#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MTHFR	4524	broad.mit.edu	37	1	11854027	11854027	+	Silent	SNP	G	G	A	rs374026519		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:11854027G>A	ENST00000376592.1	-	8	1595	c.1467C>T	c.(1465-1467)aaC>aaT	p.N489N	MTHFR_ENST00000376585.1_Silent_p.N530N|MTHFR_ENST00000376590.3_Silent_p.N489N|MTHFR_ENST00000376583.3_Silent_p.N530N			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	489					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	ACGGCTTCCCGTTGATGTTGG	0.657																																						uc001atc.1		NA																	0					0						c.(1465-1467)AAC>AAT		5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						93.0	98.0	96.0					1																	11854027		2203	4300	6503	SO:0001819	synonymous_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11854027G>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1467C>T	1.37:g.11854027G>A						MTHFR_uc001atb.1_Silent_p.N512N	p.N489N	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	9	1651	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	489					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	c.1467C>T	CCDS137.1																																																																																				0.657	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		35	73	0	0	0	0	35	73				
SH3D21	79729	broad.mit.edu	37	1	36785374	36785374	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:36785374C>T	ENST00000426732.2	+	13	1047	c.762C>T	c.(760-762)aaC>aaT	p.N254N	SH3D21_ENST00000453908.2_Silent_p.N370N|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000505871.1_Silent_p.N259N|SH3D21_ENST00000312808.4_Silent_p.N16N			A4FU49	SH321_HUMAN	SH3 domain containing 21	254						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CTCCAGAGAACGCCCCCAGCT	0.622																																						uc010oia.1		NA																	0					0						c.(1108-1110)AAC>AAT		SH3 domain-containing protein C1orf113 isoform							36.0	49.0	45.0					1																	36785374		2203	4299	6502	SO:0001819	synonymous_variant	79729							g.chr1:36785374C>T	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.762C>T	1.37:g.36785374C>T						C1orf113_uc010oib.1_Silent_p.N259N|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.N16N	p.N370N	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN			14	1138	+		Myeloproliferative disorder(586;0.0393)	254					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	ENST00000426732.2	37	c.1110C>T																																																																																					0.622	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		12	23	0	0	0	0	12	23				
GPBP1L1	60313	broad.mit.edu	37	1	46096158	46096159	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:46096158_46096159GC>AA	ENST00000290795.3	-	10	2385_2386	c.1164_1165GC>TT	c.(1162-1167)gaGCac>gaTTac	p.388_389EH>DY	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.388_389EH>DY|GPBP1L1_ENST00000479235.1_5'UTR			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	388					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACTTACCTGTGCTCTGCTTCTA	0.49																																						uc001coq.2		NA																	0				ovary(1)	1						c.(1162-1167)GAGCAC>GATTAC		GC-rich promoter binding protein 1-like 1																																				SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46096158_46096159GC>AA		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.1164_1165delinsAA	1.37:g.46096158_46096159delinsAA	ENSP00000290795:p.E388_H389delinsDY					GPBP1L1_uc001coo.2_Missense_Mutation_p.132_133EH>DY	p.388_389EH>DY	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			11	2525_2526	-	Acute lymphoblastic leukemia(166;0.155)		388_389					D3DQ10|Q9H751	Missense_Mutation	DNP	ENST00000290795.3	37	c.1164_1165GC>TT	CCDS528.1																																																																																				0.490	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		18	69	0	0	0	0	18	69				
LRRC41	10489	broad.mit.edu	37	1	46751227	46751227	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:46751227T>C	ENST00000343304.6	-	4	1587	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	434					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACAAGCCACTTCCCCAATCT	0.547																																						uc001cpn.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1300-1302)GAA>GAG		MUF1 protein							104.0	98.0	100.0					1																	46751227		2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46751227T>C	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1302A>G	1.37:g.46751227T>C						LRRC41_uc010omb.1_Silent_p.E434E|LRRC41_uc001cpo.1_Silent_p.E434E	p.E434E	NM_006369	NP_006360	Q15345	LRC41_HUMAN			4	1346	-	Acute lymphoblastic leukemia(166;0.155)		434					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.1302A>G	CCDS533.1																																																																																				0.547	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		34	57	0	0	0	0	34	57				
CYP4B1	1580	broad.mit.edu	37	1	47279983	47279983	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:47279983C>T	ENST00000271153.4	+	7	911	c.875C>T	c.(874-876)gCc>gTc	p.A292V	CYP4B1_ENST00000371923.4_Missense_Mutation_p.A293V|CYP4B1_ENST00000452782.2_Missense_Mutation_p.A130V|CYP4B1_ENST00000371919.4_Missense_Mutation_p.A278V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	292					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CTCCTGGGTGCCCGGGTGAGT	0.582																																						uc001cqm.3		NA																	0				ovary(1)|skin(1)	2						c.(874-876)GCC>GTC		cytochrome P450, family 4, subfamily B,							63.0	64.0	64.0					1																	47279983		2202	4300	6502	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279983C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.875C>T	1.37:g.47279983C>T	ENSP00000271153:p.Ala292Val					CYP4B1_uc009vyl.1_Missense_Mutation_p.A129V|CYP4B1_uc001cqn.3_Missense_Mutation_p.A293V|CYP4B1_uc009vym.2_Missense_Mutation_p.A278V|CYP4B1_uc010omk.1_Missense_Mutation_p.A129V|CYP4B1_uc010oml.1_Missense_Mutation_p.A130V	p.A292V	NM_000779	NP_000770	P13584	CP4B1_HUMAN			7	959	+	Acute lymphoblastic leukemia(166;0.155)		292					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.875C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529891	0.45073	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.7	0.329	0.15924	.	0.277034	0.40640	N	0.001045	T	0.70482	0.3229	L	0.60012	1.86	0.20196	N	0.999924	B;B;B;B	0.26041	0.05;0.085;0.115;0.14	B;B;B;B	0.43575	0.086;0.134;0.299;0.424	T	0.66240	-0.5973	10	0.56958	D	0.05	.	7.0328	0.24977	0.0:0.5578:0.1067:0.3356	.	130;278;293;292	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	V	293;292;278;130;129	ENSP00000360991:A293V;ENSP00000271153:A292V;ENSP00000360987:A278V;ENSP00000400413:A130V;ENSP00000437670:A129V	ENSP00000271153:A292V	A	+	2	0	CYP4B1	47052570	0.107000	0.21998	0.001000	0.08648	0.030000	0.12068	0.659000	0.24994	0.033000	0.15463	0.549000	0.68633	GCC		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		12	16	0	0	0	0	12	16				
ZCCHC11	23318	broad.mit.edu	37	1	52940829	52940829	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:52940829G>C	ENST00000371544.3	-	13	2664	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S801C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	801					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTGCTGGTAGAAAGAGATGA	0.358																																						uc001ctx.2		NA																	0				ovary(2)|skin(1)	3						c.(2401-2403)TCT>TGT		zinc finger, CCHC domain containing 11 isoform							146.0	146.0	146.0					1																	52940829		2202	4300	6502	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940829G>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2402C>G	1.37:g.52940829G>C	ENSP00000360599:p.Ser801Cys					ZCCHC11_uc001cty.2_Missense_Mutation_p.S801C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S801C|ZCCHC11_uc009vze.1_Missense_Mutation_p.S801C|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S560C|ZCCHC11_uc001cub.2_Missense_Mutation_p.S801C	p.S801C	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2636	-			801					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2402C>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821136	0.16678	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46451	0.87;0.88;0.89;0.88	5.49	-0.686	0.11324	.	0.403313	0.21254	N	0.077599	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08513	-1.0718	10	0.51188	T	0.08	.	1.7301	0.02930	0.46:0.1958:0.221:0.1231	.	560;801	E9PKX1;Q5TAX3	.;TUT4_HUMAN	C	801;801;730;560	ENSP00000257177:S801C;ENSP00000360599:S801C;ENSP00000433486:S730C;ENSP00000435256:S560C	ENSP00000257177:S801C	S	-	2	0	ZCCHC11	52713417	0.935000	0.31712	0.975000	0.42487	0.523000	0.34469	1.191000	0.32138	0.220000	0.20860	0.557000	0.71058	TCT		0.358	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		23	133	0	0	0	0	23	133				
AK5	26289	broad.mit.edu	37	1	77806144	77806144	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:77806144A>G	ENST00000354567.2	+	6	1045	c.782A>G	c.(781-783)cAg>cGg	p.Q261R	AK5_ENST00000344720.5_Missense_Mutation_p.Q235R	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	261	Adenylate kinase 1.|LID 1. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCAGAACAGCAGGGCCGACCA	0.468																																						uc001dhn.2		NA																	0				skin(1)	1						c.(781-783)CAG>CGG		adenylate kinase 5 isoform 1							158.0	147.0	151.0					1																	77806144		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77806144A>G	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.782A>G	1.37:g.77806144A>G	ENSP00000346577:p.Gln261Arg					AK5_uc001dho.2_Missense_Mutation_p.Q235R	p.Q261R	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			6	1039	+			261					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.782A>G	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697291	0.88830	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.70869	-0.52;-0.52	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	L	0.37800	1.135	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.76862	-0.2802	10	0.87932	D	0	-10.1232	15.1914	0.73047	1.0:0.0:0.0:0.0	.	261	Q9Y6K8	KAD5_HUMAN	R	261;235	ENSP00000346577:Q261R;ENSP00000341430:Q235R	ENSP00000341430:Q235R	Q	+	2	0	AK5	77578732	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.840000	0.92125	2.047000	0.60756	0.533000	0.62120	CAG		0.468	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		24	91	0	0	0	0	24	91				
PTBP2	58155	broad.mit.edu	37	1	97236288	97236288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:97236288G>A	ENST00000426398.2	+	5	356	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PTBP2_ENST00000609116.1_Missense_Mutation_p.E105K|PTBP2_ENST00000394184.3_Missense_Mutation_p.E116K|PTBP2_ENST00000370198.1_Missense_Mutation_p.E105K|PTBP2_ENST00000541987.1_Missense_Mutation_p.E74K|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.E105K	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	105	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGCAACCGAGGAAGCAGCTAT	0.313																																						uc001drq.2		NA																	0					0						c.(313-315)GAA>AAA		polypyrimidine tract binding protein 2							88.0	87.0	87.0					1																	97236288		2203	4298	6501	SO:0001583	missense	58155						nucleotide binding	g.chr1:97236288G>A	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.313G>A	1.37:g.97236288G>A	ENSP00000412788:p.Glu105Lys					PTBP2_uc001drn.2_Missense_Mutation_p.E105K|PTBP2_uc001dro.2_Missense_Mutation_p.E105K|PTBP2_uc010otz.1_Missense_Mutation_p.E116K|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.E53K|PTBP2_uc001drr.2_Missense_Mutation_p.E105K|PTBP2_uc010oua.1_Missense_Mutation_p.E113K|PTBP2_uc001dru.2_RNA|PTBP2_uc001drm.2_Missense_Mutation_p.E105K	p.E105K	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	5	559	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	105			RRM 1.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.313G>A	CCDS754.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312019	0.95655	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.80033	0.7;0.69;0.69;0.69;0.69;-1.33	5.22	5.22	0.72569	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.89012	0.6594	M	0.82323	2.585	0.80722	D	1	B;D;D;P;B;B;P	0.69078	0.385;0.997;0.996;0.455;0.334;0.272;0.933	B;D;D;P;B;B;P	0.77004	0.275;0.989;0.981;0.461;0.16;0.249;0.897	D	0.88671	0.3195	10	0.45353	T	0.12	-4.7594	18.7903	0.91971	0.0:0.0:1.0:0.0	.	113;116;105;105;105;105;127	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	K	105;105;105;105;116;74;95	ENSP00000236228:E105K;ENSP00000359217:E105K;ENSP00000359216:E105K;ENSP00000412788:E105K;ENSP00000377738:E116K;ENSP00000442475:E74K	ENSP00000236228:E105K	E	+	1	0	PTBP2	97008876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.750000	0.98875	2.430000	0.82344	0.655000	0.94253	GAA		0.313	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			21	55	0	0	0	0	21	55				
PHTF1	10745	broad.mit.edu	37	1	114267424	114267424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:114267424C>T	ENST00000369604.1	-	7	1063	c.580G>A	c.(580-582)Gta>Ata	p.V194I	PHTF1_ENST00000369600.1_Missense_Mutation_p.V141I|PHTF1_ENST00000393357.2_Missense_Mutation_p.V194I|PHTF1_ENST00000369596.2_Missense_Mutation_p.V141I|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000447664.2_Missense_Mutation_p.V194I|PHTF1_ENST00000357783.2_Missense_Mutation_p.V194I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	194					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATGGGTACAGATTCCAAA	0.353																																						uc009wgp.1		NA																	0				ovary(1)	1						c.(580-582)GTA>ATA		putative homeodomain transcription factor 1							86.0	89.0	88.0					1																	114267424		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114267424C>T	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.580G>A	1.37:g.114267424C>T	ENSP00000358617:p.Val194Ile					PHTF1_uc001edn.2_Missense_Mutation_p.V194I|PHTF1_uc010own.1_Missense_Mutation_p.V194I	p.V194I	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1032	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	194					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.580G>A	CCDS861.1	.	.	.	.	.	.	.	.	.	.	C	9.659	1.143718	0.21205	.	.	ENSG00000116793	ENST00000393357;ENST00000369596;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664	.	.	.	5.61	1.71	0.24356	.	0.720633	0.13348	N	0.394647	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B;B	0.16802	0.011;0.019	B;B	0.21151	0.005;0.033	T	0.42531	-0.9446	9	0.20519	T	0.43	3.3858	4.6057	0.12376	0.1432:0.5469:0.0:0.3099	.	194;194	Q9UMS5;Q9UMS5-2	PHTF1_HUMAN;.	I	194;141;141;194;194;194	.	ENSP00000350428:V194I	V	-	1	0	PHTF1	114068947	0.001000	0.12720	0.138000	0.22173	0.829000	0.46940	-0.404000	0.07205	0.342000	0.23796	-0.251000	0.11542	GTA		0.353	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		25	42	0	0	0	0	25	42				
WARS2	10352	broad.mit.edu	37	1	119683180	119683180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:119683180G>A	ENST00000235521.4	-	1	114	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	RP11-418J17.1_ENST00000413531.1_RNA|RP11-418J17.1_ENST00000425884.1_RNA|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000418015.1_RNA|RP11-418J17.1_ENST00000457043.1_RNA|RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000537870.1_5'Flank|WARS2_ENST00000369426.5_Nonsense_Mutation_p.Q30*	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	30					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTGGTTACCTGGAGAGCGGGA	0.597																																						uc001ehn.2		NA																	0					0						c.(88-90)CAG>TAG		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)						43.0	44.0	43.0					1																	119683180		2203	4300	6503	SO:0001587	stop_gained	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119683180G>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.88C>T	1.37:g.119683180G>A	ENSP00000235521:p.Gln30*					WARS2_uc010oxf.1_5'Flank|WARS2_uc001ehm.2_Nonsense_Mutation_p.Q30*|WARS2_uc010oxg.1_Nonsense_Mutation_p.Q30*|WARS2_uc010oxh.1_Nonsense_Mutation_p.Q30*|WARS2_uc010oxi.1_5'Flank|uc001ehp.1_RNA|uc001eho.1_RNA|uc009whk.1_RNA	p.Q30*	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	1	116	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	30					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Nonsense_Mutation	SNP	ENST00000235521.4	37	c.88C>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504639	0.64410	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	.	.	.	6.04	5.11	0.69529	.	0.335947	0.31772	N	0.007100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-19.3092	13.1357	0.59407	0.0:0.1603:0.8397:0.0	.	.	.	.	X	30	.	ENSP00000235521:Q30X	Q	-	1	0	WARS2	119484703	0.989000	0.36119	0.902000	0.35471	0.016000	0.09150	1.448000	0.35112	1.527000	0.49086	0.561000	0.74099	CAG		0.597	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		6	31	0	0	0	0	6	31				
OR6K2	81448	broad.mit.edu	37	1	158669807	158669807	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:158669807C>T	ENST00000359610.2	-	1	679	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGATGAGCATCACAGCTGTAA	0.498																																						uc001fsu.1		NA																	0				pancreas(1)	1						c.(634-636)GTG>GTA		olfactory receptor, family 6, subfamily K,							163.0	130.0	141.0					1																	158669807		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669807C>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.636G>A	1.37:g.158669807C>T							p.V212V	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	636	-	all_hematologic(112;0.0378)		212			Helical; Name=5; (Potential).		B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.636G>A	CCDS30902.1																																																																																				0.498	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		24	99	0	0	0	0	24	99				
LAMC1	3915	broad.mit.edu	37	1	183106849	183106849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:183106849G>A	ENST00000258341.4	+	26	4617	c.4360G>A	c.(4360-4362)Gtt>Att	p.V1454I	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1454	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TTTTGCAGAAGTTACAGATCT	0.383																																						uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(4360-4362)GTT>ATT		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						67.0	62.0	64.0					1																	183106849		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183106849G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4360G>A	1.37:g.183106849G>A	ENSP00000258341:p.Val1454Ile						p.V1454I	NM_002293	NP_002284	P11047	LAMC1_HUMAN			26	4617	+			1454			Potential.|Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4360G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357734	0.61403	.	.	ENSG00000135862	ENST00000258341	T	0.77229	-1.08	5.64	5.64	0.86602	.	0.108387	0.64402	D	0.000006	T	0.76884	0.4050	L	0.57536	1.79	0.44899	D	0.997918	B	0.29716	0.255	B	0.27262	0.078	T	0.75752	-0.3207	10	0.62326	D	0.03	.	19.7095	0.96089	0.0:0.0:1.0:0.0	.	1454	P11047	LAMC1_HUMAN	I	1454	ENSP00000258341:V1454I	ENSP00000258341:V1454I	V	+	1	0	LAMC1	181373472	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.774000	0.75012	2.647000	0.89833	0.655000	0.94253	GTT		0.383	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	39	0	0	0	0	8	39				
PTPRC	5788	broad.mit.edu	37	1	198665840	198665840	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr1:198665840G>A	ENST00000367376.2	+	4	265		c.e4-1		PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAATTAACAGGATTGACTAC	0.418																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.e4-1		protein tyrosine phosphatase, receptor type, C							117.0	118.0	118.0					1																	198665840		2203	4300	6503	SO:0001630	splice_region_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198665840G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.95-1G>A	1.37:g.198665840G>A						PTPRC_uc001gus.1_Splice_Site_p.G32_splice|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Splice_Site_p.R75_splice|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	p.G32_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN			4	275	+								A8K7W6|Q16614|Q9H0Y6	Splice_Site	SNP	ENST00000367376.2	37	c.95_splice		.	.	.	.	.	.	.	.	.	.	G	10.71	1.426825	0.25726	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000442510;ENST00000418674	.	.	.	5.63	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1914	0.25828	0.0865:0.0:0.7451:0.1684	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRC	196932463	0.999000	0.42202	0.319000	0.25293	0.046000	0.14306	4.346000	0.59367	0.722000	0.32252	0.655000	0.94253	.		0.418	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	32	83	0	0	0	0	32	83				
MBL2	4153	broad.mit.edu	37	10	54528241	54528241	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:54528241C>T	ENST00000373968.3	-	4	467	c.403G>A	c.(403-405)Ggg>Agg	p.G135R		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	135	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						AACTTGTTCCCAACTTGTTTG	0.453																																						uc001jjt.2		NA																	0				ovary(1)	1						c.(403-405)GGG>AGG		soluble mannose-binding lectin precursor							88.0	94.0	92.0					10																	54528241		2202	4300	6502	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54528241C>T	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.403G>A	10.37:g.54528241C>T	ENSP00000363079:p.Gly135Arg						p.G135R	NM_000242	NP_000233	P11226	MBL2_HUMAN			4	468	-			135			C-type lectin.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.403G>A	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446842	0.84101	.	.	ENSG00000165471	ENST00000373968	T	0.25749	1.78	4.82	4.82	0.62117	C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000012	T	0.41789	0.1174	M	0.85373	2.75	0.51767	D	0.999937	D	0.55605	0.972	P	0.46585	0.521	T	0.53549	-0.8423	10	0.62326	D	0.03	-18.903	16.2082	0.82142	0.0:1.0:0.0:0.0	.	135	P11226	MBL2_HUMAN	R	135	ENSP00000363079:G135R	ENSP00000363079:G135R	G	-	1	0	MBL2	54198247	0.999000	0.42202	0.812000	0.32479	0.198000	0.23893	4.476000	0.60216	2.580000	0.87095	0.655000	0.94253	GGG		0.453	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		18	103	0	0	0	0	18	103				
KAT6B	23522	broad.mit.edu	37	10	76788252	76788252	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:76788252A>G	ENST00000287239.4	+	18	4159	c.3670A>G	c.(3670-3672)Atg>Gtg	p.M1224V	KAT6B_ENST00000372714.1_Missense_Mutation_p.M932V|KAT6B_ENST00000372724.1_Missense_Mutation_p.M932V|KAT6B_ENST00000372725.1_Missense_Mutation_p.M932V|KAT6B_ENST00000372711.1_Missense_Mutation_p.M1041V	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1224					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTAAGACAATATGAATGATGA	0.373																																						uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(3670-3672)ATG>GTG		MYST histone acetyltransferase (monocytic							95.0	100.0	98.0					10																	76788252		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788252A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3670A>G	10.37:g.76788252A>G	ENSP00000287239:p.Met1224Val					MYST4_uc001jwo.1_Missense_Mutation_p.M932V|MYST4_uc001jwp.1_Missense_Mutation_p.M1041V	p.M1224V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	4163	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1224					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3670A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	9.280	1.047904	0.19827	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.74632	2.24;2.24;-0.86;2.24;-0.86	5.54	1.76	0.24704	.	0.679081	0.12832	N	0.435570	T	0.47893	0.1470	N	0.14661	0.345	0.23430	N	0.997698	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35773	-0.9775	10	0.02654	T	1	0.6241	4.7064	0.12851	0.6073:0.1535:0.2393:0.0	.	1041;932;1224	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	V	932;932;1224;932;1041	ENSP00000361810:M932V;ENSP00000361809:M932V;ENSP00000287239:M1224V;ENSP00000361799:M932V;ENSP00000361796:M1041V	ENSP00000287239:M1224V	M	+	1	0	KAT6B	76458258	0.005000	0.15991	0.994000	0.49952	0.983000	0.72400	0.117000	0.15583	0.411000	0.25702	0.402000	0.26972	ATG		0.373	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		16	116	0	0	0	0	16	116				
DUPD1	338599	broad.mit.edu	37	10	76797686	76797686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:76797686T>G	ENST00000338487.5	-	3	570	c.571A>C	c.(571-573)Aag>Cag	p.K191Q		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	191	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGAGCTGCTTCAAAAAGCCC	0.642																																						uc001jwq.1		NA																	0				ovary(2)	2						c.(571-573)AAG>CAG		dual specificity phosphatase and pro isomerase							55.0	54.0	54.0					10																	76797686		2203	4300	6503	SO:0001583	missense	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76797686T>G		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.571A>C	10.37:g.76797686T>G	ENSP00000340609:p.Lys191Gln						p.K191Q	NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN			3	571	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		191			Tyrosine-protein phosphatase.		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	c.571A>C	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075226	0.76415	.	.	ENSG00000188716	ENST00000338487	D	0.85955	-2.05	4.64	4.64	0.57946	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	L	0.33624	1.015	0.46521	D	0.999083	D	0.71674	0.998	D	0.64321	0.924	D	0.87590	0.2490	10	0.51188	T	0.08	-37.9855	14.2623	0.66092	0.0:0.0:0.0:1.0	.	191	Q68J44	DUPD1_HUMAN	Q	191	ENSP00000340609:K191Q	ENSP00000340609:K191Q	K	-	1	0	DUPD1	76467692	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.752000	0.68728	1.977000	0.57605	0.397000	0.26171	AAG		0.642	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		19	65	0	0	0	0	19	65				
