49904208|49904208	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	1.127000|1.127000	0.31357|0.31357	1.270000|1.270000	0.44297|0.44297	0.638000|0.638000	0.83543|0.83543	ATC|TCA		0.517	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				84	79	0	0	0	0.00361	0	84	79		
ITIH3	3699	broad.mit.edu	37	3	52835110	52835110	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:52835110A>G	ENST00000449956.2	+	11	1337	c.1331A>G	c.(1330-1332)cAt>cGt	p.H444R	ITIH3_ENST00000416872.2_Missense_Mutation_p.H444R	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	444	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H444R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGGAGAACCATGGGTTTGCC	0.512																																						uc003dfv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|liver(1)	3						c.(1330-1332)CAT>CGT		inter-alpha (globulin) inhibitor H3							76.0	79.0	78.0					3																	52835110		1934	4128	6062	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52835110A>G		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1331A>G	3.37:g.52835110A>G	ENSP00000415769:p.His444Arg					ITIH3_uc011bek.1_Missense_Mutation_p.H444R	p.H444R	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	11	1367	+			444			VWFA.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.1331A>G	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	A	6.467	0.454279	0.12283	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.77098	-1.07;-1.07	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.727412	0.14121	N	0.340004	T	0.56470	0.1987	N	0.10782	0.045	0.09310	N	1	B;B	0.20164	0.042;0.001	B;B	0.22152	0.038;0.005	T	0.40156	-0.9578	10	0.05436	T	0.98	-3.4506	10.5484	0.45072	0.8381:0.1619:0.0:0.0	.	444;444	E7ET33;Q06033	.;ITIH3_HUMAN	R	444;432;439;444;444	ENSP00000413922:H444R;ENSP00000415769:H444R	ENSP00000273291:H439R	H	+	2	0	ITIH3	52810150	0.008000	0.16893	0.238000	0.24106	0.795000	0.44927	2.334000	0.43920	2.240000	0.73641	0.533000	0.62120	CAT		0.512	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2		NM_002217		21	21	0	0	0	0.008871	0	21	21		
CACNA2D3	55799	broad.mit.edu	37	3	54420796	54420796	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:54420796T>A	ENST00000474759.1	+	4	424	c.376T>A	c.(376-378)Tta>Ata	p.L126I	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L126I|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L32I|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L126I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	126						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L126I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGATGCAGACTTACAGGTAAC	0.368																																						uc003dhf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(376-378)TTA>ATA		calcium channel, voltage-dependent, alpha							103.0	102.0	102.0					3																	54420796		1870	4108	5978	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54420796T>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.376T>A	3.37:g.54420796T>A	ENSP00000419101:p.Leu126Ile					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.L32I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	p.L126I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	4	424	+			126			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.376T>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141093	0.56936	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	T;T;T;T;T	0.45276	3.03;3.03;3.03;3.05;0.9	5.44	-0.183	0.13284	VWA N-terminal (1);	0.087232	0.44285	D	0.000466	T	0.45836	0.1362	L	0.55743	1.74	0.29713	N	0.839228	P	0.35944	0.529	P	0.50934	0.654	T	0.46884	-0.9159	10	0.29301	T	0.29	.	8.3117	0.32075	0.0:0.36:0.0:0.64	.	126	Q8IZS8	CA2D3_HUMAN	I	126;126;126;32;32;32;31	ENSP00000389506:L126I;ENSP00000419101:L126I;ENSP00000288197:L126I;ENSP00000417279:L32I;ENSP00000418028:L32I	ENSP00000288197:L126I	L	+	1	2	CACNA2D3	54395836	0.999000	0.42202	0.972000	0.41901	0.980000	0.70556	0.577000	0.23758	-0.164000	0.10927	-0.912000	0.02778	TTA		0.368	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1				3	9	0	0	0	0.009096	0	3	9		
WNT5A	7474	broad.mit.edu	37	3	55504170	55504170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:55504170C>G	ENST00000474267.1	-	6	1614	c.1093G>C	c.(1093-1095)Gtc>Ctc	p.V365L	WNT5A_ENST00000497027.1_Missense_Mutation_p.V350L|WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000264634.4_Missense_Mutation_p.V365L			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	365					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V458L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGCACTTGACGTAGCAGCAC	0.592																																						uc003dhn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1093-1095)GTC>CTC		wingless-type MMTV integration site family,							88.0	90.0	89.0					3																	55504170		2203	4300	6503	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504170C>G	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1093G>C	3.37:g.55504170C>G	ENSP00000417310:p.Val365Leu					WNT5A_uc003dhm.2_Missense_Mutation_p.V350L|WNT5A_uc010hmw.2_Missense_Mutation_p.V350L|WNT5A_uc010hmx.2_Missense_Mutation_p.V276L	p.V365L	NM_003392	NP_003383	P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1411	-			365					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.1093G>C	CCDS46850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.336781|5.336781	0.95758|0.95758	.|.	.|.	ENSG00000114251|ENSG00000114251	ENST00000442038|ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	.|D;D;D	.|0.82803	.|-1.65;-1.65;-1.65	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93478|0.93478	0.7919|0.7919	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.94092|0.94092	0.7354|0.7354	6|10	0.87932|0.87932	D|D	0|0	.|.	20.0953|20.0953	0.97838|0.97838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|365	.|P41221	.|WNT5A_HUMAN	P|L	97|365;365;276;350	.|ENSP00000417310:V365L;ENSP00000264634:V365L;ENSP00000420104:V350L	ENSP00000395272:R97P|ENSP00000264634:V365L	R|V	-|-	2|1	0|0	WNT5A|WNT5A	55479210|55479210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.813000|7.813000	0.86123|0.86123	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.592	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3		NM_003392		22	30	0	0	0	0.007291	0	22	30		
KIAA1524	57650	broad.mit.edu	37	3	108273235	108273235	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:108273235T>A	ENST00000295746.8	-	18	2388	c.2312A>T	c.(2311-2313)gAa>gTa	p.E771V	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E612V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	771					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E771V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCATTTTGTTCCTTGAGTGA	0.269																																						uc003dxb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2311-2313)GAA>GTA		p90 autoantigen							65.0	62.0	63.0					3																	108273235		2200	4295	6495	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108273235T>A	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2312A>T	3.37:g.108273235T>A	ENSP00000295746:p.Glu771Val						p.E771V	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			18	2581	-			771			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2312A>T	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.680471	0.29872	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.55588	0.51;0.51	5.26	5.26	0.73747	.	0.439260	0.26979	N	0.021531	T	0.25901	0.0631	N	0.02011	-0.69	0.23920	N	0.996461	B	0.09022	0.002	B	0.06405	0.002	T	0.13019	-1.0525	10	0.30854	T	0.27	-1.9358	11.4731	0.50282	0.0:0.0:0.1502:0.8498	.	771	Q8TCG1	CIP2A_HUMAN	V	612;771	ENSP00000419487:E612V;ENSP00000295746:E771V	ENSP00000295746:E771V	E	-	2	0	KIAA1524	109755925	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.794000	0.38774	2.112000	0.64535	0.528000	0.53228	GAA		0.269	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2		NM_020890		5	12	0	0	0	0.001984	0	5	12		
CASR	846	broad.mit.edu	37	3	121994736	121994736	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:121994736G>C	ENST00000490131.1	+	5	1827	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	CASR_ENST00000296154.5_Silent_p.L485L|CASR_ENST00000498619.1_Silent_p.L485L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	485					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)	p.L485L(1)		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)	GTGGTGACCTGGTGGGGAACT	0.488																																						uc003eev.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(1453-1455)CTG>CTC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						155.0	138.0	144.0					3																	121994736		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:121994736G>C	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1455G>C	3.37:g.121994736G>C						CASR_uc003eew.3_Silent_p.L485L	p.L485L	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	5	1827	+			485			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.1455G>C	CCDS3010.1																																																																																				0.488	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1		NM_000388		63	96	0	0	0	0.00361	0	63	96		
ADCY5	111	broad.mit.edu	37	3	123046525	123046525	+	Silent	SNP	G	G	A	rs554468667	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:123046525G>A	ENST00000462833.1	-	7	3099	c.1887C>T	c.(1885-1887)aaC>aaT	p.N629N	ADCY5_ENST00000309879.5_Silent_p.N279N|ADCY5_ENST00000491190.1_Silent_p.N262N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	629					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.N629N(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGAGGTAGGCGTTGCGCTCGC	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		15106	0.002		0.0	False		,,,				2504	0.0					uc003egh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)	4						c.(1885-1887)AAC>AAT		adenylate cyclase 5							92.0	72.0	78.0					3																	123046525		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123046525G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1887C>T	3.37:g.123046525G>A						ADCY5_uc003egg.1_Silent_p.N262N|ADCY5_uc003egi.1_Silent_p.N188N	p.N629N	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	7	1887	-			629			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1887C>T	CCDS3022.1																																																																																				0.642	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		XM_171048		8	33	0	0	0	0.00308	0	8	33		
STAG1	10274	broad.mit.edu	37	3	136287647	136287647	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:136287647C>T	ENST00000383202.2	-	5	610	c.354G>A	c.(352-354)ctG>ctA	p.L118L	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Silent_p.L118L|STAG1_ENST00000480733.1_Silent_p.L118L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	118					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.L118L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGATTAAATCCAGAAGTGCGA	0.353																																						uc003era.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(352-354)CTG>CTA		stromal antigen 1							69.0	64.0	66.0					3																	136287647		2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136287647C>T	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.354G>A	3.37:g.136287647C>T						STAG1_uc003erb.1_Silent_p.L118L|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_Silent_p.L21L|STAG1_uc003ere.2_Silent_p.L118L	p.L118L	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			5	646	-			118					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.354G>A	CCDS3090.1																																																																																				0.353	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862		14	44	0	0	0	0.004007	0	14	44		
MRPS22	56945	broad.mit.edu	37	3	139065815	139065815	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:139065815A>T	ENST00000495075.1	+	4	700	c.268A>T	c.(268-270)Act>Tct	p.T90S	MRPS22_ENST00000478464.1_Missense_Mutation_p.T49S|MRPS22_ENST00000310776.4_Missense_Mutation_p.T90S|MRPS22_ENST00000465056.1_Missense_Mutation_p.T89S|RP11-219D15.3_ENST00000608472.1_RNA			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	90						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.T90S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						CTTGCAGAAGACTTTTAAGCC	0.413																																						uc003etb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(268-270)ACT>TCT		mitochondrial ribosomal protein S22							116.0	112.0	113.0					3																	139065815		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139065815A>T	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.268A>T	3.37:g.139065815A>T	ENSP00000418008:p.Thr90Ser					MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.T89S|MRPS22_uc003ete.2_Missense_Mutation_p.T49S	p.T90S	NM_020191	NP_064576	P82650	RT22_HUMAN			2	276	+			90					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.268A>T	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.594940	0.66219	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373;ENST00000478464	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.42	-1.67	0.08238	.	0.428683	0.26293	N	0.025213	T	0.72803	0.3506	N	0.22421	0.69	0.23168	N	0.998189	B;B;B	0.28783	0.118;0.185;0.222	B;B;B	0.33392	0.101;0.101;0.163	T	0.63786	-0.6558	10	0.87932	D	0	-0.6688	14.755	0.69557	0.1601:0.0:0.8399:0.0	.	49;89;90	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	S	90;90;89;95;49	ENSP00000418008:T90S;ENSP00000310785:T90S;ENSP00000418233:T89S;ENSP00000419920:T95S;ENSP00000419303:T49S	ENSP00000310785:T90S	T	+	1	0	MRPS22	140548505	0.665000	0.27466	0.842000	0.33263	0.994000	0.84299	-0.151000	0.10175	-0.603000	0.05767	0.482000	0.46254	ACT		0.413	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1		NM_020191		55	70	0	0	0	0.00361	0	55	70		
TFDP2	7029	broad.mit.edu	37	3	141671502	141671502	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:141671502G>C	ENST00000489671.1	-	13	1624	c.1194C>G	c.(1192-1194)gcC>gcG	p.A398A	TFDP2_ENST00000397991.4_Silent_p.A370A|TFDP2_ENST00000477292.1_Silent_p.A262A|TFDP2_ENST00000486111.1_Silent_p.A338A|TFDP2_ENST00000467072.1_Silent_p.A338A|TFDP2_ENST00000310282.6_Silent_p.A338A|TFDP2_ENST00000317104.7_Silent_p.A322A|TFDP2_ENST00000479040.1_Silent_p.A337A|TFDP2_ENST00000495310.1_Silent_p.A301A|TFDP2_ENST00000499676.2_Silent_p.A338A			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	398					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.A398A(1)		kidney(1)|upper_aerodigestive_tract(2)	3						CAGTTGCTAAGGCCACTTCTG	0.493																																						uc003eun.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(1)	1						c.(1192-1194)GCC>GCG		transcription factor Dp-2 (E2F dimerization							57.0	59.0	58.0					3																	141671502		1968	4144	6112	SO:0001819	synonymous_variant	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141671502G>C	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1194C>G	3.37:g.141671502G>C						TFDP2_uc003euk.3_Silent_p.A311A|TFDP2_uc010hur.2_Silent_p.A338A|TFDP2_uc003eul.3_Silent_p.A338A|TFDP2_uc011bnf.1_Silent_p.A301A|TFDP2_uc011bng.1_Silent_p.A262A|TFDP2_uc003eum.3_Silent_p.A338A	p.A398A	NM_006286	NP_006277	Q14188	TFDP2_HUMAN			13	1573	-			398					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Silent	SNP	ENST00000489671.1	37	c.1194C>G	CCDS54650.1																																																																																				0.493	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4		NM_006286		32	42	0	0	0	0.002836	0	32	42		
TRPC1	7220	broad.mit.edu	37	3	142499680	142499680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:142499680G>A	ENST00000476941.1	+	6	1255	c.769G>A	c.(769-771)Gat>Aat	p.D257N	TRPC1_ENST00000273482.6_Missense_Mutation_p.D223N	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	257					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.D223N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTATAGGAATGATTATGAGGA	0.343																																						uc003evc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(769-771)GAT>AAT		transient receptor potential cation channel,							74.0	74.0	74.0					3																	142499680		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499680G>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.769G>A	3.37:g.142499680G>A	ENSP00000419313:p.Asp257Asn					TRPC1_uc003evb.2_Missense_Mutation_p.D223N	p.D257N	NM_003304	NP_003295	P48995	TRPC1_HUMAN			6	905	+			257			Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.769G>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	35	5.428639	0.96131	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.63580	-0.05;-0.05	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	L	0.59436	1.845	0.80722	D	1	D;D	0.65815	0.993;0.995	D;P	0.70935	0.971;0.879	T	0.78270	-0.2269	10	0.87932	D	0	-25.2892	20.04	0.97581	0.0:0.0:1.0:0.0	.	257;223	P48995;P48995-2	TRPC1_HUMAN;.	N	257;223	ENSP00000419313:D257N;ENSP00000273482:D223N	ENSP00000273482:D223N	D	+	1	0	TRPC1	143982370	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	GAT		0.343	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1		NM_003304		15	61	0	0	0	0.003163	0	15	61		
P2RY13	53829	broad.mit.edu	37	3	151046556	151046556	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:151046556A>G	ENST00000325602.5	-	2	307	c.288T>C	c.(286-288)ctT>ctC	p.L96L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	96					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L75L(1)|p.L96L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TTTTGAAAGGAAGCATGAGTG	0.468																																						uc003eyv.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|lung(1)	4						c.(286-288)CTT>CTC		purinergic receptor P2Y, G-protein coupled, 13							109.0	105.0	106.0					3																	151046556		2203	4300	6503	SO:0001819	synonymous_variant	53829					integral to membrane|plasma membrane		g.chr3:151046556A>G	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.288T>C	3.37:g.151046556A>G						MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.L96L	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	309	-			96			Helical; Name=2; (Potential).		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Silent	SNP	ENST00000325602.5	37	c.288T>C	CCDS3158.2																																																																																				0.468	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1		NM_023914		34	55	0	0	0	0.012213	0	34	55		
GP5	2814	broad.mit.edu	37	3	194117570	194117570	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:194117570C>T	ENST00000401815.1	-	1	1513	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	GP5_ENST00000323007.3_Missense_Mutation_p.R481H			P40197	GPV_HUMAN	glycoprotein V (platelet)	481					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R481H(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGCAgcggggcggggaggcgg	0.776																																						uc003ftv.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|breast(1)	3						c.(1441-1443)CGC>CAC		glycoprotein V (platelet) precursor							19.0	25.0	23.0					3																	194117570		2181	4276	6457	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117570C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1442G>A	3.37:g.194117570C>T	ENSP00000383931:p.Arg481His						p.R481H	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	1473	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	481			Extracellular (Potential).		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.1442G>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	5.044	0.193711	0.09599	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.46063	0.88;0.88	3.24	-1.02	0.10135	.	0.605560	0.13741	N	0.365938	T	0.14960	0.0361	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23190	-1.0195	10	0.15499	T	0.54	.	3.9174	0.09228	0.0:0.2739:0.3968:0.3293	.	481	P40197	GPV_HUMAN	H	481	ENSP00000383931:R481H;ENSP00000319286:R481H	ENSP00000319286:R481H	R	-	2	0	GP5	195598859	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.072000	0.01377	-0.170000	0.10816	-0.417000	0.06048	CGC		0.776	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1		NM_004488		32	36	0	0	0	0.008361	0	32	36		
DRD5	1816	broad.mit.edu	37	4	9784901	9784901	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:9784901C>T	ENST00000304374.2	+	1	1644	c.1248C>T	c.(1246-1248)aaC>aaT	p.N416N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	416					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.N416N(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGATGCCCAACGCCGTTACCC	0.562																																						uc003gmb.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1246-1248)AAC>AAT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						92.0	77.0	82.0					4																	9784901		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784901C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1248C>T	4.37:g.9784901C>T							p.N416N	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1644	+			416			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.1248C>T	CCDS3405.1																																																																																				0.562	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1				20	42	0	0	0	0.002299	0	20	42		
PHOX2B	8929	broad.mit.edu	37	4	41748140	41748140	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:41748140G>A	ENST00000226382.2	-	3	988	c.629C>T	c.(628-630)gCg>gTg	p.A210V	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	210					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.A210V(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						gccTCCATTCGCCCCGCAGCT	0.756			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.3		NaN	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		1	Substitution - Missense(1)		urinary_tract(1)	autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(628-630)GCG>GTG		paired-like homeobox 2b							22.0	24.0	23.0					4																	41748140		2202	4299	6501	SO:0001583	missense	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41748140G>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.629C>T	4.37:g.41748140G>A	ENSP00000226382:p.Ala210Val						p.A210V	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			3	989	-			210					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.629C>T	CCDS3463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.91|12.91	2.080063|2.080063	0.36662|0.36662	.|.	.|.	ENSG00000109132|ENSG00000109132	ENST00000226382|ENST00000510424	D|.	0.92495|.	-3.05|.	4.4|4.4	2.63|2.63	0.31362|0.31362	.|.	0.852543|.	0.09842|.	N|.	0.748704|.	T|.	0.17109|.	0.0411|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.13145|.	0.007|.	B|.	0.08055|.	0.003|.	T|.	0.25433|.	-1.0132|.	10|.	0.26408|.	T|.	0.33|.	.|.	6.5641|6.5641	0.22503|0.22503	0.1031:0.4131:0.4838:0.0|0.1031:0.4131:0.4838:0.0	.|.	210|.	Q99453|.	PHX2B_HUMAN|.	V|X	210|150	ENSP00000226382:A210V|.	ENSP00000226382:A210V|.	A|R	-|-	2|1	0|2	PHOX2B|PHOX2B	41442897|41442897	0.987000|0.987000	0.35691|0.35691	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.000000|0.000000	0.12993|0.12993	0.439000|0.439000	0.26476|0.26476	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.756	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2				7	16	0	0	0	0.001984	0	7	16		
