#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MMP23B	8510	broad.mit.edu	37	1	1572563	1572563	+	IGR	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:1572563C>A	ENST00000356026.5	+	0	1326				CDK11B_ENST00000317673.7_Splice_Site_p.G525G|CDK11B_ENST00000341832.6_Splice_Site_p.G480G|CDK11B_ENST00000340677.5_Splice_Site_p.G514G|CDK11B_ENST00000407249.3_Splice_Site_p.G527G			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	TCTTCACCTCCCCTGGGAGGG	0.642																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1579-1581)ggG>ggT		cyclin-dependent kinase 11B							59.0	71.0	67.0					1																	1572563		2093	4238	6331	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1572563C>A		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572563C>A						CDK11B_ENST00000317673.7_Splice_Site_p.G525G|CDK11B_ENST00000341832.6_Splice_Site_p.G480G|CDK11B_ENST00000340677.5_Splice_Site_p.G514G	p.G527G			P21127	CD11B_HUMAN			16	1580	-			537			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Splice_Site	SNP	ENST00000356026.5	37	c.1581G>T	CCDS30559.1																																																																																				0.642	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		4	33	4	33	---	---	---	---
PER3	8863	broad.mit.edu	37	1	7844947	7844947	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:7844947G>T	ENST00000361923.2	+	1	185	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	PER3_ENST00000377541.1_Missense_Mutation_p.G4W|PER3_ENST00000377532.3_Missense_Mutation_p.G4W	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	4					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GATGCCCCGCGGGGAAGCTCC	0.667																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(10-12)Ggg>Tgg		period circadian clock 3							8.0	12.0	11.0					1																	7844947		2166	4251	6417	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7844947G>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.10G>T	1.37:g.7844947G>T	ENSP00000355031:p.Gly4Trp					PER3_ENST00000377541.1_Missense_Mutation_p.G4W|PER3_ENST00000361923.2_Missense_Mutation_p.G4W	p.G4W			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	1	234	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	4					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.10G>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792985	0.31685	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.34667	1.35;2.79;2.79	2.78	-4.31	0.03698	.	3.804840	0.01371	U	0.012565	T	0.44371	0.1290	L	0.36672	1.1	0.09310	N	1	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	P;P;D;P	0.67103	0.867;0.867;0.949;0.891	T	0.49370	-0.8947	10	0.87932	D	0	.	4.6396	0.12541	0.4554:0.3192:0.2254:0.0	.	4;4;4;4	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	W	4	ENSP00000366764:G4W;ENSP00000366755:G4W;ENSP00000355031:G4W	ENSP00000355031:G4W	G	+	1	0	PER3	7767534	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.015000	0.03637	-1.170000	0.02769	0.555000	0.69702	GGG		0.667	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		4	17	4	17	---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12157182	12157182	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:12157182C>A	ENST00000263932.2	+	3	398	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	59					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|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)	Brentuximab vedotin(DB08870)	CAGCAGTGCCCACAGAGGCCT	0.572																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(175-177)cCa>cAa		tumor necrosis factor receptor superfamily, member 8							103.0	95.0	98.0					1																	12157182		2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12157182C>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.176C>A	1.37:g.12157182C>A	ENSP00000263932:p.Pro59Gln					TNFRSF8_ENST00000417814.2_5'UTR	p.P59Q	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_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)	3	398	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	59					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.176C>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	7.926	0.739637	0.15642	.	.	ENSG00000120949	ENST00000263932	D	0.91011	-2.77	3.91	2.82	0.32997	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.47455	D	0.000237	D	0.89403	0.6705	L	0.34521	1.04	0.28247	N	0.925449	D	0.76494	0.999	D	0.73708	0.981	T	0.80402	-0.1397	10	0.13853	T	0.58	-16.3884	7.4627	0.27304	0.0:0.8669:0.0:0.1331	.	59	P28908	TNR8_HUMAN	Q	59	ENSP00000263932:P59Q	ENSP00000263932:P59Q	P	+	2	0	TNFRSF8	12079769	0.551000	0.26497	0.292000	0.24919	0.014000	0.08584	1.185000	0.32065	1.042000	0.40150	0.655000	0.94253	CCA		0.572	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			5	110	5	110	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27058091	27058091	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:27058091C>A	ENST00000324856.7	+	3	2170	c.1799C>A	c.(1798-1800)cCg>cAg	p.P600Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.P600Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P217Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	600					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCCCTCCACCGCAGGTAAGA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1798-1800)cCg>cAg		AT rich interactive domain 1A (SWI-like)							84.0	80.0	81.0					1																	27058091		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27058091C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1799C>A	1.37:g.27058091C>A	ENSP00000320485:p.Pro600Gln					ARID1A_ENST00000457599.2_Missense_Mutation_p.P600Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P217Q	p.P600Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2170	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	600					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1799C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655605	0.67586	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02472	4.54;4.28;4.34	5.31	5.31	0.75309	.	0.054878	0.64402	D	0.000001	T	0.07143	0.0181	N	0.20401	0.57	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.69142	0.916;0.962;0.953	T	0.59637	-0.7417	10	0.17369	T	0.5	-6.2647	19.1625	0.93539	0.0:1.0:0.0:0.0	.	600;600;254	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	Q	600;600;217	ENSP00000320485:P600Q;ENSP00000387636:P600Q;ENSP00000363267:P217Q	ENSP00000320485:P600Q	P	+	2	0	ARID1A	26930678	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.976000	0.63785	2.755000	0.94549	0.563000	0.77884	CCG		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		6	162	6	162	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673327	32673327	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:32673327T>C	ENST00000291358.6	+	5	1066	c.1045T>C	c.(1045-1047)Tca>Cca	p.S349P	IQCC_ENST00000537469.1_Missense_Mutation_p.S429P|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	349										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTATGAGGACTCAAATATTAA	0.498																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1285-1287)Tca>Cca		IQ motif containing C							68.0	76.0	74.0					1																	32673327		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32673327T>C	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1045T>C	1.37:g.32673327T>C	ENSP00000291358:p.Ser349Pro					IQCC_ENST00000291358.6_Missense_Mutation_p.S349P	p.S429P	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1332	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	349					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.1285T>C	CCDS355.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.824315	0.00589	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.23552	1.9;1.94	3.88	-0.206	0.13193	.	0.460978	0.18636	N	0.135453	T	0.05135	0.0137	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33954	-0.9848	10	0.02654	T	1	-0.6988	2.2808	0.04113	0.3411:0.3918:0.1673:0.0998	.	429;349	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	P	429;349	ENSP00000442291:S429P;ENSP00000291358:S349P	ENSP00000291358:S349P	S	+	1	0	IQCC	32445914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.021000	0.14009	-2.841000	0.00105	TCA		0.498	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		3	151	3	151	---	---	---	---
ZSCAN20	7579	broad.mit.edu	37	1	33960126	33960126	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:33960126C>A	ENST00000361328.3	+	8	2335	c.2182C>A	c.(2182-2184)Cat>Aat	p.H728N		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	728					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTCATTGCCCATCAGCGAAT	0.463																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2182-2184)Cat>Aat		zinc finger and SCAN domain containing 20							94.0	103.0	100.0					1																	33960126		2153	4289	6442	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960126C>A	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2182C>A	1.37:g.33960126C>A	ENSP00000355053:p.His728Asn						p.H728N	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN			8	2335	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	728					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2182C>A	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705158	0.48412	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.195131	0.36167	N	0.002748	D	0.87148	0.6105	H	0.96015	3.755	0.41420	D	0.987792	D;P	0.59357	0.985;0.95	P;D	0.65233	0.844;0.933	D	0.90858	0.4736	9	0.87932	D	0	-12.6558	17.4589	0.87615	0.0:1.0:0.0:0.0	.	727;728	P17040-3;P17040	.;ZSC20_HUMAN	N	728;662;662	.	ENSP00000324450:H728N	H	+	1	0	ZSCAN20	33732713	1.000000	0.71417	0.066000	0.19879	0.002000	0.02628	7.800000	0.85949	2.786000	0.95864	0.561000	0.74099	CAT		0.463	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		6	155	6	155	---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39879530	39879530	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:39879530C>A	ENST00000530275.1	+	1	3380	c.3185C>A	c.(3184-3186)cCg>cAg	p.P1062Q	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1062	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCACTTCCCCGGCAGCTTCA	0.642																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(3184-3186)cCg>cAg		KIAA0754							17.0	20.0	19.0					1																	39879530		1944	4140	6084	SO:0001583	missense	643314							g.chr1:39879530C>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3185C>A	1.37:g.39879530C>A	ENSP00000431179:p.Pro1062Gln					MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	p.P1062Q	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3380	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	1062			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3185C>A		.	.	.	.	.	.	.	.	.	.	c	10.95	1.496911	0.26861	.	.	ENSG00000255103	ENST00000530275	T	0.37752	1.18	2.52	0.387	0.16259	.	.	.	.	.	T	0.29588	0.0738	N	0.14661	0.345	0.09310	N	1	D	0.57257	0.979	P	0.54706	0.759	T	0.19160	-1.0314	9	0.38643	T	0.18	.	