C10orf12	26148	broad.mit.edu	37	10	98742212	98742212	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:98742212C>T	ENST00000286067.2	+	1	1172	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	355										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGTGTACCCCAGGACTGTC	0.522																																						uc001kmv.2		NA																	0				skin(2)	2						c.(1063-1065)CCC>CCT		hypothetical protein LOC26148							109.0	103.0	105.0					10																	98742212		2203	4300	6503	SO:0001819	synonymous_variant	26148							g.chr10:98742212C>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1065C>T	10.37:g.98742212C>T						C10orf12_uc009xvg.1_Silent_p.P665P	p.P355P	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	1172	+		Colorectal(252;0.172)	355					Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	c.1065C>T	CCDS7452.1																																																																																				0.522	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		37	80	0	0	0	0	37	80				
GFRA1	2674	broad.mit.edu	37	10	118030435	118030435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:118030435G>A	ENST00000355422.6	-	3	783	c.233C>T	c.(232-234)gCc>gTc	p.A78V	GFRA1_ENST00000369236.1_Missense_Mutation_p.A78V|GFRA1_ENST00000490345.1_5'Flank|GFRA1_ENST00000439649.3_Missense_Mutation_p.A78V	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	78					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGCTTCAGGGCCTCCATGGC	0.602																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(232-234)GCC>GTC		GDNF family receptor alpha 1 isoform a							74.0	71.0	72.0					10																	118030435		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118030435G>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.233C>T	10.37:g.118030435G>A	ENSP00000347591:p.Ala78Val					GFRA1_uc001lci.2_Missense_Mutation_p.A78V|GFRA1_uc009xyr.2_Missense_Mutation_p.A78V	p.A78V	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	3	931	-		Lung NSC(174;0.21)	78			1		A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.233C>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309712	0.60414	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.01	4.01	0.46588	GDNF/GAS1 (2);	0.059413	0.64402	D	0.000003	T	0.66426	0.2788	L	0.35593	1.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.65443	0.916;0.935	T	0.61272	-0.7096	10	0.15952	T	0.53	-16.318	16.3922	0.83543	0.0:0.0:1.0:0.0	.	78;78	P56159;P56159-2	GFRA1_HUMAN;.	V	78	ENSP00000393725:A78V;ENSP00000358239:A78V;ENSP00000347591:A78V;ENSP00000358237:A78V	ENSP00000347591:A78V	A	-	2	0	GFRA1	118020425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.949000	0.87791	2.081000	0.62600	0.549000	0.68633	GCC		0.602	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		13	34	0	0	0	0	13	34				
PDZD8	118987	broad.mit.edu	37	10	119043244	119043244	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:119043244C>A	ENST00000334464.5	-	5	3239	c.3000G>T	c.(2998-3000)aaG>aaT	p.K1000N	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1000					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTCTCACTAACTTTATTCCTG	0.478																																						uc001lde.1		NA																	0					0						c.(2998-3000)AAG>AAT		PDZ domain containing 8							220.0	223.0	222.0					10																	119043244		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043244C>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3000G>T	10.37:g.119043244C>A	ENSP00000334642:p.Lys1000Asn						p.K1000N	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3199	-		Colorectal(252;0.19)	1000					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.3000G>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580402	0.46006	.	.	ENSG00000165650	ENST00000334464	D	0.87491	-2.26	5.96	2.7	0.31948	.	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	L	0.29908	0.895	0.42686	D	0.993565	D	0.89917	1.0	D	0.85130	0.997	D	0.86835	0.2013	10	0.49607	T	0.09	-15.6063	10.9012	0.47054	0.0:0.6616:0.0:0.3384	.	1000	Q8NEN9	PDZD8_HUMAN	N	1000	ENSP00000334642:K1000N	ENSP00000334642:K1000N	K	-	3	2	PDZD8	119033234	0.972000	0.33761	1.000000	0.80357	0.998000	0.95712	0.186000	0.16978	0.861000	0.35504	0.655000	0.94253	AAG		0.478	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		88	167	1	0	2.93e-44	8.54e-44	88	167				
GRK5	2869	broad.mit.edu	37	10	121212266	121212266	+	Silent	SNP	C	C	T	rs368864312	byFrequency	TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr10:121212266C>T	ENST00000392870.2	+	14	1817	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	GRK5_ENST00000369108.3_Silent_p.D391D|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	496	AGC-kinase C-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACACAGACGACGACTTCTACT	0.597													C|||	2	0.000399361	0.0	0.0014	5008	,	,		13806	0.0		0.001	False		,,,				2504	0.0					uc001led.2		NA																	0				lung(2)|stomach(1)	3						c.(1486-1488)GAC>GAT		G protein-coupled receptor kinase 5		C		0,4406		0,0,2203	132.0	102.0	112.0		1488	-5.0	0.1	10		112	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRK5	NM_005308.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		496/591	121212266	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121212266C>T	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1488C>T	10.37:g.121212266C>T						GRK5_uc009xzh.2_Silent_p.D361D	p.D496D	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	14	1721	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	496			AGC-kinase C-terminal.		D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	c.1488C>T	CCDS7612.1																																																																																				0.597	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		9	25	0	0	0	0	9	25				
MUC5B	727897	broad.mit.edu	37	11	1272638	1272638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:1272638G>A	ENST00000529681.1	+	31	14586	c.14528G>A	c.(14527-14529)gGg>gAg	p.G4843E	MUC5B_ENST00000447027.1_Missense_Mutation_p.G4846E|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4843	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCACCCCAGGGACCACCTGG	0.637																																						uc009ycr.1		NA																	0					0						c.(15493-15495)GGG>GAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							119.0	141.0	134.0					11																	1272638		2147	4228	6375	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272638G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14528G>A	11.37:g.1272638G>A	ENSP00000436812:p.Gly4843Glu					MUC5B_uc001ltb.2_Missense_Mutation_p.G4846E	p.G5165E	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	52	15620	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4843			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15494G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	4.953	0.177023	0.09443	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15487	2.42;2.6	2.32	-3.12	0.05282	.	.	.	.	.	T	0.09468	0.0233	N	0.24115	0.695	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.09377	0.004;0.004	T	0.30268	-0.9984	9	0.87932	D	0	.	5.2678	0.15609	0.0:0.3496:0.2981:0.3523	.	5165;4846	A7Y9J9;E9PBJ0	.;.	E	4843;4846;4787;4542	ENSP00000436812:G4843E;ENSP00000415793:G4846E	ENSP00000343037:G4787E	G	+	2	0	MUC5B	1229214	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-3.146000	0.00584	-0.752000	0.04728	0.134000	0.15878	GGG		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		52	84	0	0	0	0	52	84				
TRIM51	84767	broad.mit.edu	37	11	55653067	55653067	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:55653067T>G	ENST00000449290.2	+	2	255	c.163T>G	c.(163-165)Tgc>Ggc	p.C55G	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	55						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTGCTCTGAATGCAAGAAGAC	0.507																																						uc010rip.1		NA																	0					0						c.(163-165)TGC>GGC		SPRY domain containing 5							46.0	38.0	40.0					11																	55653067		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653067T>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.163T>G	11.37:g.55653067T>G	ENSP00000395086:p.Cys55Gly					SPRYD5_uc010riq.1_5'Flank	p.C55G	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	255	+		all_epithelial(135;0.226)	55			RING-type.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.163T>G		.	.	.	.	.	.	.	.	.	.	.	12.16	1.854984	0.32791	.	.	ENSG00000124900	ENST00000449290	T	0.54479	0.57	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.77391	0.4123	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76208	-0.3043	9	0.87932	D	0	.	5.8508	0.18691	0.0:1.0E-4:0.0:0.9999	.	55	Q9BSJ1	SPRY5_HUMAN	G	55	ENSP00000395086:C55G	ENSP00000395086:C55G	C	+	1	0	SPRYD5	55409643	0.983000	0.35010	0.017000	0.16124	0.045000	0.14185	3.112000	0.50368	0.624000	0.30286	0.128000	0.15822	TGC		0.507	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		7	38	0	0	0	0	7	38				
PYGM	5837	broad.mit.edu	37	11	64519456	64519456	+	Missense_Mutation	SNP	G	G	A	rs377225525		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:64519456G>A	ENST00000164139.3	-	14	2106	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	PYGM_ENST00000377432.3_Missense_Mutation_p.R482W|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	570					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCGTGAATCCGCTTCACCTGG	0.512																																						uc001oax.3		NA																	0				ovary(2)	2	GRCh37	CM076447	PYGM	M		c.(1708-1710)CGG>TGG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)	G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	215.0	181.0	192.0		1444,1708	2.4	1.0	11		192	1,8593		0,1,4296	no	missense,missense	PYGM	NM_001164716.1,NM_005609.2	101,101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	482/755,570/843	64519456	1,12995	2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519456G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1708C>T	11.37:g.64519456G>A	ENSP00000164139:p.Arg570Trp					PYGM_uc001oay.3_Missense_Mutation_p.R482W	p.R570W	NM_005609	NP_005600	P11217	PYGM_HUMAN			14	2525	-			570					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1708C>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073843	0.76415	0.0	1.16E-4	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.98777	-3.95;-5.13	5.71	2.44	0.29823	.	0.113829	0.38217	N	0.001764	D	0.99444	0.9803	H	0.98918	4.37	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98003	1.0361	10	0.87932	D	0	-27.3256	12.1431	0.54008	0.0:0.0:0.4898:0.5102	.	482;570	A6NDY6;P11217	.;PYGM_HUMAN	W	482;570;551	ENSP00000366650:R482W;ENSP00000164139:R570W	ENSP00000164139:R570W	R	-	1	2	PYGM	64276032	0.960000	0.32886	1.000000	0.80357	0.997000	0.91878	0.153000	0.16323	1.356000	0.45884	0.561000	0.74099	CGG		0.512	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		15	81	0	0	0	0	15	81				
CLCF1	23529	broad.mit.edu	37	11	67134940	67134940	+	Silent	SNP	A	A	T	rs541825951		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:67134940A>T	ENST00000312438.7	-	2	371	c.174T>A	c.(172-174)gcT>gcA	p.A58A	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Silent_p.A48A|CLCF1_ENST00000528474.1_Silent_p.A48A	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	58					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CATAGGTCCCAGCCAAGCTGC	0.577																																						uc001okq.2		NA																	0					0						c.(172-174)GCT>GCA		cardiotrophin-like cytokine factor 1 precursor							134.0	121.0	125.0					11																	67134940		2200	4295	6495	SO:0001819	synonymous_variant	23529				B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr11:67134940A>T	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.174T>A	11.37:g.67134940A>T						LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Silent_p.A48A	p.A58A	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.39e-06)		2	370	-			58					B4DNT4|Q6NZA4	Silent	SNP	ENST00000312438.7	37	c.174T>A	CCDS31617.1																																																																																				0.577	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246		38	68	0	0	0	0	38	68				
MMP20	9313	broad.mit.edu	37	11	102480739	102480739	+	Silent	SNP	G	G	A	rs148659857		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:102480739G>A	ENST00000260228.2	-	4	558	c.546C>T	c.(544-546)ttC>ttT	p.F182F	RP11-817J15.2_ENST00000544115.1_RNA|MMP20_ENST00000544938.1_5'Flank|RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	185					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)			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)	GAGGCCCATCGAATGGATAGG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		16953	0.0		0.001	False		,,,				2504	0.0					uc001phc.2		NA																	0				urinary_tract(1)|skin(1)	2						c.(544-546)TTC>TTT		matrix metalloproteinase 20 preproprotein		G		1,4405	2.1+/-5.4	0,1,2202	72.0	65.0	68.0		546	-3.4	1.0	11	dbSNP_134	68	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	MMP20	NM_004771.3		0,4,6498	AA,AG,GG		0.0349,0.0227,0.0308		182/484	102480739	4,13000	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.chr11:102480739G>A	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.546C>T	11.37:g.102480739G>A							p.F182F	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)	4	559	-	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)	182					D3DUA8|Q9H3Q0	Silent	SNP	ENST00000260228.2	37	c.546C>T	CCDS8318.1																																																																																				0.498	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			8	40	0	0	0	0	8	40				
PCSK7	9159	broad.mit.edu	37	11	117095455	117095455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:117095455C>T	ENST00000320934.3	-	7	1507	c.877G>A	c.(877-879)Gat>Aat	p.D293N	PCSK7_ENST00000540028.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	293	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCTTCCCATCGTCATCTGGT	0.577			T	IGH@	MLCLS																																	uc001pqr.2		NA		Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0					0						c.(877-879)GAT>AAT		proprotein convertase subtilisin/kexin type 7							191.0	184.0	187.0					11																	117095455		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117095455C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.877G>A	11.37:g.117095455C>T	ENSP00000325917:p.Asp293Asn						p.D293N	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	7	1078	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	293			Catalytic.|Extracellular (Potential).		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.877G>A	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	37	6.182857	0.97357	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;T	0.81499	-1.5;0.91	5.7	5.7	0.88788	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	L	0.47016	1.485	0.80722	D	1	D	0.69078	0.997	P	0.59889	0.865	D	0.85729	0.1330	10	0.56958	D	0.05	-23.5486	18.836	0.92162	0.0:1.0:0.0:0.0	.	293	Q16549	PCSK7_HUMAN	N	293	ENSP00000325917:D293N;ENSP00000431181:D293N	ENSP00000325917:D293N	D	-	1	0	PCSK7	116600665	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.629000	0.83207	2.698000	0.92095	0.655000	0.94253	GAT		0.577	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		50	191	0	0	0	0	50	191				
DSCAML1	57453	broad.mit.edu	37	11	117303096	117303096	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:117303096G>A	ENST00000321322.6	-	30	5332	c.5331C>T	c.(5329-5331)atC>atT	p.I1777I	DSCAML1_ENST00000527706.1_Silent_p.I1507I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1717					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGACATGTCGATGAGGGGTC	0.572																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5329-5331)ATC>ATT		Down syndrome cell adhesion molecule like 1							161.0	110.0	128.0					11																	117303096		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117303096G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5331C>T	11.37:g.117303096G>A							p.I1777I	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	30	5333	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1717			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.5331C>T	CCDS8384.1																																																																																				0.572	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	42	0	0	0	0	6	42				
TBCEL	219899	broad.mit.edu	37	11	120925792	120925792	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:120925792T>C	ENST00000529397.1	+	5	587	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TBCEL_ENST00000422003.2_Missense_Mutation_p.Y163H	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	163						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CCTTAATGACTATGAAACAGT	0.348																																						uc009zay.2		NA																	0				skin(1)	1						c.(487-489)TAT>CAT		tubulin folding cofactor E-like							147.0	132.0	137.0					11																	120925792		2203	4299	6502	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120925792T>C	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.487T>C	11.37:g.120925792T>C	ENSP00000437184:p.Tyr163His					TBCEL_uc001pxo.2_Missense_Mutation_p.Y163H|TBCEL_uc001pxp.2_Missense_Mutation_p.Y19H|TBCEL_uc001pxq.2_Intron	p.Y163H	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	5	565	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	163			LRR 4.		Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.487T>C	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681327	0.88542	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000524726	T;T;T	0.18174	2.23;2.23;2.23	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.73217	2.22	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	T	0.31724	-0.9933	10	0.66056	D	0.02	-31.568	16.1564	0.81670	0.0:0.0:0.0:1.0	.	163	Q5QJ74	TBCEL_HUMAN	H	163	ENSP00000437184:Y163H;ENSP00000403925:Y163H;ENSP00000432783:Y163H	ENSP00000403925:Y163H	Y	+	1	0	TBCEL	120431002	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.037000	0.88933	2.228000	0.72767	0.477000	0.44152	TAT		0.348	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		10	46	0	0	0	0	10	46				
NRGN	4900	broad.mit.edu	37	11	124615418	124615418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr11:124615418C>T	ENST00000284292.6	+	2	274	c.35C>T	c.(34-36)cCg>cTg	p.P12L	RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.2_Missense_Mutation_p.P12L	NM_001126181.1|NM_006176.2	NP_001119653.1|NP_006167.1	Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	12					nervous system development (GO:0007399)|signal transduction (GO:0007165)		calmodulin binding (GO:0005516)					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGCTCCAAGCCGGACGACGAC	0.647																																						uc001qaq.2		NA																	0					0						c.(34-36)CCG>CTG		neurogranin							38.0	31.0	33.0					11																	124615418		2195	4288	6483	SO:0001583	missense	4900				nervous system development|signal transduction		calmodulin binding	g.chr11:124615418C>T	X99075, X99076	CCDS8451.1	11q24	2008-02-01			ENSG00000154146	ENSG00000154146			8000	protein-coding gene	gene with protein product		602350				9143500	Standard	NM_006176		Approved	RC3	uc001qar.2	Q92686	OTTHUMG00000165928	ENST00000284292.6:c.35C>T	11.37:g.124615418C>T	ENSP00000284292:p.Pro12Leu					NRGN_uc001qar.2_Missense_Mutation_p.P12L	p.P12L	NM_006176	NP_006167	Q92686	NEUG_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	2	187	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	12						Missense_Mutation	SNP	ENST00000284292.6	37	c.35C>T	CCDS8451.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986472	0.35036	.	.	ENSG00000154146	ENST00000412681;ENST00000284292;ENST00000526916	.	.	.	5.56	4.65	0.58169	.	0.121567	0.56097	N	0.000027	T	0.45296	0.1335	.	.	.	0.49299	D	0.999778	B	0.15930	0.015	B	0.06405	0.002	T	0.34054	-0.9844	8	0.34782	T	0.22	-10.5545	10.1198	0.42614	0.0:0.8389:0.0:0.1611	.	12	Q92686	NEUG_HUMAN	L	12	.	ENSP00000284292:P12L	P	+	2	0	NRGN	124120628	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	3.127000	0.50484	1.352000	0.45808	0.555000	0.69702	CCG		0.647	NRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387079.3	NM_006176		9	56	0	0	0	0	9	56				
MGP	4256	broad.mit.edu	37	12	15035958	15035958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:15035958C>T	ENST00000539261.1	-	3	252	c.118G>A	c.(118-120)Gca>Aca	p.A40T	MGP_ENST00000228938.5_Missense_Mutation_p.A65T|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	40					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						AAGGTATTTGCATTTCTCCTG	0.383																																						uc001rcn.1		NA																	0				ovary(1)	1						c.(118-120)GCA>ACA		matrix Gla protein precursor							135.0	114.0	121.0					12																	15035958		2203	4300	6503	SO:0001583	missense	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15035958C>T	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.118G>A	12.37:g.15035958C>T	ENSP00000445907:p.Ala40Thr						p.A40T	NM_000900	NP_000891	P08493	MGP_HUMAN			3	221	-			40					A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Missense_Mutation	SNP	ENST00000539261.1	37	c.118G>A	CCDS8669.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436621	0.62955	.	.	ENSG00000111341	ENST00000539261;ENST00000228938	T;T	0.44881	1.0;0.91	5.48	5.48	0.80851	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.83223	2.63	0.52501	D	0.999959	D	0.89917	1.0	D	0.83275	0.996	T	0.70857	-0.4758	10	0.87932	D	0	-7.4825	14.7277	0.69357	0.0:1.0:0.0:0.0	.	40	P08493	MGP_HUMAN	T	40;65	ENSP00000445907:A40T;ENSP00000228938:A65T	ENSP00000228938:A65T	A	-	1	0	MGP	14927225	0.989000	0.36119	0.797000	0.32132	0.109000	0.19521	4.151000	0.58105	2.850000	0.98022	0.655000	0.94253	GCA		0.383	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		11	32	0	0	0	0	11	32				
PDE3A	5139	broad.mit.edu	37	12	20782996	20782996	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:20782996A>T	ENST00000359062.3	+	6	1735	c.1695A>T	c.(1693-1695)ttA>ttT	p.L565F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	565					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ACAGGGCCTTAACTTACACTC	0.453																																						uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1693-1695)TTA>TTT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						149.0	149.0	149.0					12																	20782996		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20782996A>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1695A>T	12.37:g.20782996A>T	ENSP00000351957:p.Leu565Phe						p.L565F	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			6	1717	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	565					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1695A>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250643	0.39797	.	.	ENSG00000172572	ENST00000359062	T	0.54866	0.55	5.44	4.19	0.49359	.	2.922490	0.00861	N	0.001931	T	0.51787	0.1695	L	0.52126	1.63	0.45867	D	0.998721	B	0.22851	0.076	B	0.19148	0.024	T	0.17501	-1.0367	10	0.39692	T	0.17	.	9.2951	0.37811	0.8948:0.0:0.1052:0.0	.	565	Q14432	PDE3A_HUMAN	F	565	ENSP00000351957:L565F	ENSP00000351957:L565F	L	+	3	2	PDE3A	20674263	1.000000	0.71417	0.960000	0.40013	0.622000	0.37654	2.304000	0.43655	0.948000	0.37687	0.528000	0.53228	TTA		0.453	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			77	121	0	0	0	0	77	121				
NUP107	57122	broad.mit.edu	37	12	69083344	69083344	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:69083344T>C	ENST00000229179.4	+	3	464	c.132T>C	c.(130-132)aaT>aaC	p.N44N	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.I6T|RP11-637A17.2_ENST00000500695.2_lincRNA	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	44					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)			ATTTTGGTAATACTACACCAA	0.328																																						uc001suf.2		NA																	0				skin(1)	1						c.(130-132)AAT>AAC		nucleoporin 107kDa							118.0	116.0	117.0					12																	69083344		2203	4300	6503	SO:0001819	synonymous_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.chr12:69083344T>C	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.132T>C	12.37:g.69083344T>C						uc001sud.1_5'Flank|uc001sue.1_5'Flank|NUP107_uc001sug.2_5'UTR|NUP107_uc010stj.1_Missense_Mutation_p.I6T	p.N44N	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		3	247	+	Breast(13;6.25e-06)		44					B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	c.132T>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	T	9.842	1.191195	0.21954	.	.	ENSG00000111581	ENST00000539906	.	.	.	5.61	-0.888	0.10583	.	.	.	.	.	T	0.24160	0.0585	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.23868	-1.0176	6	.	.	.	-17.6581	9.0877	0.36592	0.0:0.3679:0.0:0.6321	.	6	B4DZ67	.	T	6	.	.	I	+	2	0	NUP107	67369611	0.000000	0.05858	0.014000	0.15608	0.420000	0.31355	0.071000	0.14594	-0.291000	0.09012	0.533000	0.62120	ATA		0.328	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		16	48	0	0	0	0	16	48				