NMU	10874	broad.mit.edu	37	4	56471508	56471508	+	Silent	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:56471508A>C	ENST00000264218.3	-	7	474	c.369T>G	c.(367-369)gtT>gtG	p.V123V	NMU_ENST00000515325.1_5'UTR|NMU_ENST00000511469.1_Silent_p.V107V|NMU_ENST00000505262.1_Silent_p.V96V|NMU_ENST00000507338.1_Intron	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	123					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)	p.V123V(1)		lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		ACGGATGCACAACTGACGACT	0.463																																						uc003hbc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(367-369)GTT>GTG		neuromedin U precursor							172.0	151.0	158.0					4																	56471508		2203	4300	6503	SO:0001819	synonymous_variant	10874				neuropeptide signaling pathway	extracellular region		g.chr4:56471508A>C	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.369T>G	4.37:g.56471508A>C						NMU_uc003hbd.1_Intron|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Silent_p.V38V|NMU_uc010igx.1_Intron	p.V123V	NM_006681	NP_006672	P48645	NMU_HUMAN	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)	7	475	-	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	123						Silent	SNP	ENST00000264218.3	37	c.369T>G	CCDS3501.1																																																																																				0.463	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2				29	27	0	0	0	0.008361	0	29	27		
PDE5A	8654	broad.mit.edu	37	4	120484008	120484008	+	Missense_Mutation	SNP	T	T	C	rs201004401		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:120484008T>C	ENST00000354960.3	-	6	1430	c.1111A>G	c.(1111-1113)Ata>Gta	p.I371V	PDE5A_ENST00000264805.5_Missense_Mutation_p.I329V|PDE5A_ENST00000394439.1_Missense_Mutation_p.I319V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	371	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.I371V(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TCATCCACTATGAAAATGGTG	0.299																																						uc003idh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1111-1113)ATA>GTA		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						82.0	89.0	86.0					4																	120484008		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120484008T>C	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1111A>G	4.37:g.120484008T>C	ENSP00000347046:p.Ile371Val					PDE5A_uc003idf.2_Missense_Mutation_p.I329V|PDE5A_uc003idg.2_Missense_Mutation_p.I319V	p.I371V	NM_001083	NP_001074	O76074	PDE5A_HUMAN			6	1266	-			371			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1111A>G	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230412	0.58777	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68765	-0.35;-0.35;-0.35	5.3	5.3	0.74995	GAF (2);	0.094389	0.64402	D	0.000001	T	0.77791	0.4183	M	0.71581	2.175	0.58432	D	0.999995	B;D	0.53462	0.061;0.96	B;P	0.57620	0.062;0.824	T	0.80999	-0.1131	10	0.87932	D	0	.	15.2108	0.73222	0.0:0.0:0.0:1.0	.	371;329	O76074;O76074-2	PDE5A_HUMAN;.	V	371;319;329	ENSP00000347046:I371V;ENSP00000377957:I319V;ENSP00000264805:I329V	ENSP00000264805:I329V	I	-	1	0	PDE5A	120703456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.130000	0.65690	0.528000	0.53228	ATA		0.299	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1		NM_001083		23	64	0	0	0	0.005443	0	23	64		
NDNF	79625	broad.mit.edu	37	4	121958158	121958158	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:121958158A>C	ENST00000379692.4	-	4	1494	c.968T>G	c.(967-969)aTg>aGg	p.M323R	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	323	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.M323R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGCGGTGCTCATGTTGCTGTT	0.418																																						uc003idq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(967-969)ATG>AGG		hypothetical protein LOC79625 precursor							164.0	137.0	146.0					4																	121958158		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958158A>C	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.968T>G	4.37:g.121958158A>C	ENSP00000369014:p.Met323Arg						p.M323R	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1495	-			323			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.968T>G	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	A	6.062	0.379843	0.11466	.	.	ENSG00000173376	ENST00000379692	T	0.52057	0.68	5.88	-6.47	0.01902	.	0.381500	0.34002	N	0.004347	T	0.31231	0.0790	L	0.41236	1.265	0.45194	D	0.998208	B	0.02656	0.0	B	0.08055	0.003	T	0.15321	-1.0441	10	0.16420	T	0.52	-7.416	15.585	0.76475	0.5346:0.0:0.4654:0.0	.	323	Q8TB73	NDNF_HUMAN	R	323	ENSP00000369014:M323R	ENSP00000369014:M323R	M	-	2	0	NDNF	122177608	0.977000	0.34250	0.601000	0.28877	0.977000	0.68977	0.572000	0.23684	-1.050000	0.03230	-0.290000	0.09829	ATG		0.418	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2		NM_024574		29	46	0	0	0	0.00632	0	29	46		
PCDH10	57575	broad.mit.edu	37	4	134071562	134071562	+	Silent	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:134071562C>A	ENST00000264360.5	+	1	1093	c.267C>A	c.(265-267)ccC>ccA	p.P89P	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	89	Cadherin 1. {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)	p.P89P(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACAGAGCCCCTCCTGTGTCC	0.547																																						uc003iha.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(265-267)CCC>CCA		protocadherin 10 isoform 1 precursor							59.0	66.0	63.0					4																	134071562		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071562C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.267C>A	4.37:g.134071562C>A						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P89P	p.P89P	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1093	+			89			Cadherin 1.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.267C>A	CCDS34063.1																																																																																				0.547	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961		25	42	1	0	5.35047e-06	0.00333	5.60016e-06	25	42		
USP38	84640	broad.mit.edu	37	4	144127185	144127185	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:144127185G>A	ENST00000307017.4	+	6	1715		c.e6-1		USP38_ENST00000510377.1_Splice_Site	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATGACCTATAGGATTTTCCTA	0.308																																						uc003ijb.2		NaN																	1	Unknown(1)		urinary_tract(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.e6-1		ubiquitin specific peptidase 38							64.0	68.0	66.0					4																	144127185		2201	4300	6501	SO:0001630	splice_region_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144127185G>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1210-1G>A	4.37:g.144127185G>A						USP38_uc003ija.3_Splice_Site_p.D404_splice|USP38_uc003ijc.2_Splice_Site	p.D404_splice	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			6	1744	+	all_hematologic(180;0.158)							B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Splice_Site	SNP	ENST00000307017.4	37	c.1210_splice	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448539	0.63178	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1501	0.93485	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP38	144346635	1.000000	0.71417	0.996000	0.52242	0.613000	0.37349	9.813000	0.99286	2.594000	0.87642	0.655000	0.94253	.		0.308	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1		NM_032557	Intron	20	29	0	0	0	0.010504	0	20	29		
NPY5R	4889	broad.mit.edu	37	4	164271624	164271624	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:164271624A>G	ENST00000515560.1	+	4	1721	c.199A>G	c.(199-201)Atg>Gtg	p.M67V	NPY5R_ENST00000338566.3_Missense_Mutation_p.M67V|NPY5R_ENST00000506953.1_Missense_Mutation_p.M67V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	67					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|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)	p.M67V(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AATGGCTCTCATGAAAAAGCG	0.383																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(6)|skin(1)	7						c.(199-201)ATG>GTG		neuropeptide Y receptor Y5							208.0	201.0	203.0					4																	164271624		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271624A>G	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.199A>G	4.37:g.164271624A>G	ENSP00000423917:p.Met67Val						p.M67V	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	381	+	all_hematologic(180;0.166)	Prostate(90;0.109)	67			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.199A>G	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	A	1.404	-0.577412	0.03854	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.35421	1.31;1.31;1.31	5.35	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.265484	0.32459	N	0.006075	T	0.15305	0.0369	N	0.12471	0.22	0.27997	N	0.935428	B	0.02656	0.0	B	0.04013	0.001	T	0.21280	-1.0250	10	0.12430	T	0.62	.	4.0472	0.09778	0.6793:0.0:0.1687:0.152	.	67	Q15761	NPY5R_HUMAN	V	67	ENSP00000339377:M67V;ENSP00000423917:M67V;ENSP00000423474:M67V	ENSP00000339377:M67V	M	+	1	0	NPY5R	164491074	0.874000	0.30092	0.998000	0.56505	0.999000	0.98932	1.533000	0.36040	0.411000	0.25702	0.533000	0.62120	ATG		0.383	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1		NM_006174		56	129	0	0	0	0.00361	0	56	129		
ADCY2	108	broad.mit.edu	37	5	7817004	7817004	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:7817004T>C	ENST00000338316.4	+	23	2998	c.2909T>C	c.(2908-2910)aTt>aCt	p.I970T	ADCY2_ENST00000537121.1_Missense_Mutation_p.I790T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	970					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I970T(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TACATGCACATTGGCACCATG	0.517											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jdz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2908-2910)ATT>ACT		adenylate cyclase 2							188.0	151.0	164.0					5																	7817004		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7817004T>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2909T>C	5.37:g.7817004T>C	ENSP00000342952:p.Ile970Thr		OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	ADCY2_uc011cmo.1_Missense_Mutation_p.I790T|ADCY2_uc010itm.1_Missense_Mutation_p.I166T	p.I970T	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			23	2976	+			970			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2909T>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593116	0.86953	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.81659	-1.52;-1.52	5.42	5.42	0.78866	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	L	0.33189	0.99	0.58432	D	0.999996	D;D	0.71674	0.998;0.998	D;D	0.77557	0.986;0.99	D	0.86694	0.1925	10	0.87932	D	0	.	15.4601	0.75349	0.0:0.0:0.0:1.0	.	790;970	B7Z2C1;Q08462	.;ADCY2_HUMAN	T	970;123;803;790	ENSP00000342952:I970T;ENSP00000444803:I790T	ENSP00000342952:I970T	I	+	2	0	ADCY2	7870004	1.000000	0.71417	0.940000	0.37924	0.992000	0.81027	7.750000	0.85110	2.059000	0.61396	0.459000	0.35465	ATT		0.517	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		21	57	0	0	0	0.002299	0	21	57		
TRIO	7204	broad.mit.edu	37	5	14492807	14492807	+	Missense_Mutation	SNP	G	G	A	rs368253813		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:14492807G>A	ENST00000344204.4	+	49	7788	c.7764G>A	c.(7762-7764)atG>atA	p.M2588I	TRIO_ENST00000344135.5_Missense_Mutation_p.M87I|TRIO_ENST00000537187.1_Missense_Mutation_p.M2412I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2588	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M2588I(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCAGAACATGTTTCTGGTGT	0.562																																						uc003jff.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(7762-7764)ATG>ATA		triple functional domain (PTPRF interacting)		G	ILE/MET	0,4406		0,0,2203	79.0	63.0	68.0		7764	5.2	1.0	5		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIO	NM_007118.2	10	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2588/3098	14492807	1,13005	2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14492807G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7764G>A	5.37:g.14492807G>A	ENSP00000339299:p.Met2588Ile					TRIO_uc003jfg.2_RNA	p.M2588I	NM_007118	NP_009049	O75962	TRIO_HUMAN			49	7770	+	Lung NSC(4;0.000742)		2588			SH3 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.7764G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826262	0.90955	0.0	1.16E-4	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T	0.49720	0.77;0.77;0.77	5.22	5.22	0.72569	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	L	0.52573	1.65	0.35989	D	0.836552	D	0.76494	0.999	D	0.68765	0.96	T	0.72110	-0.4389	10	0.87932	D	0	.	19.1774	0.93607	0.0:0.0:1.0:0.0	.	2588	O75962	TRIO_HUMAN	I	2588;2412;2275;87	ENSP00000339299:M2588I;ENSP00000446348:M2412I;ENSP00000339291:M87I	ENSP00000339291:M87I	M	+	3	0	TRIO	14545807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	2.595000	0.87683	0.655000	0.94253	ATG		0.562	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		5	24	0	0	0	0.001168	0	5	24		
ADAMTS12	81792	broad.mit.edu	37	5	33576343	33576343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:33576343G>A	ENST00000504830.1	-	19	4123	c.3788C>T	c.(3787-3789)aCg>aTg	p.T1263M	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1263	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T1263M(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACGGTTTGCCGTCTTTCCTGA	0.502										HNSCC(64;0.19)																												uc003jia.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3787-3789)ACG>ATG		ADAM metallopeptidase with thrombospondin type 1							199.0	198.0	198.0					5																	33576343		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576343G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3788C>T	5.37:g.33576343G>A	ENSP00000422554:p.Thr1263Met	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1178M	p.T1263M	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3951	-			1263			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3788C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	2.426	-0.331954	0.05314	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59638	0.26;0.25	5.42	1.0	0.19881	.	2.214480	0.01524	N	0.018491	T	0.36193	0.0958	N	0.14661	0.345	0.09310	N	1	B;B	0.33171	0.4;0.279	B;B	0.27380	0.079;0.022	T	0.28364	-1.0046	10	0.46703	T	0.11	.	1.0625	0.01604	0.4257:0.1432:0.2642:0.1669	.	1178;1263	P58397-3;P58397	.;ATS12_HUMAN	M	1263;1178	ENSP00000422554:T1263M;ENSP00000344847:T1178M	ENSP00000344847:T1178M	T	-	2	0	ADAMTS12	33612100	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.466000	0.22019	0.263000	0.21812	0.655000	0.94253	ACG		0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		48	92	0	0	0	0.00361	0	48	92		
NIPBL	25836	broad.mit.edu	37	5	36976326	36976326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:36976326G>C	ENST00000282516.8	+	9	1816	c.1317G>C	c.(1315-1317)caG>caC	p.Q439H	NIPBL_ENST00000448238.2_Missense_Mutation_p.Q439H|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	439	Gln-rich.				brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.Q439H(4)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTTACAACAGAACACTTCAG	0.423																																						uc003jkl.3		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|pancreas(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(1315-1317)CAG>CAC		delangin isoform A							80.0	81.0	81.0					5																	36976326		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976326G>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1317G>C	5.37:g.36976326G>C	ENSP00000282516:p.Gln439His					NIPBL_uc003jkk.3_Missense_Mutation_p.Q439H|NIPBL_uc003jkm.1_Missense_Mutation_p.Q318H	p.Q439H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1816	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		439			Gln-rich.		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1317G>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607685	0.46527	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94092	-3.34;-3.35	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	N	0.24115	0.695	0.33025	D	0.529366	P;P	0.47191	0.651;0.891	B;P	0.44359	0.261;0.447	D	0.92116	0.5700	10	0.46703	T	0.11	.	15.0957	0.72232	0.0:0.1413:0.8587:0.0	.	439;439	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	439	ENSP00000282516:Q439H;ENSP00000406266:Q439H	ENSP00000282516:Q439H	Q	+	3	2	NIPBL	37012083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.756000	0.47549	2.641000	0.89580	0.460000	0.39030	CAG		0.423	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384		22	46	0	0	0	0.010504	0	22	46		
MAP3K1	4214	broad.mit.edu	37	5	56152428	56152428	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:56152428C>T	ENST00000399503.3	+	2	484	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	162					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.R162C(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCATTTTAGTCGTGAGATGGA	0.373																																						uc003jqw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(484-486)CGT>TGT		mitogen-activated protein kinase kinase kinase							67.0	63.0	64.0					5																	56152428		1823	4084	5907	SO:0001630	splice_region_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56152428C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.483-1C>T	5.37:g.56152428C>T							p.R162C	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	2	985	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	162						Missense_Mutation	SNP	ENST00000399503.3	37	c.484C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.789417	0.96945	.	.	ENSG00000095015	ENST00000399503	T	0.76186	-1.0	5.43	5.43	0.79202	.	0.061430	0.64402	D	0.000004	T	0.77184	0.4093	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.56088	0.791	T	0.79638	-0.1720	10	0.72032	D	0.01	.	19.6188	0.95647	0.0:1.0:0.0:0.0	.	162	Q13233	M3K1_HUMAN	C	162	ENSP00000382423:R162C	ENSP00000382423:R162C	R	+	1	0	MAP3K1	56188185	1.000000	0.71417	0.896000	0.35187	0.808000	0.45660	4.634000	0.61325	2.699000	0.92147	0.650000	0.86243	CGT		0.373	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2		XM_042066	Missense_Mutation	11	12	0	0	0	0.008291	0	11	12		
TNPO1	3842	broad.mit.edu	37	5	72144225	72144225	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:72144225A>C	ENST00000337273.5	+	2	455	c.29A>C	c.(28-30)gAg>gCg	p.E10A	TNPO1_ENST00000523768.1_Missense_Mutation_p.E10A|TNPO1_ENST00000454282.1_Missense_Mutation_p.E10A|TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000447967.2_Missense_Mutation_p.E2A|TNPO1_ENST00000506351.2_Missense_Mutation_p.E2A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	10					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.E2A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ACCAAGATGGAGTATGAGTGG	0.562																																						uc003kck.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(28-30)GAG>GCG		transportin 1 isoform 1							87.0	80.0	83.0					5																	72144225		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72144225A>C	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.29A>C	5.37:g.72144225A>C	ENSP00000336712:p.Glu10Ala					TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.E10A|TNPO1_uc003kch.2_Missense_Mutation_p.E2A|TNPO1_uc003kci.3_Missense_Mutation_p.E2A|TNPO1_uc003kcg.3_Missense_Mutation_p.E2A	p.E10A	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	2	176	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	10					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.29A>C	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	8.310	0.821892	0.16678	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000447967;ENST00000523768;ENST00000506351	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	3.18	0.485	0.16830	Armadillo-type fold (1);	0.071159	0.52532	D	0.000067	T	0.49695	0.1572	L	0.36672	1.1	0.38217	D	0.94064	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43798	-0.9369	10	0.02654	T	1	-5.6918	7.5972	0.28054	0.8085:0.0:0.1915:0.0	.	10;10	Q92973-3;Q92973	.;TNPO1_HUMAN	A	10;10;2;10;2	ENSP00000336712:E10A;ENSP00000398524:E10A;ENSP00000415164:E2A;ENSP00000428899:E10A;ENSP00000425118:E2A	ENSP00000336712:E10A	E	+	2	0	TNPO1	72179981	1.000000	0.71417	0.991000	0.47740	0.959000	0.62525	5.910000	0.69931	-0.001000	0.14495	0.254000	0.18369	GAG		0.562	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3		NM_002270		19	5	0	0	0	0.007413	0	19	5		
WDR36	134430	broad.mit.edu	37	5	110459882	110459882	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:110459882A>T	ENST00000513710.2	+	21	2517	c.2513A>T	c.(2512-2514)aAt>aTt	p.N838I	WDR36_ENST00000506538.2_Missense_Mutation_p.N838I			Q8NI36	WDR36_HUMAN	WD repeat domain 36	838					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.N838I(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTGGTAAATAATAAGTGTAAG	0.279																																						uc003kpd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2512-2514)AAT>ATT		WD repeat domain 36							48.0	53.0	51.0					5																	110459882		2189	4280	6469	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110459882A>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2513A>T	5.37:g.110459882A>T	ENSP00000424628:p.Asn838Ile					WDR36_uc010jbu.2_Intron	p.N838I	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	21	2630	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	838					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.2513A>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983481	0.53827	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.78364	-1.17;-1.17	5.87	4.64	0.57946	Small-subunit processome, Utp21 (1);	0.259009	0.48286	D	0.000194	T	0.79627	0.4478	M	0.73962	2.25	0.80722	D	1	P	0.36027	0.533	B	0.40677	0.337	T	0.82617	-0.0369	10	0.87932	D	0	-29.5387	13.0564	0.58982	0.8661:0.1338:0.0:0.0	.	838	Q8NI36	WDR36_HUMAN	I	838	ENSP00000423067:N838I;ENSP00000424628:N838I	ENSP00000423067:N838I	N	+	2	0	WDR36	110487781	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.142000	0.58044	2.371000	0.80710	0.533000	0.62120	AAT		0.279	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3		NM_139281		14	77	0	0	0	0.004007	0	14	77		