6.7125	0.23284	0.1741:0.7042:0.0:0.1217	.	1062	O94854	K0754_HUMAN	Q	1062	ENSP00000431179:P1062Q	ENSP00000431179:P1062Q	P	+	2	0	RP4-562N20.1	39652117	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.193000	0.03049	-0.580000	0.05944	-1.021000	0.02439	CCG		0.642	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		3	31	3	31	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103387099	103387099	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:103387099C>A	ENST00000370096.3	-	48	3995	c.3683G>T	c.(3682-3684)gGc>gTc	p.G1228V	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1240V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1112V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1189V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1228	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTGAGGGCCTCTTGGGCC	0.368																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3718-3720)gGc>gTc		collagen, type XI, alpha 1							73.0	85.0	81.0					1																	103387099		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103387099C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3683G>T	1.37:g.103387099C>A	ENSP00000359114:p.Gly1228Val					COL11A1_ENST00000512756.1_Missense_Mutation_p.G1112V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1189V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1228V	p.G1240V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	48	4036	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1228			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3719G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137490	0.56936	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97209	-4.29;-4.21;-4.29;-4.29	5.22	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	H	0.98314	4.2	0.80722	D	1	B;D;B;B;B	0.89917	0.013;1.0;0.049;0.029;0.04	B;D;B;B;B	0.97110	0.013;1.0;0.058;0.026;0.03	D	0.99157	1.0860	10	0.87932	D	0	.	14.1515	0.65387	0.1514:0.8486:0.0:0.0	.	1112;1189;1240;1228;448	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1228;1240;1189;448;1112	ENSP00000359114:G1228V;ENSP00000351163:G1240V;ENSP00000302551:G1189V;ENSP00000426533:G1112V	ENSP00000302551:G1189V	G	-	2	0	COL11A1	103159687	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.364000	0.79526	1.308000	0.44962	0.655000	0.94253	GGC		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	225	5	225	---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110921517	110921517	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:110921517C>A	ENST00000369779.4	-	6	1237	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220W|SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268W|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282W|SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000369781.4_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	330					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATGTCAATCCCCAGTGTTTTG	0.413																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(988-990)Ggg>Tgg		solute carrier family 16, member 4	Pyruvic acid(DB00119)						108.0	105.0	106.0					1																	110921517		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110921517C>A	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.988G>T	1.37:g.110921517C>A	ENSP00000358794:p.Gly330Trp					SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268W|SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220W|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282W|SLC16A4_ENST00000369781.4_Intron	p.G330W	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	1237	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	330					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.988G>T	CCDS823.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.213044	0.79352	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.99	4.08	0.47627	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.367376	0.34156	N	0.004216	D	0.92309	0.7560	M	0.90082	3.085	0.46564	D	0.999108	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.92859	0.6304	10	0.87932	D	0	.	10.2368	0.43288	0.0:0.7928:0.1359:0.0712	.	220;268;282;330	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	W	330;282;220;268;97	ENSP00000358794:G330W;ENSP00000432495:G282W;ENSP00000394790:G220W;ENSP00000446087:G268W;ENSP00000435768:G97W	ENSP00000358794:G330W	G	-	1	0	SLC16A4	110723040	1.000000	0.71417	0.461000	0.27105	0.925000	0.55904	3.067000	0.50010	0.831000	0.34780	0.651000	0.88453	GGG		0.413	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		5	111	5	111	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117552477	117552477	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:117552477C>T	ENST00000256652.4	+	2	107	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	CD101_ENST00000369470.1_Missense_Mutation_p.L17F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	17					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAAGCTAAGCTCAGCATTGG	0.443																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(49-51)Ctc>Ttc		CD101 molecule							74.0	76.0	75.0					1																	117552477		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552477C>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.49C>T	1.37:g.117552477C>T	ENSP00000256652:p.Leu17Phe					CD101_ENST00000369470.1_Missense_Mutation_p.L17F	p.L17F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			2	107	+			17					Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.49C>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	9.344	1.063836	0.20067	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.04156	3.69;3.69	5.79	4.87	0.63330	Immunoglobulin-like fold (1);	0.264494	0.27586	N	0.018718	T	0.01695	0.0054	L	0.33485	1.01	0.26672	N	0.971706	B	0.29508	0.246	B	0.26094	0.066	T	0.41945	-0.9480	10	0.35671	T	0.21	-12.5549	13.0834	0.59127	0.0:0.9214:0.0:0.0786	.	17	Q93033	IGSF2_HUMAN	F	17	ENSP00000256652:L17F;ENSP00000358482:L17F	ENSP00000256652:L17F	L	+	1	0	CD101	117354000	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	1.775000	0.38584	1.418000	0.47098	0.655000	0.94253	CTC		0.443	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		28	39	28	39	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153965386	153965386	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:153965386G>T	ENST00000368559.3	-	40	5663	c.5592C>A	c.(5590-5592)ccC>ccA	p.P1864P	NUP210L_ENST00000368553.1_Silent_p.P645P|NUP210L_ENST00000271854.3_Silent_p.P1712P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1864				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345). {ECO:0000305}.	Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGAAGTGAGGGGGAGAACTTG	0.423																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(5590-5592)ccC>ccA		nucleoporin 210kDa-like							170.0	167.0	168.0					1																	153965386		1856	4096	5952	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153965386G>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5592C>A	1.37:g.153965386G>T						NUP210L_ENST00000271854.3_Silent_p.P1712P|NUP210L_ENST00000368553.1_Silent_p.P645P	p.P1864P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		40	5663	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1864	FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345).				E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.5592C>A	CCDS41399.1																																																																																				0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		8	418	8	418	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228482724	228482724	+	Nonsense_Mutation	SNP	C	C	A	rs368907625		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:228482724C>A	ENST00000422127.1	+	43	11683	c.11639C>A	c.(11638-11640)tCg>tAg	p.S3880*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.S4309*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S999*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.S2727*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S999*|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3880	Ig-like 39.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAGGACCTCGGCCACACTC	0.587																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12925-12927)tCg>tAg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							108.0	109.0	109.0					1																	228482724		2138	4236	6374	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228482724C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11639C>A	1.37:g.228482724C>A	ENSP00000409493:p.Ser3880*					OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.S2727*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S999*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S999*	p.S4309*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			48	13000	+		Prostate(94;0.0405)	3352			Ig-like 44.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.12926C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	62	69.457041	0.99992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	.	.	.	5.01	3.04	0.35103	.	0.326183	0.26478	N	0.024151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9791	0.53109	0.1362:0.7327:0.131:0.0	.	.	.	.	X	3880;3880;999;999;2727	.	ENSP00000284548:S3880X	S	+	2	0	OBSCN	226549347	0.000000	0.05858	0.021000	0.16686	0.517000	0.34286	0.014000	0.13333	1.328000	0.45358	0.563000	0.77884	TCG		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	136	4	136	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232649979	232649979	+	Missense_Mutation	SNP	C	C	T	rs113255944	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:232649979C>T	ENST00000366630.1	-	2	1465	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	369					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCCCGTAGGCATCTGAGTCT	0.507													C|||	4	0.000798722	0.003	0.0	5008	,	,		19603	0.0		0.0	False		,,,				2504	0.0					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1105-1107)atG>atA		signal-induced proliferation-associated 1 like 2		C	ILE/MET	19,3873		0,19,1927	103.0	105.0	104.0		1107	4.5	1.0	1	dbSNP_132	104	0,8282		0,0,4141	yes	missense	SIPA1L2	NM_020808.3	10	0,19,6068	TT,TC,CC		0.0,0.4882,0.1561	benign	369/1723	232649979	19,12155	1946	4141	6087	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649979C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1107G>A	1.37:g.232649979C>T	ENSP00000355589:p.Met369Ile					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I	p.M369I			Q9P2F8	SI1L2_HUMAN			2	1465	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	369					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1107G>A	CCDS41474.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	8.958	0.969918	0.18659	0.004882	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.77489	-1.1;-1.1	5.39	4.46	0.54185	.	0.514098	0.24350	N	0.039285	T	0.48370	0.1496	N	0.08118	0	0.28358	N	0.92059	B	0.02656	0.0	B	0.04013	0.001	T	0.45026	-0.9289	10	0.32370	T	0.25	-14.58	8.7381	0.34541	0.1566:0.7686:0.0:0.0749	.	