ANO4	121601	broad.mit.edu	37	12	101295618	101295618	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:101295618G>A	ENST00000392977.3	+	2	265	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ANO4_ENST00000392979.3_Splice_Site_p.V19M|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Splice_Site_p.E185K			Q32M45	ANO4_HUMAN	anoctamin 4	19					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTTCCACCCAGGTGATGCATG	0.443										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(55-57)GAA>AAA		anoctamin 4							85.0	84.0	84.0					12																	101295618		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101295618G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.55+1G>A	12.37:g.101295618G>A		HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.V19M|ANO4_uc001thx.2_Missense_Mutation_p.E19K	p.E19K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			2	627	+			19			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.55G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.025803|5.025803	0.93518|0.93518	.|.	.|.	ENSG00000151572|ENSG00000151572	ENST00000538618;ENST00000392977|ENST00000392979	T;T|T	0.76060|0.43294	-0.99;-0.4|0.95	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.563867	.|0.17673	.|N	.|0.165919	T|T	0.40979|0.40979	0.1139|0.1139	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|P	0.34587|0.42620	0.458|0.785	P|B	0.51742|0.41764	0.678|0.366	T|T	0.11690|0.11690	-1.0577|-1.0577	8|9	0.37606|0.23302	T|T	0.19|0.38	.|.	19.6696|19.6696	0.95907|0.95907	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19|19	Q32M45|Q32M45-2	ANO4_HUMAN|.	K|M	185;19|19	ENSP00000443751:E185K;ENSP00000376703:E19K|ENSP00000376705:V19M	ENSP00000376703:E19K|ENSP00000376705:V19M	E|V	+|+	1|1	0|0	ANO4|ANO4	99819749|99819749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	6.778000|6.778000	0.75043|0.75043	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	GAA|GTG		0.443	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Missense_Mutation	29	69	0	0	0	0	29	69				
PTPN11	5781	broad.mit.edu	37	12	112940025	112940025	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:112940025T>C	ENST00000351677.2	+	14	1875	c.1677T>C	c.(1675-1677)ccT>ccC	p.P559P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	563					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATCAGAGCCCTCTCCCGCCTT	0.428			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.2		NA		Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		0				haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						c.(1675-1677)CCT>CCC		protein tyrosine phosphatase, non-receptor type							101.0	104.0	103.0					12																	112940025		2203	4300	6503	SO:0001819	synonymous_variant	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112940025T>C	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1677T>C	12.37:g.112940025T>C							p.P559P	NM_002834	NP_002825	Q06124	PTN11_HUMAN			14	2057	+			563					A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	c.1677T>C	CCDS9163.1																																																																																				0.428	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			5	162	0	0	0	0	5	162				
DTX1	1840	broad.mit.edu	37	12	113496166	113496166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:113496166C>T	ENST00000257600.3	+	1	672	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	57	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAGGACGCTCGCGGTTCCGT	0.642																																						uc001tuk.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(169-171)CGC>TGC		deltex homolog 1							125.0	110.0	115.0					12																	113496166		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496166C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.169C>T	12.37:g.113496166C>T	ENSP00000257600:p.Arg57Cys						p.R57C	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			1	505	+			57			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.169C>T	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324439	0.81580	.	.	ENSG00000135144	ENST00000257600	T	0.47177	0.85	3.9	2.95	0.34219	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	U	0.000002	T	0.66096	0.2755	M	0.77820	2.39	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.69687	-0.5078	10	0.54805	T	0.06	-11.8801	11.8152	0.52207	0.1752:0.8248:0.0:0.0	.	57	Q86Y01	DTX1_HUMAN	C	57	ENSP00000257600:R57C	ENSP00000257600:R57C	R	+	1	0	DTX1	111980549	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	1.904000	0.39868	2.021000	0.59480	0.555000	0.69702	CGC		0.642	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			26	101	0	0	0	0	26	101				
SYNE2	23224	broad.mit.edu	37	14	64522880	64522880	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr14:64522880C>T	ENST00000344113.4	+	49	10175	c.9963C>T	c.(9961-9963)tcC>tcT	p.S3321S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S3354S|SYNE2_ENST00000358025.3_Silent_p.S3321S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3321					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATGATATCCAGCCCCGAAG	0.433																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(9961-9963)TCC>TCT		spectrin repeat containing, nuclear envelope 2							71.0	65.0	67.0					14																	64522880		1908	4124	6032	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64522880C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9963C>T	14.37:g.64522880C>T						SYNE2_uc001xgl.2_Silent_p.S3321S|SYNE2_uc010apw.1_Silent_p.S27S	p.S3321S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	49	10193	+			3321			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.9963C>T	CCDS41963.1																																																																																				0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	31	0	0	0	0	8	31				
TJP1	7082	broad.mit.edu	37	15	30008972	30008972	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr15:30008972C>T	ENST00000346128.6	-	23	4519	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	TJP1_ENST00000545208.2_Missense_Mutation_p.E1269K|TJP1_ENST00000400011.2_Missense_Mutation_p.E1273K|TJP1_ENST00000356107.6_Missense_Mutation_p.E1349K	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1349					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCATCTTCTTCAGGGTCATAA	0.428																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(4045-4047)GAA>AAA		tight junction protein 1 isoform a							127.0	118.0	121.0					15																	30008972		1872	4107	5979	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30008972C>T		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4045G>A	15.37:g.30008972C>T	ENSP00000281537:p.Glu1349Lys					TJP1_uc010azl.2_Missense_Mutation_p.E1337K|TJP1_uc001zcq.2_Missense_Mutation_p.E1273K|TJP1_uc001zcs.2_Missense_Mutation_p.E1269K	p.E1349K	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	23	4520	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1349					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4045G>A	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624417	0.96660	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.51817	0.69;0.69	5.97	5.97	0.96955	.	0.052959	0.85682	D	0.000000	T	0.58850	0.2151	M	0.65975	2.015	0.80722	D	1	P;P;P;P	0.52061	0.862;0.95;0.862;0.925	B;P;B;P	0.48334	0.37;0.574;0.37;0.54	T	0.61720	-0.7005	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1342;1269;1349;1273	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	K	1349;1273;1349;1269;1269	ENSP00000281537:E1349K;ENSP00000382890:E1273K	ENSP00000281537:E1349K	E	-	1	0	TJP1	27796264	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	5.779000	0.68948	2.836000	0.97738	0.655000	0.94253	GAA		0.428	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		9	46	0	0	0	0	9	46				
UBR1	197131	broad.mit.edu	37	15	43360173	43360173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr15:43360173C>T	ENST00000290650.4	-	6	799	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	UBR1_ENST00000382177.2_Missense_Mutation_p.V241I	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	241					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTGTATATGACGTGGTCATAT	0.388																																						uc001zqq.2		NA																	0				lung(1)	1						c.(721-723)GTC>ATC		ubiquitin protein ligase E3 component n-recognin							129.0	120.0	123.0					15																	43360173		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43360173C>T		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.721G>A	15.37:g.43360173C>T	ENSP00000290650:p.Val241Ile					UBR1_uc010udk.1_Missense_Mutation_p.V241I	p.V241I	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	6	787	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	241					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.721G>A	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860476	0.91433	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.78924	-0.42;-1.22	5.73	5.73	0.89815	Adaptor protein ClpS, core (1);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	0.064043	0.64402	D	0.000007	D	0.88735	0.6517	M	0.86953	2.85	0.53688	D	0.99997	D;D	0.89917	1.0;0.999	D;P	0.69824	0.966;0.739	D	0.89062	0.3463	10	0.48119	T	0.1	-2.8089	14.6968	0.69129	0.145:0.855:0.0:0.0	.	241;241	B4DYL2;Q8IWV7	.;UBR1_HUMAN	I	241	ENSP00000290650:V241I;ENSP00000371612:V241I	ENSP00000290650:V241I	V	-	1	0	UBR1	41147465	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.407000	0.66363	2.688000	0.91661	0.650000	0.86243	GTC		0.388	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		11	83	0	0	0	0	11	83				
NHLRC4	283948	broad.mit.edu	37	16	618123	618123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:618123G>A	ENST00000424439.2	+	2	733	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NHLRC4_ENST00000540585.1_Missense_Mutation_p.D26N|PIGQ_ENST00000026218.5_5'Flank|PIGQ_ENST00000409527.2_Intron|PIGQ_ENST00000470411.2_5'Flank|PIGQ_ENST00000321878.5_5'Flank			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	26																	GGAGTTTGGGGATGTGAGGCT	0.687																																						uc002chl.2		NA																	0					0						c.(76-78)GAT>AAT		hypothetical protein LOC283948							31.0	37.0	35.0					16																	618123		1949	4130	6079	SO:0001583	missense	283948							g.chr16:618123G>A		CCDS45366.1	16p13.3	2013-03-28			ENSG00000257108	ENSG00000257108			26700	protein-coding gene	gene with protein product						12477932	Standard	NM_001301159		Approved		uc002chl.3	P0CG21	OTTHUMG00000047857	ENST00000424439.2:c.76G>A	16.37:g.618123G>A	ENSP00000410858:p.Asp26Asn					PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_5'Flank|PIGQ_uc002chn.2_5'Flank|PIGQ_uc002cho.2_5'Flank	p.D26N	NM_176677	NP_788850	P0CG21	NHLC4_HUMAN			2	672	+			26					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000424439.2	37	c.76G>A	CCDS45366.1	.	.	.	.	.	.	.	.	.	.	g	11.57	1.678086	0.29783	.	.	ENSG00000257108	ENST00000424439;ENST00000540585	D;D	0.89552	-2.53;-2.53	4.44	2.39	0.29439	Six-bladed beta-propeller, TolB-like (1);	0.192639	0.24954	U	0.034277	T	0.80607	0.4655	L	0.34521	1.04	0.21105	N	0.999786	B	0.12013	0.005	B	0.12156	0.007	T	0.63902	-0.6532	9	.	.	.	.	9.0251	0.36224	0.0838:0.1477:0.7685:0.0	.	26	P0CG21	NHLC4_HUMAN	N	26	ENSP00000410858:D26N;ENSP00000442223:D26N	.	D	+	1	0	NHLRC4	558124	1.000000	0.71417	0.162000	0.22713	0.002000	0.02628	2.995000	0.49441	0.297000	0.22615	-0.181000	0.13052	GAT		0.687	NHLRC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397724.1	NM_176677		6	14	0	0	0	0	6	14				
SMG1	23049	broad.mit.edu	37	16	18828771	18828771	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:18828771T>C	ENST00000446231.2	-	57	10328	c.9916A>G	c.(9916-9918)Atc>Gtc	p.I3306V	SMG1_ENST00000389467.3_Missense_Mutation_p.I3307V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3306					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAATGAATGATATTGCTGCAG	0.413																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(9916-9918)ATC>GTC		PI-3-kinase-related kinase SMG-1							55.0	49.0	51.0					16																	18828771		1875	4096	5971	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18828771T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9916A>G	16.37:g.18828771T>C	ENSP00000402515:p.Ile3306Val					SMG1_uc010bwb.2_Missense_Mutation_p.I3166V|SMG1_uc010bwa.2_Missense_Mutation_p.I2037V	p.I3306V	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			57	10279	-			3306					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.9916A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082973	0.55861	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01165	5.24;5.24	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000004	T	0.01222	0.0040	N	0.14661	0.345	0.34088	D	0.660399	B	0.17852	0.024	B	0.15870	0.014	T	0.56780	-0.7922	10	0.44086	T	0.13	.	16.358	0.83243	0.0:0.0:0.0:1.0	.	3306	Q96Q15	SMG1_HUMAN	V	3306;3307	ENSP00000402515:I3306V;ENSP00000374118:I3307V	ENSP00000374118:I3307V	I	-	1	0	SMG1	18736272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.597000	0.61062	2.260000	0.74910	0.528000	0.53228	ATC		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		2	8	0	0	0	0	2	8				
GTF3C1	2975	broad.mit.edu	37	16	27544670	27544670	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr16:27544670A>T	ENST00000356183.4	-	5	806	c.791T>A	c.(790-792)gTc>gAc	p.V264D	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	264					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(790-792)GTC>GAC		general transcription factor IIIC, polypeptide							145.0	121.0	129.0					16																	27544670		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27544670A>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.791T>A	16.37:g.27544670A>T	ENSP00000348510:p.Val264Asp					GTF3C1_uc002dou.2_Missense_Mutation_p.V264D	p.V264D	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			5	831	-			264					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.791T>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	0.092	-1.166133	0.01673	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.20069	2.1	5.96	-11.9	0.00025	.	1.695590	0.02579	N	0.098692	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B;B	0.26195	0.144;0.118	B;B	0.28709	0.048;0.093	T	0.05920	-1.0856	10	0.09590	T	0.72	-5.97	8.849	0.35188	0.1543:0.4243:0.3569:0.0645	.	264;264	Q12789;Q12789-3	TF3C1_HUMAN;.	D	264;262	ENSP00000348510:V264D	ENSP00000348510:V264D	V	-	2	0	GTF3C1	27452171	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.881000	0.04179	-3.097000	0.00245	-1.981000	0.00455	GTC		0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		21	54	0	0	0	0	21	54				
NUP88	4927	broad.mit.edu	37	17	5290067	5290067	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:5290067G>A	ENST00000573584.1	-	16	2632	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	708					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCGCTGGTAGGCACTGAGAAT	0.368																																						uc002gbo.1		NA																	0				kidney(1)	1						c.(2122-2124)GCC>GTC		nucleoporin 88kDa							193.0	173.0	180.0					17																	5290067		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5290067G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.2123C>T	17.37:g.5290067G>A	ENSP00000458954:p.Ala708Val					NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.A724V	p.A708V	NM_002532	NP_002523	Q99567	NUP88_HUMAN			16	2149	-			708					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.2123C>T	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683533	0.68157	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.67	4.67	0.58626	.	0.060260	0.64402	D	0.000004	T	0.67202	0.2868	L	0.57536	1.79	0.48341	D	0.999638	B;D	0.69078	0.446;0.997	B;D	0.63113	0.13;0.911	T	0.63453	-0.6634	9	0.30854	T	0.27	-13.8515	12.2682	0.54691	0.0:0.0:0.8306:0.1694	.	593;708	B4DP20;Q99567	.;NUP88_HUMAN	V	708;593	.	ENSP00000225696:A708V	A	-	2	0	NUP88	5230791	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.726000	0.61986	2.604000	0.88044	0.557000	0.71058	GCC		0.368	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		32	46	0	0	0	0	32	46				
TP53	7157	broad.mit.edu	37	17	7579378	7579378	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:7579378G>C	ENST00000269305.4	-	4	498	c.309C>G	c.(307-309)taC>taG	p.Y103*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCTGCCCTGGTAGGTTTTCT	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		33	Deletion - Frameshift(11)|Substitution - Nonsense(10)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(7)|p.G59fs*23(3)|p.Y103*(2)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	lung(6)|large_intestine(4)|bone(4)|upper_aerodigestive_tract(3)|breast(3)|skin(3)|ovary(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM073388	TP53	M		c.(307-309)TAC>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	54.0	54.0					17																	7579378		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579378G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.309C>G	17.37:g.7579378G>C	ENSP00000269305:p.Tyr103*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Y103*|TP53_uc002gih.2_Nonsense_Mutation_p.Y103*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Y103*|TP53_uc010cni.1_Nonsense_Mutation_p.Y103*|TP53_uc002gij.2_Nonsense_Mutation_p.Y103*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Y64*|TP53_uc010cnk.1_Nonsense_Mutation_p.Y118*	p.Y103*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	503	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	103			Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.309C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653026	0.67472	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	2.77	0.32553	.	0.191050	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7581	8.9354	0.35697	0.1877:0.0:0.8123:0.0	.	.	.	.	X	103	.	ENSP00000269305:Y103X	Y	-	3	2	TP53	7520103	1.000000	0.71417	0.665000	0.29768	0.394000	0.30568	4.673000	0.61604	1.366000	0.46076	0.655000	0.94253	TAC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	46	0	0	0	0	28	46				
CHD3	1107	broad.mit.edu	37	17	7802768	7802768	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:7802768G>A	ENST00000330494.7	+	15	2601	c.2451G>A	c.(2449-2451)acG>acA	p.T817T	CHD3_ENST00000380358.4_Silent_p.T876T|CHD3_ENST00000358181.4_Silent_p.T817T	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	817	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGACATACACGGGTGACAAGG	0.498																																						uc002gje.2		NA																	0				breast(1)	1						c.(2449-2451)ACG>ACA		chromodomain helicase DNA binding protein 3							144.0	140.0	142.0					17																	7802768		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7802768G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2451G>A	17.37:g.7802768G>A						CHD3_uc002gjd.2_Silent_p.T876T|CHD3_uc002gjf.2_Silent_p.T817T	p.T817T	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			15	2601	+		Prostate(122;0.202)	817			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.2451G>A	CCDS32554.1																																																																																				0.498	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		43	78	0	0	0	0	43	78				
MYH10	4628	broad.mit.edu	37	17	8398540	8398540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:8398540G>A	ENST00000269243.4	-	29	4016	c.3878C>T	c.(3877-3879)tCc>tTc	p.S1293F	MYH10_ENST00000379980.4_Missense_Mutation_p.S1309F|MYH10_ENST00000360416.3_Missense_Mutation_p.S1324F|MYH10_ENST00000396239.1_Missense_Mutation_p.S1314F	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1293					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAGAAGGGTGGAGACATTATC	0.413																																						uc002gll.2		NA																	0				ovary(2)	2						c.(3877-3879)TCC>TTC		myosin, heavy polypeptide 10, non-muscle							111.0	107.0	108.0					17																	8398540		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8398540G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3878C>T	17.37:g.8398540G>A	ENSP00000269243:p.Ser1293Phe					MYH10_uc002glm.2_Missense_Mutation_p.S1324F|MYH10_uc010cnx.2_Missense_Mutation_p.S1302F	p.S1293F	NM_005964	NP_005955	P35580	MYH10_HUMAN			29	3974	-			1293			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.3878C>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831902	0.50845	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.88	4.88	0.63580	Myosin tail (1);	0.129280	0.53938	D	0.000047	D	0.87245	0.6129	M	0.84773	2.715	0.53688	D	0.999972	B;B;B	0.33694	0.421;0.368;0.421	B;B;B	0.38562	0.276;0.266;0.276	D	0.88742	0.3244	10	0.87932	D	0	.	18.5819	0.91174	0.0:0.0:1.0:0.0	.	1302;1324;1293	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	F	1293;1324;1314;1309	ENSP00000269243:S1293F;ENSP00000353590:S1324F;ENSP00000379539:S1314F;ENSP00000369315:S1309F	ENSP00000269243:S1293F	S	-	2	0	MYH10	8339265	0.994000	0.37717	0.975000	0.42487	0.993000	0.82548	4.125000	0.57931	2.688000	0.91661	0.655000	0.94253	TCC		0.413	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			11	22	0	0	0	0	11	22				
GAS2L2	246176	broad.mit.edu	37	17	34077293	34077293	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:34077293C>A	ENST00000254466.6	-	2	457	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.V144L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	144	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGTTCTTCACGTTCTTGCGC	0.642																																						uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(430-432)GTG>TTG		growth arrest-specific 2 like 2							136.0	141.0	139.0					17																	34077293		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077293C>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.430G>T	17.37:g.34077293C>A	ENSP00000254466:p.Val144Leu						p.V144L	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	458	-		Ovarian(249;0.17)	144			CH.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.430G>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940660	0.52972	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	D	0.94723	-3.5	5.24	4.28	0.50868	Calponin homology domain (5);	0.434202	0.20369	N	0.093696	D	0.91168	0.7218	N	0.10874	0.06	0.39518	D	0.968478	D	0.58970	0.984	P	0.54759	0.76	D	0.90043	0.4143	10	0.30854	T	0.27	-5.2564	12.9427	0.58354	0.0:0.9216:0.0:0.0784	.	144	Q8NHY3	GA2L2_HUMAN	L	144	ENSP00000254466:V144L	ENSP00000254466:V144L	V	-	1	0	GAS2L2	31101406	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.336000	0.79245	1.206000	0.43276	-0.140000	0.14226	GTG		0.642	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		34	235	1	0	6.29e-14	1.8e-13	34	235				
KRT39	390792	broad.mit.edu	37	17	39118751	39118751	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:39118751G>A	ENST00000355612.2	-	4	808	c.773C>T	c.(772-774)tCt>tTt	p.S258F	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	258	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TAGGTCAGCAGAAGGGGCAGC	0.448																																						uc002hvo.1		NA																	0					0						c.(772-774)TCT>TTT		type I hair keratin KA35							228.0	226.0	227.0					17																	39118751		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39118751G>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.773C>T	17.37:g.39118751G>A	ENSP00000347823:p.Ser258Phe					KRT39_uc010wfm.1_5'UTR	p.S258F	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			4	809	-		Breast(137;0.00043)|Ovarian(249;0.15)	258			Linker 12.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.773C>T	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466220	0.63625	.	.	ENSG00000196859	ENST00000355612	T	0.76968	-1.06	5.7	5.7	0.88788	Filament (1);	0.000000	0.44285	D	0.000475	D	0.89972	0.6870	M	0.91717	3.235	0.32571	N	0.529832	D	0.76494	0.999	D	0.72982	0.979	D	0.93031	0.6448	10	0.72032	D	0.01	.	14.7176	0.69280	0.0:0.2518:0.7481:0.0	.	258	Q6A163	K1C39_HUMAN	F	258	ENSP00000347823:S258F	ENSP00000347823:S258F	S	-	2	0	KRT39	36372277	0.058000	0.20735	1.000000	0.80357	0.863000	0.49368	2.355000	0.44107	2.692000	0.91855	0.655000	0.94253	TCT		0.448	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		129	256	0	0	0	0	129	256				
STAT5B	6777	broad.mit.edu	37	17	40359689	40359689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:40359689G>T	ENST00000293328.3	-	16	2132	c.1964C>A	c.(1963-1965)tCc>tAc	p.S655Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	655	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTCGGCTAGGGACCGAATGGA	0.418																																						uc002hzh.2		NA																	0				ovary(3)|lung(2)|skin(1)	6						c.(1963-1965)TCC>TAC		signal transducer and activator of transcription	Dasatinib(DB01254)						116.0	115.0	115.0					17																	40359689		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40359689G>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1964C>A	17.37:g.40359689G>T	ENSP00000293328:p.Ser655Tyr						p.S655Y	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	16	2133	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	655			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1964C>A	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154976	0.94686	.	.	ENSG00000173757	ENST00000293328	D	0.97186	-4.28	5.33	5.33	0.75918	SH2 motif (4);	0.099835	0.64402	D	0.000001	D	0.98595	0.9530	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99441	1.0938	10	0.87932	D	0	-1.3444	19.2079	0.93742	0.0:0.0:1.0:0.0	.	655	P51692	STA5B_HUMAN	Y	655	ENSP00000293328:S655Y	ENSP00000293328:S655Y	S	-	2	0	STAT5B	37613215	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.657000	0.98554	2.768000	0.95171	0.655000	0.94253	TCC		0.418	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		13	46	1	0	7.04e-09	1.96e-08	13	46				