SEMA6A	57556	broad.mit.edu	37	5	115833065	115833065	+	Silent	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:115833065A>T	ENST00000343348.6	-	4	1024	c.237T>A	c.(235-237)gtT>gtA	p.V79V	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.V79V|SEMA6A_ENST00000257414.8_Silent_p.V79V|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503962.1_5'UTR	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	79	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.V79V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTCTATATCAACAGTATAAA	0.303																																						uc010jck.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(235-237)GTT>GTA		sema domain, transmembrane domain (TM), and							73.0	67.0	69.0					5																	115833065		1821	4083	5904	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115833065A>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.237T>A	5.37:g.115833065A>T						SEMA6A_uc003krx.3_Silent_p.V79V	p.V79V	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	4	946	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	79			Sema.|Extracellular (Potential).		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.237T>A	CCDS47256.1																																																																																				0.303	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1		NM_020796		5	53	0	0	0	0.001168	0	5	53		
HSD17B4	3295	broad.mit.edu	37	5	118865646	118865646	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:118865646T>C	ENST00000256216.6	+	21	1958	c.1825T>C	c.(1825-1827)Tct>Cct	p.S609P	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.S347P|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S591P|HSD17B4_ENST00000414835.2_Missense_Mutation_p.S469P|HSD17B4_ENST00000513628.1_Missense_Mutation_p.S472P|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S585P|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S634P	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	609	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S609P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TGCACCAACATCTGGTACTTC	0.363																																					Colon(35;490 801 34689 41394 43344)	uc003ksj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1825-1827)TCT>CCT		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						105.0	99.0	101.0					5																	118865646		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118865646T>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1825T>C	5.37:g.118865646T>C	ENSP00000256216:p.Ser609Pro					HSD17B4_uc011cwg.1_Missense_Mutation_p.S585P|HSD17B4_uc011cwh.1_Missense_Mutation_p.S591P|HSD17B4_uc011cwi.1_Missense_Mutation_p.S634P|HSD17B4_uc003ksk.3_Missense_Mutation_p.S462P|HSD17B4_uc011cwj.1_Missense_Mutation_p.S462P|HSD17B4_uc010jcn.1_Missense_Mutation_p.S347P|HSD17B4_uc010jco.1_Silent_p.H77H	p.S609P	NM_000414	NP_000405	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	21	1948	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	609			Enoyl-CoA hydratase 2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1825T>C	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.161964	0.38217	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;T;T;T;D;T;T	0.82255	-1.59;-1.27;-1.22;-1.24;-1.56;-1.43;-0.9	5.82	2.03	0.26663	.	0.501324	0.23014	N	0.052939	T	0.81226	0.4778	L	0.56199	1.76	0.37935	D	0.932142	D;P;B;B;P	0.53312	0.959;0.835;0.002;0.006;0.835	P;B;B;B;B	0.51193	0.662;0.445;0.002;0.005;0.445	T	0.76782	-0.2832	10	0.30854	T	0.27	-7.5298	7.8122	0.29239	0.0:0.0715:0.4074:0.521	.	634;591;585;347;609	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	P	609;591;585;634;469;472;347	ENSP00000256216:S609P;ENSP00000424613:S591P;ENSP00000424940:S585P;ENSP00000420914:S634P;ENSP00000411960:S469P;ENSP00000425993:S472P;ENSP00000426272:S347P	ENSP00000256216:S609P	S	+	1	0	HSD17B4	118893545	0.476000	0.25901	0.568000	0.28447	0.223000	0.24884	0.556000	0.23438	0.113000	0.18004	0.482000	0.46254	TCT		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3		NM_000414		22	128	0	0	0	0.012319	0	22	128		
MATR3	9782	broad.mit.edu	37	5	138654644	138654644	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:138654644T>C	ENST00000394805.3	+	8	1691	c.1356T>C	c.(1354-1356)gaT>gaC	p.D452D	MATR3_ENST00000504203.1_Silent_p.D114D|MATR3_ENST00000502929.1_Silent_p.D452D|MATR3_ENST00000361059.2_Silent_p.D452D|MATR3_ENST00000502499.1_Silent_p.D114D|MATR3_ENST00000394800.2_Silent_p.D452D|MATR3_ENST00000509990.1_Silent_p.D452D|MATR3_ENST00000510056.1_Silent_p.D452D|MATR3_ENST00000503811.1_Silent_p.D164D	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	452	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.D452D(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGCAGTGGATTATTACACAA	0.363																																						uc003ldu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1354-1356)GAT>GAC		matrin 3							53.0	55.0	54.0					5																	138654644		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138654644T>C	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1356T>C	5.37:g.138654644T>C						MATR3_uc010jfb.2_Silent_p.D452D|MATR3_uc003ldt.2_Silent_p.D114D|MATR3_uc003ldw.2_Silent_p.D452D|MATR3_uc003ldx.2_Silent_p.D452D|MATR3_uc010jfc.2_Silent_p.D452D|MATR3_uc003ldy.2_Silent_p.D129D|MATR3_uc011czb.1_Silent_p.D164D|MATR3_uc003ldz.2_Silent_p.D452D|MATR3_uc003lea.2_Silent_p.D452D|MATR3_uc003leb.2_Silent_p.D114D|MATR3_uc003lec.2_Silent_p.D129D	p.D452D	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		11	1783	+			452			RRM 1.		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.1356T>C	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	T	9.600	1.128465	0.21041	.	.	ENSG00000015479	ENST00000515833	.	.	.	5.8	4.67	0.58626	.	.	.	.	.	T	0.45895	0.1365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48833	-0.9000	4	.	.	.	-15.9062	2.2104	0.03946	0.1372:0.1001:0.2311:0.5317	.	.	.	.	T	212	.	.	I	+	2	0	MATR3	138682543	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	0.430000	0.21428	2.219000	0.72066	0.533000	0.62120	ATT		0.363	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2		NM_018834		15	36	0	0	0	0.00245	0	15	36		
IGIP	492311	broad.mit.edu	37	5	139508200	139508200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:139508200G>A	ENST00000333305.3	+	1	2680	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	47						extracellular region (GO:0005576)		p.E47K(1)									CAGCCGGCTTGAGTTTGTTCA	0.393																																						uc003lfb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(139-141)GAG>AAG		IgA-inducing protein precursor							126.0	117.0	120.0					5																	139508200		2203	4300	6503	SO:0001583	missense	492311					extracellular region		g.chr5:139508200G>A	AB073888, BC017422, BC041380	CCDS34244.1	5q31	2013-08-06	2013-08-06	2011-09-22	ENSG00000182700	ENSG00000182700			33847	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 53"", ""IgA-inducing protein homolog (Bos taurus)"""	C5orf53		19201837, 12874223, 21074276	Standard	NM_001007189		Approved	LOC492311	uc003lfb.1	A6NJ69	OTTHUMG00000163359	ENST00000333305.3:c.139G>A	5.37:g.139508200G>A	ENSP00000327344:p.Glu47Lys						p.E47K	NM_001007189	NP_001007190	A6NJ69	IGIP_HUMAN			1	2680	+			47						Missense_Mutation	SNP	ENST00000333305.3	37	c.139G>A	CCDS34244.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232639	0.39498	.	.	ENSG00000182700	ENST00000333305	.	.	.	5.33	5.33	0.75918	.	0.000000	0.43260	D	0.000594	T	0.65080	0.2657	.	.	.	0.29144	N	0.878819	D	0.60575	0.988	P	0.62885	0.908	T	0.64236	-0.6455	8	0.87932	D	0	-1.5676	14.4	0.67037	0.0:0.0:1.0:0.0	.	47	A6NJ69	IGIP_HUMAN	K	47	.	ENSP00000327344:E47K	E	+	1	0	C5orf53	139488384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.763000	0.62257	2.781000	0.95711	0.650000	0.86243	GAG		0.393	IGIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372850.1		NM_001007189		21	67	0	0	0	0.010504	0	21	67		
PCDHA4	56144	broad.mit.edu	37	5	140186836	140186836	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:140186836G>A	ENST00000530339.1	+	1	64	c.64G>A	c.(64-66)Gca>Aca	p.A22T	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A22T|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A22T	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	22					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A22T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTCCTCGCAGCCTGGGA	0.572																																						uc003lhi.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.(64-66)GCA>ACA		protocadherin alpha 4 isoform 1 precursor							68.0	76.0	73.0					5																	140186836		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140186836G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.64G>A	5.37:g.140186836G>A	ENSP00000435300:p.Ala22Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A22T|PCDHA4_uc011daa.1_Missense_Mutation_p.A22T	p.A22T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	165	+			22					O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.64G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	9.940	1.217156	0.22373	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51574	0.79;0.7;0.74	4.55	-0.712	0.11226	.	0.665977	0.12245	U	0.486199	T	0.22742	0.0549	N	0.17312	0.475	0.09310	N	1	B;B;B	0.20780	0.048;0.006;0.01	B;B;B	0.26693	0.072;0.008;0.01	T	0.29150	-1.0021	10	0.05833	T	0.94	.	4.1296	0.10143	0.3539:0.0:0.3968:0.2493	.	22;22;22	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	22	ENSP00000423470:A22T;ENSP00000349344:A22T;ENSP00000435300:A22T	ENSP00000349344:A22T	A	+	1	0	PCDHA4	140167020	0.014000	0.17966	0.009000	0.14445	0.017000	0.09413	0.282000	0.18829	-0.121000	0.11787	-0.353000	0.07706	GCA		0.572	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2		NM_018907		31	96	0	0	0	0.009535	0	31	96		
KCTD16	57528	broad.mit.edu	37	5	143586786	143586786	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:143586786A>G	ENST00000507359.3	+	2	1600	c.509A>G	c.(508-510)tAc>tGc	p.Y170C	KCTD16_ENST00000512467.1_Missense_Mutation_p.Y170C	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	170					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.Y170C(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ACTGTGGGTTACAGAGGATCC	0.537																																						uc003lnm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(508-510)TAC>TGC		potassium channel tetramerisation domain							66.0	70.0	69.0					5																	143586786		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586786A>G	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.509A>G	5.37:g.143586786A>G	ENSP00000426548:p.Tyr170Cys					KCTD16_uc003lnn.1_Missense_Mutation_p.Y170C	p.Y170C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	1138	+		all_hematologic(541;0.118)	170					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.509A>G	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700650	0.68501	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.56103	0.48;0.48	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.71206	2.165	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.70124	-0.4958	10	0.59425	D	0.04	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	170	Q68DU8	KCD16_HUMAN	C	170	ENSP00000424151:Y170C;ENSP00000426548:Y170C	ENSP00000426548:Y170C	Y	+	2	0	KCTD16	143566979	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.281000	0.95811	2.271000	0.75665	0.459000	0.35465	TAC		0.537	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3		XM_098368		36	28	0	0	0	0.003755	0	36	28		
NSD1	64324	broad.mit.edu	37	5	176707662	176707662	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	WGS			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:176707662A>G	ENST00000439151.2	+	18	5764	c.5719A>G	c.(5719-5721)Ata>Gta	p.I1907V	NSD1_ENST00000354179.4_Missense_Mutation_p.I1638V|NSD1_ENST00000347982.4_Missense_Mutation_p.I1638V|NSD1_ENST00000361032.4_Missense_Mutation_p.I1804V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1907	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.I1907V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCCTGTGGGATAGACTCTGA	0.522			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|kidney(1)	3						c.(5719-5721)ATA>GTA		nuclear receptor binding SET domain protein 1							95.0	87.0	90.0					5																	176707662		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707662A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5719A>G	5.37:g.176707662A>G	ENSP00000395929:p.Ile1907Val	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.I1638V|NSD1_uc003mfs.1_Missense_Mutation_p.I1804V|NSD1_uc011dfx.1_Missense_Mutation_p.I1555V	p.I1907V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5857	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1907			AWS.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5719A>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959739	0.34565	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.68	3.32	0.38043	AWS (2);	0.101212	0.44285	D	0.000472	T	0.68256	0.2981	N	0.02011	-0.69	0.29417	N	0.860847	B;B;B	0.17465	0.022;0.022;0.004	B;B;B	0.19148	0.024;0.024;0.01	T	0.59456	-0.7451	10	0.20519	T	0.43	.	5.5289	0.16972	0.5503:0.2834:0.1663:0.0	.	1638;1804;1907	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	V	1638;1907;1638;1804	ENSP00000346111:I1638V;ENSP00000395929:I1907V;ENSP00000343209:I1638V;ENSP00000354310:I1804V	ENSP00000343209:I1638V	I	+	1	0	NSD1	176640268	0.678000	0.27586	0.938000	0.37757	0.772000	0.43724	1.480000	0.35464	0.982000	0.38575	0.528000	0.53228	ATA		0.522	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		35	37	0	0	0	0.003271	0	35	37		
B4GALT7	11285	broad.mit.edu	37	5	177034458	177034458	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:177034458T>G	ENST00000029410.5	+	3	680	c.569T>G	c.(568-570)cTc>cGc	p.L190R		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	190					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)	p.L190R(1)		endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGAGCTCCACCCTCTC	0.617											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mhy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(568-570)CTC>CGC		xylosylprotein beta 1,4-galactosyltransferase 7							106.0	83.0	91.0					5																	177034458		2203	4300	6503	SO:0001583	missense	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177034458T>G	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.569T>G	5.37:g.177034458T>G	ENSP00000029410:p.Leu190Arg		OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1935	B4GALT7_uc003mhz.2_Missense_Mutation_p.L76R	p.L190R	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	609	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	190			Lumenal (Potential).		B3KN39|Q9UHN2	Missense_Mutation	SNP	ENST00000029410.5	37	c.569T>G	CCDS4429.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612897	0.87258	.	.	ENSG00000027847	ENST00000029410;ENST00000541139	T	0.35605	1.3	5.02	5.02	0.67125	.	0.129893	0.53938	D	0.000056	T	0.59211	0.2177	M	0.89840	3.065	0.80722	D	1	D	0.55605	0.972	P	0.55112	0.769	T	0.67601	-0.5629	10	0.52906	T	0.07	-21.4561	12.7086	0.57076	0.0:0.0:0.0:1.0	.	190	Q9UBV7	B4GT7_HUMAN	R	190;76	ENSP00000029410:L190R	ENSP00000029410:L190R	L	+	2	0	B4GALT7	176967064	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.367000	0.79558	1.886000	0.54624	0.255000	0.18592	CTC		0.617	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1		NM_007255		8	27	0	0	0	0.00308	0	8	27		
PHYKPL	85007	broad.mit.edu	37	5	177637274	177637274	+	Intron	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:177637274G>A	ENST00000308158.5	-	13	1619				HNRNPAB_ENST00000506259.1_Intron|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000515193.1_Intron|HNRNPAB_ENST00000506339.1_Splice_Site|HNRNPAB_ENST00000514633.1_Intron|HNRNPAB_ENST00000355836.5_Intron|HNRNPAB_ENST00000358344.3_Splice_Site|HNRNPAB_ENST00000504898.1_Splice_Site	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.?(1)								L-Alanine(DB00160)	TACGACTACAGTAAGTAGGAG	0.637																																						uc003miu.2		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e7+1		heterogeneous nuclear ribonucleoprotein A/B							31.0	34.0	33.0					5																	177637274		2203	4300	6503	SO:0001627	intron_variant	3182				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr5:177637274G>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1351-1358C>T	5.37:g.177637274G>A						HNRNPAB_uc003miv.2_Intron|HNRNPAB_uc010jks.2_Intron|HNRNPAB_uc003miw.2_Splice_Site_p.S310_splice|HNRNPAB_uc003mix.2_Intron|AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Intron|AGXT2L2_uc003miz.2_Intron|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Intron	p.S310_splice	NM_031266	NP_112556	Q99729	ROAA_HUMAN			7	1185	+								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Splice_Site	SNP	ENST00000308158.5	37	c.928_splice	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508212	0.64410	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000504898	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8634	0.86023	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HNRNPAB	177569880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.015000	0.76387	2.578000	0.87016	0.655000	0.94253	.		0.637	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1		NM_032921		10	6	0	0	0	0.001368	0	10	6		
HIST1H3A	8350	broad.mit.edu	37	6	26020953	26020953	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:26020953T>G	ENST00000357647.3	+	1	236	c.236T>G	c.(235-237)tTt>tGt	p.F79C	HIST1H4A_ENST00000359907.3_5'Flank|HIST1H1A_ENST00000244573.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	79					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)	p.F79C(1)		endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCGCAGGACTTTAAAACAGAC	0.562																																						uc003nfp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(235-237)TTT>TGT		histone cluster 1, H3a							43.0	46.0	45.0					6																	26020953		2203	4300	6503	SO:0001583	missense	8350				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26020953T>G	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.236T>G	6.37:g.26020953T>G	ENSP00000350275:p.Phe79Cys					HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank	p.F79C	NM_003529	NP_003520	P68431	H31_HUMAN			1	236	+			79					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000357647.3	37	c.236T>G	CCDS4570.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.988048	0.35036	.	.	ENSG00000198366	ENST00000357647	T	0.46451	0.87	3.51	3.51	0.40186	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.63965	0.2556	M	0.93150	3.385	0.43326	D	0.995358	D	0.71674	0.998	D	0.68621	0.959	T	0.74334	-0.3699	9	0.87932	D	0	.	12.2602	0.54647	0.0:0.0:0.0:1.0	.	79	P68431	H31_HUMAN	C	79	ENSP00000350275:F79C	ENSP00000350275:F79C	F	+	2	0	HIST1H3A	26128932	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	7.497000	0.81536	1.838000	0.53458	0.455000	0.32223	TTT		0.562	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1		NM_003529		13	25	0	0	0	0.006122	0	13	25		
SLC44A4	80736	broad.mit.edu	37	6	31831441	31831441	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:31831441T>A	ENST00000229729.6	-	21	2116	c.2096A>T	c.(2095-2097)aAc>aTc	p.N699I	SLC44A4_ENST00000375562.4_Missense_Mutation_p.N657I|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Missense_Mutation_p.N623I	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	699					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N699I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGGCGCCTCGTTCTTCTTGCC	0.597																																						uc010jti.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(2095-2097)AAC>ATC		choline transporter-like protein 4	Choline(DB00122)						66.0	60.0	62.0					6																	31831441		1511	2709	4220	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31831441T>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2096A>T	6.37:g.31831441T>A	ENSP00000229729:p.Asn699Ile					NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	p.N699I	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			21	2162	-			699			Cytoplasmic (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.2096A>T	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511116	0.85389	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.14266	2.88;2.52;2.71	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.88241	2.94	0.80722	D	1	P	0.47604	0.898	P	0.48952	0.596	T	0.09079	-1.0691	10	0.87932	D	0	-31.738	14.5986	0.68424	0.0:0.0:0.0:1.0	.	699	Q53GD3	CTL4_HUMAN	I	699;657;623	ENSP00000229729:N699I;ENSP00000364712:N657I;ENSP00000444109:N623I	ENSP00000229729:N699I	N	-	2	0	SLC44A4	31939420	1.000000	0.71417	0.980000	0.43619	0.680000	0.39746	4.415000	0.59809	2.279000	0.76181	0.533000	0.62120	AAC		0.597	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3				15	22	0	0	0	0.003163	0	15	22		