369	Q9P2F8	SI1L2_HUMAN	I	369	ENSP00000355589:M369I;ENSP00000262861:M369I	ENSP00000262861:M369I	M	-	3	0	SIPA1L2	230716602	0.897000	0.30589	0.988000	0.46212	0.727000	0.41649	1.187000	0.32090	1.451000	0.47736	0.650000	0.86243	ATG		0.507	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	139	6	139	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54826279	54826279	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:54826279C>A	ENST00000356805.4	+	3	480	c.199C>A	c.(199-201)Cac>Aac	p.H67N	SPTBN1_ENST00000333896.5_Missense_Mutation_p.H54N	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	67	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTCAATTCCCACCTTGCCCG	0.537																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(160-162)Cac>Aac		spectrin, beta, non-erythrocytic 1							173.0	141.0	152.0					2																	54826279		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54826279C>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.199C>A	2.37:g.54826279C>A	ENSP00000349259:p.His67Asn					SPTBN1_ENST00000356805.4_Missense_Mutation_p.H67N	p.H54N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	545	+			67			Actin-binding.|CH 1.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.160C>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330301	0.95733	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;D	0.95272	-0.03;-0.03;-3.66	5.65	5.65	0.86999	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.82323	2.585	0.80722	D	1	P;D	0.56287	0.918;0.975	P;D	0.64776	0.774;0.929	D	0.97318	0.9942	10	0.66056	D	0.02	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	54;67	Q01082-3;Q01082	.;SPTB2_HUMAN	N	67;67;54	ENSP00000349259:H67N;ENSP00000374630:H67N;ENSP00000334156:H54N	ENSP00000334156:H54N	H	+	1	0	SPTBN1	54679783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.824000	0.97209	0.655000	0.94253	CAC		0.537	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			6	134	6	134	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100203740	100203740	+	Splice_Site	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:100203740A>G	ENST00000409236.2	-	14	2579	c.2467T>C	c.(2467-2469)Tgt>Cgt	p.C823R	AFF3_ENST00000356421.2_Splice_Site_p.C848R|AFF3_ENST00000409579.1_Splice_Site_p.C848R|AFF3_ENST00000317233.4_Splice_Site_p.C823R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	823					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGTTGTCACACTGTATGGGA	0.493																																						ENST00000409236.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2467-2469)Tgt>Cgt		AF4/FMR2 family, member 3							229.0	197.0	208.0					2																	100203740		2203	4300	6503	SO:0001630	splice_region_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100203740A>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2467-1T>C	2.37:g.100203740A>G						AFF3_ENST00000356421.2_Splice_Site_p.C848R|AFF3_ENST00000317233.4_Splice_Site_p.C823R|AFF3_ENST00000409579.1_Splice_Site_p.C848R	p.C823R			P51826	AFF3_HUMAN			14	2579	-								B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37	c.2467T>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	A	7.819	0.717269	0.15372	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.92	4.74	0.60224	.	0.317881	0.30979	N	0.008491	T	0.66587	0.2804	L	0.51422	1.61	0.58432	D	0.999997	P;B;P	0.50819	0.939;0.162;0.731	P;B;B	0.57846	0.828;0.187;0.444	T	0.61481	-0.7054	10	0.18276	T	0.48	.	10.8637	0.46842	0.9281:0.0:0.0719:0.0	.	976;823;848	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	R	823;848;848;823;823;976	ENSP00000317421:C823R;ENSP00000348793:C848R;ENSP00000386834:C848R;ENSP00000387207:C823R	ENSP00000317421:C823R	C	-	1	0	AFF3	99570172	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	4.362000	0.59467	1.029000	0.39812	0.533000	0.62120	TGT		0.493	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	Missense_Mutation	66	95	66	95	---	---	---	---
TMEM177	80775	broad.mit.edu	37	2	120438841	120438841	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:120438841C>A	ENST00000424086.1	+	2	885	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	TMEM177_ENST00000401466.1_Silent_p.R138R|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.R138R	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	138						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					AGCAGGCGCCCGGCTGAGAGC	0.602																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(412-414)Cgg>Agg		transmembrane protein 177							112.0	130.0	124.0					2																	120438841		2203	4300	6503	SO:0001819	synonymous_variant	80775					integral to membrane		g.chr2:120438841C>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.412C>A	2.37:g.120438841C>A						TMEM177_ENST00000272521.6_Silent_p.R138R|TMEM177_ENST00000401466.1_Silent_p.R138R|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	p.R138R	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	885	+	Colorectal(110;0.196)		138					Q9BT20	Silent	SNP	ENST00000424086.1	37	c.412C>A	CCDS2128.1																																																																																				0.602	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		5	177	5	177	---	---	---	---
MARS2	92935	broad.mit.edu	37	2	198571628	198571628	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:198571628C>A	ENST00000282276.6	+	1	1542	c.1499C>A	c.(1498-1500)cCa>cAa	p.P500Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	500					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGGAGAGCCCAGTGGATGCT	0.542																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1498-1500)cCa>cAa		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						121.0	120.0	121.0					2																	198571628		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571628C>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1499C>A	2.37:g.198571628C>A	ENSP00000282276:p.Pro500Gln					AC011997.1_ENST00000409845.1_Intron	p.P500Q	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	1542	+			500					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.1499C>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610790	0.28712	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.47528	0.84	4.89	3.93	0.45458	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.681105	0.14783	N	0.298684	T	0.40094	0.1103	L	0.53561	1.675	0.27829	N	0.941507	B	0.33919	0.432	B	0.31751	0.135	T	0.40850	-0.9541	10	0.59425	D	0.04	-7.7741	7.2784	0.26297	0.0:0.8789:0.0:0.1211	.	500	Q96GW9	SYMM_HUMAN	Q	500;427	ENSP00000282276:P500Q	ENSP00000282276:P500Q	P	+	2	0	MARS2	198279873	0.003000	0.15002	0.970000	0.41538	0.985000	0.73830	1.107000	0.31110	2.532000	0.85374	0.655000	0.94253	CCA		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		6	189	6	189	---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208866226	208866226	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:208866226C>A	ENST00000427836.2	-	2	627	c.138G>T	c.(136-138)gtG>gtT	p.V46V	PLEKHM3_ENST00000457206.1_Silent_p.V46V|PLEKHM3_ENST00000389247.4_Silent_p.V46V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	46					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCATGCCCCACCAGTTCAG	0.483																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(136-138)gtG>gtT		pleckstrin homology domain containing, family M, member 3							108.0	108.0	108.0					2																	208866226		1940	4146	6086	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208866226C>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.138G>T	2.37:g.208866226C>A						PLEKHM3_ENST00000427836.2_Silent_p.V46V|PLEKHM3_ENST00000389247.4_Silent_p.V46V	p.V46V			Q6ZWE6	PKHM3_HUMAN			2	565	-			46					B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.138G>T	CCDS42808.1																																																																																				0.483	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		6	161	6	161	---	---	---	---
LRRFIP1	9208	broad.mit.edu	37	2	238671963	238671963	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:238671963G>A	ENST00000392000.4	+	11	1724	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.S512N	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	536	DNA-binding.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ACAGGTCCAAGTACAGTAGAC	0.473																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1534-1536)aGt>aAt		leucine rich repeat (in FLII) interacting protein 1							77.0	84.0	81.0					2																	238671963		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238671963G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1607G>A	2.37:g.238671963G>A	ENSP00000375857:p.Ser536Asn					LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N	p.S512N	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	10	1775	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	536			DNA-binding.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1535G>A	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583364	0.28268	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.10763	2.84;2.84;2.85	5.06	0.733	0.18289	.	2.277220	0.01393	N	0.013319	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B;B;B	0.32160	0.358;0.244;0.358	B;B;B	0.27500	0.08;0.055;0.08	T	0.24368	-1.0162	10	0.25106	T	0.35	7.0E-4	2.7209	0.05200	0.1696:0.2515:0.4508:0.1282	.	480;536;512	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	N	480;512;536	ENSP00000289175:S480N;ENSP00000244815:S512N;ENSP00000375857:S536N	ENSP00000244815:S512N	S	+	2	0	LRRFIP1	238336702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.488000	0.06497	0.197000	0.20387	0.655000	0.94253	AGT		0.473	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		50	70	50	70	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10301992	10301992	+	Missense_Mutation	SNP	G	G	T	rs374060667		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:10301992G>T	ENST00000287652.4	+	3	1637	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.G196W	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	196					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGGCATCCTGGGGAAATCGAT	0.542																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(586-588)Ggg>Tgg		TatD DNase domain containing 2							53.0	55.0	54.0					3																	10301992		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10301992G>T	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.586G>T	3.37:g.10301992G>T	ENSP00000287652:p.Gly196Trp					TATDN2_ENST00000448281.2_Missense_Mutation_p.G196W|RP11-438J1.1_ENST00000450534.1_3'UTR	p.G196W	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			3	1637	+			196					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.586G>T	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953371	0.73902	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.44083	0.93;0.93	4.96	4.96	0.65561	.	