TUBD1	51174	broad.mit.edu	37	17	57951968	57951968	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:57951968G>A	ENST00000592426.1	-	5	866	c.866C>T	c.(865-867)aCa>aTa	p.T289I	TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.T289I|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.T289I|TUBD1_ENST00000539018.1_Missense_Mutation_p.T73I			Q9UJT1	TBD_HUMAN	tubulin, delta 1	289					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CCAAGTAAATGTGGTGTATGC	0.423																																						uc002ixw.1		NA																	0				ovary(1)	1						c.(865-867)ACA>ATA		delta-tubulin							206.0	193.0	197.0					17																	57951968		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57951968G>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.866C>T	17.37:g.57951968G>A	ENSP00000468518:p.Thr289Ile					TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Missense_Mutation_p.T254I|TUBD1_uc010ddh.1_Intron|TUBD1_uc010wok.1_Missense_Mutation_p.T289I|TUBD1_uc002ixx.1_Intron|TUBD1_uc010wol.1_Missense_Mutation_p.T73I|TUBD1_uc010ddi.1_Intron	p.T289I	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		6	1144	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		289					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.866C>T	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107387	0.77096	.	.	ENSG00000108423	ENST00000325752;ENST00000394239;ENST00000539018	T;T	0.78924	-1.22;-0.87	5.62	5.62	0.85841	Tubulin/FtsZ, C-terminal (1);	0.424177	0.29537	N	0.011864	D	0.85492	0.5709	M	0.80183	2.485	0.35172	D	0.771674	P;P	0.41848	0.763;0.491	P;B	0.48901	0.594;0.118	D	0.90249	0.4292	10	0.87932	D	0	-2.9523	19.6571	0.95847	0.0:0.0:1.0:0.0	.	289;289	E9PCA7;Q9UJT1	.;TBD_HUMAN	I	289;289;73	ENSP00000320797:T289I;ENSP00000377785:T289I	ENSP00000320797:T289I	T	-	2	0	TUBD1	55306750	1.000000	0.71417	0.945000	0.38365	0.888000	0.51559	5.198000	0.65147	2.651000	0.90000	0.563000	0.77884	ACA		0.423	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		31	218	0	0	0	0	31	218				
SOX9	6662	broad.mit.edu	37	17	70120341	70120341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:70120341C>T	ENST00000245479.2	+	3	1715	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	448					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACCAGAACTCCAGCTCCTAC	0.637																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.2		NA																	0					0						c.(1342-1344)TCC>TTC		transcription factor SOX9							202.0	187.0	192.0					17																	70120341		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120341C>T	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1343C>T	17.37:g.70120341C>T	ENSP00000245479:p.Ser448Phe						p.S448F	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1715	+		Colorectal(1115;0.245)	448					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.1343C>T	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738145	0.89573	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	T	0.78595	-1.19	4.26	4.26	0.50523	.	0.204155	0.43579	D	0.000541	D	0.89347	0.6689	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91756	0.5416	10	0.87932	D	0	.	16.6652	0.85250	0.0:1.0:0.0:0.0	.	448	P48436	SOX9_HUMAN	F	448;384	ENSP00000245479:S448F	ENSP00000245479:S448F	S	+	2	0	SOX9	67631936	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.348000	0.66004	2.098000	0.63641	0.455000	0.32223	TCC		0.637	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		21	151	0	0	0	0	21	151				
ENOSF1	55556	broad.mit.edu	37	18	683302	683302	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:683302A>C	ENST00000251101.7	-	11	908	c.820T>G	c.(820-822)Tgg>Ggg	p.W274G	ENOSF1_ENST00000383578.3_Missense_Mutation_p.W192G|ENOSF1_ENST00000580982.1_Missense_Mutation_p.W198G|ENOSF1_ENST00000340116.7_Missense_Mutation_p.W295G|ENOSF1_ENST00000319815.6_Missense_Mutation_p.W44G|ENOSF1_ENST00000583973.1_5'UTR	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	274					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TCCTCAATCCACAATGGCTTG	0.532																																						uc002kku.3		NA																	0				ovary(1)	1						c.(820-822)TGG>GGG		enolase superfamily 1 isoform rTS beta							137.0	117.0	124.0					18																	683302		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:683302A>C	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.820T>G	18.37:g.683302A>C	ENSP00000251101:p.Trp274Gly					ENOSF1_uc002kkt.3_Missense_Mutation_p.W192G|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.W295G|ENOSF1_uc002kkv.3_Missense_Mutation_p.W261G|ENOSF1_uc002kkw.3_Missense_Mutation_p.W93G|ENOSF1_uc002kkx.3_Missense_Mutation_p.W198G	p.W274G	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN			11	895	-			274					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.820T>G	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452692	0.84209	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.54	5.54	0.83059	Mandelate racemase/muconate lactonizing enzyme, conserved site (1);Mandelate racemase/muconate lactonizing enzyme, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	H	0.97707	4.06	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	1.0;0.999;1.0;1.0;0.999	D	0.86975	0.2100	10	0.87932	D	0	.	14.6506	0.68794	1.0:0.0:0.0:0.0	.	295;93;319;274;192	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	G	192;44;274;295	ENSP00000373072:W192G;ENSP00000313346:W44G;ENSP00000251101:W274G;ENSP00000345974:W295G	ENSP00000251101:W274G	W	-	1	0	ENOSF1	673302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.729000	0.91490	2.096000	0.63516	0.477000	0.44152	TGG		0.532	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		35	73	0	0	0	0	35	73				
LAMA1	284217	broad.mit.edu	37	18	6956637	6956637	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:6956637G>A	ENST00000389658.3	-	56	8185	c.8092C>T	c.(8092-8094)Cca>Tca	p.P2698S	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2698					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTCCTACTGGAAAAGCCCGG	0.572																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8092-8094)CCA>TCA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						59.0	67.0	64.0					18																	6956637		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6956637G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8092C>T	18.37:g.6956637G>A	ENSP00000374309:p.Pro2698Ser					LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.P151S|LAMA1_uc010wzj.1_Missense_Mutation_p.P2174S	p.P2698S	NM_005559	NP_005550	P25391	LAMA1_HUMAN			56	8186	-		Colorectal(10;0.172)	2698						Missense_Mutation	SNP	ENST00000389658.3	37	c.8092C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682864	0.29872	.	.	ENSG00000101680	ENST00000389658;ENST00000344342	T	0.17528	2.27	5.48	3.26	0.37387	.	0.613584	0.15011	N	0.285594	T	0.17492	0.0420	M	0.61703	1.905	0.09310	N	1	B	0.23540	0.087	B	0.19666	0.026	T	0.15378	-1.0439	10	0.54805	T	0.06	.	6.8783	0.24158	0.1836:0.0:0.674:0.1424	.	2698	P25391	LAMA1_HUMAN	S	2698;149	ENSP00000374309:P2698S	ENSP00000341000:P149S	P	-	1	0	LAMA1	6946637	0.972000	0.33761	0.014000	0.15608	0.003000	0.03518	3.018000	0.49625	1.209000	0.43321	0.655000	0.94253	CCA		0.572	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		13	77	0	0	0	0	13	77				
VPS4B	9525	broad.mit.edu	37	18	61074674	61074674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:61074674G>A	ENST00000238497.5	-	4	558	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	VPS4B_ENST00000591519.1_Nonsense_Mutation_p.Q119*|VPS4B_ENST00000591383.1_5'Flank	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	119					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CCTTGAAGTTGATTCTGTAGT	0.289																																						uc002lix.2		NA																	0				ovary(1)	1						c.(355-357)CAA>TAA		vacuolar protein sorting factor 4B							48.0	46.0	47.0					18																	61074674		2201	4290	6491	SO:0001587	stop_gained	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61074674G>A	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.355C>T	18.37:g.61074674G>A	ENSP00000238497:p.Gln119*					VPS4B_uc010dpx.2_Nonsense_Mutation_p.Q119*|VPS4B_uc010dpy.2_Intron|VPS4B_uc010dpz.1_Intron	p.Q119*	NM_004869	NP_004860	O75351	VPS4B_HUMAN			4	615	-			119					Q69HW4|Q9GZS7	Nonsense_Mutation	SNP	ENST00000238497.5	37	c.355C>T	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	39	7.352264	0.98231	.	.	ENSG00000119541	ENST00000238497	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-23.968	20.417	0.99027	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000238497:Q119X	Q	-	1	0	VPS4B	59225654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.609000	0.90898	2.832000	0.97577	0.585000	0.79938	CAA		0.289	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		5	14	0	0	0	0	5	14				
RTTN	25914	broad.mit.edu	37	18	67687941	67687941	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr18:67687941C>T	ENST00000255674.6	-	45	6349	c.6063G>A	c.(6061-6063)atG>atA	p.M2021I	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2021					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTCCAGTGGCATCTGGGAAG	0.468																																						uc002lkp.2		NA																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(6061-6063)ATG>ATA		rotatin							143.0	137.0	139.0					18																	67687941		1950	4153	6103	SO:0001583	missense	25914						binding	g.chr18:67687941C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6063G>A	18.37:g.67687941C>T	ENSP00000255674:p.Met2021Ile					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.M1109I|RTTN_uc002lkn.2_Missense_Mutation_p.M11I|RTTN_uc010dqp.2_Missense_Mutation_p.M273I	p.M2021I	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			45	6131	-		Esophageal squamous(42;0.129)	2021					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6063G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.188640	0.01607	.	.	ENSG00000176225	ENST00000255674	T	0.49720	0.77	6.07	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.714243	0.15248	N	0.272484	T	0.30854	0.0778	L	0.34521	1.04	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.26849	-1.0091	10	0.11794	T	0.64	.	5.5913	0.17303	0.3531:0.4665:0.1152:0.0651	.	2021	Q86VV8	RTTN_HUMAN	I	2021	ENSP00000255674:M2021I	ENSP00000255674:M2021I	M	-	3	0	RTTN	65838921	0.046000	0.20272	0.754000	0.31244	0.192000	0.23643	0.051000	0.14141	0.834000	0.34852	0.650000	0.86243	ATG		0.468	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		19	115	0	0	0	0	19	115				
EVI5L	115704	broad.mit.edu	37	19	7916351	7916351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:7916351G>A	ENST00000270530.4	+	7	981	c.785G>A	c.(784-786)cGt>cAt	p.R262H	EVI5L_ENST00000538904.2_Missense_Mutation_p.R262H	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	262	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACCCACTTCCGTTCCCAAAGC	0.647																																						uc002min.2		NA																	0				ovary(1)	1						c.(784-786)CGT>CAT		ecotropic viral integration site 5-like isoform							309.0	204.0	240.0					19																	7916351		2203	4300	6503	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7916351G>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.785G>A	19.37:g.7916351G>A	ENSP00000270530:p.Arg262His					EVI5L_uc010xjz.1_Missense_Mutation_p.R262H|EVI5L_uc002mio.1_5'UTR	p.R262H	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			7	939	+			262			Rab-GAP TBC.		B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.785G>A	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188429	0.94923	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.11495	2.77;2.77	4.82	4.82	0.62117	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.31804	0.96	0.58432	D	0.999999	D;B	0.62365	0.991;0.438	D;B	0.63033	0.91;0.203	T	0.00860	-1.1537	10	0.45353	T	0.12	-28.3314	15.4311	0.75099	0.0:0.0:1.0:0.0	.	262;262	B9A6I9;Q96CN4	.;EVI5L_HUMAN	H	262	ENSP00000270530:R262H;ENSP00000445905:R262H	ENSP00000270530:R262H	R	+	2	0	EVI5L	7822351	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.469000	0.66749	2.502000	0.84385	0.491000	0.48974	CGT		0.647	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		39	81	0	0	0	0	39	81				
GIPC1	10755	broad.mit.edu	37	19	14593541	14593541	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:14593541T>C	ENST00000393033.4	-	4	517	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	GIPC1_ENST00000345425.2_Missense_Mutation_p.Y83C|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000586027.1_Missense_Mutation_p.Y83C	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	83					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GATCTTGCCATACAGCTCCTT	0.682																																					Pancreas(33;78 923 2910 41023 52850)	uc002myt.2		NA																	0					0						c.(247-249)TAT>TGT		regulator of G-protein signalling 19 interacting							51.0	41.0	44.0					19																	14593541		2203	4300	6503	SO:0001583	missense	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14593541T>C	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.248A>G	19.37:g.14593541T>C	ENSP00000376753:p.Tyr83Cys					GIPC1_uc002myu.2_Missense_Mutation_p.Y83C|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Missense_Mutation_p.Y83C|GIPC1_uc002myy.2_Intron	p.Y83C	NM_005716	NP_005707	O14908	GIPC1_HUMAN			4	518	-			83					A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	ENST00000393033.4	37	c.248A>G	CCDS12310.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951046	0.73787	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000351277	D;D	0.91068	-2.78;-2.78	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.87827	2.91	0.80722	D	1	D	0.69078	0.997	P	0.59288	0.855	D	0.95173	0.8292	10	0.87932	D	0	-9.5649	12.2851	0.54788	0.0:0.0:0.0:1.0	.	83	O14908	GIPC1_HUMAN	C	83	ENSP00000376753:Y83C;ENSP00000340698:Y83C	ENSP00000340698:Y83C	Y	-	2	0	GIPC1	14454541	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	5.536000	0.67180	1.863000	0.54032	0.459000	0.35465	TAT		0.682	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			8	26	0	0	0	0	8	26				
ZNF331	55422	broad.mit.edu	37	19	54080198	54080198	+	Silent	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr19:54080198G>A	ENST00000253144.9	+	7	1717	c.384G>A	c.(382-384)gaG>gaA	p.E128E	ZNF331_ENST00000513999.1_Silent_p.E128E|ZNF331_ENST00000411977.2_Silent_p.E128E|ZNF331_ENST00000512387.1_Silent_p.E128E|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Silent_p.E128E|ZNF331_ENST00000511154.1_Silent_p.E128E|ZNF331_ENST00000511593.2_Silent_p.E128E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATCATAAGGAGAATTCCTTTG	0.418			T	?	follicular thyroid adenoma																																	uc002qbx.1		NA		Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(382-384)GAG>GAA		zinc finger protein 331							95.0	100.0	99.0					19																	54080198		2203	4300	6503	SO:0001819	synonymous_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080198G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.384G>A	19.37:g.54080198G>A						ZNF331_uc002qby.1_Silent_p.E128E|ZNF331_uc002qbz.1_Silent_p.E128E|ZNF331_uc002qca.1_Silent_p.E128E|ZNF331_uc010eqr.1_Silent_p.E128E|ZNF331_uc002qcb.1_Silent_p.E128E|ZNF331_uc002qcc.1_Silent_p.E128E|ZNF331_uc002qcd.1_Silent_p.E128E	p.E128E	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	1818	+			128					Q96GJ4	Silent	SNP	ENST00000253144.9	37	c.384G>A	CCDS33102.1																																																																																				0.418	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		41	90	0	0	0	0	41	90				
SOX11	6664	broad.mit.edu	37	2	5833737	5833737	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:5833737A>T	ENST00000322002.3	+	1	939	c.884A>T	c.(883-885)gAc>gTc	p.D295V	AC108025.2_ENST00000420221.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	295					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCCTCTACGACGAGGTGCGG	0.711																																						uc002qyj.2		NA																	0				central_nervous_system(3)	3						c.(883-885)GAC>GTC		SRY-box 11							4.0	4.0	4.0					2																	5833737		1587	3297	4884	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833737A>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.884A>T	2.37:g.5833737A>T	ENSP00000322568:p.Asp295Val						p.D295V	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	939	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		295					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.884A>T	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022659	0.54683	.	.	ENSG00000176887	ENST00000322002	D	0.98090	-4.71	4.61	4.61	0.57282	.	0.334449	0.17116	U	0.186440	D	0.95105	0.8414	L	0.32530	0.975	0.80722	D	1	P	0.50710	0.938	B	0.41860	0.368	D	0.94879	0.8037	10	0.62326	D	0.03	.	14.0042	0.64453	1.0:0.0:0.0:0.0	.	295	P35716	SOX11_HUMAN	V	295	ENSP00000322568:D295V	ENSP00000322568:D295V	D	+	2	0	SOX11	5751188	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	5.871000	0.69628	1.706000	0.51276	0.459000	0.35465	GAC		0.711	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		3	5	0	0	0	0	3	5				
IFT172	26160	broad.mit.edu	37	2	27688750	27688750	+	Splice_Site	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:27688750C>A	ENST00000260570.3	-	17	1796		c.e17-1			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172						bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TAACATCACCCTGTAAAAGTT	0.507																																						uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.e17-1		selective LIM binding factor homolog							220.0	227.0	225.0					2																	27688750		2203	4300	6503	SO:0001630	splice_region_variant	26160				cilium assembly	cilium	binding	g.chr2:27688750C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1693-1G>T	2.37:g.27688750C>A							p.G565_splice	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			17	1744	-	Acute lymphoblastic leukemia(172;0.155)							A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Splice_Site	SNP	ENST00000260570.3	37	c.1693_splice	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271329	0.80469	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8997	0.88900	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27542254	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.136000	0.77285	2.589000	0.87451	0.655000	0.94253	.		0.507	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	Intron	8	342	1	0	0.00307968	0.00831424	8	342				
NRXN1	9378	broad.mit.edu	37	2	50149201	50149201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:50149201G>A	ENST00000406316.2	-	22	5791	c.4315C>T	c.(4315-4317)Cga>Tga	p.R1439*	NRXN1_ENST00000402717.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.R457*|NRXN1_ENST00000342183.5_Nonsense_Mutation_p.R404*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.R1469*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.R1439*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.R1509*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1439					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R1510*(1)|p.R1439*(1)|p.R404*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGTAGTTTCGACTCTCGTCC	0.478																																						uc010fbp.2		NA																	3	Substitution - Nonsense(3)	p.R404L(1)	large_intestine(3)	ovary(2)	2						c.(1210-1212)CGA>TGA		neurexin 1 isoform beta precursor							225.0	182.0	197.0					2																	50149201		2203	4300	6503	SO:0001587	stop_gained	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149201G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4315C>T	2.37:g.50149201G>A	ENSP00000384311:p.Arg1439*					NRXN1_uc002rxb.3_Nonsense_Mutation_p.R1138*|NRXN1_uc010fbq.2_Nonsense_Mutation_p.R1509*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.R1439*|NRXN1_uc010yon.1_Nonsense_Mutation_p.R104*|NRXN1_uc002rxa.3_Nonsense_Mutation_p.R101*	p.R404*	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2017	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	404			Cytoplasmic (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.1210C>T	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.154296|16.154296	0.99855|0.99855	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000378262	.|T	.|0.67523	.|-0.27	5.44|5.44	4.51|4.51	0.55191|0.55191	.|.	0.000000|.	0.49305|.	U|.	0.000143|.	.|T	.|0.78071	.|0.4226	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81280	.|-0.1004	.|6	0.02654|0.87932	T|D	1|0	.|.	14.7519|14.7519	0.69533|0.69533	0.0:0.0:0.8253:0.1747|0.0:0.0:0.8253:0.1747	.|.	.|.	.|.	.|.	X|L	404;358;457;1509;1439;1461;1469;1510;1461;1439|105	.|ENSP00000367510:S105L	ENSP00000341184:R404X|ENSP00000367510:S105L	R|S	-|-	1|2	2|0	NRXN1|NRXN1	50002705|50002705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.508000|6.508000	0.73721|0.73721	1.352000|1.352000	0.45808|0.45808	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			37	60	0	0	0	0	37	60				
RNF103	7844	broad.mit.edu	37	2	86831161	86831161	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:86831161A>C	ENST00000237455.4	-	4	2831	c.1863T>G	c.(1861-1863)tgT>tgG	p.C621W	AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'Flank|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	621					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGCAAACAACACATTCAGTAC	0.423																																						uc002srn.2		NA																	0				central_nervous_system(1)	1						c.(1861-1863)TGT>TGG		ring finger protein 103							236.0	222.0	227.0					2																	86831161		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831161A>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1863T>G	2.37:g.86831161A>C	ENSP00000237455:p.Cys621Trp					VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.C482W|uc002sro.2_RNA	p.C621W	NM_005667	NP_005658	O00237	RN103_HUMAN			4	2832	-			621	C->S: Loss of E2-dependent ubiquitination.		RING-type.		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1863T>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.212599	0.39102	.	.	ENSG00000239305	ENST00000237455	D	0.99809	-6.86	5.74	2.16	0.27623	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97782	1.0233	10	0.87932	D	0	-15.981	8.125	0.30992	0.6212:0.0:0.3788:0.0	.	621	O00237	RN103_HUMAN	W	621	ENSP00000237455:C621W	ENSP00000237455:C621W	C	-	3	2	RNF103	86684672	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	0.930000	0.28858	0.454000	0.26884	0.383000	0.25322	TGT		0.423	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		22	166	0	0	0	0	22	166				
PLEKHB2	55041	broad.mit.edu	37	2	131890487	131890487	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:131890487T>C	ENST00000403716.1	+	6	906	c.346T>C	c.(346-348)Tct>Cct	p.S116P	PLEKHB2_ENST00000303908.3_Missense_Mutation_p.S116P|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.S116P|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.S68P|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.S116P|PLEKHB2_ENST00000439822.2_Intron	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	116						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GTATGTGGGCTCTGCAGTCAT	0.572																																						uc002tsg.3		NA																	0				ovary(2)	2						c.(346-348)TCT>CCT		pleckstrin homology domain containing, family B							128.0	114.0	119.0					2																	131890487		2203	4300	6503	SO:0001583	missense	55041					membrane	protein binding	g.chr2:131890487T>C		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.346T>C	2.37:g.131890487T>C	ENSP00000385892:p.Ser116Pro					PLEKHB2_uc002tsh.2_Missense_Mutation_p.S116P|PLEKHB2_uc002tsj.3_Missense_Mutation_p.S116P|PLEKHB2_uc002tsf.3_Missense_Mutation_p.S116P|PLEKHB2_uc010zao.1_Missense_Mutation_p.S66P|PLEKHB2_uc010zap.1_Missense_Mutation_p.S116P|PLEKHB2_uc010zaq.1_Intron|PLEKHB2_uc002tsi.3_Missense_Mutation_p.S157P	p.S116P	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0828)	6	906	+			116					B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	37	c.346T>C	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016367	0.35606	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000438882;ENST00000538982;ENST00000404460;ENST00000409612;ENST00000409279;ENST00000303908	T	0.31247	1.5	4.81	4.81	0.61882	.	0.069274	0.64402	U	0.000013	T	0.40498	0.1119	L	0.41824	1.3	0.43613	D	0.995986	D;D;D;B;D;D	0.76494	0.998;0.998;0.999;0.296;0.998;0.998	P;P;D;B;P;P	0.64877	0.878;0.852;0.93;0.06;0.852;0.852	T	0.09907	-1.0653	10	0.25751	T	0.34	-3.7683	11.0344	0.47791	0.0:0.0:0.0:1.0	.	116;116;116;116;116;116	B4DF08;Q53FF1;Q96CS7-3;B7WPA5;Q96CS7;B8ZZN1	.;.;.;.;PKHB2_HUMAN;.	P	116;116;116;116;68;116;116;116;116	ENSP00000444389:S68P	ENSP00000234115:S116P	S	+	1	0	PLEKHB2	131606957	1.000000	0.71417	0.839000	0.33178	0.331000	0.28603	4.105000	0.57797	1.930000	0.55929	0.402000	0.26972	TCT		0.572	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		31	85	0	0	0	0	31	85				
LCT	3938	broad.mit.edu	37	2	136570169	136570169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:136570169G>A	ENST00000264162.2	-	7	2075	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	689	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGATGAGGCGGGAGGTGTAA	0.557																																						uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(2065-2067)CGC>TGC		lactase-phlorizin hydrolase preproprotein							98.0	90.0	93.0					2																	136570169		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570169G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2065C>T	2.37:g.136570169G>A	ENSP00000264162:p.Arg689Cys						p.R689C	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2076	-			689			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2065C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121350	0.77436	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.34667	1.35	5.49	5.49	0.81192	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.316283	0.34725	N	0.003738	T	0.58921	0.2156	M	0.75085	2.285	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.60722	-0.7207	10	0.56958	D	0.05	-14.8521	12.9749	0.58532	0.0:0.0:0.7173:0.2827	.	689	P09848	LPH_HUMAN	C	689;121	ENSP00000264162:R689C	ENSP00000264162:R689C	R	-	1	0	LCT	136286639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.360000	0.52299	2.583000	0.87209	0.655000	0.94253	CGC		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		20	55	0	0	0	0	20	55				