CFB	629	broad.mit.edu	37	6	31919363	31919363	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:31919363G>A	ENST00000425368.2	+	17	2634	c.2121G>A	c.(2119-2121)aaG>aaA	p.K707K	CFB_ENST00000456570.1_Silent_p.K1209K|CFB_ENST00000556679.1_Silent_p.K1209K|CFB_ENST00000477310.1_Silent_p.K1058K	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	707	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.K707K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TAGTTCACAAGAGAAGTCGTT	0.512																																						uc003nyj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(2119-2121)AAG>AAA		complement factor B preproprotein							200.0	193.0	196.0					6																	31919363		2203	4300	6503	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31919363G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.2121G>A	6.37:g.31919363G>A						CFB_uc011dor.1_Silent_p.K1209K	p.K707K	NM_001710	NP_001701	P00751	CFAB_HUMAN			17	2399	+			707			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	c.2121G>A	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.021|8.021	0.759619|0.759619	0.15846|0.15846	.|.	.|.	ENSG00000243649|ENSG00000243649	ENST00000498317|ENST00000483004	.|.	.|.	.|.	5.63|5.63	4.77|4.77	0.60923|0.60923	.|.	.|.	.|.	.|.	.|.	T|T	0.47525|0.47525	0.1450|0.1450	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50004|0.50004	-0.8878|-0.8878	4|4	.|.	.|.	.|.	-30.3231|-30.3231	9.2289|9.2289	0.37425|0.37425	0.164:0.0:0.836:0.0|0.164:0.0:0.836:0.0	.|.	.|.	.|.	.|.	K|K	31|248	.|.	.|.	E|R	+|+	1|2	0|0	CFB|CFB	32027342|32027342	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.916000|0.916000	0.54674|0.54674	1.834000|1.834000	0.39171|0.39171	1.546000|1.546000	0.49388|0.49388	-0.119000|-0.119000	0.15052|0.15052	GAG|AGA		0.512	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3		NM_001710		65	164	0	0	0	0.00361	0	65	164		
PSMB8	5696	broad.mit.edu	37	6	32808759	32808759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:32808759G>A	ENST00000374882.3	-	6	858	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	PSMB8_ENST00000374881.2_Nonsense_Mutation_p.Q266*|TAP2_ENST00000374899.4_5'Flank|TAP2_ENST00000374897.2_5'Flank|PSMB8_ENST00000395339.3_Nonsense_Mutation_p.Q246*|TAP2_ENST00000452392.2_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	270					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.Q270*(1)|p.Q266*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TCCCGGTACTGGTGCAGCAGG	0.512																																					NSCLC(48;53 1172 10859 13624 22883)	uc003oce.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	skin(1)	1						c.(808-810)CAG>TAG		proteasome beta 8 subunit isoform E2 proprotein							168.0	137.0	148.0					6																	32808759		2203	4300	6503	SO:0001587	stop_gained	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32808759G>A		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.808C>T	6.37:g.32808759G>A	ENSP00000364016:p.Gln270*					TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003occ.2_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Nonsense_Mutation_p.Q266*	p.Q270*	NM_148919	NP_683720	P28062	PSB8_HUMAN			6	851	-			270					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Nonsense_Mutation	SNP	ENST00000374882.3	37	c.808C>T	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540954	0.85917	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	.	.	.	5.3	1.08	0.20341	.	0.697840	0.15102	N	0.280470	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.192	7.3012	0.26422	0.0847:0.0:0.3244:0.5909	.	.	.	.	X	246;270;266	.	ENSP00000364015:Q266X	Q	-	1	0	PSMB8	32916737	0.994000	0.37717	0.999000	0.59377	0.325000	0.28411	0.143000	0.16115	0.546000	0.28920	0.643000	0.83706	CAG		0.512	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3		NM_148919		49	48	0	0	0	0.00361	0	49	48		
BRD2	6046	broad.mit.edu	37	6	32945996	32945996	+	Silent	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:32945996C>A	ENST00000374825.4	+	10	3373	c.1672C>A	c.(1672-1674)Cgg>Agg	p.R558R	BRD2_ENST00000395289.2_Silent_p.R558R|BRD2_ENST00000374831.4_Silent_p.R558R|BRD2_ENST00000449085.2_Silent_p.R511R|BRD2_ENST00000395287.1_Silent_p.R558R|BRD2_ENST00000443797.2_Silent_p.R438R	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	558	Arg/Lys-rich (highly basic).|Poly-Lys.		R -> G (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.R558R(1)		central_nervous_system(3)|stomach(2)	5						AAAGAAGAAACGGAAGGCAGA	0.527																																						uc003ocn.3		NaN																	1	Substitution - coding silent(1)	p.R558G(1)	urinary_tract(1)	central_nervous_system(3)|stomach(2)	5						c.(1672-1674)CGG>AGG		bromodomain containing 2							64.0	71.0	69.0					6																	32945996		1509	2709	4218	SO:0001819	synonymous_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32945996C>A	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1672C>A	6.37:g.32945996C>A						BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.R558R|BRD2_uc003ocp.3_Silent_p.R438R|BRD2_uc010juh.2_Silent_p.R558R	p.R558R	NM_005104	NP_005095	P25440	BRD2_HUMAN			10	3373	+			558		R -> G (in a gastric adenocarcinoma sample; somatic mutation).	Poly-Lys.|Nuclear localization signal (Potential).|Arg/Lys-rich (highly basic).		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	37	c.1672C>A	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496927	0.26861	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.24	4.35	0.52113	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51545	-0.8692	4	.	.	.	-12.1888	10.9273	0.47197	0.1871:0.8129:0.0:0.0	.	.	.	.	K	563	.	.	N	+	3	2	BRD2	33053974	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.867000	0.39499	1.398000	0.46701	0.549000	0.68633	AAC		0.527	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2				12	63	1	0	1.08611e-07	0.010729	1.15606e-07	12	63		
B3GALT4	8705	broad.mit.edu	37	6	33245680	33245680	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:33245680G>T	ENST00000451237.1	+	1	764	c.484G>T	c.(484-486)Gag>Tag	p.E162*		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	162					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.E162*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GAACTGGGCTGAGAAACACTG	0.607																																						uc003odr.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(484-486)GAG>TAG		UDP-Gal:betaGlcNAc beta							68.0	73.0	71.0					6																	33245680		2203	4300	6503	SO:0001587	stop_gained	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245680G>T	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.484G>T	6.37:g.33245680G>T	ENSP00000390784:p.Glu162*						p.E162*	NM_003782	NP_003773	O96024	B3GT4_HUMAN			1	764	+			162			Lumenal (Potential).			Nonsense_Mutation	SNP	ENST00000451237.1	37	c.484G>T	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333137	0.81801	.	.	ENSG00000235863	ENST00000451237	.	.	.	4.82	-2.96	0.05547	.	0.787952	0.11852	N	0.523264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	0.6226	0.00780	0.2498:0.1184:0.2734:0.3584	.	.	.	.	X	162	.	ENSP00000390784:E162X	E	+	1	0	B3GALT4	33353658	0.000000	0.05858	0.000000	0.03702	0.406000	0.30931	-0.227000	0.09126	-0.888000	0.03956	0.643000	0.83706	GAG		0.607	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2				25	77	1	0	4.26978e-12	0.00333	4.72081e-12	25	77		
MDFI	4188	broad.mit.edu	37	6	41621154	41621154	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:41621154G>C	ENST00000373050.4	+	4	586	c.399G>C	c.(397-399)tcG>tcC	p.S133S				Q99750	MDFI_HUMAN	MyoD family inhibitor	194					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S194S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCTGCAGCTCGGAGGACTCGT	0.647																																						uc003oqp.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(580-582)TCG>TCC		MyoD family inhibitor							100.0	77.0	85.0					6																	41621154		2203	4300	6503	SO:0001819	synonymous_variant	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621154G>C	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.399G>C	6.37:g.41621154G>C						MDFI_uc003oqq.3_Silent_p.S194S|MDFI_uc010jxn.2_Silent_p.S194S	p.S194S	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		6	911	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		194			Cys-rich.			Silent	SNP	ENST00000373050.4	37	c.582G>C																																																																																					0.647	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2		NM_005586		9	14	0	0	0	0.00499	0	9	14		
C6orf223	221416	broad.mit.edu	37	6	43970834	43970834	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:43970834C>T	ENST00000336600.5	+	4	720	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	C6orf223_ENST00000442114.2_Missense_Mutation_p.R214C|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	234								p.R234C(1)		central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGCGGCGCTCCGCGGCGCTGG	0.667																																						uc003own.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(700-702)CGC>TGC		hypothetical protein LOC221416							19.0	24.0	22.0					6																	43970834		2189	4282	6471	SO:0001583	missense	221416							g.chr6:43970834C>T	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.700C>T	6.37:g.43970834C>T	ENSP00000426159:p.Arg234Cys					uc003owm.1_Intron|C6orf223_uc003owo.2_Missense_Mutation_p.R214C	p.R234C	NM_153246	NP_694978	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	718	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		234					E9PB59|Q8N575	Missense_Mutation	SNP	ENST00000336600.5	37	c.700C>T	CCDS34459.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599493	0.28534	.	.	ENSG00000181577	ENST00000336600	T	0.40756	1.02	2.9	-5.79	0.02354	.	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	0.99999	B	0.15141	0.012	B	0.06405	0.002	T	0.18304	-1.0341	9	0.87932	D	0	.	0.0202	0.00003	0.3145:0.1917:0.206:0.2878	.	234	Q8N319	CF223_HUMAN	C	234	ENSP00000426159:R234C	ENSP00000426159:R234C	R	+	1	0	C6orf223	44078812	0.000000	0.05858	0.000000	0.03702	0.859000	0.49053	-4.119000	0.00291	-3.386000	0.00174	0.491000	0.48974	CGC		0.667	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3		NM_153246		5	9	0	0	0	0.004482	0	5	9		
DST	667	broad.mit.edu	37	6	56325021	56325021	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:56325021A>T	ENST00000361203.3	-	97	22038	c.22031T>A	c.(22030-22032)cTt>cAt	p.L7344H	DST_ENST00000370769.4_Missense_Mutation_p.L7455H|DST_ENST00000370788.2_Missense_Mutation_p.L5258H|DST_ENST00000370754.5_Missense_Mutation_p.L7633H|DST_ENST00000446842.2_Missense_Mutation_p.L7129H|DST_ENST00000244364.6_Missense_Mutation_p.L5054H|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.L5340H			Q03001	DYST_HUMAN	dystonin	7453	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L7428H(1)|p.L5054H(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATCCTGGAAGTCGAAGCTT	0.463																																						uc003pdf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(16672-16674)CTT>CAT		dystonin isoform 2							99.0	100.0	100.0					6																	56325021		1921	4135	6056	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56325021A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22031T>A	6.37:g.56325021A>T	ENSP00000354508:p.Leu7344His					DST_uc003pcz.3_Missense_Mutation_p.L5380H|DST_uc011dxj.1_Missense_Mutation_p.L5409H|DST_uc011dxk.1_Missense_Mutation_p.L5420H|DST_uc003pcy.3_Missense_Mutation_p.L5054H|DST_uc003pcv.3_Missense_Mutation_p.L176H|DST_uc003pcw.3_Missense_Mutation_p.L137H|DST_uc003pcx.3_Missense_Mutation_p.L100H	p.L5558H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		96	16701	-	Lung NSC(77;0.103)		7453					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16673T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.47|18.47	3.630993|3.630993	0.67015|0.67015	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.65178	.|0.89;-0.13;-0.14;-0.01;0.81;-0.01;-0.08	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.48286	.|D	.|0.000195	T|T	0.74489|0.74489	0.3723|0.3723	M|M	0.72118|0.72118	2.19|2.19	.|0.34456	.|D	.|0.701186	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.996;1.0;1.0;0.962	.|D;D;D;D;D;D;D;P	.|0.91635	.|0.972;0.999;0.999;0.972;0.94;0.998;0.979;0.634	T|T	0.76798|0.76798	-0.2826|-0.2826	4|9	.|0.59425	.|D	.|0.04	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|5340;7455;7633;7453;5054;141;141;5258	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	I|H	142|5054;7633;7455;5340;7129;5258;7344	.|ENSP00000244364:L5054H;ENSP00000359790:L7633H;ENSP00000359805:L7455H;ENSP00000400883:L5340H;ENSP00000393645:L7129H;ENSP00000359824:L5258H;ENSP00000354508:L7344H	.|ENSP00000244364:L5054H	F|L	-|-	1|2	0|0	DST|DST	56432980|56432980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	8.962000|8.962000	0.93254|0.93254	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.463	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		19	25	0	0	0	0.010504	0	19	25		
PHIP	55023	broad.mit.edu	37	6	79655145	79655145	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:79655145C>G	ENST00000275034.4	-	39	4867	c.4700G>C	c.(4699-4701)aGt>aCt	p.S1567T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1567					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.S1567T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGTGCCATGACTAAAACTGGA	0.348																																						uc003pir.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(4699-4701)AGT>ACT		pleckstrin homology domain interacting protein							130.0	122.0	125.0					6																	79655145		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655145C>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4700G>C	6.37:g.79655145C>G	ENSP00000275034:p.Ser1567Thr					PHIP_uc003piq.2_Missense_Mutation_p.S591T|PHIP_uc011dyp.1_Missense_Mutation_p.S1566T|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.S453T	p.S1567T	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	39	4926	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1567					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4700G>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	5.904	0.350952	0.11182	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.39997	1.05	5.73	3.9	0.45041	.	0.235179	0.45126	N	0.000395	T	0.09379	0.0231	N	0.19112	0.55	0.33563	D	0.597552	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16600	-1.0397	9	.	.	.	-7.0568	5.6685	0.17709	0.1473:0.638:0.1416:0.0732	.	1567;1567	A7J992;Q8WWQ0	.;PHIP_HUMAN	T	1567;293	ENSP00000275034:S1567T	.	S	-	2	0	PHIP	79711864	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	1.539000	0.36104	0.730000	0.32425	-0.311000	0.09066	AGT		0.348	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2				16	39	0	0	0	0.004007	0	16	39		
IBTK	25998	broad.mit.edu	37	6	82910359	82910359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:82910359C>T	ENST00000306270.7	-	20	3406	c.2857G>A	c.(2857-2859)Gta>Ata	p.V953I	IBTK_ENST00000510291.1_Missense_Mutation_p.V953I|IBTK_ENST00000503631.1_Missense_Mutation_p.V752I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	953					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.V953I(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCATCTTCTACTTCCAAATAG	0.313																																						uc003pjl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)	4						c.(2857-2859)GTA>ATA		inhibitor of Bruton's tyrosine kinase							62.0	62.0	62.0					6																	82910359		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82910359C>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2857G>A	6.37:g.82910359C>T	ENSP00000305721:p.Val953Ile					IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.V953I|IBTK_uc011dyw.1_Missense_Mutation_p.V752I|IBTK_uc010kbi.1_Missense_Mutation_p.V647I|IBTK_uc003pjm.2_Missense_Mutation_p.V953I	p.V953I	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	20	3384	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	953					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2857G>A	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876619	0.33162	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.27256	2.01;1.68;2.01	5.56	-1.59	0.08453	.	0.631105	0.16885	N	0.195530	T	0.03434	0.0099	N	0.22421	0.69	0.20638	N	0.999872	P;B;B;B	0.38078	0.617;0.015;0.063;0.015	B;B;B;B	0.32533	0.147;0.009;0.02;0.009	T	0.33574	-0.9863	10	0.36615	T	0.2	-1.7346	2.5304	0.04702	0.0966:0.2488:0.2461:0.4085	.	752;953;953;953	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	I	953;752;953	ENSP00000305721:V953I;ENSP00000422762:V752I;ENSP00000426405:V953I	ENSP00000305721:V953I	V	-	1	0	IBTK	82967078	0.890000	0.30428	0.621000	0.29145	0.994000	0.84299	0.011000	0.13264	-0.757000	0.04697	-0.136000	0.14681	GTA		0.313	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2		NM_015525		16	12	0	0	0	0.003163	0	16	12		
ZNF292	23036	broad.mit.edu	37	6	87970340	87970340	+	Silent	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:87970340C>G	ENST00000369577.3	+	8	7036	c.6993C>G	c.(6991-6993)ccC>ccG	p.P2331P	ZNF292_ENST00000339907.4_Silent_p.P2326P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2331						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P2186P(1)|p.P2331P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAAATGCCCAAGACCAAAC	0.378																																						uc003plm.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)	4						c.(6991-6993)CCC>CCG		zinc finger protein 292							40.0	43.0	42.0					6																	87970340		1852	4082	5934	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970340C>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6993C>G	6.37:g.87970340C>G							p.P2331P	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7034	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2331					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.6993C>G	CCDS47457.1																																																																																				0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2		NM_015021		14	12	0	0	0	0.003163	0	14	12		
PRDM1	639	broad.mit.edu	37	6	106547284	106547284	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:106547284C>A	ENST00000369096.4	+	4	755	c.521C>A	c.(520-522)gCt>gAt	p.A174D	PRDM1_ENST00000369089.3_Missense_Mutation_p.A40D|PRDM1_ENST00000369091.2_Missense_Mutation_p.A138D|RP1-134E15.3_ENST00000602426.1_RNA	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	174	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A138D(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAAAACCTGGCTGCGTGTCAG	0.502			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2		NaN		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		1	Substitution - Missense(1)	p.Y174*(1)	urinary_tract(1)	haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(520-522)GCT>GAT		PR domain containing 1, with ZNF domain isoform							105.0	95.0	99.0					6																	106547284		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106547284C>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.521C>A	6.37:g.106547284C>A	ENSP00000358092:p.Ala174Asp					PRDM1_uc003pre.2_Missense_Mutation_p.A40D	p.A174D	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	4	755	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	174			SET.		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.521C>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072444	0.76415	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;D;D	0.81739	-0.71;-0.71;-1.53;-1.53	5.61	5.61	0.85477	SET domain (3);	0.332842	0.33854	N	0.004491	D	0.85656	0.5747	L	0.46885	1.475	0.54753	D	0.999986	D;D	0.76494	0.986;0.999	P;D	0.83275	0.837;0.996	D	0.86566	0.1844	10	0.87932	D	0	-15.1224	19.6236	0.95670	0.0:1.0:0.0:0.0	.	40;174	Q86WM7;O75626	.;PRDM1_HUMAN	D	138;174;138;53;40	ENSP00000358087:A138D;ENSP00000358092:A174D;ENSP00000399772:A53D;ENSP00000358085:A40D	ENSP00000358085:A40D	A	+	2	0	PRDM1	106653977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.970000	0.63742	2.636000	0.89361	0.585000	0.79938	GCT		0.502	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3				23	37	1	0	1.22574e-08	0.002299	1.32718e-08	23	37		
IL20RA	53832	broad.mit.edu	37	6	137325794	137325794	+	Silent	SNP	A	A	G	rs551010767		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:137325794A>G	ENST00000316649.5	-	6	1063	c.828T>C	c.(826-828)taT>taC	p.Y276Y	IL20RA_ENST00000541547.1_Silent_p.Y227Y|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367748.1_Silent_p.Y165Y	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	276					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.Y276Y(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAACGTGGATATATCGGTAGA	0.413													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17123	0.0		0.0	False		,,,				2504	0.0					uc003qhj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(826-828)TAT>TAC		interleukin 20 receptor, alpha precursor							138.0	145.0	143.0					6																	137325794		2203	4300	6503	SO:0001819	synonymous_variant	53832					integral to membrane	receptor activity	g.chr6:137325794A>G	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.828T>C	6.37:g.137325794A>G						IL20RA_uc011edl.1_Silent_p.Y227Y|IL20RA_uc003qhk.2_Silent_p.Y165Y|IL20RA_uc003qhi.2_Silent_p.Y8Y	p.Y276Y	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1261	-	Colorectal(23;0.24)		276			Cytoplasmic (Potential).		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Silent	SNP	ENST00000316649.5	37	c.828T>C	CCDS5181.1																																																																																				0.413	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1		NM_014432		134	77	0	0	0	0.00361	0	134	77		
HIVEP2	3097	broad.mit.edu	37	6	143092722	143092722	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:143092722C>G	ENST00000367604.1	-	4	3793	c.3154G>C	c.(3154-3156)Gat>Cat	p.D1052H	HIVEP2_ENST00000367603.2_Missense_Mutation_p.D1052H|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1052H			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1052					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D1052H(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCCCATAATCAAATGATTTG	0.557																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3154-3156)GAT>CAT		human immunodeficiency virus type I enhancer							36.0	38.0	37.0					6																	143092722		1987	4173	6160	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092722C>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3154G>C	6.37:g.143092722C>G	ENSP00000356576:p.Asp1052His						p.D1052H	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	3897	-			1052					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.3154G>C	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709700	0.89018	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.26957	1.7;1.7;1.7	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58504	-0.7625	10	0.87932	D	0	-19.1196	20.0609	0.97674	0.0:1.0:0.0:0.0	.	1052	P31629	ZEP2_HUMAN	H	1052	ENSP00000356576:D1052H;ENSP00000356575:D1052H;ENSP00000012134:D1052H	ENSP00000012134:D1052H	D	-	1	0	HIVEP2	143134415	1.000000	0.71417	0.978000	0.43139	0.970000	0.65996	7.818000	0.86416	2.755000	0.94549	0.655000	0.94253	GAT		0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1				33	22	0	0	0	0.012213	0	33	22		