0.000000	0.36338	N	0.002657	T	0.61702	0.2368	M	0.66939	2.045	0.47183	D	0.999343	D	0.89917	1.0	D	0.79784	0.993	T	0.64028	-0.6503	10	0.87932	D	0	-36.4744	13.9083	0.63850	0.0:0.0:1.0:0.0	.	196	Q93075	TATD2_HUMAN	W	196	ENSP00000287652:G196W;ENSP00000408736:G196W	ENSP00000287652:G196W	G	+	1	0	TATDN2	10276992	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.387000	0.52501	2.734000	0.93682	0.655000	0.94253	GGG		0.542	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		5	78	5	78	---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37034262	37034262	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:37034262C>A	ENST00000322716.5	-	1	533	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	103					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CGGCAGAGCCCGAGGCCTGCA	0.667																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(307-309)Ggg>Tgg		EPM2A (laforin) interacting protein 1							68.0	74.0	72.0					3																	37034262		1948	4148	6096	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37034262C>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.307G>T	3.37:g.37034262C>A	ENSP00000406027:p.Gly103Trp						p.G103W	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	533	-			103					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.307G>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495499	0.64186	.	.	ENSG00000178567	ENST00000322716	T	0.14266	2.52	5.26	4.37	0.52481	.	.	.	.	.	T	0.19805	0.0476	L	0.36672	1.1	0.32295	N	0.565815	P	0.51791	0.948	P	0.54706	0.759	T	0.02975	-1.1087	9	0.66056	D	0.02	-5.5428	9.9194	0.41455	0.0:0.9062:0.0:0.0938	.	103	Q7L775	EPMIP_HUMAN	W	103	ENSP00000406027:G103W	ENSP00000406027:G103W	G	-	1	0	EPM2AIP1	37009266	0.979000	0.34478	0.998000	0.56505	0.996000	0.88848	2.618000	0.46393	2.735000	0.93741	0.563000	0.77884	GGG		0.667	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		5	145	5	145	---	---	---	---
LTF	4057	broad.mit.edu	37	3	46491405	46491405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:46491405C>A	ENST00000231751.4	-	8	1291	c.996G>T	c.(994-996)agG>agT	p.R332S	LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	332	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CAGAATCTATCCTCGGGGGCA	0.557																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(994-996)agG>agT		lactotransferrin	Pefloxacin(DB00487)						73.0	73.0	73.0					3																	46491405		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46491405C>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.996G>T	3.37:g.46491405C>A	ENSP00000231751:p.Arg332Ser					LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	p.R332S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	8	1291	-			332			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.996G>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	9.143	1.014378	0.19277	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	4.84	-1.63	0.08345	.	0.854643	0.10825	N	0.630036	T	0.07773	0.0195	N	0.11870	0.19	0.09310	N	1	P;P;P	0.36577	0.453;0.558;0.453	B;B;B	0.43331	0.416;0.348;0.416	T	0.28427	-1.0044	10	0.46703	T	0.11	-0.8823	1.1412	0.01766	0.1471:0.3626:0.1436:0.3467	.	332;319;332	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	S	332;288;332;319	ENSP00000231751:R332S;ENSP00000405719:R288S;ENSP00000405546:R332S;ENSP00000397427:R319S	ENSP00000231751:R332S	R	-	3	2	LTF	46466409	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.171000	0.09883	-0.314000	0.08716	-1.102000	0.02115	AGG		0.557	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		30	26	30	26	---	---	---	---
DAG1	1605	broad.mit.edu	37	3	49568992	49568992	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:49568992C>A	ENST00000539901.1	+	3	1606	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	DAG1_ENST00000515359.2_Missense_Mutation_p.P350T|DAG1_ENST00000538711.1_Missense_Mutation_p.P350T|DAG1_ENST00000541308.1_Missense_Mutation_p.P350T|DAG1_ENST00000308775.2_Missense_Mutation_p.P350T|DAG1_ENST00000545947.1_Missense_Mutation_p.P350T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	350	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATTGCTCCTCCAACAGAGAC	0.602																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(1048-1050)Cca>Aca		dystroglycan 1 (dystrophin-associated glycoprotein 1)							86.0	86.0	86.0					3																	49568992		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49568992C>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1048C>A	3.37:g.49568992C>A	ENSP00000439334:p.Pro350Thr					DAG1_ENST00000308775.2_Missense_Mutation_p.P350T|DAG1_ENST00000538711.1_Missense_Mutation_p.P350T|DAG1_ENST00000539901.1_Missense_Mutation_p.P350T|DAG1_ENST00000541308.1_Missense_Mutation_p.P350T|DAG1_ENST00000515359.2_Missense_Mutation_p.P350T	p.P350T	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1770	+			350			Mucin-like domain.|Required for laminin recognition.|Thr-rich.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.1048C>A	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923045	0.52653	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.74	5.74	0.90152	.	0.048809	0.85682	D	0.000000	T	0.36441	0.0967	L	0.35723	1.085	0.48975	D	0.999731	P	0.36027	0.533	B	0.34590	0.186	T	0.07177	-1.0786	9	.	.	.	-11.4638	18.6912	0.91583	0.0:1.0:0.0:0.0	.	350	Q14118	DAG1_HUMAN	T	350	ENSP00000440705:P350T;ENSP00000312435:P350T;ENSP00000442600:P350T;ENSP00000440590:P350T;ENSP00000439334:P350T;ENSP00000438421:P350T	.	P	+	1	0	DAG1	49543996	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.925000	0.48884	2.702000	0.92279	0.655000	0.94253	CCA		0.602	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			7	184	7	184	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107491592	107491592	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:107491592A>G	ENST00000325805.8	+	11	1311	c.1024A>G	c.(1024-1026)Atg>Gtg	p.M342V	BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000415149.2_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	342					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAATTAAAATGGAGAAAAC	0.323																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1024-1026)Atg>Gtg		bobby sox homolog (Drosophila)							59.0	70.0	66.0					3																	107491592		2184	4291	6475	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491592A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1024A>G	3.37:g.107491592A>G	ENSP00000319974:p.Met342Val					BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000325805.8_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron	p.M342V	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1351	+			342					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1024A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	0.091	-1.166944	0.01660	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98120	-4.31;-4.3;-4.32;-4.73;-4.31	6.16	1.57	0.23409	.	0.769288	0.13349	N	0.394580	D	0.89876	0.6842	N	0.05124	-0.11	0.19300	N	0.999977	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.79393	-0.1822	10	0.02654	T	1	0.235	7.4231	0.27083	0.5577:0.0:0.4423:0.0	.	342;342;342	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	V	342;193;342;342;342;342	ENSP00000408358:M342V;ENSP00000385317:M342V;ENSP00000319974:M342V;ENSP00000385518:M342V;ENSP00000385530:M342V	ENSP00000319742:M193V	M	+	1	0	BBX	108974282	0.998000	0.40836	0.979000	0.43373	0.811000	0.45836	0.379000	0.20585	-0.028000	0.13850	0.528000	0.53228	ATG		0.323	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		82	101	82	101	---	---	---	---
B4GALT4	8702	broad.mit.edu	37	3	118937533	118937533	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:118937533C>A	ENST00000483209.1	-	6	1402	c.761G>T	c.(760-762)tGg>tTg	p.W254L	B4GALT4_ENST00000359213.3_Missense_Mutation_p.W254L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Missense_Mutation_p.W254L|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000467604.1_Missense_Mutation_p.W254L			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	254					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCCCCATCCCCAGTAGTTGTT	0.512																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(760-762)tGg>tTg		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						144.0	137.0	139.0					3																	118937533		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118937533C>A	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.761G>T	3.37:g.118937533C>A	ENSP00000420161:p.Trp254Leu					B4GALT4_ENST00000483209.1_Missense_Mutation_p.W254L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.W254L|B4GALT4_ENST00000393765.2_Missense_Mutation_p.W254L|B4GALT4_ENST00000460321.1_Intron	p.W254L			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	6	1152	-			254					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.761G>T	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502119	0.96371	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93440	0.6793	10	0.87932	D	0	-11.2116	19.2959	0.94122	0.0:1.0:0.0:0.0	.	254	O60513	B4GT4_HUMAN	L	254	ENSP00000420161:W254L;ENSP00000417226:W254L;ENSP00000352144:W254L;ENSP00000377360:W254L	ENSP00000352144:W254L	W	-	2	0	B4GALT4	120420223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.805000	0.86005	2.813000	0.96785	0.543000	0.68304	TGG		0.512	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		5	131	5	131	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184922218	184922218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:184922218G>T	ENST00000231887.3	-	6	971	c.896C>A	c.(895-897)tCa>tAa	p.S299*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.S203*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	299	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			AACACCAACTGAGGAGACAGG	0.488																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(895-897)tCa>tAa		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						95.0	89.0	91.0					3																	184922218		2203	4300	6503	SO:0001587	stop_gained	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922218G>T	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.896C>A	3.37:g.184922218G>T	ENSP00000231887:p.Ser299*					EHHADH_ENST00000456310.1_Nonsense_Mutation_p.S203*	p.S299*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	971	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		299			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	ENST00000231887.3	37	c.896C>A	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393267	0.96009	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	.	.	.	5.53	4.65	0.58169	.	0.409853	0.25526	N	0.030074	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7771	9.2973	0.37824	0.0783:0.0:0.7783:0.1434	.	.	.	.	X	299;299;203	.	ENSP00000231887:S299X	S	-	2	0	EHHADH	186404912	0.927000	0.31430	0.997000	0.53966	0.272000	0.26649	1.467000	0.35321	2.611000	0.88343	0.650000	0.86243	TCA		0.488	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			5	111	5	111	---	---	---	---