KIF5C	3800	broad.mit.edu	37	2	149806405	149806405	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:149806405A>G	ENST00000435030.1	+	9	1135	c.767A>G	c.(766-768)aAt>aGt	p.N256S	KIF5C_ENST00000414838.2_Missense_Mutation_p.N161S|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.N24S			O60282	KIF5C_HUMAN	kinesin family member 5C	256	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAATATCAATAAGTCTTTG	0.453																																						uc010zbu.1		NA																	0				skin(1)	1						c.(766-768)AAT>AGT		kinesin family member 5C							104.0	102.0	103.0					2																	149806405		1920	4137	6057	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149806405A>G	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.767A>G	2.37:g.149806405A>G	ENSP00000393379:p.Asn256Ser					KIF5C_uc002tws.1_RNA	p.N256S	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	9	1135	+			256			Kinesin-motor.|Microtubule-binding.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.767A>G		.	.	.	.	.	.	.	.	.	.	A	28.7	4.946510	0.92593	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.84223	-1.82;-1.82;-1.82	5.65	5.65	0.86999	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.92519	0.7624	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93393	0.6753	9	0.87932	D	0	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	256	O60282	KIF5C_HUMAN	S	256;161;159;24	ENSP00000393379:N256S;ENSP00000410115:N161S;ENSP00000380560:N24S	ENSP00000334176:N159S	N	+	2	0	KIF5C	149514651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	AAT		0.453	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		9	44	0	0	0	0	9	44				
SP5	389058	broad.mit.edu	37	2	171573597	171573597	+	Missense_Mutation	SNP	A	A	C	rs200305999		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:171573597A>C	ENST00000375281.3	+	2	1042	c.880A>C	c.(880-882)Aag>Cag	p.K294Q	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	294					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GGGGAAGAAGAAGCAGCACGT	0.741																																						uc002uge.2		NA																	0					0						c.(880-882)AAG>CAG		Sp5 transcription factor		A	GLN/LYS	0,4310		0,0,2155	8.0	7.0	7.0		880	3.7	1.0	2		7	5,8489		0,5,4242	no	missense	SP5	NM_001003845.2	53	0,5,6397	CC,CA,AA		0.0589,0.0,0.0391	probably-damaging	294/399	171573597	5,12799	2155	4247	6402	SO:0001583	missense	389058				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:171573597A>C		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.880A>C	2.37:g.171573597A>C	ENSP00000364430:p.Lys294Gln						p.K294Q	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN			2	1046	+			294						Missense_Mutation	SNP	ENST00000375281.3	37	c.880A>C	CCDS33322.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.428875	0.62844	0.0	5.89E-4	ENSG00000204335	ENST00000375281	T	0.12569	2.67	4.86	3.69	0.42338	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.14787	0.0357	M	0.83603	2.65	0.51482	D	0.999921	P	0.39480	0.675	B	0.27500	0.08	T	0.03287	-1.1052	10	0.59425	D	0.04	.	7.1052	0.25360	0.773:0.1474:0.0796:0.0	.	294	Q6BEB4	SP5_HUMAN	Q	294	ENSP00000364430:K294Q	ENSP00000364430:K294Q	K	+	1	0	SP5	171281843	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	6.041000	0.70988	0.803000	0.34113	-0.263000	0.10527	AAG		0.741	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		3	9	0	0	0	0	3	9				
METAP1D	254042	broad.mit.edu	37	2	172942597	172942597	+	Silent	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:172942597T>C	ENST00000315796.4	+	7	1164	c.777T>C	c.(775-777)caT>caC	p.H259H	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	259					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CTTACTTTCATGGACATCCAG	0.383																																						uc002uhk.2		NA																	0					0						c.(775-777)CAT>CAC		methionine aminopeptidase 1D precursor							99.0	91.0	94.0					2																	172942597		2203	4300	6503	SO:0001819	synonymous_variant	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172942597T>C	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.777T>C	2.37:g.172942597T>C						MAP1D_uc010zdw.1_Silent_p.H141H	p.H259H	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		7	850	+			259				Substrate (By similarity).	Q1WNX3	Silent	SNP	ENST00000315796.4	37	c.777T>C	CCDS2246.1																																																																																				0.383	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		22	40	0	0	0	0	22	40				
AGPS	8540	broad.mit.edu	37	2	178388494	178388494	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:178388494A>G	ENST00000264167.4	+	19	1962	c.1816A>G	c.(1816-1818)Atc>Gtc	p.I606V	AGPS_ENST00000409888.1_Missense_Mutation_p.I137V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	606					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TAGAGAAGAAATCCTTGCTAA	0.358																																						uc002ull.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1816-1818)ATC>GTC		alkyldihydroxyacetone phosphate synthase							108.0	111.0	110.0					2																	178388494		2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178388494A>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1816A>G	2.37:g.178388494A>G	ENSP00000264167:p.Ile606Val					AGPS_uc010zfb.1_Missense_Mutation_p.I516V	p.I606V	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		19	1863	+			606					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1816A>G	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257742	0.80246	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	D;D	0.83250	-1.7;-1.7	5.63	5.63	0.86233	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.77103	2.36	0.58432	D	0.999999	D	0.58970	0.984	D	0.64237	0.923	D	0.91129	0.4936	10	0.59425	D	0.04	.	16.1242	0.81382	1.0:0.0:0.0:0.0	.	606	O00116	ADAS_HUMAN	V	606;137	ENSP00000264167:I606V;ENSP00000386688:I137V	ENSP00000264167:I606V	I	+	1	0	AGPS	178096740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.283000	0.72646	2.257000	0.74773	0.528000	0.53228	ATC		0.358	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			18	58	0	0	0	0	18	58				
NDUFS1	4719	broad.mit.edu	37	2	206988923	206988923	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:206988923G>A	ENST00000233190.6	-	19	2436	c.2170C>T	c.(2170-2172)Cca>Tca	p.P724S	NDUFS1_ENST00000432169.1_Missense_Mutation_p.P613S|NDUFS1_ENST00000423725.1_Missense_Mutation_p.P667S|NDUFS1_ENST00000449699.1_Missense_Mutation_p.P724S|NDUFS1_ENST00000455934.2_Missense_Mutation_p.P738S|NDUFS1_ENST00000457011.1_Missense_Mutation_p.P608S|NDUFS1_ENST00000440274.1_Missense_Mutation_p.P688S|AC007383.4_ENST00000453039.1_RNA	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	724					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATATGGATGGTTCCTCTACT	0.418																																						uc002vbe.2		NA																	0				ovary(1)	1						c.(2170-2172)CCA>TCA		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						121.0	102.0	108.0					2																	206988923		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:206988923G>A		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.2170C>T	2.37:g.206988923G>A	ENSP00000233190:p.Pro724Ser					NDUFS1_uc010ziq.1_Missense_Mutation_p.P738S|NDUFS1_uc010zir.1_Missense_Mutation_p.P688S|NDUFS1_uc010zis.1_Missense_Mutation_p.P667S|NDUFS1_uc010zit.1_Missense_Mutation_p.P613S|NDUFS1_uc010ziu.1_Missense_Mutation_p.P608S	p.P724S	NM_005006	NP_004997	P28331	NDUS1_HUMAN			19	2297	-			724					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.2170C>T	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813990	0.70912	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.87491	-2.24;-2.21;-2.1;-2.11;-2.26;-2.24;-2.1	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	L	0.34521	1.04	0.80722	D	1	B;P;P;P	0.36222	0.323;0.483;0.544;0.544	B;B;B;B	0.27380	0.079;0.057;0.077;0.077	T	0.83101	-0.0128	10	0.72032	D	0.01	-11.9844	18.8631	0.92281	0.0:0.0:1.0:0.0	.	613;688;738;724	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	S	724;667;608;688;738;724;613	ENSP00000233190:P724S;ENSP00000397760:P667S;ENSP00000400976:P608S;ENSP00000409766:P688S;ENSP00000392709:P738S;ENSP00000399912:P724S;ENSP00000409689:P613S	ENSP00000233190:P724S	P	-	1	0	NDUFS1	206697168	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	7.573000	0.82421	2.456000	0.83038	0.563000	0.77884	CCA		0.418	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		15	46	0	0	0	0	15	46				
ANKZF1	55139	broad.mit.edu	37	2	220098107	220098107	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:220098107C>T	ENST00000323348.5	+	7	945	c.771C>T	c.(769-771)caC>caT	p.H257H	ANKZF1_ENST00000410034.3_Silent_p.H257H|ANKZF1_ENST00000409849.1_Silent_p.H47H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	257						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCATCACACTCTGCTGGAG	0.522																																						uc002vkg.2		NA																	0				ovary(2)	2						c.(769-771)CAC>CAT		ankyrin repeat and zinc finger domain containing							40.0	42.0	41.0					2																	220098107		1935	4145	6080	SO:0001819	synonymous_variant	55139					intracellular	zinc ion binding	g.chr2:220098107C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.771C>T	2.37:g.220098107C>T						ANKZF1_uc010zkv.1_Silent_p.H201H|ANKZF1_uc010zkw.1_Silent_p.H47H|ANKZF1_uc002vkh.2_Silent_p.H47H|ANKZF1_uc002vki.2_Silent_p.H257H|ANKZF1_uc002vkj.1_Silent_p.H245H	p.H257H	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	945	+		Renal(207;0.0474)	257					Q9NVZ4	Silent	SNP	ENST00000323348.5	37	c.771C>T	CCDS42821.1																																																																																				0.522	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		17	52	0	0	0	0	17	52				
ALPPL2	251	broad.mit.edu	37	2	233272011	233272011	+	Missense_Mutation	SNP	C	C	T	rs377699892		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr2:233272011C>T	ENST00000295453.3	+	3	252	c.200C>T	c.(199-201)aCg>aTg	p.T67M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	67					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GGGGTGTCTACGGTGACAGCT	0.627																																						uc002vss.3		NA																	0				skin(1)	1						c.(199-201)ACG>ATG		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	94.0	93.0	93.0		200	2.0	0.9	2		93	0,8600		0,0,4300	no	missense	ALPPL2	NM_031313.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	67/533	233272011	1,13005	2203	4300	6503	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272011C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.200C>T	2.37:g.233272011C>T	ENSP00000295453:p.Thr67Met						p.T67M	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	253	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	67					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.200C>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797688	0.50208	2.27E-4	0.0	ENSG00000163286	ENST00000295453	D	0.96427	-4.01	1.98	1.98	0.26296	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	M	0.90082	3.085	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.98468	1.0599	10	0.87932	D	0	.	12.9807	0.58562	0.0:1.0:0.0:0.0	.	67	P10696	PPBN_HUMAN	M	67	ENSP00000295453:T67M	ENSP00000295453:T67M	T	+	2	0	ALPPL2	232980255	0.997000	0.39634	0.882000	0.34594	0.592000	0.36648	3.559000	0.53756	1.410000	0.46936	0.205000	0.17691	ACG		0.627	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		22	59	0	0	0	0	22	59				
SLC52A3	113278	broad.mit.edu	37	20	744241	744241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:744241G>A	ENST00000217254.7	-	3	1215	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Missense_Mutation_p.S325F	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	325					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GGACAGGCAGGAGTAGGTCTG	0.627																																						uc002wed.3		NA																	0				ovary(2)	2						c.(973-975)TCC>TTC		hypothetical protein LOC113278 precursor							136.0	111.0	119.0					20																	744241		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744241G>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.974C>T	20.37:g.744241G>A	ENSP00000217254:p.Ser325Phe					C20orf54_uc002wee.2_Missense_Mutation_p.S325F	p.S325F	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			3	1313	-			325					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.974C>T	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543584	0.86022	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.76839	-1.05;-1.05	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91923	0.5549	10	0.87932	D	0	-42.335	17.0351	0.86473	0.0:0.0:1.0:0.0	.	325;325	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	F	325	ENSP00000217254:S325F;ENSP00000371370:S325F	ENSP00000217254:S325F	S	-	2	0	C20orf54	692241	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.753000	0.98904	2.359000	0.80004	0.561000	0.74099	TCC		0.627	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		22	118	0	0	0	0	22	118				
BMP2	650	broad.mit.edu	37	20	6759194	6759194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:6759194A>G	ENST00000378827.4	+	3	1868	c.649A>G	c.(649-651)Act>Gct	p.T217A		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	217					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GATGCGGTGGACTGCACAGGG	0.522																																						uc002wmu.1		NA																	0				ovary(1)|breast(1)	2						c.(649-651)ACT>GCT		bone morphogenetic protein 2 preproprotein	Simvastatin(DB00641)						55.0	51.0	52.0					20																	6759194		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6759194A>G		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.649A>G	20.37:g.6759194A>G	ENSP00000368104:p.Thr217Ala						p.T217A	NM_001200	NP_001191	P12643	BMP2_HUMAN			3	1434	+			217						Missense_Mutation	SNP	ENST00000378827.4	37	c.649A>G	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.409999	0.25465	.	.	ENSG00000125845	ENST00000378827	T	0.66099	-0.19	5.76	5.76	0.90799	Transforming growth factor-beta, N-terminal (1);	0.086465	0.85682	D	0.000000	T	0.52933	0.1765	L	0.42581	1.335	0.45648	D	0.998576	B	0.13145	0.007	B	0.11329	0.006	T	0.48636	-0.9018	10	0.31617	T	0.26	.	11.4378	0.50078	0.9299:0.0:0.0701:0.0	.	217	P12643	BMP2_HUMAN	A	217	ENSP00000368104:T217A	ENSP00000368104:T217A	T	+	1	0	BMP2	6707194	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.226000	0.65299	2.323000	0.78572	0.528000	0.53228	ACT		0.522	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			4	49	0	0	0	0	4	49				
RIMS4	140730	broad.mit.edu	37	20	43385559	43385559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:43385559G>A	ENST00000372851.3	-	5	637	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	RIMS4_ENST00000541604.2_Missense_Mutation_p.P192S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	191	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.P191T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TTGCCCTGGGGACTCTCAGGA	0.567																																						uc002xms.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(571-573)CCC>TCC		regulating synaptic membrane exocytosis 4							269.0	235.0	247.0					20																	43385559		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43385559G>A		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.571C>T	20.37:g.43385559G>A	ENSP00000361942:p.Pro191Ser					RIMS4_uc010ggu.2_Missense_Mutation_p.P192S	p.P191S	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			5	571	-		Myeloproliferative disorder(115;0.0122)	191			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.571C>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295137	0.81025	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.69926	-0.44;-0.44	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.77616	2.38	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.69142	0.962;0.962	T	0.79364	-0.1834	10	0.28530	T	0.3	.	18.6881	0.91573	0.0:0.0:1.0:0.0	.	192;191	E1P613;Q9H426	.;RIMS4_HUMAN	S	191;192	ENSP00000361942:P191S;ENSP00000439287:P192S	ENSP00000361942:P191S	P	-	1	0	RIMS4	42818973	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.404000	0.81709	0.462000	0.41574	CCC		0.567	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		139	217	0	0	0	0	139	217				
ZDHHC8	29801	broad.mit.edu	37	22	20127348	20127348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:20127348G>A	ENST00000334554.7	+	4	631	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.V164M|ZDHHC8_ENST00000468112.1_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	164					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTGGGCGTCGTGGCCTTCGG	0.602																																						uc002zrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(490-492)GTG>ATG		zinc finger, DHHC domain containing 8							80.0	66.0	71.0					22																	20127348		2203	4300	6503	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20127348G>A	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.490G>A	22.37:g.20127348G>A	ENSP00000334490:p.Val164Met					ZDHHC8_uc002zrr.1_Missense_Mutation_p.V164M|ZDHHC8_uc010gsa.2_Intron	p.V164M	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			4	596	+	Colorectal(54;0.0993)		164			Helical; (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.490G>A	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.169939	0.57584	.	.	ENSG00000099904	ENST00000436518;ENST00000334554;ENST00000405930	T;T;T	0.25579	1.79;1.79;1.79	3.47	2.31	0.28768	.	0.137830	0.48767	D	0.000178	T	0.13713	0.0332	N	0.16066	0.365	0.38806	D	0.9553	P;B	0.51653	0.947;0.26	B;B	0.41036	0.346;0.122	T	0.07009	-1.0795	10	0.72032	D	0.01	.	8.7245	0.34460	0.0:0.0:0.5067:0.4933	.	164;164	Q9ULC8-3;Q9ULC8	.;ZDHC8_HUMAN	M	153;164;164	ENSP00000412807:V153M;ENSP00000334490:V164M;ENSP00000384716:V164M	ENSP00000334490:V164M	V	+	1	0	ZDHHC8	18507348	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	6.438000	0.73426	1.882000	0.54519	0.462000	0.41574	GTG		0.602	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		8	60	0	0	0	0	8	60				
PIK3IP1	113791	broad.mit.edu	37	22	31688261	31688261	+	Splice_Site	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:31688261C>T	ENST00000215912.5	-	1	253	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	PIK3IP1_ENST00000441972.1_Splice_Site_p.G24S|PIK3IP1_ENST00000402249.3_Splice_Site_p.G24S|PIK3IP1_ENST00000487265.2_Splice_Site_p.E24K|RP3-400N23.6_ENST00000440456.1_RNA	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	24	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						GTAATCTCACCTCCAGATCCA	0.502											OREG0026478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003akm.2		NA																	0				ovary(1)	1						c.(70-72)GGC>AGC		HGFL protein isoform 1							138.0	117.0	124.0					22																	31688261		2203	4300	6503	SO:0001630	splice_region_variant	113791					integral to membrane		g.chr22:31688261C>T	BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.70+1G>A	22.37:g.31688261C>T			OREG0026478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	826	PIK3IP1_uc003akl.2_5'Flank|PIK3IP1_uc011alo.1_Missense_Mutation_p.G24S|PIK3IP1_uc003akn.2_Silent_p.E4E|PIK3IP1_uc003ako.2_Missense_Mutation_p.G24S	p.G24S	NM_052880	NP_443112	Q96FE7	P3IP1_HUMAN			1	260	-			24			Extracellular (Potential).|Kringle.		B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	ENST00000215912.5	37	c.70G>A	CCDS13893.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.565015|3.565015	0.65651|0.65651	.|.	.|.	ENSG00000100100|ENSG00000100100	ENST00000487265|ENST00000215912;ENST00000416925;ENST00000441972;ENST00000402249;ENST00000443175	T|T;T;T;T	0.46063|0.40756	0.88|1.02;1.02;1.02;1.02	4.08|4.08	4.08|4.08	0.47627|0.47627	.|Kringle (3);Kringle-like fold (1);	.|0.344601	.|0.29699	.|N	.|0.011434	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.60455|0.60455	1.87|1.87	0.38407|0.38407	D|D	0.945834|0.945834	.|P;P;B	.|0.44139	.|0.734;0.827;0.295	.|B;B;B	.|0.44133	.|0.142;0.442;0.099	T|T	0.42732|0.42732	-0.9434|-0.9434	6|9	.|.	.|.	.|.	-7.9189|-7.9189	12.0749|12.0749	0.53638|0.53638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|24;24;24	.|B4DRR9;Q96FE7-2;Q96FE7	.|.;.;P3IP1_HUMAN	K|S	24|24	ENSP00000441361:E24K|ENSP00000215912:G24S;ENSP00000415608:G24S;ENSP00000385204:G24S;ENSP00000414227:G24S	.|.	E|G	-|-	1|1	0|0	PIK3IP1|PIK3IP1	30018261|30018261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.556000|2.556000	0.45862|0.45862	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GAG|GGC		0.502	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321939.1	NM_052880	Missense_Mutation	23	56	0	0	0	0	23	56				
C22orf42	150297	broad.mit.edu	37	22	32545757	32545757	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:32545757C>T	ENST00000382097.3	-	8	737	c.665G>A	c.(664-666)aGa>aAa	p.R222K	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	222										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATCTTCATATCTCTCCTTTGC	0.338																																						uc003amd.2		NA																	0				ovary(1)|skin(1)	2						c.(664-666)AGA>AAA		chromosome 22 open reading frame 42							28.0	29.0	29.0					22																	32545757		2194	4297	6491	SO:0001583	missense	150297							g.chr22:32545757C>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.665G>A	22.37:g.32545757C>T	ENSP00000371529:p.Arg222Lys						p.R222K	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			8	706	-			222					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.665G>A	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	C	1.305	-0.603843	0.03717	.	.	ENSG00000205856	ENST00000382097	T	0.32272	1.46	.	.	.	.	.	.	.	.	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B	0.28667	0.219	B	0.32090	0.14	T	0.27468	-1.0073	7	0.87932	D	0	.	.	.	.	.	222	Q6IC83	CV042_HUMAN	K	222	ENSP00000371529:R222K	ENSP00000371529:R222K	R	-	2	0	C22orf42	30875757	0.003000	0.15002	0.055000	0.19348	0.165000	0.22458	0.186000	0.16978	0.429000	0.26202	0.064000	0.15345	AGA		0.338	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		9	48	0	0	0	0	9	48				
TUBGCP6	85378	broad.mit.edu	37	22	50654274	50654274	+	IGR	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr22:50654274T>C	ENST00000248846.5	-	0	5612				TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000492092.1_3'UTR|SELO_ENST00000380903.2_Missense_Mutation_p.F494L			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGGCTGGCCTTCCGGCCCCA	0.582																																						uc011arr.1		NA																	0					0						c.(1480-1482)TTC>CTC		selenoprotein O							50.0	59.0	56.0					22																	50654274		2039	4178	6217	SO:0001628	intergenic_variant	83642							g.chr22:50654274T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50654274T>C						SELO_uc010hap.2_Missense_Mutation_p.F305L|SELO_uc003bjy.2_Missense_Mutation_p.F174L|SELO_uc003bjz.2_Missense_Mutation_p.L246P	p.F494L	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	6	1538	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	494					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1480T>C	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	t	10.93	1.490402	0.26686	.	.	ENSG00000073169	ENST00000380903	T	0.46819	0.86	5.71	4.66	0.58398	.	0.249881	0.40728	N	0.001037	T	0.45115	0.1326	M	0.79614	2.46	0.34583	D	0.714676	B;B	0.13145	0.007;0.005	B;B	0.14023	0.006;0.01	T	0.51180	-0.8738	10	0.11182	T	0.66	.	10.0608	0.42273	0.0:0.0839:0.0:0.9161	.	494;337	Q9BVL4;Q6ICA4	SELO_HUMAN;.	L	494	ENSP00000370288:F494L	ENSP00000370288:F494L	F	+	1	0	RP3-402G11.5	48996401	0.998000	0.40836	0.484000	0.27391	0.832000	0.47134	2.060000	0.41394	0.990000	0.38787	0.454000	0.30748	TTC		0.582	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		19	58	0	0	0	0	19	58				
CSPG5	10675	broad.mit.edu	37	3	47618893	47618893	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:47618893A>T	ENST00000383738.2	-	2	2721	c.623T>A	c.(622-624)aTt>aAt	p.I208N	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.I208N|CSPG5_ENST00000456150.1_Missense_Mutation_p.I70N	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	208					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCGATGTCAATGATATCTGA	0.587																																						uc003crp.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(622-624)ATT>AAT		chondroitin sulfate proteoglycan 5 (neuroglycan							53.0	56.0	55.0					3																	47618893		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618893A>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.623T>A	3.37:g.47618893A>T	ENSP00000373244:p.Ile208Asn					CSPG5_uc003crn.2_Missense_Mutation_p.I70N|CSPG5_uc003cro.3_Missense_Mutation_p.I208N|CSPG5_uc011bbb.1_Missense_Mutation_p.I70N	p.I208N	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	799	-			208			Extracellular (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.623T>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.429900	0.83776	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.58652	0.32;0.32;0.32	4.26	4.26	0.50523	Chondroitin sulphate attachment (1);	0.154637	0.43747	D	0.000527	T	0.63593	0.2524	L	0.29908	0.895	0.39333	D	0.965447	D;D	0.76494	0.999;0.998	D;D	0.75020	0.981;0.985	T	0.68842	-0.5302	10	0.72032	D	0.01	-9.7786	12.6119	0.56556	1.0:0.0:0.0:0.0	.	208;208	O95196;O95196-2	CSPG5_HUMAN;.	N	70;208;208	ENSP00000392096:I70N;ENSP00000373244:I208N;ENSP00000264723:I208N	ENSP00000264723:I208N	I	-	2	0	CSPG5	47593897	1.000000	0.71417	0.964000	0.40570	0.981000	0.71138	5.580000	0.67464	1.908000	0.55244	0.523000	0.50628	ATT		0.587	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		13	24	0	0	0	0	13	24				