SYTL3	94120	broad.mit.edu	37	6	159181706	159181706	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:159181706A>C	ENST00000297239.9	+	14	1537	c.1343A>C	c.(1342-1344)aAt>aCt	p.N448T	SYTL3_ENST00000360448.3_Missense_Mutation_p.N380T|SYTL3_ENST00000367081.3_Missense_Mutation_p.N174T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	448					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.N380T(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCTCAGAGTAATGGAGAGCTC	0.557																																						uc003qrp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1342-1344)AAT>ACT		synaptotagmin-like 3							126.0	116.0	120.0					6																	159181706		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159181706A>C	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1343A>C	6.37:g.159181706A>C	ENSP00000297239:p.Asn448Thr					SYTL3_uc011efp.1_Missense_Mutation_p.N448T|SYTL3_uc003qro.2_Missense_Mutation_p.N380T|SYTL3_uc003qrq.2_Missense_Mutation_p.N380T|SYTL3_uc003qrr.2_Missense_Mutation_p.N448T|SYTL3_uc003qrs.2_Missense_Mutation_p.N380T|SYTL3_uc011efq.1_Missense_Mutation_p.N174T	p.N448T	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	14	1587	+		Breast(66;0.000776)|Ovarian(120;0.0303)	448					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1343A>C	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	A	6.498	0.460054	0.12342	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.64085	2.19;2.19;-0.08	4.3	1.88	0.25563	.	0.700090	0.15304	N	0.269460	T	0.41003	0.1140	M	0.68317	2.08	0.20926	N	0.999826	P;B;P	0.37423	0.458;0.384;0.594	B;B;B	0.42522	0.194;0.096;0.39	T	0.38045	-0.9679	10	0.45353	T	0.12	.	3.5267	0.07761	0.5986:0.1998:0.2016:0.0	.	174;448;380	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	T	380;448;448;174	ENSP00000353631:N380T;ENSP00000297239:N448T;ENSP00000356048:N174T	ENSP00000297239:N448T	N	+	2	0	SYTL3	159101694	0.041000	0.20044	0.040000	0.18447	0.008000	0.06430	0.534000	0.23098	0.413000	0.25759	0.533000	0.62120	AAT		0.557	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1				19	65	0	0	0	0.010504	0	19	65		
IGF2R	3482	broad.mit.edu	37	6	160483635	160483635	+	Silent	SNP	C	C	G	rs375087362		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:160483635C>G	ENST00000356956.1	+	26	3802	c.3654C>G	c.(3652-3654)ccC>ccG	p.P1218P		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1218					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.P1218P(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAGCCTGTCCCGTTGTCAGAG	0.463																																						uc003qta.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(3652-3654)CCC>CCG		insulin-like growth factor 2 receptor precursor							125.0	106.0	113.0					6																	160483635		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160483635C>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3654C>G	6.37:g.160483635C>G							p.P1218P	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	26	3802	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1218			8.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.3654C>G	CCDS5273.1																																																																																				0.463	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876		16	27	0	0	0	0.006122	0	16	27		
INTS1	26173	broad.mit.edu	37	7	1527588	1527588	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:1527588T>C	ENST00000404767.3	-	19	2409	c.2324A>G	c.(2323-2325)tAc>tGc	p.Y775C	INTS1_ENST00000389470.4_Missense_Mutation_p.Y903C	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	775					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.Y903C(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGGTAGGAGTAGTTGCTAGG	0.652																																						uc003skn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2323-2325)TAC>TGC		integrator complex subunit 1							108.0	119.0	115.0					7																	1527588		2098	4216	6314	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1527588T>C	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2324A>G	7.37:g.1527588T>C	ENSP00000385722:p.Tyr775Cys					INTS1_uc003skp.1_Missense_Mutation_p.Y122C	p.Y775C	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	19	2425	-		Ovarian(82;0.0253)	775					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.2324A>G	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071200	0.55646	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.54071	0.64;0.59	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.73708	0.971;0.981	T	0.70898	-0.4747	10	0.87932	D	0	.	14.2324	0.65903	0.0:0.0:0.0:1.0	.	903;775	A4D213;Q8N201	.;INT1_HUMAN	C	775;903	ENSP00000385722:Y775C;ENSP00000374121:Y903C	ENSP00000374121:Y903C	Y	-	2	0	INTS1	1494114	1.000000	0.71417	0.997000	0.53966	0.358000	0.29455	7.522000	0.81844	1.774000	0.52232	0.459000	0.35465	TAC		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1				61	85	0	0	0	0.00361	0	61	85		
SDK1	221935	broad.mit.edu	37	7	4171955	4171955	+	Splice_Site	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:4171955A>T	ENST00000404826.2	+	28	4268		c.e28-1		SDK1_ENST00000389531.3_Splice_Site	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTTTCCCTTCAGCCCCAGGCC	0.582																																						uc003smx.2		NaN																	1	Unknown(1)		urinary_tract(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.e28-2		sidekick 1 precursor							53.0	42.0	46.0					7																	4171955		2203	4300	6503	SO:0001630	splice_region_variant	221935				cell adhesion	integral to membrane		g.chr7:4171955A>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4130-1A>T	7.37:g.4171955A>T						SDK1_uc010kso.2_Splice_Site_p.A653_splice|SDK1_uc003smy.2_Splice_Site	p.A1377_splice	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	28	4269	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)						Q8TEN9|Q8TEP5|Q96N44	Splice_Site	SNP	ENST00000404826.2	37	c.4130_splice	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719248	0.48728	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4979	0.75669	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDK1	4138481	1.000000	0.71417	0.985000	0.45067	0.455000	0.32408	8.501000	0.90501	2.067000	0.61834	0.528000	0.53228	.		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744	Intron	8	12	0	0	0	0.004482	0	8	12		
CYTH3	9265	broad.mit.edu	37	7	6210831	6210831	+	Splice_Site	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:6210831A>C	ENST00000350796.3	-	7	699		c.e7+1		CYTH3_ENST00000396741.2_Splice_Site|CYTH3_ENST00000488964.1_Splice_Site	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CTCTGCACTGACCTGTGGACT	0.662																																						uc003spt.2		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e7+1		cytohesin 3							79.0	84.0	82.0					7																	6210831		2203	4300	6503	SO:0001630	splice_region_variant	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6210831A>C	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.562+1T>G	7.37:g.6210831A>C						CYTH3_uc011jws.1_Splice_Site_p.D103_splice	p.D188_splice	NM_004227	NP_004218	O43739	CYH3_HUMAN			7	666	-								A4D2N8	Splice_Site	SNP	ENST00000350796.3	37	c.562_splice	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356181	0.82243	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3771	0.66886	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYTH3	6177356	1.000000	0.71417	0.917000	0.36280	0.974000	0.67602	9.056000	0.93881	1.811000	0.52892	0.533000	0.62120	.		0.662	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2		NM_004227	Intron	25	72	0	0	0	0.007291	0	25	72		
ICA1	3382	broad.mit.edu	37	7	8260975	8260975	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:8260975G>T	ENST00000402384.3	-	5	576	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	ICA1_ENST00000265577.7_Missense_Mutation_p.Q103K|ICA1_ENST00000401396.1_Missense_Mutation_p.Q92K|ICA1_ENST00000476942.1_5'Flank|ICA1_ENST00000406470.2_Missense_Mutation_p.Q104K|ICA1_ENST00000407906.1_Missense_Mutation_p.Q104K|ICA1_ENST00000396675.3_Missense_Mutation_p.Q104K|ICA1_ENST00000422063.2_Missense_Mutation_p.Q104K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	104	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.Q104K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GTTTTATCTTGGAAACCTTGG	0.443																																						uc003srm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(310-312)CAA>AAA		islet cell autoantigen 1							116.0	108.0	111.0					7																	8260975		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8260975G>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.310C>A	7.37:g.8260975G>T	ENSP00000385570:p.Gln104Lys					ICA1_uc010ktr.2_Missense_Mutation_p.Q104K|ICA1_uc003srl.2_Missense_Mutation_p.Q92K|ICA1_uc003srn.3_Missense_Mutation_p.Q30K|ICA1_uc003srp.3_Missense_Mutation_p.Q103K|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.Q104K|ICA1_uc003srr.2_Missense_Mutation_p.Q103K|ICA1_uc003sro.3_Missense_Mutation_p.Q104K|ICA1_uc011jxg.1_Missense_Mutation_p.Q104K|ICA1_uc003srs.1_Missense_Mutation_p.Q104K	p.Q104K	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	5	377	-		Ovarian(82;0.0612)	104			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.310C>A	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069554	0.55539	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367;ENST00000447326;ENST00000430867	T;T;T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.91	5.91	0.95273	Arfaptin-like (3);	0.052173	0.85682	D	0.000000	T	0.76807	0.4039	L	0.54323	1.7	0.80722	D	1	B;P;P;P;P;P	0.52463	0.392;0.746;0.77;0.953;0.89;0.911	B;B;P;P;P;P	0.51516	0.262;0.268;0.525;0.672;0.625;0.672	T	0.70583	-0.4832	10	0.06625	T	0.88	-15.951	20.3018	0.98617	0.0:0.0:1.0:0.0	.	104;104;103;92;104;92	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	K	104;104;103;104;92;104;104;92;104;103	ENSP00000385570:Q104K;ENSP00000385651:Q104K;ENSP00000265577:Q103K;ENSP00000379908:Q104K;ENSP00000385305:Q92K;ENSP00000403982:Q104K;ENSP00000386021:Q104K;ENSP00000316074:Q92K;ENSP00000398435:Q104K;ENSP00000397496:Q103K	ENSP00000265577:Q103K	Q	-	1	0	ICA1	8227500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.799000	0.96334	0.650000	0.86243	CAA		0.443	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1		NM_004968		10	101	1	0	7.48243e-07	0.006214	7.88417e-07	10	101		
NPC1L1	29881	broad.mit.edu	37	7	44556935	44556935	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:44556935T>C	ENST00000289547.4	-	16	3294	c.3239A>G	c.(3238-3240)cAc>cGc	p.H1080R	NPC1L1_ENST00000546276.1_Missense_Mutation_p.H1007R|NPC1L1_ENST00000381160.3_Missense_Mutation_p.H1053R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1080					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.H1080R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGGGGCTTGTGATAGGCCAT	0.557																																						uc003tlb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3238-3240)CAC>CGC		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						104.0	99.0	100.0					7																	44556935		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44556935T>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3239A>G	7.37:g.44556935T>C	ENSP00000289547:p.His1080Arg					NPC1L1_uc003tlc.2_Missense_Mutation_p.H1053R|NPC1L1_uc011kbw.1_Missense_Mutation_p.H1007R|NPC1L1_uc003tla.2_Missense_Mutation_p.H56R	p.H1080R	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			16	3295	-			1080			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3239A>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964650	0.74131	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	T;D;D	0.95069	2.62;-3.52;-3.6	5.33	4.18	0.49190	.	0.052571	0.85682	D	0.000000	D	0.96676	0.8915	M	0.85462	2.755	0.44409	D	0.997323	D;D;D;D	0.63880	0.983;0.993;0.989;0.989	P;D;P;P	0.66716	0.846;0.946;0.663;0.802	D	0.95794	0.8827	10	0.56958	D	0.05	-33.4153	9.2276	0.37416	0.0:0.0868:0.0:0.9132	.	1007;1053;1080;1080	B7ZLE6;Q17RV5;D3DVK9;Q9UHC9	.;.;.;NPCL1_HUMAN	R	1080;1053;1007	ENSP00000289547:H1080R;ENSP00000370552:H1053R;ENSP00000438033:H1007R	ENSP00000289547:H1080R	H	-	2	0	NPC1L1	44523460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.650000	0.67944	0.861000	0.35504	0.533000	0.62120	CAC		0.557	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1		NM_013389		20	49	0	0	0	0.012319	0	20	49		
PPP1R9A	55607	broad.mit.edu	37	7	94540651	94540651	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:94540651G>A	ENST00000433881.1	+	2	1758	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R409K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R409K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R409K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R409K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R409K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	409					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.R409K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGAGATCCAGGTATAATTCA	0.423										HNSCC(28;0.073)																												uc003unp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1225-1227)AGG>AAG		protein phosphatase 1, regulatory (inhibitor)							64.0	59.0	61.0					7																	94540651		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540651G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1226G>A	7.37:g.94540651G>A	ENSP00000398870:p.Arg409Lys	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.R409K|PPP1R9A_uc011kif.1_Missense_Mutation_p.R409K|PPP1R9A_uc003unq.2_Missense_Mutation_p.R409K|PPP1R9A_uc011kig.1_Missense_Mutation_p.R409K	p.R409K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1508	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		409					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1226G>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	8.927	0.962480	0.18583	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14516	2.5;2.53;2.52;2.53;2.52;2.52	5.55	4.67	0.58626	.	0.239197	0.42682	N	0.000661	T	0.33440	0.0863	M	0.68317	2.08	0.33461	D	0.584946	D;D;D;B;B	0.67145	0.983;0.996;0.996;0.007;0.001	P;D;D;B;B	0.66084	0.708;0.941;0.936;0.004;0.003	T	0.49986	-0.8880	9	.	.	.	.	14.7692	0.69662	0.0696:0.0:0.9304:0.0	.	409;409;409;409;409	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	409	ENSP00000405514:R409K;ENSP00000344524:R409K;ENSP00000411342:R409K;ENSP00000398870:R409K;ENSP00000289495:R409K;ENSP00000402893:R409K	.	R	+	2	0	PPP1R9A	94378587	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	5.345000	0.65987	1.501000	0.48654	-0.140000	0.14226	AGG		0.423	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1		NM_001166160		24	21	0	0	0	0.00278	0	24	21		
ACN9	57001	broad.mit.edu	37	7	96810409	96810409	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:96810409A>G	ENST00000432641.2	+	2	1394	c.260A>G	c.(259-261)gAa>gGa	p.E87G	ACN9_ENST00000360382.4_3'UTR|ACN9_ENST00000479853.1_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)									p.E87G(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TTCCTCCCAGAAGAAAAACTT	0.388																																						uc003uoo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(259-261)GAA>GGA		ACN9 homolog precursor							73.0	75.0	74.0					7																	96810409		2203	4300	6503	SO:0001583	missense	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96810409A>G	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.260A>G	7.37:g.96810409A>G	ENSP00000414066:p.Glu87Gly						p.E87G	NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN			2	1391	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		87						Missense_Mutation	SNP	ENST00000432641.2	37	c.260A>G	CCDS5648.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788898	0.49997	.	.	ENSG00000196636	ENST00000432641	.	.	.	5.13	2.69	0.31865	.	0.238259	0.41605	D	0.000847	T	0.65647	0.2711	M	0.85777	2.775	0.80722	D	1	B	0.26195	0.144	B	0.32980	0.156	T	0.61569	-0.7036	9	0.42905	T	0.14	-9.1753	9.6933	0.40143	0.6329:0.3671:0.0:0.0	.	87	Q9NRP4	ACN9_HUMAN	G	87	.	ENSP00000414066:E87G	E	+	2	0	ACN9	96648345	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	4.169000	0.58223	0.343000	0.23821	0.482000	0.46254	GAA		0.388	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3		NM_020186		38	24	0	0	0	0.005524	0	38	24		
TECPR1	25851	broad.mit.edu	37	7	97863074	97863074	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:97863074G>A	ENST00000447648.2	-	11	1630	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	TECPR1_ENST00000542604.1_Missense_Mutation_p.S374L|TECPR1_ENST00000379795.3_Missense_Mutation_p.S444L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	444					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S444L(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCTGAGGCTGAGTTCCCTGT	0.647																																						uc003upg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1330-1332)TCA>TTA		tectonin beta-propeller repeat containing 1							18.0	22.0	20.0					7																	97863074		2048	4194	6242	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97863074G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1331C>T	7.37:g.97863074G>A	ENSP00000404923:p.Ser444Leu					TECPR1_uc003uph.1_Missense_Mutation_p.S374L	p.S444L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			11	1536	-			444					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.1331C>T	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	7.201	0.593467	0.13875	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.32023	1.47;1.48;1.48	3.73	0.59	0.17458	.	2.516040	0.01255	N	0.008998	T	0.16981	0.0408	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.08534	-1.0717	10	0.10636	T	0.68	-0.2597	1.0505	0.01578	0.3097:0.1386:0.3922:0.1595	.	374;444	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	444;444;374	ENSP00000404923:S444L;ENSP00000369121:S444L;ENSP00000441121:S374L	ENSP00000369121:S444L	S	-	2	0	TECPR1	97701010	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.100000	0.15231	-0.119000	0.11830	-0.379000	0.06801	TCA		0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1		NM_015395		6	7	0	0	0	0.00308	0	6	7		
LRCH4	4034	broad.mit.edu	37	7	100172746	100172746	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:100172746C>G	ENST00000310300.6	-	18	2088	c.2036G>C	c.(2035-2037)cGg>cCg	p.R679P	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Missense_Mutation_p.R227P	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	679					nervous system development (GO:0007399)	PML body (GO:0016605)		p.R679P(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCAGGAGCCGAGTGTAGGT	0.637																																						uc003uvj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(2035-2037)CGG>CCG		leucine-rich repeats and calponin homology (CH)							60.0	52.0	55.0					7																	100172746		2203	4299	6502	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100172746C>G	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.2036G>C	7.37:g.100172746C>G	ENSP00000309689:p.Arg679Pro					uc003uvh.2_5'Flank|LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_3'UTR	p.R679P	NM_002319	NP_002310	O75427	LRCH4_HUMAN			18	2089	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		679					A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.2036G>C	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714927	0.48622	.	.	ENSG00000077454	ENST00000310300;ENST00000422462;ENST00000497245	T;T	0.46063	1.47;0.88	4.32	3.44	0.39384	.	0.664403	0.14967	N	0.288021	T	0.38506	0.1043	M	0.62723	1.935	0.31971	N	0.607113	B	0.33379	0.41	B	0.33339	0.162	T	0.48885	-0.8995	10	0.45353	T	0.12	-0.8636	8.0307	0.30463	0.0:0.8894:0.0:0.1106	.	679	O75427	LRCH4_HUMAN	P	679;138;227	ENSP00000309689:R679P;ENSP00000419870:R227P	ENSP00000309689:R679P	R	-	2	0	LRCH4	100010682	0.984000	0.35163	1.000000	0.80357	0.975000	0.68041	1.430000	0.34914	1.066000	0.40716	0.555000	0.69702	CGG		0.637	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1		NM_002319		3	14	0	0	0	0.004672	0	3	14		
LRRC17	10234	broad.mit.edu	37	7	102574512	102574512	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:102574512G>A	ENST00000339431.4	+	2	447	c.152G>A	c.(151-153)gGc>gAc	p.G51D	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.G51D	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	51					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.G51D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TACGCACCAGGCCTCCCGTGT	0.542																																						uc003vau.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(151-153)GGC>GAC		leucine rich repeat containing 17 isoform 1							54.0	50.0	51.0					7																	102574512		2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574512G>A	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.152G>A	7.37:g.102574512G>A	ENSP00000344242:p.Gly51Asp					FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.G51D	p.G51D	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN			2	541	+			51					Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.152G>A	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260002	0.59321	.	.	ENSG00000128606	ENST00000339431;ENST00000249377;ENST00000455453	T;T;T	0.62364	0.3;0.03;0.94	5.73	3.9	0.45041	.	0.098051	0.44902	D	0.000409	T	0.60663	0.2286	M	0.69823	2.125	0.40387	D	0.979502	B;B	0.23540	0.053;0.087	B;B	0.25759	0.028;0.063	T	0.60601	-0.7231	10	0.54805	T	0.06	-8.4866	11.0602	0.47942	0.0667:0.0:0.804:0.1293	.	51;51	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	D	51	ENSP00000344242:G51D;ENSP00000249377:G51D;ENSP00000394194:G51D	ENSP00000249377:G51D	G	+	2	0	LRRC17	102361748	0.976000	0.34144	0.985000	0.45067	0.964000	0.63967	1.868000	0.39509	0.855000	0.35359	0.557000	0.71058	GGC		0.542	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1		NM_005824		6	31	0	0	0	0.001168	0	6	31		