MAPK10	5602	broad.mit.edu	37	4	86938398	86938398	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr4:86938398G>T	ENST00000359221.3	-	14	1904	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.L422M|MAPK10_ENST00000449047.2_Missense_Mutation_p.L315M|MAPK10_ENST00000361569.2_3'UTR|MAPK10_ENST00000395157.3_Missense_Mutation_p.L315M|MAPK10_ENST00000395169.3_Missense_Mutation_p.L422M			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	460					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAACAACCCAGGGGTCCTGCC	0.577																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(1264-1266)Ctg>Atg		mitogen-activated protein kinase 10							92.0	94.0	93.0					4																	86938398		2203	4300	6503	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:86938398G>T	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1378C>A	4.37:g.86938398G>T	ENSP00000352157:p.Leu460Met					MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.L422M|MAPK10_ENST00000395157.3_Missense_Mutation_p.L315M|MAPK10_ENST00000449047.2_Missense_Mutation_p.L315M|MAPK10_ENST00000359221.3_Missense_Mutation_p.L460M|MAPK10_ENST00000361569.2_3'UTR	p.L422M	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	14	1984	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	460					A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.1264C>A	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247456	0.80024	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000395166;ENST00000449047	T;T;T;T;T	0.81078	-0.99;-0.99;-1.45;-0.99;-0.93	5.65	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.80894	0.4711	M	0.65975	2.015	0.80722	D	1	B;B;P	0.36753	0.414;0.407;0.568	B;B;B	0.39152	0.153;0.292;0.21	T	0.83084	-0.0136	10	0.87932	D	0	-13.2514	15.1662	0.72828	0.0679:0.0:0.9321:0.0	.	315;422;460	Q499Y8;P53779-3;P53779	.;.;MK10_HUMAN	M	422;460;315;422;315	ENSP00000378598:L422M;ENSP00000352157:L460M;ENSP00000378586:L315M;ENSP00000378595:L422M;ENSP00000414469:L315M	ENSP00000352157:L460M	L	-	1	2	MAPK10	87157422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.492000	0.66893	1.596000	0.50062	0.655000	0.94253	CTG		0.577	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			6	134	6	134	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229692	140229692	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:140229692C>T	ENST00000532602.1	+	1	2645	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R538C|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACGCGGG	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1612-1614)Cgc>Tgc									59.0	67.0	64.0					5																	140229692		2195	4269	6464	SO:0001583	missense	9752							g.chr5:140229692C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1612C>T	5.37:g.140229692C>T	ENSP00000436042:p.Arg538Cys					PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.R538C	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2336	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1612C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783281	0.31593	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.54866	0.55;0.55	3.56	2.69	0.31865	Cadherin (5);Cadherin-like (1);	0.000000	0.31660	U	0.007279	T	0.56587	0.1995	L	0.46819	1.47	0.30351	N	0.784816	B;D	0.89917	0.435;1.0	B;P	0.62014	0.082;0.897	T	0.56733	-0.7930	10	0.72032	D	0.01	.	5.4878	0.16759	0.5013:0.4002:0.0:0.0985	.	538;538	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	C	538	ENSP00000436042:R538C;ENSP00000367362:R538C	ENSP00000367362:R538C	R	+	1	0	PCDHA9	140209876	0.000000	0.05858	1.000000	0.80357	0.764000	0.43329	-1.950000	0.01530	0.834000	0.34852	-0.676000	0.03789	CGC		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		105	129	105	129	---	---	---	---
RAB24	53917	broad.mit.edu	37	5	176730072	176730072	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:176730072C>A	ENST00000303251.6	-	2	543	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	RAB24_ENST00000303270.6_Missense_Mutation_p.G13W|PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.G42W|PRELID1_ENST00000303204.4_5'Flank	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	42					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGCGGCCCCGATGGTCTGC	0.622																																						ENST00000303270.6																			0											c.(37-39)Ggg>Tgg		RAB24, member RAS oncogene family							38.0	44.0	42.0					5																	176730072		2203	4300	6503	SO:0001583	missense	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176730072C>A	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.124G>T	5.37:g.176730072C>A	ENSP00000304376:p.Gly42Trp					RAB24_ENST00000303251.6_Missense_Mutation_p.G42W|RAB24_ENST00000393611.2_Missense_Mutation_p.G42W	p.G13W			Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	639	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	42					Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	c.37G>T	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984276	0.74474	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270;ENST00000504395	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.22	4.34	0.51931	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.93805	0.8019	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95200	0.8316	10	0.87932	D	0	-6.9553	12.8525	0.57864	0.0:0.92:0.0:0.08	.	42;13	Q969Q5;F8W8H5	RAB24_HUMAN;.	W	42;42;13;42	ENSP00000377235:G42W;ENSP00000304376:G42W;ENSP00000302085:G13W;ENSP00000421442:G42W	ENSP00000304376:G42W	G	-	1	0	RAB24	176662678	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.993000	0.63895	2.425000	0.82216	0.484000	0.47621	GGG		0.622	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		4	54	4	54	---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7373784	7373784	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:7373784C>T	ENST00000512086.1	-	5	1470	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000502583.1_Missense_Mutation_p.R423K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K|CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	423										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTCATGTACCTTTCCTGTAA	0.348																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1267-1269)aGg>aAg		cancer antigen 1							110.0	97.0	101.0					6																	7373784		1863	4098	5961	SO:0001583	missense	285782							g.chr6:7373784C>T	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1268G>A	6.37:g.7373784C>T	ENSP00000427583:p.Arg423Lys					CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K	p.R423K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	1832	-	Ovarian(93;0.0418)		423					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1268G>A		.	.	.	.	.	.	.	.	.	.	C	6.245	0.413283	0.11812	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.66	3.56	0.40772	.	0.268243	0.32488	N	0.006037	T	0.07954	0.0199	L	0.35854	1.095	0.23645	N	0.997213	B;B;B	0.28350	0.208;0.084;0.208	B;B;B	0.23574	0.038;0.022;0.047	T	0.21415	-1.0246	10	0.17832	T	0.49	-7.2448	8.8897	0.35425	0.0:0.8034:0.0:0.1966	.	423;423;423	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	K	423;423;423;287;423;423;423;435	ENSP00000369250:R423K;ENSP00000425493:R423K;ENSP00000296742:R287K;ENSP00000427583:R423K;ENSP00000338107:R423K;ENSP00000423789:R435K	ENSP00000296742:R287K	R	-	2	0	CAGE1	7318783	0.063000	0.20901	0.827000	0.32855	0.053000	0.15095	0.107000	0.15375	1.394000	0.46624	0.591000	0.81541	AGG		0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		43	50	43	50	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30857097	30857097	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:30857097C>A	ENST00000324771.8	+	6	855	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	DDR1_ENST00000454612.2_Missense_Mutation_p.Q103K|DDR1_ENST00000452441.1_Missense_Mutation_p.Q103K|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.Q103K|DDR1_ENST00000418800.2_Missense_Mutation_p.Q103K|DDR1_ENST00000446312.1_Missense_Mutation_p.Q103K|DDR1_ENST00000513240.1_Missense_Mutation_p.Q103K|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000376568.3_Missense_Mutation_p.Q103K|DDR1_ENST00000376569.3_Missense_Mutation_p.Q103K|DDR1_ENST00000376567.2_Missense_Mutation_p.Q103K|DDR1_ENST00000508312.1_Missense_Mutation_p.Q121K|DDR1_ENST00000376570.4_Missense_Mutation_p.Q103K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	103	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGTGGGCACCCAGGGACGGCA	0.672																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(307-309)Cag>Aag		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						78.0	79.0	78.0					6																	30857097		1511	2708	4219	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30857097C>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.307C>A	6.37:g.30857097C>A	ENSP00000318217:p.Gln103Lys					DDR1_ENST00000376568.3_Missense_Mutation_p.Q103K|DDR1_ENST00000454612.2_Missense_Mutation_p.Q103K|DDR1_ENST00000513240.1_Missense_Mutation_p.Q103K|DDR1_ENST00000452441.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376570.4_Missense_Mutation_p.Q103K|DDR1_ENST00000376569.3_Missense_Mutation_p.Q103K|DDR1_ENST00000508312.1_Missense_Mutation_p.Q121K|DDR1_ENST00000376575.3_Missense_Mutation_p.Q103K|DDR1_ENST00000418800.2_Missense_Mutation_p.Q103K|DDR1_ENST00000376567.2_Missense_Mutation_p.Q103K|DDR1_ENST00000446312.1_Missense_Mutation_p.Q103K	p.Q103K			Q08345	DDR1_HUMAN			6	855	+			103			F5/8 type C.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.307C>A	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.060809|5.060809	0.93846|0.93846	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000424544|ENST00000505066;ENST00000460944;ENST00000324771;ENST00000508317;ENST00000418800;ENST00000509639;ENST00000454612;ENST00000437124;ENST00000396342;ENST00000512694;ENST00000515233;ENST00000376569;ENST00000511510;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000504927;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000512336;ENST00000421124;ENST00000512725;ENST00000504679;ENST00000503495;ENST00000376567;ENST00000513240	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.99201	.|-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55	4.81|4.81	4.81|4.81	0.61882|0.61882	.|Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99579|0.99579	0.9848|0.9848	H|H	0.97340|0.97340	3.985|3.985	0.80722|0.80722	D|D	1|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;1.0;1.0;1.0;0.999	D|D	0.97839|0.97839	1.0267|1.0267	5|10	.|0.87932	.|D	.|0	.|.	15.4233|15.4233	0.75031|0.75031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|103;129;121;103;103	.|Q08345-4;B7Z3A2;B7Z2K0;Q08345-5;Q08345	.|.;.;.;.;DDR1_HUMAN	Q|K	86|103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;121;103;103;103;103;129;103;103	.|ENSP00000421189:Q103K;ENSP00000426420:Q103K;ENSP00000318217:Q103K;ENSP00000427369:Q103K;ENSP00000407699:Q103K;ENSP00000422331:Q103K;ENSP00000406091:Q103K;ENSP00000394273:Q103K;ENSP00000379631:Q103K;ENSP00000426229:Q103K;ENSP00000422467:Q103K;ENSP00000365753:Q103K;ENSP00000425113:Q103K;ENSP00000365759:Q103K;ENSP00000365754:Q103K;ENSP00000405998:Q103K;ENSP00000427597:Q103K;ENSP00000390593:Q103K;ENSP00000365752:Q103K;ENSP00000405039:Q103K;ENSP00000422442:Q121K;ENSP00000421719:Q103K;ENSP00000409682:Q103K;ENSP00000422108:Q103K;ENSP00000423906:Q103K;ENSP00000423749:Q129K;ENSP00000365751:Q103K;ENSP00000427552:Q103K	.|ENSP00000318217:Q103K	P|Q	+|+	2|1	0|0	DDR1|DDR1	30965076|30965076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.636000|7.636000	0.83301|0.83301	2.476000|2.476000	0.83614|0.83614	0.305000|0.305000	0.20034|0.20034	CCA|CAG		0.672	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		5	130	5	130	---	---	---	---