MST1R	4486	broad.mit.edu	37	3	49933239	49933239	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:49933239C>T	ENST00000296474.3	-	12	2898	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	MST1R_ENST00000344206.4_Silent_p.T908T	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	957					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.T957T(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)		TACCAAGGAGCGTGCTCTGTG	0.607																																						uc003cxy.3		NA																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(5)|lung(1)	6						c.(2869-2871)ACG>ACA		macrophage stimulating 1 receptor precursor							62.0	62.0	62.0					3																	49933239		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:49933239C>T	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.2871G>A	3.37:g.49933239C>T						MST1R_uc011bdc.1_5'UTR	p.T957T	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)	12	3135	-			957			Extracellular (Potential).		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.2871G>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	6.656	0.489541	0.12641	.	.	ENSG00000164078	ENST00000434765	.	.	.	5.43	-10.9	0.00192	.	.	.	.	.	T	0.21468	0.0517	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.14755	-1.0461	4	.	.	.	2.0586	6.3956	0.21611	0.0905:0.1811:0.0901:0.6383	.	.	.	.	H	4	.	.	R	-	2	0	MST1R	49908243	0.000000	0.05858	0.001000	0.08648	0.178000	0.23041	-1.751000	0.01821	-1.597000	0.01609	-0.333000	0.08304	CGC		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			6	46	0	0	0	0	6	46				
PHLDB2	90102	broad.mit.edu	37	3	111686631	111686631	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:111686631T>A	ENST00000431670.2	+	15	3686	c.3275T>A	c.(3274-3276)aTa>aAa	p.I1092K	PHLDB2_ENST00000393923.3_Missense_Mutation_p.I1076K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.I1049K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.I1049K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.I583K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.I1092K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1092						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAGAAGTTAATAGAAAAGGAA	0.468											OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010hqa.2		NA																	0				ovary(4)|skin(2)	6						c.(3274-3276)ATA>AAA		pleckstrin homology-like domain, family B,							59.0	61.0	60.0					3																	111686631		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111686631T>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3275T>A	3.37:g.111686631T>A	ENSP00000405405:p.Ile1092Lys		OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	PHLDB2_uc003dyc.2_Missense_Mutation_p.I1076K|PHLDB2_uc003dyd.2_Missense_Mutation_p.I1049K|PHLDB2_uc003dyg.2_Missense_Mutation_p.I1092K|PHLDB2_uc003dyh.2_Missense_Mutation_p.I1049K|PHLDB2_uc003dyi.2_Missense_Mutation_p.I583K|PHLDB2_uc003dyj.2_Missense_Mutation_p.I147K	p.I1092K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			15	3686	+			1092			Potential.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3275T>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.906184	0.92107	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.76	5.76	0.90799	.	0.057329	0.64402	N	0.000001	T	0.66157	0.2761	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	0.966;0.958;0.994;1.0;1.0	P;P;D;D;D	0.79108	0.543;0.69;0.973;0.992;0.992	T	0.67803	-0.5576	10	0.59425	D	0.04	.	15.3444	0.74324	0.0:0.0:0.0:1.0	.	204;583;1092;1049;1076	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	K	1076;1092;1049;1049;1092;1049;583	ENSP00000377500:I1076K;ENSP00000405405:I1092K;ENSP00000405292:I1049K;ENSP00000418296:I1049K;ENSP00000377502:I1092K;ENSP00000418319:I1049K;ENSP00000420303:I583K	ENSP00000377500:I1076K	I	+	2	0	PHLDB2	113169321	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.314000	0.78988	2.324000	0.78689	0.533000	0.62120	ATA		0.468	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		7	29	0	0	0	0	7	29				
PLXNA1	5361	broad.mit.edu	37	3	126752808	126752808	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:126752808G>A	ENST00000393409.2	+	31	5639	c.5639G>A	c.(5638-5640)cGg>cAg	p.R1880Q	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1857Q|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1880					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCGGCAGCGGCTGCGGAGC	0.652																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5569-5571)CGG>CAG		plexin A1							24.0	25.0	25.0					3																	126752808		2198	4294	6492	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126752808G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5639G>A	3.37:g.126752808G>A	ENSP00000377061:p.Arg1880Gln					PLXNA1_uc003ejh.2_Missense_Mutation_p.R525Q	p.R1857Q	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	31	5574	+			1880			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.5570G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151282	0.78001	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.08546	3.08;3.08	4.02	4.02	0.46733	.	0.000000	0.48767	D	0.000180	T	0.08537	0.0212	L	0.42632	1.34	0.80722	D	1	B;P	0.36974	0.244;0.576	B;B	0.33121	0.043;0.158	T	0.33548	-0.9864	10	0.27785	T	0.31	.	15.918	0.79539	0.0:0.0:1.0:0.0	.	494;1880	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	Q	1880;1857	ENSP00000377061:R1880Q;ENSP00000251772:R1857Q	ENSP00000251772:R1857Q	R	+	2	0	PLXNA1	128235498	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.634000	0.83273	2.084000	0.62774	0.313000	0.20887	CGG		0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		4	16	0	0	0	0	4	16				
ZNF595	152687	broad.mit.edu	37	4	86195	86195	+	3'UTR	SNP	G	G	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:86195G>C	ENST00000339368.6	+	0	1004							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CCTTTACAAGGTCCACAACAC	0.408																																						uc003fzv.1		NA																	0					0						c.(799-801)AGG>AGC		zinc finger protein 595							39.0	42.0	41.0					4																	86195		2143	4256	6399	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:86195G>C	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1001G>C	4.37:g.86195G>C						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.R35S|ZNF595_uc011but.1_Missense_Mutation_p.R35S	p.R267S	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	957	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	267						Missense_Mutation	SNP	ENST00000339368.6	37	c.801G>C																																																																																					0.408	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		40	21	0	0	0	0	40	21				
TACC3	10460	broad.mit.edu	37	4	1746264	1746264	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:1746264A>G	ENST00000313288.4	+	14	2349	c.2243A>G	c.(2242-2244)aAg>aGg	p.K748R		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	748					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCACTGAAGAAGTGCGTGGAG	0.612																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2242-2244)AAG>AGG		transforming, acidic coiled-coil containing							73.0	69.0	70.0					4																	1746264		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1746264A>G	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2243A>G	4.37:g.1746264A>G	ENSP00000326550:p.Lys748Arg					TACC3_uc003gdp.2_Missense_Mutation_p.K388R|TACC3_uc010ica.2_Missense_Mutation_p.K169R	p.K748R	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		14	2351	+		Breast(71;0.212)|all_epithelial(65;0.241)	748			Potential.		Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.2243A>G	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197411	0.38806	.	.	ENSG00000013810	ENST00000313288	T	0.55413	0.52	5.21	2.71	0.32032	.	0.209202	0.31472	N	0.007592	T	0.69984	0.3172	M	0.82630	2.6	0.27231	N	0.959402	B;D	0.76494	0.056;0.999	B;D	0.74674	0.046;0.984	T	0.63028	-0.6728	10	0.87932	D	0	-31.9402	8.8889	0.35420	0.8358:0.0:0.1642:0.0	.	748;748	Q2NKK4;Q9Y6A5	.;TACC3_HUMAN	R	748	ENSP00000326550:K748R	ENSP00000326550:K748R	K	+	2	0	TACC3	1716062	0.979000	0.34478	0.990000	0.47175	0.014000	0.08584	1.769000	0.38522	0.410000	0.25675	-0.408000	0.06270	AAG		0.612	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			41	21	0	0	0	0	41	21				
RBPJ	3516	broad.mit.edu	37	4	26407892	26407892	+	Splice_Site	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:26407892G>A	ENST00000361572.6	+	3	388	c.194G>A	c.(193-195)aGg>aAg	p.R65K	RBPJ_ENST00000355476.3_Splice_Site_p.R51K|RBPJ_ENST00000342295.1_Splice_Site_p.R65K|RBPJ_ENST00000345843.3_Splice_Site_p.R50K|RBPJ_ENST00000342320.4_Splice_Site_p.R51K|RBPJ_ENST00000507561.1_Splice_Site_p.R30K|RBPJ_ENST00000348160.4_Splice_Site_p.R52K|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000504907.1_Splice_Site_p.R51K			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	65					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATGAAAAAAGGTAAGATTAT	0.333																																						uc003grx.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(193-195)AGG>AAG		recombining binding protein suppressor of							79.0	88.0	85.0					4																	26407892		2203	4299	6502	SO:0001630	splice_region_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26407892G>A	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.194+1G>A	4.37:g.26407892G>A						RBPJ_uc003gry.1_Missense_Mutation_p.R50K|RBPJ_uc003grz.1_Missense_Mutation_p.R65K|RBPJ_uc011bxt.1_Missense_Mutation_p.R65K|RBPJ_uc003gsa.1_Missense_Mutation_p.R51K|RBPJ_uc003gsb.1_Missense_Mutation_p.R52K|RBPJ_uc003gsc.1_Missense_Mutation_p.R51K	p.R65K	NM_005349	NP_005340	Q06330	SUH_HUMAN			4	430	+		Breast(46;0.0503)	65					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.194G>A	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464740	0.96257	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.4	5.4	0.78164	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D	0.64830	0.994;0.994;0.99;0.987;0.987;0.99	P;P;P;P;P;P	0.62184	0.866;0.866;0.899;0.837;0.837;0.899	D	0.98137	1.0434	10	0.87932	D	0	-15.0529	18.7556	0.91832	0.0:0.0:1.0:0.0	.	65;51;52;51;50;65	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	K	51;88;51;65;50;65;65;52;51;30;51;30;51;30;51;51;51;30	ENSP00000424789:R51K;ENSP00000427170:R88K;ENSP00000425750:R51K;ENSP00000423644:R65K;ENSP00000305815:R50K;ENSP00000345206:R65K;ENSP00000354528:R65K;ENSP00000339699:R52K;ENSP00000347659:R51K;ENSP00000423907:R30K;ENSP00000425061:R51K;ENSP00000422617:R30K;ENSP00000423575:R51K;ENSP00000423406:R30K;ENSP00000422838:R51K;ENSP00000423703:R51K;ENSP00000340124:R51K;ENSP00000424459:R30K	ENSP00000345206:R65K	R	+	2	0	RBPJ	26016990	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.232000	0.95325	2.517000	0.84864	0.591000	0.81541	AGG		0.333	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	Missense_Mutation	56	37	0	0	0	0	56	37				
UGT2B11	10720	broad.mit.edu	37	4	70080272	70080272	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:70080272C>G	ENST00000446444.1	-	1	177	c.169G>C	c.(169-171)Gca>Cca	p.A57P	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	57					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTGAAGATGCCAGTACAGTC	0.393																																						uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(169-171)GCA>CCA		UDP glucuronosyltransferase 2 family,							72.0	80.0	77.0					4																	70080272		2198	4275	6473	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080272C>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.169G>C	4.37:g.70080272C>G	ENSP00000387683:p.Ala57Pro					uc003hei.1_RNA	p.A57P	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	178	-			57					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.169G>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	10.68	1.418961	0.25552	.	.	ENSG00000213759	ENST00000446444	T	0.62639	0.01	1.96	-3.91	0.04168	.	0.427258	0.18758	U	0.131963	T	0.65344	0.2682	M	0.62088	1.915	0.09310	N	1	P	0.52316	0.952	P	0.62649	0.905	T	0.59783	-0.7389	10	0.59425	D	0.04	.	4.3374	0.11092	0.0:0.4501:0.204:0.3459	.	57	O75310	UDB11_HUMAN	P	57	ENSP00000387683:A57P	ENSP00000387683:A57P	A	-	1	0	UGT2B11	70114861	0.000000	0.05858	0.010000	0.14722	0.238000	0.25445	-0.710000	0.05024	-1.276000	0.02414	0.184000	0.17185	GCA		0.393	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		17	214	0	0	0	0	17	214				
RXFP1	59350	broad.mit.edu	37	4	159573014	159573014	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:159573014G>A	ENST00000307765.5	+	18	2332	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q	RXFP1_ENST00000460056.2_Missense_Mutation_p.R613Q|RXFP1_ENST00000470033.1_Missense_Mutation_p.R661Q|RXFP1_ENST00000343542.5_Missense_Mutation_p.R646Q|RXFP1_ENST00000448688.2_Missense_Mutation_p.R589Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	694					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGATTCATCGGTTTTGGTAT	0.393																																						uc003ipz.2		NA																	0					0						c.(2080-2082)CGG>CAG		relaxin/insulin-like family peptide receptor 1							105.0	96.0	99.0					4																	159573014		1863	4092	5955	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159573014G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.2081G>A	4.37:g.159573014G>A	ENSP00000303248:p.Arg694Gln					RXFP1_uc011cja.1_Missense_Mutation_p.R589Q|RXFP1_uc010iqo.2_Missense_Mutation_p.R646Q|RXFP1_uc011cjb.1_Missense_Mutation_p.R592Q|RXFP1_uc010iqk.2_Missense_Mutation_p.R562Q|RXFP1_uc011cjc.1_Missense_Mutation_p.R613Q|RXFP1_uc011cjd.1_Missense_Mutation_p.R613Q|RXFP1_uc010iql.2_Missense_Mutation_p.R538Q|RXFP1_uc011cje.1_Missense_Mutation_p.R721Q|RXFP1_uc010iqm.2_Missense_Mutation_p.R661Q|RXFP1_uc011cjf.1_Missense_Mutation_p.R563Q|RXFP1_uc010iqn.2_Missense_Mutation_p.R639Q	p.R694Q	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	18	2163	+	all_hematologic(180;0.24)	Renal(120;0.0854)	694			Cytoplasmic (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.2081G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	6.223	0.409215	0.11812	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.75	3.32	0.38043	.	0.052522	0.85682	N	0.000000	T	0.09202	0.0227	N	0.00128	-2.045	0.26666	N	0.971813	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	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.31336	-0.9947	10	0.10636	T	0.68	.	9.9993	0.41918	0.8631:0.0:0.1369:0.0	.	705;721;589;646;661;613;564;694	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	Q	613;694;589;646;661;564	ENSP00000423306:R613Q;ENSP00000303248:R694Q;ENSP00000414885:R589Q;ENSP00000345889:R646Q;ENSP00000420712:R661Q	ENSP00000303248:R694Q	R	+	2	0	RXFP1	159792464	1.000000	0.71417	0.941000	0.38009	0.794000	0.44872	4.832000	0.62759	0.452000	0.26830	-0.238000	0.12139	CGG		0.393	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		21	54	0	0	0	0	21	54				
FAT1	2195	broad.mit.edu	37	4	187540845	187540845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:187540845C>A	ENST00000441802.2	-	10	7104	c.6895G>T	c.(6895-6897)Gga>Tga	p.G2299*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2299	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGACGTTCCAATTACAGAT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6895-6897)GGA>TGA		FAT tumor suppressor 1 precursor							92.0	93.0	93.0					4																	187540845		1960	4167	6127	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540845C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6895G>T	4.37:g.187540845C>A	ENSP00000406229:p.Gly2299*	HNSCC(5;0.00058)					p.G2299*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7083	-			2299			Extracellular (Potential).|Cadherin 21.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.6895G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	46	12.633771	0.99684	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9919	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	X	2299;2301	.	ENSP00000260147:G2301X	G	-	1	0	FAT1	187777839	1.000000	0.71417	0.242000	0.24170	0.020000	0.10135	7.651000	0.83577	2.721000	0.93114	0.655000	0.94253	GGA		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		82	54	1	0	1.16e-35	3.36e-35	82	54				
DNAH5	1767	broad.mit.edu	37	5	13817734	13817734	+	Missense_Mutation	SNP	C	C	T	rs558294959		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:13817734C>T	ENST00000265104.4	-	42	7015	c.6911G>A	c.(6910-6912)cGg>cAg	p.R2304Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2304	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACGTCCAGCCGACCAAACAT	0.403									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6910-6912)CGG>CAG		dynein, axonemal, heavy chain 5							147.0	135.0	139.0					5																	13817734		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13817734C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6911G>A	5.37:g.13817734C>T	ENSP00000265104:p.Arg2304Gln						p.R2304Q	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			42	6953	-	Lung NSC(4;0.00476)		2304			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6911G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823628	0.96989	.	.	ENSG00000039139	ENST00000265104	D	0.85702	-2.02	5.74	5.74	0.90152	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	L	0.28776	0.89	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	D	0.87651	0.2528	10	0.42905	T	0.14	.	19.9222	0.97091	0.0:1.0:0.0:0.0	.	2304	Q8TE73	DYH5_HUMAN	Q	2304	ENSP00000265104:R2304Q	ENSP00000265104:R2304Q	R	-	2	0	DNAH5	13870734	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	4.073000	0.57570	2.716000	0.92895	0.650000	0.86243	CGG		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		27	48	0	0	0	0	27	48				
MYO10	4651	broad.mit.edu	37	5	16682073	16682073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:16682073C>T	ENST00000513610.1	-	31	4550	c.4096G>A	c.(4096-4098)Gcc>Acc	p.A1366T	MYO10_ENST00000505695.1_Missense_Mutation_p.A705T|MYO10_ENST00000274203.9_Missense_Mutation_p.A723T|MYO10_ENST00000515803.1_Missense_Mutation_p.A705T|MYO10_ENST00000427430.2_Missense_Mutation_p.A723T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1366					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCGTGTCGGCGTTGCAGTGC	0.577																																						uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(4096-4098)GCC>ACC		myosin X							118.0	119.0	119.0					5																	16682073		2129	4232	6361	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16682073C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4096G>A	5.37:g.16682073C>T	ENSP00000421280:p.Ala1366Thr					MYO10_uc011cnb.1_5'UTR|MYO10_uc011cnc.1_Missense_Mutation_p.A245T|MYO10_uc011cnd.1_Missense_Mutation_p.A723T|MYO10_uc011cne.1_Missense_Mutation_p.A723T|MYO10_uc010itx.2_Missense_Mutation_p.A988T	p.A1366T	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			31	4564	-			1366					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.4096G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.627017	0.46840	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.82	5.82	0.92795	Pleckstrin homology-type (1);	.	.	.	.	T	0.66982	0.2845	N	0.16368	0.405	0.58432	D	0.99999	B;B;B	0.22851	0.012;0.019;0.076	B;B;B	0.16289	0.001;0.003;0.015	T	0.62215	-0.6901	9	0.30854	T	0.27	.	13.3146	0.60399	0.0:0.9282:0.0:0.0718	.	245;1006;1366	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	T	1366;705;723;705;723	ENSP00000421280:A1366T;ENSP00000425051:A705T;ENSP00000274203:A723T;ENSP00000421170:A705T;ENSP00000391106:A723T	ENSP00000274203:A723T	A	-	1	0	MYO10	16735073	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.166000	0.42406	2.756000	0.94617	0.655000	0.94253	GCC		0.577	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		22	110	0	0	0	0	22	110				
MCCC2	64087	broad.mit.edu	37	5	70927976	70927976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr5:70927976C>T	ENST00000340941.6	+	8	896	c.767C>T	c.(766-768)tCt>tTt	p.S256F	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.S218F|MCCC2_ENST00000509358.2_Missense_Mutation_p.S256F	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	256	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GAAGAAGTATCTGCTGAGGAT	0.398																																						uc003kbs.3		NA																	0				ovary(1)	1						c.(766-768)TCT>TTT		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						300.0	284.0	289.0					5																	70927976		2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70927976C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.767C>T	5.37:g.70927976C>T	ENSP00000343657:p.Ser256Phe					MCCC2_uc010iyv.1_Missense_Mutation_p.S256F|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.S125F	p.S256F	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	8	905	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	256			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.767C>T	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624404	0.87560	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375;ENST00000509539	D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63	5.16	5.16	0.70880	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.76071	0.987;0.935;0.967	D	0.98847	1.0757	10	0.87932	D	0	-14.893	17.7797	0.88520	0.0:1.0:0.0:0.0	.	256;125;256	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	F	256;256;218;31	ENSP00000343657:S256F;ENSP00000420994:S256F;ENSP00000327308:S218F;ENSP00000425474:S31F	ENSP00000327308:S218F	S	+	2	0	MCCC2	70963732	1.000000	0.71417	0.989000	0.46669	0.871000	0.50021	5.436000	0.66538	2.582000	0.87167	0.555000	0.69702	TCT		0.398	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			18	70	0	0	0	0	18	70				
PRPF4B	8899	broad.mit.edu	37	6	4052307	4052307	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:4052307G>A	ENST00000337659.6	+	10	2391	c.2291G>A	c.(2290-2292)tGt>tAt	p.C764Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.C750Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGCATCTTTGTCTGGTATTC	0.353																																						uc003mvv.2		NA																	0				breast(5)	5						c.(2290-2292)TGT>TAT		serine/threonine-protein kinase PRP4K							96.0	92.0	94.0					6																	4052307		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4052307G>A	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2291G>A	6.37:g.4052307G>A	ENSP00000337194:p.Cys764Tyr					PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	p.C764Y	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			10	2382	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	764			Protein kinase.		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.2291G>A	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855041	0.51376	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.16457	2.34;2.34	5.97	5.97	0.96955	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	0.28333	0.0700	L	0.37800	1.135	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.01972	-1.1237	10	0.87932	D	0	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	764	Q13523	PRP4B_HUMAN	Y	764;750	ENSP00000337194:C764Y;ENSP00000439331:C750Y	ENSP00000337194:C764Y	C	+	2	0	PRPF4B	3997306	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	TGT		0.353	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			20	38	0	0	0	0	20	38				
HIST1H4B	8366	broad.mit.edu	37	6	26027417	26027417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:26027417C>T	ENST00000377364.3	-	1	63	c.64G>A	c.(64-66)Gtg>Atg	p.V22M		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	22					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TCCCGCAGCACTTTTCGGTGA	0.532																																						uc003nfr.2		NA																	0				ovary(2)	2						c.(64-66)GTG>ATG		histone cluster 1, H4b							71.0	64.0	66.0					6																	26027417		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027417C>T	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.64G>A	6.37:g.26027417C>T	ENSP00000366581:p.Val22Met						p.V22M	NM_003544	NP_003535	P62805	H4_HUMAN			1	64	-			22					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.64G>A	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	17.85	3.490655	0.64074	.	.	ENSG00000124529	ENST00000377364	.	.	.	4.65	4.65	0.58169	.	0.000000	0.47455	U	0.000221	T	0.71986	0.3405	.	.	.	0.41644	D	0.989095	.	.	.	.	.	.	T	0.76402	-0.2972	6	0.87932	D	0	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	M	22	.	ENSP00000366581:V22M	V	-	1	0	HIST1H4B	26135396	1.000000	0.71417	0.901000	0.35422	0.010000	0.07245	5.789000	0.69029	2.506000	0.84524	0.563000	0.77884	GTG		0.532	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		10	64	0	0	0	0	10	64				