PTPRZ1	5803	broad.mit.edu	37	7	121650516	121650516	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:121650516G>A	ENST00000393386.2	+	12	1827	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	PTPRZ1_ENST00000449182.1_Silent_p.T472T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	472					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T472T(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCATAGGGACGAAATACAATG	0.433																																						uc003vjy.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1414-1416)ACG>ACA		protein tyrosine phosphatase, receptor-type,							141.0	123.0	129.0					7																	121650516		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650516G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1416G>A	7.37:g.121650516G>A						PTPRZ1_uc003vjz.2_Silent_p.T472T|PTPRZ1_uc011knt.1_5'UTR	p.T472T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	1811	+			472			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.1416G>A	CCDS34740.1																																																																																				0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851		42	32	0	0	0	0.00361	0	42	32		
SPAM1	6677	broad.mit.edu	37	7	123599683	123599683	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:123599683A>G	ENST00000439500.1	+	6	1803	c.1190A>G	c.(1189-1191)tAt>tGt	p.Y397C	SPAM1_ENST00000402183.2_Missense_Mutation_p.Y397C|SPAM1_ENST00000340011.5_Missense_Mutation_p.Y397C|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y397C|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y397C	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	397					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.Y397C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAAGTGACTATCTTCACCTC	0.418																																						uc003vld.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|kidney(1)	4						c.(1189-1191)TAT>TGT		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						121.0	112.0	115.0					7																	123599683		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599683A>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1190A>G	7.37:g.123599683A>G	ENSP00000402123:p.Tyr397Cys					SPAM1_uc003vle.2_Missense_Mutation_p.Y397C|SPAM1_uc011koa.1_Missense_Mutation_p.Y53C|SPAM1_uc003vlf.3_Missense_Mutation_p.Y397C|SPAM1_uc010lku.2_Missense_Mutation_p.Y397C	p.Y397C	NM_153189	NP_694859	P38567	HYALP_HUMAN			6	1592	+			397					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1190A>G	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411088	0.83340	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.86	5.86	0.93980	.	0.065176	0.64402	D	0.000005	T	0.71358	0.3330	M	0.90759	3.145	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77907	-0.2412	10	0.87932	D	0	-50.6721	15.7408	0.77894	1.0:0.0:0.0:0.0	.	397;397	Q8TC30;P38567	.;HYALP_HUMAN	C	397	ENSP00000386028:Y397C;ENSP00000417934:Y397C;ENSP00000345849:Y397C;ENSP00000402123:Y397C;ENSP00000223028:Y397C	ENSP00000223028:Y397C	Y	+	2	0	SPAM1	123386919	1.000000	0.71417	0.991000	0.47740	0.864000	0.49448	5.152000	0.64882	2.367000	0.80283	0.528000	0.53228	TAT		0.418	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1				18	38	0	0	0	0.008871	0	18	38		
LRGUK	136332	broad.mit.edu	37	7	133884160	133884160	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:133884160G>A	ENST00000285928.2	+	14	1803	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	578	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.E578E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATTTTGATGAGGTAATCAATG	0.318																																						uc003vrm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|skin(2)|kidney(1)	5						c.(1732-1734)GAG>GAA		leucine-rich repeats and guanylate kinase domain							64.0	74.0	71.0					7																	133884160		2197	4299	6496	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133884160G>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1734G>A	7.37:g.133884160G>A							p.E578E	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			14	1750	+			578			Guanylate kinase-like.		Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.1734G>A	CCDS5830.1																																																																																				0.318	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1		NM_144648		24	87	0	0	0	0.004656	0	24	87		
HIPK2	28996	broad.mit.edu	37	7	139299121	139299121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:139299121C>T	ENST00000406875.3	-	8	1995	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	HIPK2_ENST00000428878.2_Missense_Mutation_p.S607N|HIPK2_ENST00000342645.6_Missense_Mutation_p.S634N	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	634	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.S634N(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CAGGGGCATGCTCCGCTGGGC	0.577																																						uc003vvf.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(1900-1902)AGC>AAC		homeodomain interacting protein kinase 2 isoform							52.0	58.0	56.0					7																	139299121		1956	4157	6113	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139299121C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1901G>A	7.37:g.139299121C>T	ENSP00000385571:p.Ser634Asn					HIPK2_uc003vvd.3_Missense_Mutation_p.S607N	p.S634N	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			8	2075	-	Melanoma(164;0.205)		634			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.1901G>A		.	.	.	.	.	.	.	.	.	.	C	17.87	3.494079	0.64186	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.54279	0.58;0.66;0.65	5.39	5.39	0.77823	.	.	.	.	.	T	0.49012	0.1532	.	.	.	0.47009	D	0.999281	B;P	0.37330	0.148;0.59	B;B	0.36378	0.037;0.223	T	0.47573	-0.9107	8	0.40728	T	0.16	.	19.5328	0.95235	0.0:1.0:0.0:0.0	.	634;607	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	N	634;607;634	ENSP00000385571:S634N;ENSP00000413724:S607N;ENSP00000343108:S634N	ENSP00000343108:S634N	S	-	2	0	HIPK2	138949661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.682000	0.91365	0.563000	0.77884	AGC		0.577	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3		NM_022740		3	11	0	0	0	0.004672	0	3	11		
TPK1	27010	broad.mit.edu	37	7	144320258	144320258	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:144320258C>T	ENST00000360057.3	-	6	457		c.e6+1		TPK1_ENST00000538212.2_Splice_Site|TPK1_ENST00000547966.1_Splice_Site|TPK1_ENST00000549981.1_Splice_Site|TPK1_ENST00000378099.3_Splice_Site	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1						small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.?(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	GTATATATTACCTTTAAGTCT	0.328																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)	2						c.e6+1		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						154.0	163.0	160.0					7																	144320258		2203	4300	6503	SO:0001630	splice_region_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144320258C>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.354+1G>A	7.37:g.144320258C>T						TPK1_uc003weo.2_Splice_Site_p.K113_splice|TPK1_uc003wep.2_Splice_Site|TPK1_uc003wer.2_Splice_Site_p.K118_splice|TPK1_uc003wes.2_Splice_Site	p.K118_splice	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			6	457	-								A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Splice_Site	SNP	ENST00000360057.3	37	c.354_splice	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634446	0.29068	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5125	0.75795	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPK1	143951191	1.000000	0.71417	0.990000	0.47175	0.098000	0.18820	4.588000	0.60999	2.749000	0.94314	0.655000	0.94253	.		0.328	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1		NM_022445	Intron	62	64	0	0	0	0.00361	0	62	64		
LPL	4023	broad.mit.edu	37	8	19818562	19818562	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:19818562G>A	ENST00000311322.8	+	8	1760	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	430	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.K430K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CCATTCAGAAGATCAGAGTAA	0.428																																						uc003wzk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1288-1290)AAG>AAA		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						70.0	69.0	69.0					8																	19818562		2203	4300	6503	SO:0001819	synonymous_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19818562G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1290G>A	8.37:g.19818562G>A							p.K430K	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	8	1660	+			430			PLAT.|Heparin-binding (By similarity).		B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	c.1290G>A	CCDS6012.1																																																																																				0.428	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3				21	16	0	0	0	0.00278	0	21	16		
EIF4EBP1	1978	broad.mit.edu	37	8	37914710	37914710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:37914710G>A	ENST00000338825.4	+	2	490	c.257G>A	c.(256-258)aGt>aAt	p.S86N	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	86					cellular protein metabolic process (GO:0044267)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translational initiation (GO:0045947)|positive regulation of mitotic cell cycle (GO:0045931)|response to ethanol (GO:0045471)|response to ischemia (GO:0002931)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	translation repressor activity (GO:0030371)	p.S86N(1)		endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				AGCCCTTCCAGTGATGAGCCC	0.602																																					Melanoma(144;549 1821 15133 20335 46806)	uc003xks.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(256-258)AGT>AAT		eukaryotic translation initiation factor 4E							53.0	57.0	56.0					8																	37914710		2203	4300	6503	SO:0001583	missense	1978				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol		g.chr8:37914710G>A		CCDS6100.1	8p12	2008-10-08			ENSG00000187840	ENSG00000187840			3288	protein-coding gene	gene with protein product	"""phosphorylated heat- and acid-stable protein regulated by insulin 1"""	602223				7935836	Standard	NM_004095		Approved	PHAS-I, 4E-BP1	uc003xks.3	Q13541	OTTHUMG00000164012	ENST00000338825.4:c.257G>A	8.37:g.37914710G>A	ENSP00000340691:p.Ser86Asn						p.S86N	NM_004095	NP_004086	Q13541	4EBP1_HUMAN			2	329	+	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	86					B2R502|D3DSW8|Q6IBN3	Missense_Mutation	SNP	ENST00000338825.4	37	c.257G>A	CCDS6100.1	.	.	.	.	.	.	.	.	.	.	G	3.633	-0.075093	0.07184	.	.	ENSG00000187840	ENST00000338825	.	.	.	5.1	4.17	0.49024	.	0.402399	0.24105	N	0.041501	T	0.28532	0.0706	L	0.34521	1.04	0.09310	N	1	B	0.22909	0.077	B	0.24394	0.053	T	0.08722	-1.0708	9	0.22706	T	0.39	-9.1842	7.917	0.29825	0.0:0.1742:0.6456:0.1801	.	86	Q13541	4EBP1_HUMAN	N	86	.	ENSP00000340691:S86N	S	+	2	0	EIF4EBP1	38033867	0.001000	0.12720	0.016000	0.15963	0.110000	0.19582	0.713000	0.25794	2.371000	0.80710	0.455000	0.32223	AGT		0.602	EIF4EBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376743.1		NM_004095		14	34	0	0	0	0.003163	0	14	34		
RP1	6101	broad.mit.edu	37	8	55541521	55541521	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:55541521G>T	ENST00000220676.1	+	4	5227	c.5079G>T	c.(5077-5079)ttG>ttT	p.L1693F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1693					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.L1693F(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CATCTATGTTGCAGGAATTCC	0.403																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(5077-5079)TTG>TTT		retinitis pigmentosa RP1 protein							165.0	167.0	166.0					8																	55541521		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541521G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5079G>T	8.37:g.55541521G>T	ENSP00000220676:p.Leu1693Phe					RP1_uc011ldy.1_Intron	p.L1693F	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5227	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1693						Missense_Mutation	SNP	ENST00000220676.1	37	c.5079G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	8.461	0.855321	0.17106	.	.	ENSG00000104237	ENST00000220676	T	0.24538	1.85	5.93	1.6	0.23607	.	0.612318	0.13570	N	0.378102	T	0.18215	0.0437	L	0.48362	1.52	0.25637	N	0.98624	B	0.26775	0.159	B	0.23852	0.049	T	0.21621	-1.0240	10	0.41790	T	0.15	.	2.6284	0.04937	0.4087:0.0:0.3821:0.2092	.	1693	P56715	RP1_HUMAN	F	1693	ENSP00000220676:L1693F	ENSP00000220676:L1693F	L	+	3	2	RP1	55704074	0.829000	0.29322	0.801000	0.32222	0.711000	0.40976	0.263000	0.18478	0.395000	0.25257	0.655000	0.94253	TTG		0.403	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		38	236	1	0	4.11147e-13	0.003755	4.57802e-13	38	236		
CLVS1	157807	broad.mit.edu	37	8	62366715	62366715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:62366715C>G	ENST00000519846.1	+	5	1118	c.646C>G	c.(646-648)Cgc>Ggc	p.R216G	CLVS1_ENST00000325897.4_Missense_Mutation_p.R216G|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	216	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.R216G(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTTTCCTGCCCGCTTTGGAGG	0.493																																						uc003xuh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(1)	5						c.(646-648)CGC>GGC		retinaldehyde binding protein 1-like 1							259.0	252.0	254.0					8																	62366715		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62366715C>G	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.646C>G	8.37:g.62366715C>G	ENSP00000428402:p.Arg216Gly					CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.R216G	p.R216G	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			4	970	+			216			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.646C>G	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260026	0.80246	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.80033	-1.33;-1.33	4.81	4.81	0.61882	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.91955	0.7452	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93548	0.6884	10	0.87932	D	0	-21.023	18.4338	0.90636	0.0:1.0:0.0:0.0	.	216	Q8IUQ0	CLVS1_HUMAN	G	216	ENSP00000428402:R216G;ENSP00000325506:R216G	ENSP00000325506:R216G	R	+	1	0	CLVS1	62529269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.281000	0.65609	2.661000	0.90470	0.655000	0.94253	CGC		0.493	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1		NM_173519		179	117	0	0	0	0.00361	0	179	117		
CRH	1392	broad.mit.edu	37	8	67089287	67089287	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:67089287G>A	ENST00000276571.3	-	2	872	c.426C>T	c.(424-426)ggC>ggT	p.G142G		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	142					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.G142G(1)		breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CCTGGTGGCCGCCGAGGGCAT	0.667											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xvy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(424-426)GGC>GGT		corticotropin releasing hormone precursor	Corticotropin(DB01285)						26.0	21.0	22.0					8																	67089287		2203	4300	6503	SO:0001819	synonymous_variant	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089287G>A		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"""Endogenous ligands"""	2355	protein-coding gene	gene with protein product	"""corticotropin-releasing factor"", ""corticoliberin"""	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.426C>T	8.37:g.67089287G>A			OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096		p.G142G	NM_000756	NP_000747	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	611	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	142					B3KQS4	Silent	SNP	ENST00000276571.3	37	c.426C>T	CCDS6188.1																																																																																				0.667	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1		NM_000756		3	10	0	0	0	0.004672	0	3	10		
SULF1	23213	broad.mit.edu	37	8	70539485	70539485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:70539485G>A	ENST00000260128.4	+	16	2608	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.E631K|SULF1_ENST00000402687.4_Missense_Mutation_p.E631K|SULF1_ENST00000419716.3_Missense_Mutation_p.E631K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	631					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.E631K(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGTGAGAGAGAACTGTACCA	0.388																																						uc010lza.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1891-1893)GAA>AAA		sulfatase 1 precursor							157.0	141.0	147.0					8																	70539485		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70539485G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1891G>A	8.37:g.70539485G>A	ENSP00000260128:p.Glu631Lys					SULF1_uc003xyd.2_Missense_Mutation_p.E631K|SULF1_uc003xye.2_Missense_Mutation_p.E631K|SULF1_uc003xyf.2_Missense_Mutation_p.E631K|SULF1_uc003xyg.2_Missense_Mutation_p.E631K|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'Flank	p.E631K	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		16	2608	+	Breast(64;0.0654)		631					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1891G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270824	0.95429	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	6.04	6.04	0.98038	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99001	0.9659	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.98934	1.0788	10	0.23891	T	0.37	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	631	Q8IWU6	SULF1_HUMAN	K	631	ENSP00000403040:E631K;ENSP00000260128:E631K;ENSP00000385704:E631K;ENSP00000390315:E631K	ENSP00000260128:E631K	E	+	1	0	SULF1	70702039	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.695000	0.98691	2.873000	0.98535	0.563000	0.77884	GAA		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2		NM_015170		69	48	0	0	0	0.00361	0	69	48		
ZFHX4	79776	broad.mit.edu	37	8	77763236	77763236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:77763236G>T	ENST00000521891.2	+	10	4527	c.4079G>T	c.(4078-4080)tGg>tTg	p.W1360L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.W1334L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.W1315L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.W1315L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.W1360L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTCTCAGAATGGAATAAAAAT	0.423										HNSCC(33;0.089)																												uc003yav.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3943-3945)TGG>TTG		zinc finger homeodomain 4							78.0	74.0	75.0					8																	77763236		1857	4094	5951	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763236G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4079G>T	8.37:g.77763236G>T	ENSP00000430497:p.Trp1360Leu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.W1360L|ZFHX4_uc003yaw.1_Missense_Mutation_p.W1315L	p.W1315L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4331	+			1315					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3944G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561192	0.45590	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.76;0.73;0.72	4.65	4.65	0.58169	.	0.000000	0.42053	U	0.000761	T	0.64046	0.2563	L	0.49455	1.56	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.78314	0.979;0.991;0.991	T	0.64914	-0.6295	10	0.52906	T	0.07	.	18.1305	0.89599	0.0:0.0:1.0:0.0	.	1315;1315;1360	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1360;1360;1315;1315;1334	ENSP00000430497:W1360L;ENSP00000399605:W1315L;ENSP00000050961:W1315L;ENSP00000430848:W1334L	ENSP00000050961:W1315L	W	+	2	0	ZFHX4	77925791	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.224000	0.78042	2.593000	0.87608	0.555000	0.69702	TGG		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		8	33	1	0	1.06961e-07	0.00308	1.14238e-07	8	33		
VPS13B	157680	broad.mit.edu	37	8	100146891	100146891	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:100146891A>G	ENST00000358544.2	+	9	1349	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	VPS13B_ENST00000357162.2_Missense_Mutation_p.Y413C|VPS13B_ENST00000395996.1_Missense_Mutation_p.Y413C|VPS13B_ENST00000355155.1_Missense_Mutation_p.Y413C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	413					protein transport (GO:0015031)			p.Y413C(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTAGTTATTACAGTCCACAG	0.274																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(1237-1239)TAC>TGC		vacuolar protein sorting 13B isoform 5							63.0	70.0	67.0					8																	100146891		2203	4289	6492	SO:0001583	missense	157680				protein transport			g.chr8:100146891A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1238A>G	8.37:g.100146891A>G	ENSP00000351346:p.Tyr413Cys					VPS13B_uc003yiw.2_Missense_Mutation_p.Y413C|VPS13B_uc003yit.2_Missense_Mutation_p.Y413C|VPS13B_uc003yiu.1_Missense_Mutation_p.Y413C|VPS13B_uc003yix.1_5'Flank	p.Y413C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		9	1349	+	Breast(36;3.73e-07)		413					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1238A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368222	0.61513	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.80123	-1.34;-0.71;-0.71;-0.41	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000004	D	0.84275	0.5436	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.996	D	0.86510	0.1809	10	0.87932	D	0	.	15.444	0.75213	1.0:0.0:0.0:0.0	.	413;413;413;413	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	C	413	ENSP00000347281:Y413C;ENSP00000349685:Y413C;ENSP00000351346:Y413C;ENSP00000379318:Y413C	ENSP00000347281:Y413C	Y	+	2	0	VPS13B	100216067	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	8.414000	0.90238	2.106000	0.64143	0.397000	0.26171	TAC		0.274	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		32	124	0	0	0	0.002836	0	32	124		