CUL7	9820	broad.mit.edu	37	6	43006645	43006645	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:43006645C>A	ENST00000265348.3	-	23	4460	c.4375G>T	c.(4375-4377)Ggg>Tgg	p.G1459W	CUL7_ENST00000535468.1_Missense_Mutation_p.G1543W|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7	1459					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTCTGGTTCCCAAACTGCAGC	0.637																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(4627-4629)Ggg>Tgg		cullin 7							85.0	75.0	78.0					6																	43006645		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006645C>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4375G>T	6.37:g.43006645C>A	ENSP00000265348:p.Gly1459Trp					CUL7_ENST00000265348.3_Missense_Mutation_p.G1459W	p.G1543W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		23	4713	-			1459					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4627G>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113847	0.77210	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.82526	-1.62;-1.62	4.53	4.53	0.55603	Cullin, N-terminal (1);Cullin homology (2);	0.072568	0.53938	D	0.000050	D	0.88209	0.6375	M	0.69823	2.125	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89536	0.3789	10	0.87932	D	0	-24.1443	14.0362	0.64646	0.0:0.8484:0.1516:0.0	.	1543;1459;1543;1459	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	W	1459;1543	ENSP00000265348:G1459W;ENSP00000438788:G1543W	ENSP00000265348:G1459W	G	-	1	0	CUL7	43114623	0.942000	0.31987	1.000000	0.80357	0.992000	0.81027	3.885000	0.56182	2.356000	0.79943	0.655000	0.94253	GGG		0.637	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		6	80	6	80	---	---	---	---
PRKAG2	51422	broad.mit.edu	37	7	151573651	151573651	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr7:151573651C>A	ENST00000287878.4	-	1	559	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PRKAG2-AS1_ENST00000467458.1_RNA|PRKAG2-AS1_ENST00000464464.1_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	19					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CCGCCGCTCCCGCCGGGGCTG	0.587																																						ENST00000287878.4																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(55-57)Ggg>Tgg		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							74.0	78.0	77.0					7																	151573651		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151573651C>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.55G>T	7.37:g.151573651C>A	ENSP00000287878:p.Gly19Trp						p.G19W	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	1	559	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	19					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.55G>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919379	0.73098	.	.	ENSG00000106617	ENST00000287878	D	0.89485	-2.52	4.12	4.12	0.48240	.	0.459161	0.19798	N	0.105801	D	0.88518	0.6458	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.89531	0.3785	10	0.87932	D	0	.	11.8161	0.52211	0.0:1.0:0.0:0.0	.	19;19	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	W	19	ENSP00000287878:G19W	ENSP00000287878:G19W	G	-	1	0	PRKAG2	151204584	0.857000	0.29778	1.000000	0.80357	0.991000	0.79684	1.356000	0.34079	2.140000	0.66376	0.449000	0.29647	GGG		0.587	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		5	90	5	90	---	---	---	---
SH2D4A	63898	broad.mit.edu	37	8	19190527	19190527	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:19190527G>T	ENST00000265807.3	+	3	654	c.243G>T	c.(241-243)atG>atT	p.M81I	SH2D4A_ENST00000518040.1_Missense_Mutation_p.M36I|SH2D4A_ENST00000519207.1_Missense_Mutation_p.M81I	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	81					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TATGGGTGATGGGCGAACACC	0.448																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(241-243)atG>atT		SH2 domain containing 4A							165.0	158.0	161.0					8																	19190527		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19190527G>T	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.243G>T	8.37:g.19190527G>T	ENSP00000265807:p.Met81Ile					SH2D4A_ENST00000518040.1_Missense_Mutation_p.M36I|SH2D4A_ENST00000519207.1_Missense_Mutation_p.M81I	p.M81I	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	3	654	+			81					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.243G>T	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053447	0.75960	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;T;T;T	0.13420	2.7;2.59;2.7;2.7	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	M	0.66506	2.035	0.80722	D	1	P;P	0.51791	0.935;0.948	P;P	0.50860	0.575;0.652	T	0.00662	-1.1621	10	0.49607	T	0.09	.	16.7373	0.85449	0.0:0.0:1.0:0.0	.	36;81	B4DDR1;Q9H788	.;SH24A_HUMAN	I	81;36;81;67	ENSP00000265807:M81I;ENSP00000429482:M36I;ENSP00000428684:M81I;ENSP00000428048:M67I	ENSP00000265807:M81I	M	+	3	0	SH2D4A	19234807	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.370000	0.79589	2.556000	0.86216	0.455000	0.32223	ATG		0.448	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		5	132	5	132	---	---	---	---
CPNE3	8895	broad.mit.edu	37	8	87549807	87549807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:87549807C>A	ENST00000521271.1	+	7	638	c.476C>A	c.(475-477)tCa>tAa	p.S159*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	159	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTTGGAAAGTCAGACCCATAC	0.403																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(475-477)tCa>tAa		copine III							124.0	113.0	117.0					8																	87549807		2203	4300	6503	SO:0001587	stop_gained	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87549807C>A	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.476C>A	8.37:g.87549807C>A	ENSP00000430934:p.Ser159*					CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			7	638	+			159			C2 2.		A8KA47|Q8IYA1	Nonsense_Mutation	SNP	ENST00000521271.1	37	c.476C>A	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	38	6.658862	0.97743	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2591	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000198765:S159X	S	+	2	0	CPNE3	87618923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.783000	0.95769	0.655000	0.94253	TCA		0.403	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			28	43	28	43	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95942872	95942872	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:95942872G>T	ENST00000342697.4	-	4	965	c.558C>A	c.(556-558)ccC>ccA	p.P186P	TP53INP1_ENST00000378776.4_Intron|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	186					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GAAAGCTCTTGGGTTGTTCCA	0.438																																						ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(556-558)ccC>ccA		tumor protein p53 inducible nuclear protein 1							147.0	154.0	151.0					8																	95942872		2203	4300	6503	SO:0001819	synonymous_variant	94241				apoptosis	PML body		g.chr8:95942872G>T	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.558C>A	8.37:g.95942872G>T						NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Intron	p.P186P	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			4	965	-	Breast(36;8.75e-07)		186					B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.558C>A	CCDS6265.1																																																																																				0.438	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			7	287	7	287	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35555387	35555387	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr9:35555387C>A	ENST00000455600.1	+	3	2914	c.2345C>A	c.(2344-2346)cCc>cAc	p.P782H		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	782						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTACTCCCCCATCCGGAGT	0.662																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2344-2346)cCc>cAc		RUN and SH3 domain containing 2							79.0	86.0	84.0					9																	35555387		2202	4300	6502	SO:0001583	missense	9853					cytosol		g.chr9:35555387C>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2345C>A	9.37:g.35555387C>A	ENSP00000393922:p.Pro782His						p.P782H	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2914	+			782					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2345C>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902005	0.72754	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.56275	0.47;0.47	4.22	4.22	0.49857	.	0.137606	0.49916	D	0.000139	T	0.62816	0.2459	L	0.34521	1.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.68085	-0.5502	10	0.87932	D	0	-12.1081	15.9317	0.79668	0.0:1.0:0.0:0.0	.	782	Q8N2Y8	RUSC2_HUMAN	H	782	ENSP00000355177:P782H;ENSP00000393922:P782H	ENSP00000355177:P782H	P	+	2	0	RUSC2	35545387	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.035000	0.64158	2.055000	0.61198	0.563000	0.77884	CCC		0.662	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	209	8	209	---	---	---	---
WAC	51322	broad.mit.edu	37	10	28822945	28822945	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:28822945G>A	ENST00000354911.4	+	2	221	c.60G>A	c.(58-60)ggG>ggA	p.G20G	WAC_ENST00000375646.1_5'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000347934.4_Silent_p.G20G|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000375664.4_5'UTR|WAC-AS1_ENST00000528337.1_RNA|WAC_ENST00000532233.1_3'UTR	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	20					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACCGGAGGGGGGACTCGCAGC	0.677																																						ENST00000354911.4																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(58-60)ggG>ggA		WW domain containing adaptor with coiled-coil							25.0	31.0	29.0					10																	28822945		2202	4299	6501	SO:0001819	synonymous_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28822945G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.60G>A	10.37:g.28822945G>A						WAC_ENST00000347934.4_Silent_p.G20G|WAC_ENST00000375664.4_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR	p.G20G	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN			2	221	+			20					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	37	c.60G>A	CCDS7159.1																																																																																				0.677	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		4	89	4	89	---	---	---	---