HIST1H3I	8354	broad.mit.edu	37	6	27839984	27839984	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:27839984T>A	ENST00000328488.2	-	1	115	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					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)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGCTTCTTGACGCCACC	0.672																																						uc003njy.2		NA																	0				ovary(1)	1						c.(109-111)AAG>ATG		histone cluster 1, H3i							35.0	40.0	39.0					6																	27839984		2202	4298	6500	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839984T>A	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.110A>T	6.37:g.27839984T>A	ENSP00000329554:p.Lys37Met						p.K37M	NM_003533	NP_003524	P68431	H31_HUMAN			1	116	-			37					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.110A>T	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163034	0.38217	.	.	ENSG00000182572	ENST00000328488	T	0.56776	0.44	4.12	4.12	0.48240	.	.	.	.	.	T	0.57666	0.2069	.	.	.	0.40285	D	0.97844	.	.	.	.	.	.	T	0.64567	-0.6377	6	0.87932	D	0	.	13.3331	0.60500	0.0:0.0:0.0:1.0	.	.	.	.	M	37	ENSP00000329554:K37M	ENSP00000329554:K37M	K	-	2	0	HIST1H3I	27947963	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	5.859000	0.69539	2.086000	0.62901	0.528000	0.53228	AAG		0.672	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		16	68	0	0	0	0	16	68				
MAPK13	5603	broad.mit.edu	37	6	36106785	36106785	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:36106785T>C	ENST00000211287.4	+	11	1233	c.971T>C	c.(970-972)tTt>tCt	p.F324S	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.F314S|MAPK13_ENST00000373759.1_3'UTR|Z95152.1_ENST00000408816.1_RNA	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	324					cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CAGCAGCCGTTTGATGATTCC	0.602																																						uc003ols.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(970-972)TTT>TCT		mitogen-activated protein kinase 13							52.0	54.0	54.0					6																	36106785		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36106785T>C	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.971T>C	6.37:g.36106785T>C	ENSP00000211287:p.Phe324Ser					MAPK13_uc003olt.2_RNA	p.F324S	NM_002754	NP_002745	O15264	MK13_HUMAN			11	1069	+			324					O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.971T>C	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877522	0.33162	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.59906	0.23;0.23	5.16	3.97	0.46021	Protein kinase-like domain (1);	0.328997	0.26126	N	0.026194	T	0.39860	0.1094	M	0.75085	2.285	0.80722	D	1	B	0.28933	0.228	B	0.29077	0.098	T	0.55573	-0.8120	10	0.87932	D	0	-3.2106	5.2613	0.15576	0.2593:0.0866:0.0:0.654	.	324	O15264	MK13_HUMAN	S	314;324;269	ENSP00000362866:F314S;ENSP00000211287:F324S	ENSP00000211287:F324S	F	+	2	0	MAPK13	36214763	1.000000	0.71417	0.004000	0.12327	0.238000	0.25445	5.581000	0.67471	1.933000	0.56026	0.454000	0.30748	TTT		0.602	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			15	39	0	0	0	0	15	39				
NR2E1	7101	broad.mit.edu	37	6	108502785	108502785	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:108502785C>T	ENST00000368986.4	+	8	1633	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	NR2E1_ENST00000368983.3_Missense_Mutation_p.R346W	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	309	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GAGAAGTTTCCGGAATGCTGC	0.483																																						uc003psg.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(925-927)CGG>TGG		nuclear receptor subfamily 2, group E, member 1							121.0	114.0	117.0					6																	108502785		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108502785C>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.925C>T	6.37:g.108502785C>T	ENSP00000357982:p.Arg309Trp						p.R309W	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	8	1680	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	309			Ligand-binding (By similarity).		Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.925C>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110276	0.77210	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96913	-4.17;-4.17	5.76	3.87	0.44632	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.157672	0.64402	D	0.000016	D	0.96947	0.9003	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.97311	0.9937	10	0.87932	D	0	.	11.0671	0.47982	0.2565:0.6195:0.124:0.0	.	309	Q9Y466	NR2E1_HUMAN	W	309;346	ENSP00000357982:R309W;ENSP00000357979:R346W	ENSP00000357979:R346W	R	+	1	2	NR2E1	108609478	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.637000	0.54324	1.426000	0.47256	-0.169000	0.13324	CGG		0.483	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			16	60	0	0	0	0	16	60				
PDE10A	10846	broad.mit.edu	37	6	165806230	165806230	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr6:165806230G>A	ENST00000366882.1	-	17	1685	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	PDE10A_ENST00000354448.4_Missense_Mutation_p.R511W|PDE10A_ENST00000539869.2_Missense_Mutation_p.R521W			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	511					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TAAGGAACCCGCCGATAGTTC	0.428																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(1531-1533)CGG>TGG		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						133.0	117.0	122.0					6																	165806230		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165806230G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1531C>T	6.37:g.165806230G>A	ENSP00000355847:p.Arg511Trp					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R441W|PDE10A_uc003quo.2_Missense_Mutation_p.R521W	p.R511W	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	17	1772	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	511					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1531C>T		.	.	.	.	.	.	.	.	.	.	G	17.48	3.399852	0.62177	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.77229	-1.08;-1.08	5.43	3.61	0.41365	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	M	0.68593	2.085	0.51767	D	0.999935	D;D	0.76494	0.994;0.999	P;P	0.62740	0.711;0.906	T	0.81807	-0.0763	10	0.72032	D	0.01	.	12.1483	0.54036	0.0:0.1254:0.7315:0.1431	.	521;511	Q9ULW9;Q9Y233	.;PDE10_HUMAN	W	511;539;521;511;510	ENSP00000355847:R511W;ENSP00000346435:R511W	ENSP00000341187:R521W	R	-	1	2	PDE10A	165726220	1.000000	0.71417	0.628000	0.29241	0.577000	0.36160	5.910000	0.69931	0.625000	0.30304	0.585000	0.79938	CGG		0.428	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			6	41	0	0	0	0	6	41				
ZFAND2A	90637	broad.mit.edu	37	7	1197817	1197817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:1197817G>A	ENST00000316495.3	-	2	291	c.32C>T	c.(31-33)tCa>tTa	p.S11L	ZFAND2A_ENST00000478137.1_5'Flank|AC091729.9_ENST00000422230.1_RNA|AC091729.9_ENST00000413706.1_RNA|AC091729.9_ENST00000423008.1_RNA|ZFAND2A_ENST00000401903.1_Missense_Mutation_p.S11L	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	11					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		AGTCTTTTCTGAACAATGCTT	0.398																																						uc003skc.2		NA																	0				ovary(1)	1						c.(31-33)TCA>TTA		zinc finger, AN1-type domain 2A							250.0	265.0	260.0					7																	1197817		2203	4300	6503	SO:0001583	missense	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1197817G>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.32C>T	7.37:g.1197817G>A	ENSP00000314619:p.Ser11Leu					ZFAND2A_uc003skd.3_Missense_Mutation_p.S11L|uc003skf.1_5'Flank	p.S11L	NM_182491	NP_872297	Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	2	333	-		Ovarian(82;0.11)	11			AN1-type 1.		A4D220	Missense_Mutation	SNP	ENST00000316495.3	37	c.32C>T	CCDS5323.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075414	0.94000	.	.	ENSG00000178381	ENST00000401903;ENST00000397083;ENST00000316495	T;T;T	0.49432	0.78;0.78;0.78	5.21	5.21	0.72293	Zinc finger, AN1-type (4);	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.93898	3.47	0.80722	D	1	D;D	0.67145	0.987;0.996	D;D	0.70016	0.949;0.967	T	0.83214	-0.0072	10	0.87932	D	0	-17.7692	16.2663	0.82581	0.0:0.0:1.0:0.0	.	11;11	A8MYA3;Q8N6M9	.;ZFN2A_HUMAN	L	11	ENSP00000386031:S11L;ENSP00000380273:S11L;ENSP00000314619:S11L	ENSP00000314619:S11L	S	-	2	0	ZFAND2A	1164343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.177000	0.71961	2.436000	0.82500	0.655000	0.94253	TCA		0.398	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		8	398	0	0	0	0	8	398				
ZNF12	7559	broad.mit.edu	37	7	6731206	6731206	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:6731206T>C	ENST00000405858.1	-	5	1908	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	ZNF12_ENST00000404360.1_Missense_Mutation_p.Y382C|ZNF12_ENST00000342651.5_Missense_Mutation_p.Y418C|AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	456					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATGAGTTCTATAATGTACAGT	0.433																																						uc003sqt.1		NA																	0					0						c.(1366-1368)TAT>TGT		zinc finger protein 12 isoform a							73.0	80.0	77.0					7																	6731206		2188	4297	6485	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731206T>C	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1367A>G	7.37:g.6731206T>C	ENSP00000385939:p.Tyr456Cys					ZNF12_uc011jxa.1_Missense_Mutation_p.Y294C|ZNF12_uc003sqs.1_Missense_Mutation_p.Y418C	p.Y456C	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1921	-		Ovarian(82;0.0776)	456			C2H2-type 7.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1367A>G	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423992	0.43020	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.17691	2.26;2.26;2.26	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37261	N	0.002168	T	0.25121	0.0610	N	0.19112	0.55	0.09310	N	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.976	T	0.02829	-1.1105	10	0.87932	D	0	.	11.5083	0.50479	0.0:0.0:0.0:1.0	.	456;418	P17014;P17014-5	ZNF12_HUMAN;.	C	382;456;418;514;418	ENSP00000384405:Y382C;ENSP00000385939:Y456C;ENSP00000344745:Y418C	ENSP00000331039:Y418C	Y	-	2	0	ZNF12	6697731	0.007000	0.16637	0.948000	0.38648	0.998000	0.95712	0.912000	0.28597	2.039000	0.60335	0.533000	0.62120	TAT		0.433	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		17	49	0	0	0	0	17	49				
HOXA11	3207	broad.mit.edu	37	7	27224479	27224479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:27224479C>A	ENST00000006015.3	-	1	356	c.285G>T	c.(283-285)caG>caT	p.Q95H	HOXA11-AS_ENST00000479766.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	95					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CGCTGGGCGCCTGCAGGCAGT	0.657			T	NUP98	CML																																	uc003syx.2		NA		Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				lung(1)|breast(1)	2						c.(283-285)CAG>CAT		homeobox A11							34.0	39.0	37.0					7																	27224479		2203	4300	6503	SO:0001583	missense	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27224479C>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.285G>T	7.37:g.27224479C>A	ENSP00000006015:p.Gln95His					HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	p.Q95H	NM_005523	NP_005514	P31270	HXA11_HUMAN			1	357	-			95					A4D190	Missense_Mutation	SNP	ENST00000006015.3	37	c.285G>T	CCDS5411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.78|12.78	2.040454|2.040454	0.35989|0.35989	.|.	.|.	ENSG00000005073|ENSG00000005073	ENST00000006015|ENST00000517402	T|.	0.46063|.	0.88|.	5.49|5.49	4.57|4.57	0.56435|0.56435	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);|.	0.125201|.	0.56097|.	D|.	0.000030|.	T|T	0.60676|0.60676	0.2287|0.2287	M|M	0.71036|0.71036	2.16|2.16	0.33065|0.33065	D|D	0.534557|0.534557	P|.	0.43885|.	0.82|.	P|.	0.45998|.	0.5|.	T|T	0.69168|0.69168	-0.5216|-0.5216	10|5	0.72032|.	D|.	0.01|.	.|.	9.1221|9.1221	0.36793|0.36793	0.2255:0.577:0.1975:0.0|0.2255:0.577:0.1975:0.0	.|.	95|.	P31270|.	HXA11_HUMAN|.	H|M	95|65	ENSP00000006015:Q95H|.	ENSP00000006015:Q95H|.	Q|R	-|-	3|2	2|0	HOXA11|HOXA11	27191004|27191004	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.396000|0.396000	0.20867|0.20867	2.569000|2.569000	0.86673|0.86673	0.650000|0.650000	0.86243|0.86243	CAG|AGG		0.657	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			15	54	1	0	6.72e-11	1.9e-10	15	54				
PCLO	27445	broad.mit.edu	37	7	82585666	82585666	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:82585666A>G	ENST00000333891.9	-	5	4940	c.4603T>C	c.(4603-4605)Tca>Cca	p.S1535P	PCLO_ENST00000423517.2_Missense_Mutation_p.S1535P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCTTGATGAGCCAACACTA	0.403																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(4603-4605)TCA>CCA		piccolo isoform 1							135.0	123.0	127.0					7																	82585666		1914	4149	6063	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585666A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4603T>C	7.37:g.82585666A>G	ENSP00000334319:p.Ser1535Pro					PCLO_uc003uhv.2_Missense_Mutation_p.S1535P	p.S1535P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4892	-			1466						Missense_Mutation	SNP	ENST00000333891.9	37	c.4603T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.051715	0.36181	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20200	2.09;2.09	5.47	5.47	0.80525	.	.	.	.	.	T	0.42698	0.1214	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.32613	-0.9900	9	0.87932	D	0	.	15.5451	0.76093	1.0:0.0:0.0:0.0	.	1535;1535	Q9Y6V0-5;Q9Y6V0-6	.;.	P	1466;1535;1535	ENSP00000334319:S1535P;ENSP00000388393:S1535P	ENSP00000334319:S1535P	S	-	1	0	PCLO	82423602	1.000000	0.71417	0.405000	0.26409	0.991000	0.79684	7.144000	0.77357	2.076000	0.62316	0.533000	0.62120	TCA		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	83	0	0	0	0	6	83				
ZNF804B	219578	broad.mit.edu	37	7	88964789	88964789	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:88964789C>T	ENST00000333190.4	+	4	3102	c.2493C>T	c.(2491-2493)aaC>aaT	p.N831N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	831							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGATTCTAACTCACAGATTT	0.373										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2491-2493)AAC>AAT		zinc finger protein 804B							50.0	50.0	50.0					7																	88964789		2202	4296	6498	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88964789C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2493C>T	7.37:g.88964789C>T		HNSCC(36;0.09)					p.N831N	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3031	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		831					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2493C>T	CCDS5613.1																																																																																				0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	43	0	0	0	0	14	43				
MUC17	140453	broad.mit.edu	37	7	100678303	100678303	+	Silent	SNP	A	A	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:100678303A>C	ENST00000306151.4	+	3	3670	c.3606A>C	c.(3604-3606)ccA>ccC	p.P1202P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1202	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P1202P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTCCTCCAACTGCTGAAG	0.522																																						uc003uxp.1		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3604-3606)CCA>CCC		mucin 17 precursor							300.0	270.0	280.0					7																	100678303		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678303A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3606A>C	7.37:g.100678303A>C						MUC17_uc010lho.1_RNA	p.P1202P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3659	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1202			Extracellular (Potential).|Ser-rich.|18.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3606A>C	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		56	613	0	0	0	0	56	613				
FBXL13	222235	broad.mit.edu	37	7	102453908	102453908	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:102453908A>G	ENST00000313221.4	-	20	2515	c.2089T>C	c.(2089-2091)Ttt>Ctt	p.F697L	FBXL13_ENST00000379306.3_Missense_Mutation_p.F415L|FBXL13_ENST00000379305.3_Missense_Mutation_p.F669L|FBXL13_ENST00000455112.2_Missense_Mutation_p.F652L|FBXL13_ENST00000456695.1_Missense_Mutation_p.F415L|FBXL13_ENST00000393772.2_Missense_Mutation_p.F669L|FBXL13_ENST00000436908.1_Missense_Mutation_p.F697L|FBXL13_ENST00000379308.3_Missense_Mutation_p.F652L	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	697										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATAGCCAAACCAACGTGGA	0.408																																						uc003vaq.2		NA																	0					0						c.(2089-2091)TTT>CTT		F-box and leucine-rich repeat protein 13 isoform							298.0	257.0	271.0					7																	102453908		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102453908A>G	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.2089T>C	7.37:g.102453908A>G	ENSP00000321927:p.Phe697Leu					FBXL13_uc010liq.1_Missense_Mutation_p.F230L|FBXL13_uc010lir.1_Missense_Mutation_p.F652L|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.F669L|FAM185A_uc011klh.1_Intron	p.F697L	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			20	2516	-			697					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.2089T>C	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287233	0.40494	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.07021	3.36;3.39;3.23;3.36;3.26;3.26;3.23;3.39	5.79	4.65	0.58169	.	0.000000	0.64402	D	0.000008	T	0.07234	0.0183	L	0.38175	1.15	0.26175	N	0.979809	B;P;B;B	0.40107	0.084;0.703;0.018;0.031	B;B;B;B	0.37780	0.022;0.258;0.022;0.006	T	0.27226	-1.0080	10	0.34782	T	0.22	.	9.3228	0.37975	0.9164:0.0:0.0836:0.0	.	652;415;669;697	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	L	669;652;415;418;669;697;697;415;652	ENSP00000377367:F669L;ENSP00000368610:F652L;ENSP00000368608:F415L;ENSP00000368607:F669L;ENSP00000388608:F697L;ENSP00000321927:F697L;ENSP00000409716:F415L;ENSP00000391550:F652L	ENSP00000321927:F697L	F	-	1	0	FBXL13	102241144	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	2.004000	0.40854	2.205000	0.71048	0.482000	0.46254	TTT		0.408	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		12	117	0	0	0	0	12	117				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000393447.4_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393449.1_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		11	26	0	0	0	0	11	26				
AOC1	26	broad.mit.edu	37	7	150556008	150556008	+	Silent	SNP	C	C	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:150556008C>T	ENST00000493429.1	+	5	2312	c.1728C>T	c.(1726-1728)taC>taT	p.Y576Y	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.Y576Y|AOC1_ENST00000467291.1_Silent_p.Y576Y|AOC1_ENST00000416793.2_Silent_p.Y576Y			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	576					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TGCCTAAGTACCTGCTCTTTA	0.652																																						uc003why.1		NA																	0				ovary(2)|breast(2)|skin(2)	6						c.(1726-1728)TAC>TAT		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						19.0	22.0	21.0					7																	150556008		1908	4114	6022	SO:0001819	synonymous_variant	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150556008C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1728C>T	7.37:g.150556008C>T						ABP1_uc003whz.1_Silent_p.Y576Y|ABP1_uc003wia.1_Silent_p.Y576Y	p.Y576Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	5946	+	all_neural(206;0.219)		576					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.1728C>T	CCDS43679.1																																																																																				0.652	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		5	36	0	0	0	0	5	36				
DPP6	1804	broad.mit.edu	37	7	154172049	154172049	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:154172049G>T	ENST00000377770.3	+	3	525	c.384G>T	c.(382-384)aaG>aaT	p.K128N	DPP6_ENST00000404039.1_Missense_Mutation_p.K64N|DPP6_ENST00000427557.1_Missense_Mutation_p.K66N|DPP6_ENST00000406326.1_Missense_Mutation_p.K128N|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.K66N			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	128					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGTCTCAAAAGAAGAAGGTCA	0.378																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(382-384)AAG>AAT		dipeptidyl-peptidase 6 isoform 1							82.0	79.0	80.0					7																	154172049		1875	4099	5974	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154172049G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.384G>T	7.37:g.154172049G>T	ENSP00000367001:p.Lys128Asn					DPP6_uc003wli.2_Missense_Mutation_p.K64N|DPP6_uc003wlj.2_Missense_Mutation_p.K128N|DPP6_uc010lqh.1_Missense_Mutation_p.K66N|DPP6_uc003wlm.2_Missense_Mutation_p.K66N|DPP6_uc011kvq.1_Missense_Mutation_p.K66N	p.K128N	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		3	513	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	128			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.384G>T		.	.	.	.	.	.	.	.	.	.	G	17.86	3.493183	0.64186	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.16	4.26	0.50523	.	0.046275	0.85682	D	0.000000	T	0.57799	0.2078	.	.	.	0.44852	D	0.997869	B;B;D;D;P;D	0.89917	0.105;0.214;1.0;1.0;0.724;1.0	B;B;D;D;P;D	0.70716	0.038;0.118;0.966;0.97;0.473;0.945	T	0.51663	-0.8677	9	0.23302	T	0.38	-25.7203	8.9322	0.35677	0.1:0.0:0.9:0.0	.	66;66;66;128;128;64	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	N	64;128;128;66;66	ENSP00000385578:K64N;ENSP00000384393:K128N;ENSP00000367001:K128N;ENSP00000328226:K66N;ENSP00000397303:K66N	ENSP00000328226:K66N	K	+	3	2	DPP6	153802982	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.735000	0.55044	2.533000	0.85409	0.650000	0.86243	AAG		0.378	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		17	48	1	0	3.99e-14	1.14e-13	17	48				
DPP6	1804	broad.mit.edu	37	7	154561189	154561189	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr7:154561189G>A	ENST00000377770.3	+	9	1087	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	DPP6_ENST00000404039.1_Missense_Mutation_p.A252T|DPP6_ENST00000427557.1_Missense_Mutation_p.A209T|DPP6_ENST00000332007.3_Missense_Mutation_p.A254T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	316					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACTCGCCTACGCCGCCATCAA	0.522																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(946-948)GCC>ACC		dipeptidyl-peptidase 6 isoform 1							73.0	76.0	75.0					7																	154561189		2021	4169	6190	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561189G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.946G>A	7.37:g.154561189G>A	ENSP00000367001:p.Ala316Thr					DPP6_uc003wli.2_Missense_Mutation_p.A252T|DPP6_uc003wlm.2_Missense_Mutation_p.A254T|DPP6_uc011kvq.1_Missense_Mutation_p.A209T	p.A316T	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1075	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	316			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.946G>A		.	.	.	.	.	.	.	.	.	.	G	17.16	3.319554	0.60524	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.28	5.28	0.74379	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.161204	0.56097	D	0.000039	T	0.52354	0.1729	M	0.82716	2.605	0.47949	D	0.999558	P;D;D;D	0.69078	0.948;0.997;0.996;0.996	P;P;P;P	0.58130	0.763;0.742;0.833;0.833	T	0.55049	-0.8201	10	0.41790	T	0.15	-35.9262	13.8468	0.63472	0.0:0.0:0.8473:0.1527	.	209;254;316;252	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	T	252;316;254;209	ENSP00000385578:A252T;ENSP00000367001:A316T;ENSP00000328226:A254T;ENSP00000397303:A209T	ENSP00000328226:A254T	A	+	1	0	DPP6	154192122	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	2.578000	0.46051	2.469000	0.83416	0.655000	0.94253	GCC		0.522	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		12	65	0	0	0	0	12	65				
IDO1	3620	broad.mit.edu	37	8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	rs200244502		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.2_ENST00000520185.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GGAGATGTCCGTAAGGTTTGG	0.393																																						uc003xnm.2		NA																	0				central_nervous_system(2)	2						c.(298-300)CGT>CAT		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)	G	HIS/ARG	0,3838		0,0,1919	117.0	110.0	112.0		299	1.4	0.0	8		112	1,8277		0,1,4138	yes	missense	IDO1	NM_002164.5	29	0,1,6057	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	100/404	39775722	1,12115	1919	4139	6058	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39775722G>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.299G>A	8.37:g.39775722G>A	ENSP00000430950:p.Arg100His					IDO1_uc003xnn.2_RNA	p.R100H	NM_002164	NP_002155	P14902	I23O1_HUMAN			3	413	+			100					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.299G>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420693	0.42918	0.0	1.21E-4	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.45276	0.9;0.9;0.9	5.65	1.44	0.22558	.	0.907386	0.09317	N	0.818769	T	0.43255	0.1239	M	0.79475	2.455	0.09310	N	1	D	0.54047	0.964	P	0.45377	0.478	T	0.44360	-0.9333	9	.	.	.	-1.485	1.7288	0.02928	0.1757:0.2276:0.4465:0.1502	.	100	P14902	I23O1_HUMAN	H	100	ENSP00000428716:R100H;ENSP00000430505:R100H;ENSP00000430950:R100H	.	R	+	2	0	IDO1	39894879	0.000000	0.05858	0.003000	0.11579	0.237000	0.25408	0.234000	0.17930	0.751000	0.32900	0.585000	0.79938	CGT		0.393	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		16	80	0	0	0	0	16	80				
SLCO5A1	81796	broad.mit.edu	37	8	70674022	70674022	+	Silent	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:70674022A>G	ENST00000260126.4	-	3	1702	c.996T>C	c.(994-996)aaT>aaC	p.N332N	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.N332N|SLCO5A1_ENST00000530307.1_Silent_p.N332N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGTGAACAGGATTTCTGGGAT	0.378																																						uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(994-996)AAT>AAC		solute carrier organic anion transporter family,							86.0	85.0	85.0					8																	70674022		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70674022A>G	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.996T>C	8.37:g.70674022A>G						SLCO5A1_uc010lzb.2_Silent_p.N332N|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Silent_p.N332N|SLCO5A1_uc010lzc.2_Silent_p.N332N	p.N332N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		3	1703	-	Breast(64;0.0654)		332			Extracellular (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.996T>C	CCDS6205.1																																																																																				0.378	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		4	55	0	0	0	0	4	55				