MAF1	84232	broad.mit.edu	37	8	145161270	145161270	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:145161270C>A	ENST00000322428.5	+	5	807	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	MAF1_ENST00000532522.1_Missense_Mutation_p.L135M|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000534585.1_Missense_Mutation_p.L135M|KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000398712.2_5'Flank	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	135					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)	p.L135M(1)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAACTGCAGTCTGTTCTCAGC	0.582																																						uc003zbc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(403-405)CTG>ATG		MAF1 protein							103.0	84.0	91.0					8																	145161270		2203	4300	6503	SO:0001583	missense	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145161270C>A		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.403C>A	8.37:g.145161270C>A	ENSP00000318604:p.Leu135Met					SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank	p.L135M	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	904	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		135					D3DWL4	Missense_Mutation	SNP	ENST00000322428.5	37	c.403C>A	CCDS6416.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542362	0.65198	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527058	T;T;T	0.57907	0.37;0.42;0.37	5.42	3.61	0.41365	.	0.000000	0.64402	D	0.000002	T	0.67468	0.2896	M	0.79258	2.445	0.58432	D	0.999996	D	0.76494	0.999	D	0.74023	0.982	T	0.65022	-0.6269	10	0.41790	T	0.15	-16.4333	7.4739	0.27365	0.0:0.7432:0.1674:0.0894	.	135	Q9H063	MAF1_HUMAN	M	135	ENSP00000318604:L135M;ENSP00000433979:L135M;ENSP00000436720:L135M	ENSP00000318604:L135M	L	+	1	2	MAF1	145233258	0.999000	0.42202	0.969000	0.41365	0.997000	0.91878	1.979000	0.40608	0.666000	0.31087	0.655000	0.94253	CTG		0.582	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1		NM_032272		30	15	1	0	6.38683e-12	0.008361	7.03672e-12	30	15		
SMARCA2	6595	broad.mit.edu	37	9	2086985	2086985	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:2086985C>G	ENST00000382203.1	+	18	2892	c.2683C>G	c.(2683-2685)Ctc>Gtc	p.L895V	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L895V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L895V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L895V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	895	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.L895V(1)|p.L891V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGGGCCCTCCTCAACTTCCT	0.507																																						uc003zhc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)	3						c.(2683-2685)CTC>GTC		SWI/SNF-related matrix-associated							101.0	95.0	97.0					9																	2086985		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2086985C>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2683C>G	9.37:g.2086985C>G	ENSP00000371638:p.Leu895Val					SMARCA2_uc003zhd.2_Missense_Mutation_p.L895V|SMARCA2_uc010mha.2_Intron	p.L895V	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	18	2782	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	895			Helicase ATP-binding.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2683C>G	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659593	0.88154	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.8	5.8	0.92144	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.80847	2.515	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	D	0.97588	1.0115	10	0.87932	D	0	-19.5752	20.0637	0.97700	0.0:1.0:0.0:0.0	.	895;895	P51531-2;P51531	.;SMCA2_HUMAN	V	895	ENSP00000265773:L895V;ENSP00000349788:L895V;ENSP00000371638:L895V;ENSP00000371629:L895V	ENSP00000265773:L895V	L	+	1	0	SMARCA2	2076985	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.751000	0.94390	0.650000	0.86243	CTC		0.507	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		75	13	0	0	0	0.00361	0	75	13		
INSL4	3641	broad.mit.edu	37	9	5231710	5231710	+	Missense_Mutation	SNP	C	C	T	rs188521238		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:5231710C>T	ENST00000239316.4	+	1	292	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	63					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)	p.R63C(1)		endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GGAATCTGGACGTCCCAAAGG	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19888	0.0		0.0	False		,,,				2504	0.0					uc003ziy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(187-189)CGT>TGT		insulin-like 4 precursor							49.0	49.0	49.0					9																	5231710		2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5231710C>T		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.187C>T	9.37:g.5231710C>T	ENSP00000239316:p.Arg63Cys						p.R63C	NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	1	292	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	63					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.187C>T	CCDS6459.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.355	0.831849	0.16820	.	.	ENSG00000120211	ENST00000239316	T	0.20332	2.08	1.8	-3.59	0.04583	.	11.776100	0.00597	U	0.000377	T	0.08268	0.0206	N	0.14661	0.345	0.09310	N	1	P	0.46512	0.879	B	0.26416	0.069	T	0.27938	-1.0059	10	0.62326	D	0.03	.	3.2252	0.06729	0.0:0.4168:0.2853:0.2979	.	63	Q14641	INSL4_HUMAN	C	63	ENSP00000239316:R63C	ENSP00000239316:R63C	R	+	1	0	INSL4	5221710	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.062000	0.03468	-0.831000	0.04256	0.205000	0.17691	CGT		0.517	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2		NM_002195		22	7	0	0	0	0.002299	0	22	7		
KIAA1045	23349	broad.mit.edu	37	9	34976675	34976675	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:34976675A>G	ENST00000242315.3	+	5	869	c.787A>G	c.(787-789)Ata>Gta	p.I263V	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.I263V	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	263							metal ion binding (GO:0046872)	p.I263V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TCGAGGCCACATAGAGTGGCC	0.622																																						uc003zvq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(787-789)ATA>GTA		hypothetical protein LOC23349							58.0	62.0	61.0					9																	34976675		1992	4158	6150	SO:0001583	missense	23349						calcium ion binding	g.chr9:34976675A>G	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.787A>G	9.37:g.34976675A>G	ENSP00000242315:p.Ile263Val					KIAA1045_uc003zvr.2_Missense_Mutation_p.I263V	p.I263V	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		5	965	+			263					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.787A>G	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	A	9.085	1.000234	0.19121	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	T;T	0.26810	1.71;1.71	5.05	-4.71	0.03279	EF-hand-like domain (1);	0.336234	0.30043	N	0.010552	T	0.10252	0.0251	N	0.05124	-0.11	0.22989	N	0.998468	B	0.02656	0.0	B	0.04013	0.001	T	0.18618	-1.0331	10	0.21540	T	0.41	-0.766	14.6383	0.68704	0.3365:0.0:0.6635:0.0	.	263	Q9UPV7	K1045_HUMAN	V	263	ENSP00000444138:I263V;ENSP00000242315:I263V	ENSP00000242315:I263V	I	+	1	0	KIAA1045	34966675	0.221000	0.23642	0.750000	0.31169	0.932000	0.56968	0.533000	0.23082	-0.881000	0.03992	-0.250000	0.11733	ATA		0.622	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2		XM_048592		66	60	0	0	0	0.00361	0	66	60		
TMOD1	7111	broad.mit.edu	37	9	100326379	100326379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:100326379G>C	ENST00000259365.4	+	6	760	c.547G>C	c.(547-549)Gta>Cta	p.V183L	TMOD1_ENST00000375175.1_Missense_Mutation_p.V56L|TMOD1_ENST00000395211.2_Missense_Mutation_p.V183L	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	183					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.V183L(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TTCAACAGACGTAGAGGAAAC	0.443																																						uc004axk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(547-549)GTA>CTA		tropomodulin 1							117.0	96.0	103.0					9																	100326379		2203	4300	6503	SO:0001583	missense	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100326379G>C		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.547G>C	9.37:g.100326379G>C	ENSP00000259365:p.Val183Leu					TMOD1_uc004axl.1_Missense_Mutation_p.V183L	p.V183L	NM_003275	NP_003266	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	6	760	+		Acute lymphoblastic leukemia(62;0.154)	183					B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	c.547G>C	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202893	0.58234	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.92446	-3.04;-3.04;-3.04	5.61	4.71	0.59529	.	0.157015	0.41500	D	0.000867	D	0.90539	0.7035	L	0.58583	1.82	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	D	0.87815	0.2634	10	0.66056	D	0.02	-9.5291	16.0267	0.80550	0.0:0.0:0.8646:0.1354	.	183	P28289	TMOD1_HUMAN	L	183;183;56	ENSP00000378637:V183L;ENSP00000259365:V183L;ENSP00000364318:V56L	ENSP00000259365:V183L	V	+	1	0	TMOD1	99366200	1.000000	0.71417	0.252000	0.24328	0.696000	0.40369	4.506000	0.60428	1.524000	0.49035	0.655000	0.94253	GTA		0.443	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2		NM_003275		17	22	0	0	0	0.012319	0	17	22		
TSTD2	158427	broad.mit.edu	37	9	100367863	100367863	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:100367863C>T	ENST00000341170.4	-	8	1397	c.1015G>A	c.(1015-1017)Gtt>Att	p.V339I	TSTD2_ENST00000354801.2_Missense_Mutation_p.V79I	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	339	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.							p.V339I(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TTTTTGTCAACGTAGCTAGGG	0.463																																						uc004axn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1015-1017)GTT>ATT		thiosulfate sulfurtransferase (rhodanese)-like							95.0	93.0	94.0					9																	100367863		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100367863C>T	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1015G>A	9.37:g.100367863C>T	ENSP00000342499:p.Val339Ile					TSTD2_uc004axo.2_Missense_Mutation_p.V113I|TSTD2_uc004axp.1_Missense_Mutation_p.V113I	p.V339I	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN			8	1503	-			339			Rhodanese.		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.1015G>A	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883366	0.33255	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.23552	1.9;1.9;1.9	5.46	2.29	0.28610	Rhodanese-like (5);	0.168332	0.52532	N	0.000079	T	0.19886	0.0478	L	0.36672	1.1	0.41857	D	0.9902	B;B	0.31859	0.009;0.343	B;B	0.36418	0.012;0.224	T	0.05115	-1.0905	10	0.22109	T	0.4	-7.6675	9.795	0.40728	0.0:0.7499:0.0:0.2501	.	113;339	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	I	113;339;79;79	ENSP00000342499:V339I;ENSP00000364308:V79I;ENSP00000346856:V79I	ENSP00000342499:V339I	V	-	1	0	TSTD2	99407684	0.673000	0.27539	0.990000	0.47175	0.980000	0.70556	1.141000	0.31528	0.226000	0.20979	-0.145000	0.13849	GTT		0.463	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4		NM_139246		36	77	0	0	0	0.003271	0	36	77		
CDK5RAP2	55755	broad.mit.edu	37	9	123232480	123232480	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:123232480T>C	ENST00000349780.4	-	17	2056	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Y626C|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Y626C|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Y626C	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	626					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.Y626C(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTGATCACTATAAAGTGAAAA	0.363																																						uc004bkf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(1876-1878)TAT>TGT		CDK5 regulatory subunit associated protein 2							30.0	31.0	30.0					9																	123232480		2194	4297	6491	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123232480T>C	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1877A>G	9.37:g.123232480T>C	ENSP00000343818:p.Tyr626Cys					CDK5RAP2_uc004bke.2_5'UTR|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Y626C|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Y625C|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Y425C	p.Y626C	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			17	2058	-			626					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1877A>G	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727706	0.48833	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.18810	3.89;3.78;3.92;3.82;2.19	5.57	4.44	0.53790	.	0.117408	0.39210	N	0.001437	T	0.27967	0.0689	N	0.20986	0.625	0.34900	D	0.746362	P;P;D;B	0.89917	0.559;0.559;1.0;0.423	B;B;D;B	0.91635	0.329;0.264;0.999;0.135	T	0.33624	-0.9861	10	0.59425	D	0.04	.	7.4366	0.27158	0.0:0.0942:0.0:0.9058	.	427;626;626;626	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	C	626;626;626;626;52;627	ENSP00000354065:Y626C;ENSP00000352258:Y626C;ENSP00000343818:Y626C;ENSP00000353317:Y626C;ENSP00000400395:Y52C	ENSP00000341695:Y627C	Y	-	2	0	CDK5RAP2	122272301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.523000	0.45580	2.126000	0.65437	0.533000	0.62120	TAT		0.363	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249		7	19	0	0	0	0.001984	0	7	19		
SPTAN1	6709	broad.mit.edu	37	9	131329130	131329130	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:131329130T>C	ENST00000372731.4	+	2	221	c.111T>C	c.(109-111)cgT>cgC	p.R37R	SPTAN1_ENST00000358161.5_Silent_p.R37R|SPTAN1_ENST00000372739.3_Silent_p.R37R	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	37					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R37R(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCTTAGGCGTCAGAAGCTGG	0.493																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(109-111)CGT>CGC		spectrin, alpha, non-erythrocytic 1							103.0	102.0	102.0					9																	131329130		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131329130T>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.111T>C	9.37:g.131329130T>C						SPTAN1_uc011mbg.1_Silent_p.R37R|SPTAN1_uc011mbh.1_Silent_p.R49R|SPTAN1_uc004bvm.3_Silent_p.R37R|SPTAN1_uc004bvn.3_Silent_p.R37R	p.R37R	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			2	224	+			37			Spectrin 1.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.111T>C	CCDS6905.1																																																																																				0.493	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		72	55	0	0	0	0.00361	0	72	55		
MSL3	10943	broad.mit.edu	37	X	11783848	11783848	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:11783848A>G	ENST00000312196.4	+	9	1276	c.1171A>G	c.(1171-1173)Aag>Gag	p.K391E	MSL3_ENST00000337339.2_Missense_Mutation_p.S391G|MSL3_ENST00000380693.3_Splice_Site_p.K225E|MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000361672.2_Splice_Site_p.K242E|MSL3_ENST00000398527.2_Splice_Site_p.K379E	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	391	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.			K -> E (in Ref. 2; AK025642). {ECO:0000305}.	chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K391E(1)|p.S391G(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCTGGAAAAGAGTAGGTTCAT	0.582																																						uc004cuw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1171-1173)AAG>GAG		male-specific lethal 3-like 1 isoform a							105.0	92.0	96.0					X																	11783848		2203	4300	6503	SO:0001630	splice_region_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783848A>G	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1171+1A>G	X.37:g.11783848A>G						MSL3_uc004cuv.1_Missense_Mutation_p.S391G|MSL3_uc004cux.2_Missense_Mutation_p.K332E|MSL3_uc011mig.1_Missense_Mutation_p.K242E|MSL3_uc011mih.1_Missense_Mutation_p.K379E|MSL3_uc004cuy.2_Missense_Mutation_p.K225E	p.K391E	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			9	1276	+			391					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1171A>G	CCDS14147.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.07|14.07	2.427023|2.427023	0.43122|0.43122	.|.	.|.	ENSG00000005302|ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693|ENST00000337339	T;T;T;T|T	0.10477|0.06849	3.22;2.87;3.04;2.88|3.25	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.13756|0.13756	0.0333|0.0333	L|L	0.60957|0.60957	1.885|1.885	0.39090|0.39090	D|D	0.961071|0.961071	P;B;B;P|D	0.46395|0.58268	0.877;0.051;0.27;0.775|0.982	P;B;B;B|P	0.51615|0.46718	0.675;0.03;0.147;0.306|0.525	T|T	0.03695|0.03695	-1.1012|-1.1012	10|9	0.30854|0.59425	T|D	0.27|0.04	.|.	13.0401|13.0401	0.58895|0.58895	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	379;242;332;391|391	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2|A6NHW8	.;.;.;MS3L1_HUMAN|.	E|G	391;242;379;225|391	ENSP00000312244:K391E;ENSP00000354562:K242E;ENSP00000381538:K379E;ENSP00000370069:K225E|ENSP00000338078:S391G	ENSP00000312244:K391E|ENSP00000338078:S391G	K|S	+|+	1|1	0|0	MSL3|MSL3	11693769|11693769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.014000|6.014000	0.70784|0.70784	1.515000|1.515000	0.48885|0.48885	0.486000|0.486000	0.48141|0.48141	AAG|AGT		0.582	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1		NM_006800	Missense_Mutation	39	39	0	0	0	0.006999	0	39	39		
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	WGS			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		10	Whole gene deletion(6)|Substitution - Nonsense(2)|No detectable mRNA/protein(2)		urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1663-1665)CAG>TAG		ubiquitously transcribed tetratricopeptide							97.0	65.0	76.0					X																	44922802		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922802C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1663C>T	X.37:g.44922802C>T	ENSP00000367203:p.Gln555*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	p.Q555*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2038	+			555					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1663C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.560972|4.560972	0.86335|0.86335	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|T;T	.|0.23552	.|1.9;1.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.200761|.	0.44285|.	D|.	0.000466|.	.|T	.|0.47040	.|0.1424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57294	.|-0.7836	.|5	0.38643|0.62326	T|D	0.18|0.03	-5.3391|-5.3391	17.0783|17.0783	0.86591|0.86591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	252;555;510;562;476;148|152;197	.|ENSP00000405910:S152L;ENSP00000398929:S197L	ENSP00000334340:Q252X|ENSP00000405910:S152L	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44807746|44807746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.160000|7.160000	0.77495|0.77495	2.039000|2.039000	0.60335|0.60335	0.509000|0.509000	0.49947|0.49947	CAG|TCA		0.567	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		13	9	0	0	0	0.006122	0	13	9		
VSIG4	11326	broad.mit.edu	37	X	65242174	65242174	+	Silent	SNP	G	G	A	rs200220547		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:65242174G>A	ENST00000374737.4	-	8	1239	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	VSIG4_ENST00000412866.2_Silent_p.Y283Y|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	377					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Y377Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGGCGGGCGTAGTTGCCAT	0.517																																						uc004dwh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1129-1131)TAC>TAT		V-set and immunoglobulin domain containing 4		G	,,,	0,3835		0,0,1632,571	90.0	71.0	78.0		849,,,1131	-6.7	0.0	X		78	1,6727		0,1,2427,1872	no	coding-synonymous,utr-3,utr-3,coding-synonymous	VSIG4	NM_001100431.1,NM_001184830.1,NM_001184831.1,NM_007268.2	,,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,,	283/306,,,377/400	65242174	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242174G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1131C>T	X.37:g.65242174G>A						VSIG4_uc004dwi.2_Silent_p.Y283Y|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron	p.Y377Y	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			8	1258	-			377			Cytoplasmic (Potential).		Q6UXI4	Silent	SNP	ENST00000374737.4	37	c.1131C>T	CCDS14383.1																																																																																				0.517	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1		NM_007268		7	14	0	0	0	0.00308	0	7	14		
OGT	8473	broad.mit.edu	37	X	70784470	70784470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:70784470C>T	ENST00000373719.3	+	19	2673	c.2456C>T	c.(2455-2457)aCt>aTt	p.T819I	OGT_ENST00000373701.3_Missense_Mutation_p.T809I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	819					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.T819I(1)|p.T809I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAGGCTGCAACTGGAGAGGAG	0.368																																						uc004eaa.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(2455-2457)ACT>ATT		O-linked GlcNAc transferase isoform 1							94.0	79.0	84.0					X																	70784470		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70784470C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2456C>T	X.37:g.70784470C>T	ENSP00000362824:p.Thr819Ile					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.T809I|OGT_uc004eac.2_Missense_Mutation_p.T680I|OGT_uc004ead.2_Missense_Mutation_p.T438I	p.T819I	NM_181672	NP_858058	O15294	OGT1_HUMAN			19	2673	+	Renal(35;0.156)		819					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2456C>T	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173638	0.57584	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.74315	-0.83;-0.83	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84156	0.5410	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.964	P;D;P	0.79108	0.85;0.992;0.762	D	0.84188	0.0443	10	0.46703	T	0.11	.	18.2254	0.89915	0.0:1.0:0.0:0.0	.	693;809;819	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	I	819;809	ENSP00000362824:T819I;ENSP00000362805:T809I	ENSP00000362805:T809I	T	+	2	0	OGT	70701195	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.749000	0.85096	2.329000	0.79093	0.600000	0.82982	ACT		0.368	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3		NM_003605, NM_181672		15	14	0	0	0	0.006122	0	15	14		