UNC5B	219699	broad.mit.edu	37	10	73047379	73047379	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:73047379C>T	ENST00000335350.6	+	6	1174	c.758C>T	c.(757-759)gCa>gTa	p.A253V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	253	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCCAGCTGGGCAGAGTGGTCA	0.667																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(757-759)gCa>gTa		unc-5 homolog B (C. elegans)							56.0	58.0	57.0					10																	73047379		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73047379C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.758C>T	10.37:g.73047379C>T	ENSP00000334329:p.Ala253Val					UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			6	1174	+			253			TSP type-1 1.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.758C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.624259	0.87560	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.18810	2.19;2.19	5.16	5.16	0.70880	.	0.174103	0.51477	D	0.000090	T	0.27967	0.0689	L	0.54323	1.7	0.49582	D	0.999801	B;B	0.24675	0.089;0.109	B;B	0.30105	0.068;0.111	T	0.08411	-1.0723	10	0.87932	D	0	-6.4985	18.7239	0.91705	0.0:1.0:0.0:0.0	.	253;253	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	253	ENSP00000334329:A253V;ENSP00000362288:A253V	ENSP00000334329:A253V	A	+	2	0	UNC5B	72717385	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.084000	0.71335	2.433000	0.82419	0.537000	0.68136	GCA		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		42	68	42	68	---	---	---	---
SFR1	119392	broad.mit.edu	37	10	105883828	105883828	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:105883828G>T	ENST00000369727.3	+	3	511	c.492G>T	c.(490-492)caG>caT	p.Q164H	SFR1_ENST00000336358.5_Missense_Mutation_p.Q226H|SFR1_ENST00000369729.3_Missense_Mutation_p.Q151H	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	164					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											AGCAGGTTCAGGAGAAAGAAG	0.363																																						ENST00000336358.5																			0											c.(676-678)caG>caT		SWI5-dependent recombination repair 1							42.0	44.0	43.0					10																	105883828		2203	4300	6503	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105883828G>T	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.492G>T	10.37:g.105883828G>T	ENSP00000358742:p.Gln164His					SFR1_ENST00000369729.3_Missense_Mutation_p.Q151H|SFR1_ENST00000369727.3_Missense_Mutation_p.Q164H	p.Q226H			Q86XK3	SFR1_HUMAN			2	1197	+			164					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.678G>T	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328704	0.41197	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.50277	0.79;0.78;0.75	5.72	1.17	0.20885	.	0.337483	0.32578	N	0.005910	T	0.52917	0.1764	L	0.58101	1.795	0.26075	N	0.981166	D;B	0.57571	0.98;0.134	P;B	0.58873	0.847;0.073	T	0.42396	-0.9454	10	0.72032	D	0.01	-0.3447	5.7996	0.18406	0.3128:0.0:0.5486:0.1385	.	226;164	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	H	151;164;226	ENSP00000358744:Q151H;ENSP00000358742:Q164H;ENSP00000338089:Q226H	ENSP00000338089:Q226H	Q	+	3	2	SFR1	105873818	0.866000	0.29940	0.886000	0.34754	0.995000	0.86356	0.134000	0.15932	0.420000	0.25954	0.655000	0.94253	CAG		0.363	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		4	40	4	40	---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124271537	124271537	+	Silent	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:124271537A>G	ENST00000368984.3	+	8	1358	c.1230A>G	c.(1228-1230)tcA>tcG	p.S410S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	410	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACGTGATCTCAGGAGCGTATA	0.493																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1228-1230)tcA>tcG		HtrA serine peptidase 1							93.0	94.0	94.0					10																	124271537		2203	4300	6503	SO:0001819	synonymous_variant	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124271537A>G	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1230A>G	10.37:g.124271537A>G							p.S410S	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			8	1358	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	410			PDZ.		D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	c.1230A>G	CCDS7630.1																																																																																				0.493	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		3	88	3	88	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62288981	62288981	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:62288981G>T	ENST00000378024.4	-	5	13182	c.12908C>A	c.(12907-12909)cCt>cAt	p.P4303H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4303					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTACATCAGGGGCATCGAT	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12907-12909)cCt>cAt		AHNAK nucleoprotein							175.0	177.0	176.0					11																	62288981		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288981G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12908C>A	11.37:g.62288981G>T	ENSP00000367263:p.Pro4303His					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P4303H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13182	-		Melanoma(852;0.155)	4303					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12908C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	11.15	1.553666	0.27739	.	.	ENSG00000124942	ENST00000378024	T	0.02944	4.1	5.11	4.19	0.49359	.	0.000000	0.40908	D	0.000989	T	0.26159	0.0638	H	0.97564	4.03	0.36645	D	0.877048	D	0.89917	1.0	D	0.91635	0.999	T	0.57201	-0.7852	10	0.66056	D	0.02	.	14.6029	0.68453	0.0:0.0:0.8526:0.1474	.	4303	Q09666	AHNK_HUMAN	H	4303	ENSP00000367263:P4303H	ENSP00000367263:P4303H	P	-	2	0	AHNAK	62045557	1.000000	0.71417	0.431000	0.26735	0.003000	0.03518	4.828000	0.62730	1.134000	0.42165	-0.202000	0.12741	CCT		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	360	8	360	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118516357	118516357	+	Silent	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:118516357C>T	ENST00000361417.2	+	17	3816	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D	PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000356063.5_Silent_p.D1088D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1135										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTCCCCTGACAACATGTCCA	0.642																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3403-3405)gaC>gaT		pleckstrin homology-like domain, family B, member 1							82.0	78.0	79.0					11																	118516357		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118516357C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3405C>T	11.37:g.118516357C>T						PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000534672.1_3'UTR	p.D1135D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	17	3816	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1135					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.3405C>T	CCDS8401.1																																																																																				0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		34	54	34	54	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130319507	130319507	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:130319507C>A	ENST00000299164.2	+	1	639	c.639C>A	c.(637-639)ttC>ttA	p.F213L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	213						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCAAGCGTTTCGTGTCTATCC	0.667																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(637-639)ttC>ttA		ADAM metallopeptidase with thrombospondin type 1 motif, 15							32.0	28.0	30.0					11																	130319507		2196	4292	6488	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130319507C>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.639C>A	11.37:g.130319507C>A	ENSP00000299164:p.Phe213Leu						p.F213L	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	1	639	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	213					Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.639C>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040361	0.93630	.	.	ENSG00000166106	ENST00000299164	T	0.59638	0.25	5.21	4.28	0.50868	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.54498	0.1862	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.53107	-0.8485	9	0.26408	T	0.33	.	13.2562	0.60081	0.0:0.8694:0.0:0.1306	.	213	Q8TE58	ATS15_HUMAN	L	213	ENSP00000299164:F213L	ENSP00000299164:F213L	F	+	3	2	ADAMTS15	129824717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.191000	0.32138	2.589000	0.87451	0.655000	0.94253	TTC		0.667	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		3	18	3	18	---	---	---	---
LEPREL2	10536	broad.mit.edu	37	12	6943162	6943162	+	RNA	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:6943162G>T	ENST00000538102.1	+	0	557				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGGCGGTGTTGGATGGGCTGC	0.587																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2																																						10536							g.chr12:6943162G>T	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6943162G>T						LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2					0	1440	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37			.	.	.	.	.	.	.	.	.	.	G	13.39	2.222073	0.39300	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.71817	-0.6;-0.6	4.72	2.85	0.33270	Prolyl 4-hydroxylase, alpha subunit (1);	0.142126	0.47455	D	0.000229	T	0.52322	0.1727	.	.	.	0.44323	D	0.997202	B	0.33549	0.417	B	0.25884	0.064	T	0.48305	-0.9047	9	0.49607	T	0.09	-20.1236	3.7448	0.08544	0.1564:0.129:0.5821:0.1325	.	469	Q8IVL6	P3H3_HUMAN	F	468;284	ENSP00000379951:L468F;ENSP00000290510:L284F	ENSP00000290510:L284F	L	+	3	2	LEPREL2	6813423	1.000000	0.71417	0.906000	0.35671	0.991000	0.79684	0.766000	0.26560	0.569000	0.29329	0.561000	0.74099	TTG		0.587	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		5	125	5	125	---	---	---	---