SNTB1	6641	broad.mit.edu	37	8	121706116	121706116	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:121706116T>C	ENST00000395601.3	-	3	1018	c.604A>G	c.(604-606)Aag>Gag	p.K202E	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.K202E	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	202	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCCTTTCTTCACATAGGGC	0.517																																						uc010mdg.2		NA																	0				skin(5)	5						c.(604-606)AAG>GAG		basic beta 1 syntrophin							87.0	92.0	90.0					8																	121706116		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121706116T>C	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.604A>G	8.37:g.121706116T>C	ENSP00000378965:p.Lys202Glu					SNTB1_uc003ype.2_Missense_Mutation_p.K202E	p.K202E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	830	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		202			PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.604A>G	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	T	32	5.153174	0.94645	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.59638	0.25;0.25	5.44	5.44	0.79542	PDZ/DHR/GLGF (1);Pleckstrin homology domain (2);	0.047720	0.85682	D	0.000000	T	0.61438	0.2347	L	0.41961	1.31	0.80722	D	1	P;P	0.52692	0.955;0.868	P;B	0.52267	0.694;0.443	T	0.61686	-0.7012	10	0.44086	T	0.13	.	15.6515	0.77099	0.0:0.0:0.0:1.0	.	202;202	Q13884;Q13884-2	SNTB1_HUMAN;.	E	202	ENSP00000378965:K202E;ENSP00000431124:K202E	ENSP00000378965:K202E	K	-	1	0	SNTB1	121775297	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.212000	0.77941	2.270000	0.75569	0.533000	0.62120	AAG		0.517	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		21	86	0	0	0	0	21	86				
LRRC6	23639	broad.mit.edu	37	8	133596002	133596002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr8:133596002G>A	ENST00000519595.1	-	11	1263	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	LRRC6_ENST00000518642.1_Nonsense_Mutation_p.Q386*|LRRC6_ENST00000250173.1_Nonsense_Mutation_p.Q389*			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	389	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AATGCTCGCTGACCACCTGTG	0.378																																						uc003ytk.2		NA																	0				ovary(1)|kidney(1)	2						c.(1165-1167)CAG>TAG		leucine rich repeat containing 6							168.0	147.0	154.0					8																	133596002		2203	4300	6503	SO:0001587	stop_gained	23639					cytoplasm		g.chr8:133596002G>A	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1165C>T	8.37:g.133596002G>A	ENSP00000429791:p.Gln389*					LRRC6_uc003ytl.2_RNA	p.Q389*	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		11	1239	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		389			CS.		Q13648|Q4G183	Nonsense_Mutation	SNP	ENST00000519595.1	37	c.1165C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.334524	0.81801	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	.	.	.	4.52	1.39	0.22231	.	1.528180	0.03879	N	0.276807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	1.3091	6.5002	0.22164	0.0:0.3125:0.4254:0.2621	.	.	.	.	X	389;129;386;389;389	.	ENSP00000250173:Q389X	Q	-	1	0	LRRC6	133665184	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	0.263000	0.18478	0.155000	0.19261	0.650000	0.86243	CAG		0.378	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		33	42	0	0	0	0	33	42				
NFX1	4799	broad.mit.edu	37	9	33294473	33294473	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:33294473T>A	ENST00000379540.3	+	2	143	c.81T>A	c.(79-81)aaT>aaA	p.N27K	NFX1_ENST00000379521.4_Missense_Mutation_p.N27K|NFX1_ENST00000318524.6_Missense_Mutation_p.N27K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	27					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGAAAAAAAATTCTGGTCTAA	0.383																																						uc003zsq.2		NA																	0				ovary(1)	1						c.(79-81)AAT>AAA		nuclear transcription factor, X-box binding 1							92.0	103.0	99.0					9																	33294473		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33294473T>A	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.81T>A	9.37:g.33294473T>A	ENSP00000368856:p.Asn27Lys					SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.N27K|NFX1_uc003zso.2_Missense_Mutation_p.N27K|NFX1_uc003zsp.1_Missense_Mutation_p.N27K|NFX1_uc010mjr.1_Missense_Mutation_p.N27K|NFX1_uc003zsr.2_Missense_Mutation_p.N27K	p.N27K	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	2	142	+			27					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.81T>A	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	T	5.618	0.298686	0.10622	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.22134	2.3;1.98;1.97	5.21	2.8	0.32819	.	0.391637	0.26187	N	0.025828	T	0.14184	0.0343	L	0.29908	0.895	0.22701	N	0.998831	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.003;0.001;0.004;0.003	T	0.20174	-1.0283	10	0.49607	T	0.09	.	7.7052	0.28646	0.1266:0.0768:0.0:0.7965	.	27;27;27;27	F5GXD0;Q12986;Q12986-2;Q12986-3	.;NFX1_HUMAN;.;.	K	27	ENSP00000368856:N27K;ENSP00000368836:N27K;ENSP00000317695:N27K	ENSP00000317695:N27K	N	+	3	2	NFX1	33284473	1.000000	0.71417	0.995000	0.50966	0.214000	0.24535	1.198000	0.32223	-0.007000	0.14345	-1.525000	0.00928	AAT		0.383	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			84	104	0	0	0	0	84	104				
VPS13A	23230	broad.mit.edu	37	9	79955422	79955422	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:79955422G>A	ENST00000360280.3	+	50	7242	c.6982G>A	c.(6982-6984)Gct>Act	p.A2328T	VPS13A_ENST00000376634.4_Missense_Mutation_p.A2328T|VPS13A_ENST00000357409.5_Missense_Mutation_p.A2328T|VPS13A_ENST00000376636.3_Missense_Mutation_p.A2289T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2328					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATCAGTGGCTGAAGAAGG	0.338																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(6982-6984)GCT>ACT		vacuolar protein sorting 13A isoform A							87.0	91.0	89.0					9																	79955422		2203	4295	6498	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79955422G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6982G>A	9.37:g.79955422G>A	ENSP00000353422:p.Ala2328Thr					VPS13A_uc004akp.3_Missense_Mutation_p.A2328T|VPS13A_uc004akq.3_Missense_Mutation_p.A2328T|VPS13A_uc004aks.2_Missense_Mutation_p.A2289T	p.A2328T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			50	7242	+			2328					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6982G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777450	0.31411	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.6	-0.598	0.11649	Vacuolar protein sorting-associated protein (1);	0.508110	0.21995	N	0.066098	T	0.13415	0.0325	N	0.17474	0.49	0.80722	D	1	B;B;B;B	0.18610	0.001;0.029;0.011;0.011	B;B;B;B	0.20955	0.003;0.032;0.014;0.014	T	0.16660	-1.0395	10	0.10111	T	0.7	.	6.4454	0.21873	0.1935:0.0:0.5419:0.2645	.	2289;2328;2328;2328	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	T	2328;2289;2328;2328	ENSP00000365821:A2328T;ENSP00000365823:A2289T;ENSP00000353422:A2328T;ENSP00000349985:A2328T	ENSP00000349985:A2328T	A	+	1	0	VPS13A	79145242	1.000000	0.71417	0.977000	0.42913	0.536000	0.34869	1.244000	0.32778	0.086000	0.17137	0.650000	0.86243	GCT		0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		17	56	0	0	0	0	17	56				
OR1L8	138881	broad.mit.edu	37	9	125330736	125330736	+	Silent	SNP	G	G	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:125330736G>T	ENST00000304865.2	-	1	102	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGACACTGCTGGTGTGGTTGA	0.448																																						uc004bmp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(19-21)ACC>ACA		olfactory receptor, family 1, subfamily L,							119.0	147.0	138.0					9																	125330736		2203	4300	6503	SO:0001819	synonymous_variant	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330736G>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.21C>A	9.37:g.125330736G>T							p.T7T	NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN			1	21	-			7			Extracellular (Potential).		A3KFM3|B9EIR6|Q6IF15|Q96R79	Silent	SNP	ENST00000304865.2	37	c.21C>A	CCDS35124.1																																																																																				0.448	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			7	54	1	0	2.74e-10	7.72e-10	7	54				
ODF2	4957	broad.mit.edu	37	9	131247076	131247076	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:131247076A>T	ENST00000434106.3	+	12	1564	c.1201A>T	c.(1201-1203)Agc>Tgc	p.S401C	ODF2_ENST00000372807.5_Missense_Mutation_p.S396C|ODF2_ENST00000393527.3_Missense_Mutation_p.S377C|ODF2_ENST00000604420.1_Missense_Mutation_p.S401C|ODF2_ENST00000448249.3_Missense_Mutation_p.S320C|ODF2_ENST00000546203.1_Missense_Mutation_p.S382C|ODF2_ENST00000444119.2_Missense_Mutation_p.S377C|ODF2_ENST00000372814.3_Missense_Mutation_p.S445C|ODF2_ENST00000351030.3_Missense_Mutation_p.S396C|ODF2_ENST00000372791.3_Missense_Mutation_p.S382C|ODF2_ENST00000393533.2_Missense_Mutation_p.S401C	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	401					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGACAAAGAGAGCTTGAAGAA	0.577																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(1201-1203)AGC>TGC		outer dense fiber of sperm tails 2 isoform 1							95.0	75.0	82.0					9																	131247076		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131247076A>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1201A>T	9.37:g.131247076A>T	ENSP00000403453:p.Ser401Cys					ODF2_uc011maz.1_Missense_Mutation_p.S401C|ODF2_uc010myb.2_Missense_Mutation_p.S377C|ODF2_uc011mbb.1_Missense_Mutation_p.S335C|ODF2_uc011mbc.1_Missense_Mutation_p.S320C|ODF2_uc004bva.2_Missense_Mutation_p.S354C|ODF2_uc004bvb.2_Missense_Mutation_p.S377C|ODF2_uc011mbe.1_Missense_Mutation_p.S396C|ODF2_uc004bvc.2_Missense_Mutation_p.S377C|ODF2_uc010myc.2_Missense_Mutation_p.S344C|ODF2_uc011mbf.1_Missense_Mutation_p.S382C|ODF2_uc004bvd.3_Missense_Mutation_p.S401C|ODF2_uc004bve.2_Missense_Mutation_p.S382C|uc004bvg.2_5'Flank	p.S401C	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			12	1512	+			401			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1201A>T	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178013	0.38511	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.85;1.84;1.85;1.42;1.43;1.44	5.14	-5.95	0.02241	.	1.022910	0.07772	N	0.951898	T	0.26085	0.0636	L	0.29908	0.895	0.32892	D	0.511948	B;P;P;P;P;P;P;B;P;P	0.42123	0.164;0.771;0.643;0.606;0.606;0.606;0.771;0.415;0.771;0.606	B;P;B;B;B;B;P;B;P;B	0.49276	0.163;0.605;0.35;0.38;0.371;0.371;0.487;0.163;0.605;0.402	T	0.51236	-0.8731	10	0.62326	D	0.03	-1.3354	6.384	0.21550	0.1578:0.0:0.4357:0.4065	.	382;396;320;335;401;445;396;382;401;377	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	C	401;445;396;401;377;320;382;382	ENSP00000377166:S401C;ENSP00000361901:S445C;ENSP00000342581:S396C;ENSP00000361882:S401C;ENSP00000307781:S377C;ENSP00000396687:S320C;ENSP00000437579:S382C;ENSP00000361877:S382C	ENSP00000307781:S377C	S	+	1	0	ODF2	130286897	1.000000	0.71417	0.184000	0.23157	0.342000	0.28953	1.668000	0.37481	-0.943000	0.03691	-0.441000	0.05720	AGC		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			5	16	0	0	0	0	5	16				
SNAPC4	6621	broad.mit.edu	37	9	139273385	139273385	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr9:139273385G>A	ENST00000298532.2	-	21	3262	c.2894C>T	c.(2893-2895)aCt>aTt	p.T965I		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGAGCCAGAAGTGCCAGGTTT	0.667																																						uc004chh.2		NA																	0					0						c.(2893-2895)ACT>ATT		small nuclear RNA activating complex,							18.0	21.0	20.0					9																	139273385		2193	4296	6489	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273385G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2894C>T	9.37:g.139273385G>A	ENSP00000298532:p.Thr965Ile						p.T965I	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	2903	-		Myeloproliferative disorder(178;0.0511)	965			Pro-rich.			Missense_Mutation	SNP	ENST00000298532.2	37	c.2894C>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311940	0.23821	.	.	ENSG00000165684	ENST00000298532	T	0.24350	1.86	3.3	1.13	0.20643	.	3.668210	0.00664	N	0.000604	T	0.24736	0.0600	L	0.43152	1.355	0.09310	N	1	P	0.43826	0.818	B	0.39419	0.299	T	0.27938	-1.0059	10	0.49607	T	0.09	-0.2399	7.1304	0.25497	0.1141:0.0:0.7046:0.1814	.	965	Q5SXM2	SNPC4_HUMAN	I	965	ENSP00000298532:T965I	ENSP00000298532:T965I	T	-	2	0	SNAPC4	138393206	0.005000	0.15991	0.002000	0.10522	0.153000	0.21895	1.021000	0.30040	0.596000	0.29794	0.462000	0.41574	ACT		0.667	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		14	23	0	0	0	0	14	23				
MAGEB10	139422	broad.mit.edu	37	X	27839869	27839869	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:27839869T>A	ENST00000356790.2	+	3	691	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	149	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGAGCCAGTTCCCTGTAATC	0.438																																						uc004dbw.2		NA																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(445-447)TTC>TAC		melanoma antigen family B, 10							65.0	63.0	64.0					X																	27839869		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27839869T>A		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.446T>A	X.37:g.27839869T>A	ENSP00000368304:p.Phe149Tyr						p.F149Y	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN			3	673	+			149			MAGE.		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.446T>A	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250093	0.39797	.	.	ENSG00000177689	ENST00000356790	T	0.06528	3.29	2.62	-1.65	0.08291	.	0.266767	0.31415	U	0.007686	T	0.14442	0.0349	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.10520	-1.0626	10	0.56958	D	0.05	.	2.2341	0.04003	0.4691:0.1575:0.0:0.3734	.	149	Q96LZ2	MAGBA_HUMAN	Y	149	ENSP00000368304:F149Y	ENSP00000368304:F149Y	F	+	2	0	MAGEB10	27749790	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.130000	0.10498	-0.494000	0.06669	0.345000	0.21793	TTC		0.438	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		23	30	0	0	0	0	23	30				
MED12	9968	broad.mit.edu	37	X	70350030	70350030	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:70350030A>G	ENST00000374080.3	+	28	4045	c.4013A>G	c.(4012-4014)aAc>aGc	p.N1338S	MED12_ENST00000333646.6_Missense_Mutation_p.N1338S|MED12_ENST00000374102.1_Missense_Mutation_p.N1338S			Q93074	MED12_HUMAN	mediator complex subunit 12	1338					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATGGGGAAAACCCCCAGCGG	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4012-4014)AAC>AGC		mediator complex subunit 12							38.0	35.0	36.0					X																	70350030		1994	4158	6152	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70350030A>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4013A>G	X.37:g.70350030A>G	ENSP00000363193:p.Asn1338Ser					MED12_uc011mpq.1_Missense_Mutation_p.N1338S|MED12_uc004dyz.2_Missense_Mutation_p.N1338S|MED12_uc004dza.2_Missense_Mutation_p.N1185S|MED12_uc010nla.2_5'UTR	p.N1338S	NM_005120	NP_005111	Q93074	MED12_HUMAN			28	4212	+	Renal(35;0.156)		1338					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4013A>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687145	0.29962	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.83506	-1.73;-1.73;-1.73;-1.73;1.43	4.93	3.73	0.42828	.	0.047795	0.85682	D	0.000000	T	0.76378	0.3979	L	0.46157	1.445	0.53005	D	0.999966	B;P;P;B	0.52061	0.203;0.95;0.845;0.23	B;P;P;B	0.46110	0.219;0.504;0.503;0.186	T	0.73272	-0.4035	10	0.06236	T	0.91	-19.3433	11.0816	0.48064	0.8467:0.1533:0.0:0.0	.	1338;1185;1338;1338	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	S	1338;1338;1338;1338;1306;83	ENSP00000333125:N1338S;ENSP00000363215:N1338S;ENSP00000363193:N1338S;ENSP00000414203:N1306S;ENSP00000408388:N83S	ENSP00000333125:N1338S	N	+	2	0	MED12	70266755	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.879000	0.92398	0.772000	0.33382	0.441000	0.28932	AAC		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		2	11	0	0	0	0	2	11				
XKRX	402415	broad.mit.edu	37	X	100183281	100183281	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chrX:100183281A>G	ENST00000372956.2	-	1	617	c.13T>C	c.(13-15)Tat>Cat	p.Y5H	XKRX_ENST00000468904.1_Missense_Mutation_p.Y5H|XKRX_ENST00000328526.5_Missense_Mutation_p.Y18H			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGAATTTCATAAACTCTGTCC	0.488																																						uc004egn.2		NA																	0				breast(1)	1						c.(13-15)TAT>CAT		XK, Kell blood group complex subunit-related,							175.0	175.0	175.0					X																	100183281		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100183281A>G	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.13T>C	X.37:g.100183281A>G	ENSP00000362047:p.Tyr5His					XKRX_uc011mre.1_5'UTR	p.Y5H	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			1	618	-			5					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.13T>C	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426506	0.43020	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T	0.67523	-0.27;-0.24	4.65	3.41	0.39046	.	0.710225	0.13296	N	0.398618	T	0.47764	0.1463	N	0.08118	0	0.27716	N	0.945288	B	0.26258	0.145	B	0.33521	0.165	T	0.46400	-0.9194	10	0.51188	T	0.08	-4.5557	8.0858	0.30771	0.8182:0.0:0.0:0.1818	.	5	Q6PP77	XKR2_HUMAN	H	18;5;5	ENSP00000327570:Y18H;ENSP00000362047:Y5H	ENSP00000327570:Y18H	Y	-	1	0	XKRX	100069937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.091000	0.30915	1.729000	0.51567	0.350000	0.21858	TAT		0.488	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		72	65	0	0	0	0	72	65				
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000535720.1_RNA|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						uc001tyy.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(697-699)GAAdel		malectin precursor				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del						p.E238del	NM_014730	NP_055545	Q14165	MLEC_HUMAN			5	848_850	+			238			Poly-Glu.|Lumenal (Potential).			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		7	158	NA	NA	NA	NA	7	158	---	---	---	---
CD300E	342510	broad.mit.edu	37	17	72608823	72608823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr17:72608823delT	ENST00000328630.3	-	4	627	c.587delA	c.(586-588)aacfs	p.N196fs	CD300E_ENST00000392619.1_Frame_Shift_Del_p.N223fs|CD300E_ENST00000426295.2_Frame_Shift_Del_p.N237fs			Q496F6	CLM2_HUMAN	CD300e molecule	196					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGAGGCCTGTTCACCCAGAA	0.632																																						uc002jlb.1		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(586-588)AACfs		CD300e molecule precursor							73.0	72.0	72.0					17																	72608823		2203	4300	6503	SO:0001589	frameshift_variant	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72608823delT	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.587delA	17.37:g.72608823delT	ENSP00000329942:p.Asn196fs						p.N196fs	NM_181449	NP_852114	Q496F6	CLM2_HUMAN			4	628	-			196			Cytoplasmic (Potential).		B4DNS1|Q7Z7I3	Frame_Shift_Del	DEL	ENST00000328630.3	37	c.587delA	CCDS11702.1																																																																																				0.632	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		26	98	NA	NA	NA	NA	26	98	---	---	---	---
TLDC2	140711	broad.mit.edu	37	20	35515884	35515884	+	Frame_Shift_Del	DEL	T	T	-	rs544561249		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr20:35515884delT	ENST00000217320.3	+	5	509	c.465delT	c.(463-465)tctfs	p.S155fs	TLDC2_ENST00000602922.1_Frame_Shift_Del_p.S155fs	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	155	TLD.																GAAGCAACTCTTTCTTTGTGA	0.532											OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xgg.1		NA																	0					0						c.(463-465)TCTfs		hypothetical protein LOC140711							166.0	152.0	157.0					20																	35515884		2203	4300	6503	SO:0001589	frameshift_variant	140711							g.chr20:35515884delT	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.465delT	20.37:g.35515884delT	ENSP00000217320:p.Ser155fs		OREG0025911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	855		p.S155fs	NM_080628	NP_542195	A0PJX2	CT118_HUMAN			5	473	+		Myeloproliferative disorder(115;0.00874)	155			TLD.		B3KVU8	Frame_Shift_Del	DEL	ENST00000217320.3	37	c.465delT	CCDS33465.1																																																																																				0.532	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		29	112	NA	NA	NA	NA	29	112	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33060638	33060639	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr21:33060638_33060639insA	ENST00000286835.7	-	16	2406_2407	c.2024_2025insT	c.(2023-2025)atafs	p.I675fs	SCAF4_ENST00000399804.1_Frame_Shift_Ins_p.I675fs|SCAF4_ENST00000434667.3_Frame_Shift_Ins_p.I660fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	675						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I675T(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTGGCACTGTTATAGGTGCAGG	0.441																																						uc002ypd.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(2023-2025)ATAfs		splicing factor, arginine/serine-rich 15 isoform																																				SO:0001589	frameshift_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33060638_33060639insA	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2025dupT	21.37:g.33060639_33060639dupA	ENSP00000286835:p.Ile675fs					SFRS15_uc002ype.2_Frame_Shift_Ins_p.I675fs|SFRS15_uc010glu.2_Frame_Shift_Ins_p.I660fs|SFRS15_uc002ypf.1_Frame_Shift_Ins_p.I349fs	p.I675fs	NM_020706	NP_065757	O95104	SFR15_HUMAN			16	2450_2451	-			675					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Ins	INS	ENST00000286835.7	37	c.2024_2025insT	CCDS33537.1																																																																																				0.441	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		38	118	NA	NA	NA	NA	38	118	---	---	---	---
BAP1	8314	broad.mit.edu	37	3	52439912	52439913	+	Frame_Shift_Del	DEL	TG	TG	-	rs387906849		TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr3:52439912_52439913delTG	ENST00000460680.1	-	10	1270_1271	c.799_800delCA	c.(799-801)cagfs	p.Q267fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q249fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q267*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGCTCTGGCTGTGTTACTCTT	0.52			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	uc003ddx.2		NA		Rec	yes		3	3p21.31-p21.2	8314	N|Mis|F|S|O	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E			uveal melanoma|breast|NSCLC		1	Substitution - Nonsense(1)		kidney(1)	pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(799-801)CAGfs		BRCA1 associated protein-1																																				SO:0001589	frameshift_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439912_52439913delTG	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.799_800delCA	3.37:g.52439914_52439915delTG	ENSP00000417132:p.Gln267fs					BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank	p.Q267fs	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	10	914_915	-			267					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.799_800delCA	CCDS2853.1																																																																																				0.520	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			21	44	NA	NA	NA	NA	21	44	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153251878	153251886	+	Splice_Site	DEL	AGTTACCTT	AGTTACCTT	-			TCGA-CV-7263-01A-11D-2012-08	TCGA-CV-7263-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	19a07472-c8b9-4a34-b2cb-11ace35e7903	d34d6638-773d-4695-a34a-63d7f9685243	g.chr4:153251878_153251886delAGTTACCTT	ENST00000281708.4	-	7	2349_2352	c.1120_1123delAAGGTAACT	c.(1120-1125)aaggta>ta	p.KV374del	FBXW7_ENST00000296555.5_Splice_Site_p.KV256del|FBXW7_ENST00000603841.1_Splice_Site_p.KV374del|FBXW7_ENST00000393956.3_Splice_Site_p.KV198del|FBXW7_ENST00000603548.1_Splice_Site_p.KV374del|FBXW7_ENST00000263981.5_Splice_Site_p.KV294del	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	374					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCAGAGTTCAGTTACCTTAGGAGATTTG	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.e7+1		F-box and WD repeat domain containing 7 isoform																																				SO:0001630	splice_region_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153251878_153251886delAGTTACCTT	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1122+1AAGGTAACT>-	4.37:g.153251878_153251886delAGTTACCTT						FBXW7_uc011cii.1_Splice_Site_p.K374_splice|FBXW7_uc003imt.2_Splice_Site_p.K374_splice|FBXW7_uc011cih.1_Splice_Site_p.K198_splice|FBXW7_uc003imq.2_Splice_Site_p.K294_splice|FBXW7_uc003imr.2_Splice_Site_p.K256_splice	p.K374_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			7	1271	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)						B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Splice_Site	DEL	ENST00000281708.4	37	c.1122_splice	CCDS3777.1																																																																																				0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		In_Frame_Del	43	56	NA	NA	NA	NA	43	56	---	---	---	---