TAF7L	54457	broad.mit.edu	37	X	100532627	100532627	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:100532627T>A	ENST00000372907.3	-	9	927	c.916A>T	c.(916-918)Atg>Ttg	p.M306L	TAF7L_ENST00000356784.1_Missense_Mutation_p.M220L|TAF7L_ENST00000372905.2_Missense_Mutation_p.M220L|TAF7L_ENST00000324762.6_Missense_Mutation_p.M220L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	306					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.M306L(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGCTGCTCATTCCCGAGGAT	0.458																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(916-918)ATG>TTG		TATA box binding protein-associated factor, RNA							177.0	168.0	171.0					X																	100532627		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100532627T>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.916A>T	X.37:g.100532627T>A	ENSP00000361998:p.Met306Leu					TAF7L_uc004eha.2_Missense_Mutation_p.M220L|TAF7L_uc004ehc.1_Missense_Mutation_p.M220L	p.M306L	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			9	928	-			306					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.916A>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	t	11.10	1.539133	0.27475	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.19105	3.76;2.17;2.17;3.3	5.18	0.93	0.19454	.	1.163740	0.06310	N	0.702588	T	0.19127	0.0459	L	0.46157	1.445	0.09310	N	0.999999	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.32295	-0.9912	10	0.30854	T	0.27	1.8139	7.4313	0.27128	0.1339:0.0:0.2732:0.5928	.	306;220	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	L	306;220;220;220	ENSP00000361998:M306L;ENSP00000361996:M220L;ENSP00000320283:M220L;ENSP00000349235:M220L	ENSP00000320283:M220L	M	-	1	0	TAF7L	100419283	0.893000	0.30496	0.000000	0.03702	0.012000	0.07955	3.128000	0.50492	0.188000	0.20168	0.483000	0.47432	ATG		0.458	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2				69	38	0	0	0	0.00361	0	69	38		
GPR112	139378	broad.mit.edu	37	X	135428141	135428141	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:135428141T>G	ENST00000394143.1	+	6	2567	c.2276T>G	c.(2275-2277)tTa>tGa	p.L759*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.L696*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.L554*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.L554*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.L759*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	759					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L759*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTACCACTTTACTACTAAAA	0.358																																						uc004ezu.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2275-2277)TTA>TGA		G-protein coupled receptor 112							67.0	59.0	62.0					X																	135428141		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428141T>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2276T>G	X.37:g.135428141T>G	ENSP00000377699:p.Leu759*					GPR112_uc010nsb.1_Nonsense_Mutation_p.L554*|GPR112_uc010nsc.1_Nonsense_Mutation_p.L526*	p.L759*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	2567	+	Acute lymphoblastic leukemia(192;0.000127)		759			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.2276T>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	t	38	7.052278	0.98029	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	2.86	0.471	0.16752	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0938	0.09982	0.0:0.3724:0.0:0.6276	.	.	.	.	X	759;759;554;696;554	.	ENSP00000287534:L696X	L	+	2	0	GPR112	135255807	0.016000	0.18221	0.002000	0.10522	0.018000	0.09664	0.255000	0.18333	0.205000	0.20568	0.231000	0.17811	TTA		0.358	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1				23	25	0	0	0	0.00333	0	23	25		
RYR2	6262	broad.mit.edu	37	1	237972206	237972209	+	Frame_Shift_Del	DEL	ATTA	ATTA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:237972206_237972209delATTA	ENST00000366574.2	+	100	14621_14624	c.14304_14307delATTA	c.(14302-14307)gtattafs	p.VL4768fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.VL4774fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.VL4752fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4768					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)			TCCAGCTCGTATTAACCGTTGGCT	0.407																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14302-14307)GTATTAfs		cardiac muscle ryanodine receptor																																				SO:0001589	frameshift_variant	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.chr1:237972206_237972209delATTA	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.14304_14307delATTA	1.37:g.237972206_237972209delATTA	ENSP00000355533:p.Val4768fs					RYR2_uc010pyb.1_Frame_Shift_Del_p.V201fs	p.V4768fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		100	14424_14427	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4768_4769			Helical; Name=M8; (Potential).		Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.14304_14307delATTA	CCDS55691.1																																																																																				0.407	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		46	306	NaN	NaN	NaN	NaN	NaN	46	306	---	---
MYRF	745	broad.mit.edu	37	11	61544788	61544806	+	Frame_Shift_Del	DEL	CACAGGTGCCCGACACCGT	CACAGGTGCCCGACACCGT	-	rs75764154|rs144177087	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:61544788_61544806delCACAGGTGCCCGACACCGT	ENST00000278836.5	+	12	1739_1757	c.1643_1661delCACAGGTGCCCGACACCGT	c.(1642-1662)gcacaggtgcccgacaccgtcfs	p.AQVPDTV548fs	MYRF_ENST00000327797.1_Frame_Shift_Del_p.AQVPDTV173fs|MYRF_ENST00000265460.5_Frame_Shift_Del_p.AQVPDTV539fs|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	548					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGGCAGCGGGCACAGGTGCCCGACACCGTCTTCCACCAC	0.653																																						uc001nsc.1		NaN																	0				breast(1)	1						c.(1642-1662)GCACAGGTGCCCGACACCGTCfs		myelin gene regulatory factor isoform 2																																				SO:0001589	frameshift_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61544788_61544806delCACAGGTGCCCGACACCGT		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1643_1661delCACAGGTGCCCGACACCGT	11.37:g.61544788_61544806delCACAGGTGCCCGACACCGT	ENSP00000278836:p.Ala548fs					C11orf9_uc001nse.1_Frame_Shift_Del_p.A539fs|C11orf9_uc010rll.1_5'Flank	p.A548fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			12	1739_1757	+			548_554					O43582|Q9P1Q6	Frame_Shift_Del	DEL	ENST00000278836.5	37	c.1643_1661delCACAGGTGCCCGACACCGT	CCDS44622.1																																																																																				0.653	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279		8	13	NaN	NaN	NaN	NaN	NaN	8	13	---	---
AVIL	10677	broad.mit.edu	37	12	58197160	58197179	+	Splice_Site	DEL	ATTTCCTGCTGAAGTCTGCA	ATTTCCTGCTGAAGTCTGCA	-	rs201495811	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:58197160_58197179delATTTCCTGCTGAAGTCTGCA	ENST00000257861.3	-	15	2248_2262	c.1818_1832delTGCAGACTTCAGCAGGAAAT	c.(1816-1833)agtgcagacttcagcagg>agg	p.SADFS606fs	TSFM_ENST00000548851.1_Intron|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'UTR|RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000537081.1_Splice_Site_p.SADFS599fs	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	606	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACATCTAGGATTTCCTGCTGAAGTCTGCAATATAGTCCA	0.459											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sqj.1		NaN																	0				central_nervous_system(1)	1						c.e15-1		advillin																																				SO:0001630	splice_region_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58197160_58197179delATTTCCTGCTGAAGTCTGCA	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1818-1TGCAGACTTCAGCAGGAAAT>-	12.37:g.58197160_58197179delATTTCCTGCTGAAGTCTGCA			OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	AVIL_uc009zqe.1_Splice_Site_p.R599_splice|AVIL_uc001sqk.1_Splice_Site_p.R184_splice	p.R606_splice	NM_006576	NP_006567	O75366	AVIL_HUMAN			15	1847	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)							B2RAU7|Q2NKM9	Splice_Site	DEL	ENST00000257861.3	37	c.1818_splice	CCDS8959.1																																																																																				0.459	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1		NM_006576	Frame_Shift_Del	34	59	NaN	NaN	NaN	NaN	NaN	34	59	---	---
NUP107	57122	broad.mit.edu	37	12	69120293	69120305	+	Frame_Shift_Del	DEL	TTTAGCAAATGGC	TTTAGCAAATGGC	-	rs574527032		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:69120293_69120305delTTTAGCAAATGGC	ENST00000229179.4	+	19	1923_1935	c.1591_1603delTTTAGCAAATGGC	c.(1591-1605)tttagcaaatggcttfs	p.FSKWL531fs	NUP107_ENST00000539906.1_Frame_Shift_Del_p.FSKWL502fs|NUP107_ENST00000378905.2_Frame_Shift_Del_p.FSKWL380fs	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	531					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)			GATGGATGAGTTTAGCAAATGGCTTTCCAAAAG	0.352																																						uc001suf.2		NaN																	0				skin(1)	1						c.(1591-1605)TTTAGCAAATGGCTTfs		nucleoporin 107kDa																																				SO:0001589	frameshift_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.chr12:69120293_69120305delTTTAGCAAATGGC	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.1591_1603delTTTAGCAAATGGC	12.37:g.69120293_69120305delTTTAGCAAATGGC	ENSP00000229179:p.Phe531fs					NUP107_uc001sug.2_Frame_Shift_Del_p.F378fs|NUP107_uc010stj.1_Frame_Shift_Del_p.F502fs	p.F531fs	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		19	1706_1718	+	Breast(13;6.25e-06)		531_535					B4DZ67|Q6PJE1	Frame_Shift_Del	DEL	ENST00000229179.4	37	c.1591_1603delTTTAGCAAATGGC	CCDS8985.1																																																																																				0.352	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1		NM_020401		25	277	NaN	NaN	NaN	NaN	NaN	25	277	---	---
TBX5	6910	broad.mit.edu	37	12	114836462	114836462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:114836462delG	ENST00000310346.4	-	5	1092	c.426delC	c.(424-426)cccfs	p.P142fs	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Frame_Shift_Del_p.P142fs|TBX5_ENST00000349716.5_Frame_Shift_Del_p.P92fs|TBX5_ENST00000405440.2_Frame_Shift_Del_p.P142fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	142					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCCCGGTGGCGGGGGAGTCTG	0.612																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(424-426)CCCfs		T-box 5 isoform 1							57.0	48.0	51.0					12																	114836462		2203	4300	6503	SO:0001589	frameshift_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114836462delG	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.426delC	12.37:g.114836462delG	ENSP00000309913:p.Pro142fs					TBX5_uc001tvp.2_Frame_Shift_Del_p.P142fs|TBX5_uc001tvq.2_Frame_Shift_Del_p.P92fs|TBX5_uc010syv.1_Frame_Shift_Del_p.P142fs	p.P142fs	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	921	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		142			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Frame_Shift_Del	DEL	ENST00000310346.4	37	c.426delC	CCDS9173.1																																																																																				0.612	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		NM_080717		18	22	NaN	NaN	NaN	NaN	NaN	18	22	---	---
ZNF768	79724	broad.mit.edu	37	16	30537683	30537692	+	Frame_Shift_Del	DEL	AACTCTGCAC	AACTCTGCAC	-	rs145753318|rs571375878		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:30537683_30537692delAACTCTGCAC	ENST00000380412.5	-	1	218_227	c.43_52delGTGCAGAGTT	c.(43-54)gtgcagagttctfs	p.VQSS15fs	ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron|ZNF768_ENST00000562803.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	15					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATTTCGTCAGAACTCTGCACATCCTGGGGC	0.714																																						uc002dyk.3		NaN																	0					0						c.(43-54)GTGCAGAGTTCTfs		zinc finger protein 768																																				SO:0001589	frameshift_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537683_30537692delAACTCTGCAC	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.43_52delGTGCAGAGTT	16.37:g.30537683_30537692delAACTCTGCAC	ENSP00000369777:p.Val15fs					ZNF768_uc010vex.1_Intron|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Intron	p.V15fs	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			1	219_228	-			15_18					Q569L7|Q96CX4	Frame_Shift_Del	DEL	ENST00000380412.5	37	c.43_52delGTGCAGAGTT	CCDS10681.2																																																																																				0.714	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2		NM_024671		7	28	NaN	NaN	NaN	NaN	NaN	7	28	---	---
NFAT5	10725	broad.mit.edu	37	16	69725894	69725908	+	In_Frame_Del	DEL	ATTGCAGCAGGCTAC	ATTGCAGCAGGCTAC	-	rs374016821		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:69725894_69725908delATTGCAGCAGGCTAC	ENST00000354436.2	+	12	2430_2444	c.2112_2126delATTGCAGCAGGCTAC	c.(2110-2127)ctattgcagcaggctaca>cta	p.LQQAT705del	NFAT5_ENST00000567239.1_In_Frame_Del_p.LQQAT722del|NFAT5_ENST00000432919.1_In_Frame_Del_p.LQQAT723del|NFAT5_ENST00000349945.1_In_Frame_Del_p.LQQAT629del|NFAT5_ENST00000566899.1_In_Frame_Del_p.LQQAT629del|NFAT5_ENST00000393742.2_In_Frame_Del_p.LQQAT629del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	705					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCGATGCACTATTGCAGCAGGCTACACAGTTTCAG	0.465																																						uc002exm.1		NaN																	0					0						c.(2110-2127)CTATTGCAGCAGGCTACA>CTA		nuclear factor of activated T-cells 5 isoform c																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69725894_69725908delATTGCAGCAGGCTAC	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2112_2126delATTGCAGCAGGCTAC	16.37:g.69725894_69725908delATTGCAGCAGGCTAC	ENSP00000346420:p.Leu705_Thr709del					NFAT5_uc002exi.2_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exj.1_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exk.1_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exl.1_In_Frame_Del_p.LQQAT723del|NFAT5_uc002exn.1_In_Frame_Del_p.LQQAT722del|NFAT5_uc002exo.1_5'Flank	p.LQQAT705del	NM_006599	NP_006590	O94916	NFAT5_HUMAN			12	3320_3334	+			705_709					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2112_2126delATTGCAGCAGGCTAC	CCDS10881.1																																																																																				0.465	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714		13	65	NaN	NaN	NaN	NaN	NaN	13	65	---	---
PKD1L2	114780	broad.mit.edu	37	16	81232612	81232624	+	RNA	DEL	GGGTGGTGGACTC	GGGTGGTGGACTC	-	rs200535438|rs367962541|rs527848230		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:81232612_81232624delGGGTGGTGGACTC	ENST00000525539.1	-	0	1185_1197				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAGCCCTTTTGGGTGGTGGACTCGGCCAGGGTT	0.516																																						uc002fgh.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1186-1200)GAGTCCACCACCCAAfs		polycystin 1-like 2 isoform a																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232612_81232624delGGGTGGTGGACTC	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232612_81232624delGGGTGGTGGACTC						PKD1L2_uc002fgj.2_Frame_Shift_Del_p.E396fs	p.E396fs	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			7	1186_1198	-			396_400			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Frame_Shift_Del	DEL	ENST00000525539.1	37	c.1186_1198delGAGTCCACCACCC																																																																																					0.516	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2				15	84	NaN	NaN	NaN	NaN	NaN	15	84	---	---
RBM44	375316	broad.mit.edu	37	2	238726935	238726943	+	In_Frame_Del	DEL	CAAGTTGTA	CAAGTTGTA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:238726935_238726943delCAAGTTGTA	ENST00000409864.1	+	3	1630_1638	c.1376_1384delCAAGTTGTA	c.(1375-1386)gcaagttgtaca>gca	p.SCT460del	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_In_Frame_Del_p.SCT460del			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	459						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACAGATGCAGCAAGTTGTACAGTCACAAT	0.397																																						uc002vxi.3		NaN																	0				ovary(4)	4						c.(1375-1386)GCAAGTTGTACA>GCA		RNA binding motif protein 44																																				SO:0001651	inframe_deletion	375316						nucleotide binding|RNA binding	g.chr2:238726935_238726943delCAAGTTGTA	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1376_1384delCAAGTTGTA	2.37:g.238726935_238726943delCAAGTTGTA	ENSP00000386727:p.Ser460_Thr462del						p.SCT460del	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1508_1516	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	459_461					A0AUW3	In_Frame_Del	DEL	ENST00000409864.1	37	c.1376_1384delCAAGTTGTA	CCDS46554.1																																																																																				0.397	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2		NM_001080504		24	65	NaN	NaN	NaN	NaN	NaN	24	65	---	---
HK3	3101	broad.mit.edu	37	5	176308405	176308406	+	Frame_Shift_Ins	INS	-	-	C	rs145283059		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:176308405_176308406insC	ENST00000292432.5	-	18	2615_2616	c.2524_2525insG	c.(2524-2526)gcgfs	p.A842fs		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	842	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTACACCCGCCCCACAGAGC	0.639																																						uc003mfa.2		NaN																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(2524-2526)GCGfs		hexokinase 3																																				SO:0001589	frameshift_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308405_176308406insC		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2525dupG	5.37:g.176308409_176308409dupC	ENSP00000292432:p.Ala842fs					HK3_uc003mez.2_Frame_Shift_Ins_p.A398fs	p.A842fs	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2616_2617	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	842			Catalytic.		Q8N1E7	Frame_Shift_Ins	INS	ENST00000292432.5	37	c.2524_2525insG	CCDS4407.1																																																																																				0.639	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1				24	29	NaN	NaN	NaN	NaN	NaN	24	29	---	---
SGK1	6446	broad.mit.edu	37	6	134493873	134493887	+	In_Frame_Del	DEL	GTTCCAGGAAGCAGC	GTTCCAGGAAGCAGC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:134493873_134493887delGTTCCAGGAAGCAGC	ENST00000237305.7	-	7	663_677	c.575_589delGCTGCTTCCTGGAAC	c.(574-591)cgctgcttcctggaacca>cca	p.RCFLE192del	SGK1_ENST00000367857.5_In_Frame_Del_p.RCFLE182del|SGK1_ENST00000367858.5_In_Frame_Del_p.RCFLE287del|SGK1_ENST00000528577.1_In_Frame_Del_p.RCFLE220del|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000413996.3_In_Frame_Del_p.RCFLE206del|SGK1_ENST00000475719.2_In_Frame_Del_p.RCFLE148del	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.C193Y(1)|p.C288Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CGAGCCCGTGGTTCCAGGAAGCAGCGTTCCCTCTG	0.46																																						uc003qen.3		NaN																	2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(2)	skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6						c.(574-591)CGCTGCTTCCTGGAACCA>CCA		serum/glucocorticoid regulated kinase 1 isoform																																				SO:0001651	inframe_deletion	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134493873_134493887delGTTCCAGGAAGCAGC	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.575_589delGCTGCTTCCTGGAAC	6.37:g.134493873_134493887delGTTCCAGGAAGCAGC	ENSP00000237305:p.Arg192_Glu196del					SGK1_uc003qeo.3_In_Frame_Del_p.RCFLE287del|SGK1_uc011ect.1_In_Frame_Del_p.RCFLE182del|SGK1_uc011ecu.1_In_Frame_Del_p.RCFLE148del|SGK1_uc011ecv.1_In_Frame_Del_p.RCFLE206del|SGK1_uc011ecw.1_In_Frame_Del_p.RCFLE220del	p.RCFLE192del	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	7	664_678	-	Colorectal(23;0.221)		192_196	E -> G (in Ref. 4; CAR58095).		Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	In_Frame_Del	DEL	ENST00000237305.7	37	c.575_589delGCTGCTTCCTGGAAC	CCDS5170.1																																																																																				0.460	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2				13	28	NaN	NaN	NaN	NaN	NaN	13	28	---	---
CDK13	8621	broad.mit.edu	37	7	40027759	40027772	+	Frame_Shift_Del	DEL	AGGAGCCAAGGAGA	AGGAGCCAAGGAGA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:40027759_40027772delAGGAGCCAAGGAGA	ENST00000181839.4	+	2	2378_2391	c.1773_1786delAGGAGCCAAGGAGA	c.(1771-1788)ataggagccaaggagaagfs	p.GAKEK592fs	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Frame_Shift_Del_p.GAKEK592fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	592					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACCAAGCATAGGAGCCAAGGAGAAGGAGCAACA	0.43																																						uc003thh.3		NaN																	0				lung(2)|skin(2)|ovary(1)	5						c.(1771-1788)ATAGGAGCCAAGGAGAAGfs		cell division cycle 2-like 5 isoform 1																																				SO:0001589	frameshift_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027759_40027772delAGGAGCCAAGGAGA	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1773_1786delAGGAGCCAAGGAGA	7.37:g.40027759_40027772delAGGAGCCAAGGAGA	ENSP00000181839:p.Gly592fs					CDK13_uc003thi.3_Frame_Shift_Del_p.I591fs|CDK13_uc011kbf.1_5'UTR	p.I591fs	NM_003718	NP_003709	Q14004	CDK13_HUMAN			2	2055_2068	+			591_596					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Frame_Shift_Del	DEL	ENST00000181839.4	37	c.1773_1786delAGGAGCCAAGGAGA	CCDS5461.1																																																																																				0.430	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2		NM_003718		12	40	NaN	NaN	NaN	NaN	NaN	12	40	---	---
NBN	4683	broad.mit.edu	37	8	90955588	90955607	+	Splice_Site	DEL	ATGTGACCTATTGAATAATA	ATGTGACCTATTGAATAATA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:90955588_90955607delATGTGACCTATTGAATAATA	ENST00000265433.3	-	14	2225_2231	c.2071_2077delTATTATTCAATAGGTCACAT	c.(2071-2079)tattattca>ca	p.YYS691fs	NBN_ENST00000409330.1_Splice_Site_p.YYS609fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	691					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GCTCCAGGATATGTGACCTATTGAATAATAAAAGTAGTAC	0.336								Homologous recombination																														uc003yej.1		NaN																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.e14-1	Direct_reversal_of_damage|Homologous_recombination	nibrin																																				SO:0001630	splice_region_variant	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90955588_90955607delATGTGACCTATTGAATAATA	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2071-1TATTATTCAATAGGTCACAT>-	8.37:g.90955588_90955607delATGTGACCTATTGAATAATA						NBN_uc003yei.1_Splice_Site_p.V609_splice|NBN_uc011lgb.1_Splice_Site_p.V691_splice	p.V691_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		14	2181	-								B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Splice_Site	DEL	ENST00000265433.3	37	c.2071_splice	CCDS6249.1																																																																																				0.336	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3		NM_001024688	Frame_Shift_Del	45	94	NaN	NaN	NaN	NaN	NaN	45	94	---	---