HIGD1C	613227	broad.mit.edu	37	12	51347860	51347860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:51347860C>A	ENST00000398455.3	+	1	156	c.79C>A	c.(79-81)Ccc>Acc	p.P27T		NM_001109619.1	NP_001103089.1	A8MV81	HIG1C_HUMAN	HIG1 hypoxia inducible domain family, member 1C	27	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)				lung(1)	1						TAGAGACTCCCCCTTTGTCCC	0.418																																						ENST00000398455.3																			0				lung(1)	1						c.(79-81)Ccc>Acc		HIG1 hypoxia inducible domain family, member 1C							109.0	106.0	107.0					12																	51347860		1869	4117	5986	SO:0001583	missense	613227					integral to membrane		g.chr12:51347860C>A	DQ029494	CCDS44882.1	12q13.12	2011-09-16	2009-03-17		ENSG00000214511	ENSG00000214511			28044	protein-coding gene	gene with protein product			"""HIG1 domain family, member 1C"""				Standard	NM_001109619		Approved	Gm921	uc010smw.2	A8MV81	OTTHUMG00000169488	ENST00000398455.3:c.79C>A	12.37:g.51347860C>A	ENSP00000381473:p.Pro27Thr						p.P27T	NM_001109619.1	NP_001103089.1	A8MV81	HIG1C_HUMAN			1	156	+			27			HIG1.			Missense_Mutation	SNP	ENST00000398455.3	37	c.79C>A	CCDS44882.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805852	0.70682	.	.	ENSG00000214511	ENST00000398455	T	0.64260	-0.09	4.7	4.7	0.59300	Hypoxia induced protein, domain (2);	0.000000	0.64402	U	0.000004	T	0.80407	0.4617	.	.	.	0.51482	D	0.999927	D	0.89917	1.0	D	0.91635	0.999	D	0.83518	0.0084	9	0.87932	D	0	-7.4466	17.2473	0.87031	0.0:1.0:0.0:0.0	.	27	A8MV81	HIG1C_HUMAN	T	27	ENSP00000381473:P27T	ENSP00000381473:P27T	P	+	1	0	HIGD1C	49634127	0.924000	0.31332	0.987000	0.45799	0.944000	0.59088	4.336000	0.59304	2.528000	0.85240	0.585000	0.79938	CCC		0.418	HIGD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404340.2	NM_001109619		6	112	6	112	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66935631	66935631	+	Missense_Mutation	SNP	C	C	A	rs375701385		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:66935631C>A	ENST00000398016.3	-	3	304	c.236G>T	c.(235-237)aGa>aTa	p.R79I	GRIP1_ENST00000359742.4_Missense_Mutation_p.R79I|GRIP1_ENST00000286445.7_Missense_Mutation_p.R79I	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTAGATACTCTTGGCTTGCC	0.468																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(235-237)aGa>aTa		glutamate receptor interacting protein 1							238.0	239.0	239.0					12																	66935631		1919	4131	6050	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66935631C>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.236G>T	12.37:g.66935631C>A	ENSP00000381098:p.Arg79Ile					GRIP1_ENST00000398016.3_Missense_Mutation_p.R79I|GRIP1_ENST00000286445.7_Missense_Mutation_p.R79I	p.R79I			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	3	476	-			79			PDZ 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.236G>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331305	0.60853	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	N	0.20445	0.575	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.999	P;D;D	0.81914	0.726;0.995;0.967	T	0.09952	-1.0651	9	.	.	.	-21.2829	19.4655	0.94935	0.0:1.0:0.0:0.0	.	79;79;79	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	I	79;79;79;79;23;23;52;23;23;105	ENSP00000381098:R79I;ENSP00000352780:R79I;ENSP00000286445:R79I;ENSP00000446047:R79I;ENSP00000446024:R23I;ENSP00000446011:R23I;ENSP00000439124:R52I;ENSP00000438500:R23I;ENSP00000443392:R23I;ENSP00000438921:R105I	.	R	-	2	0	GRIP1	65221898	0.998000	0.40836	0.016000	0.15963	0.030000	0.12068	6.046000	0.71029	2.698000	0.92095	0.655000	0.94253	AGA		0.468	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			7	380	7	380	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71978504	71978504	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:71978504C>A	ENST00000266674.5	+	18	3025	c.2714C>A	c.(2713-2715)cCa>cAa	p.P905Q	LGR5_ENST00000536515.1_Missense_Mutation_p.P833Q|LGR5_ENST00000540815.2_Missense_Mutation_p.P881Q|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCATTTGTCCCATGTCTCTAA	0.428																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2713-2715)cCa>cAa		leucine-rich repeat containing G protein-coupled receptor 5							100.0	97.0	98.0					12																	71978504		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978504C>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2714C>A	12.37:g.71978504C>A	ENSP00000266674:p.Pro905Gln					LGR5_ENST00000536515.1_Missense_Mutation_p.P833Q|LGR5_ENST00000540815.2_Missense_Mutation_p.P881Q	p.P905Q			O75473	LGR5_HUMAN			18	3025	+			905					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2714C>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179264	0.78564	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.59083	0.35;0.29;0.39	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.76414	0.3984	M	0.72118	2.19	0.49582	D	0.999808	D;D	0.69078	0.997;0.995	D;P	0.67382	0.951;0.894	T	0.77000	-0.2750	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	881;905	O75473-2;O75473	.;LGR5_HUMAN	Q	905;833;881	ENSP00000266674:P905Q;ENSP00000443033:P833Q;ENSP00000441035:P881Q	ENSP00000266674:P905Q	P	+	2	0	LGR5	70264771	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.456000	0.73501	2.833000	0.97629	0.585000	0.79938	CCA		0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		5	163	5	163	---	---	---	---
BIVM	54841	broad.mit.edu	37	13	103492069	103492069	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:103492069A>C	ENST00000257336.1	+	11	2045	c.1366A>C	c.(1366-1368)Aat>Cat	p.N456H	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.Q427P|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H|BIVM_ENST00000419638.1_3'UTR	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	456						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAGTGAAGACAATATTTCCAA	0.458																																						ENST00000602836.1																			0											c.(1279-1281)cAa>cCa									114.0	109.0	111.0					13																	103492069		2203	4300	6503	SO:0001583	missense	100533467				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103492069A>C	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1366A>C	13.37:g.103492069A>C	ENSP00000257336:p.Asn456His					BIVM_ENST00000257336.1_Missense_Mutation_p.N456H|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H	p.Q427P	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			9	1280	+			0					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.1280A>C	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989833	0.74589	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000418659	.	.	.	5.4	5.4	0.78164	.	0.533626	0.19756	N	0.106787	T	0.59851	0.2224	L	0.36672	1.1	0.34907	D	0.747104	D;D;P	0.61080	0.989;0.976;0.547	P;P;B	0.58172	0.834;0.72;0.24	T	0.71431	-0.4595	9	0.72032	D	0.01	-6.1559	15.4412	0.75184	1.0:0.0:0.0:0.0	.	234;427;456	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	H	456;234;427	.	ENSP00000257336:N456H	N	+	1	0	ERCC5;BIVM	102290070	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	4.369000	0.59511	2.034000	0.60081	0.460000	0.39030	AAT		0.458	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			3	132	3	132	---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113732744	113732744	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:113732744G>A	ENST00000375608.3	+	15	1876	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	MCF2L_ENST00000397030.1_Silent_p.R609R|MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000535094.2_Silent_p.R576R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000375597.4_Silent_p.R574R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	606					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCTACCGGAGGGCCAAGGTGA	0.682																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1825-1827)agG>agA		MCF.2 cell line derived transforming sequence-like							35.0	38.0	37.0					13																	113732744		2200	4299	6499	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113732744G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1818G>A	13.37:g.113732744G>A						MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000535094.2_Silent_p.R576R	p.R609R			O15068	MCF2L_HUMAN			14	1864	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	606					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1827G>A		.	.	.	.	.	.	.	.	.	.	G	6.446	0.450364	0.12223	.	.	ENSG00000126217	ENST00000397017	.	.	.	4.06	-2.3	0.06785	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48768	-0.9006	4	.	.	.	.	9.1139	0.36746	0.5148:0.0:0.4852:0.0	.	.	.	.	S	237	.	.	G	+	1	0	MCF2L	112780745	0.959000	0.32827	0.959000	0.39883	0.552000	0.35366	-0.266000	0.08631	-0.569000	0.06030	-1.036000	0.02392	GGC		0.682	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			11	20	11	20	---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31858176	31858176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:31858176C>A	ENST00000389961.3	-	6	789	c.790G>T	c.(790-792)Gag>Tag	p.E264*	HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.E270*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439727.1_5'UTR|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.E270*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	264										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGAACTTCCTCCAAAGATACT	0.403																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(808-810)Gag>Tag		HEAT repeat containing 5A							70.0	52.0	57.0					14																	31858176		692	1591	2283	SO:0001587	stop_gained	25938						binding	g.chr14:31858176C>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.790G>T	14.37:g.31858176C>A	ENSP00000374611:p.Glu264*					HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.E270*|HEATR5A_ENST00000389961.3_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439727.1_5'UTR	p.E270*	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	7	992	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		264					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	ENST00000389961.3	37	c.808G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.779602	0.98486	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000543095;ENST00000404677	.	.	.	5.6	5.6	0.85130	.	0.109084	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.6017	0.95566	0.0:1.0:0.0:0.0	.	.	.	.	X	264;264;270;270	.	ENSP00000374611:E264X	E	-	1	0	HEATR5A	30927927	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.884000	0.69729	2.629000	0.89072	0.491000	0.48974	GAG		0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		4	52	4	52	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66188637	66188637	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:66188637G>T	ENST00000360689.5	+	8	2707	c.980G>T	c.(979-981)tGg>tTg	p.W327L	FUT8_ENST00000394585.1_Missense_Mutation_p.W327L|FUT8_ENST00000557164.1_Missense_Mutation_p.W164L|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.W327L|FUT8_ENST00000358307.2_Missense_Mutation_p.W198L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	327	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCAGTGTGGTGGGTGTCTCAG	0.483																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(979-981)tGg>tTg		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							166.0	147.0	154.0					14																	66188637		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66188637G>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.980G>T	14.37:g.66188637G>T	ENSP00000353910:p.Trp327Leu					FUT8_ENST00000394585.1_Missense_Mutation_p.W327L|FUT8_ENST00000557164.1_Missense_Mutation_p.W164L|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.W327L|FUT8_ENST00000358307.2_Missense_Mutation_p.W198L	p.W327L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	8	2707	+			327					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.980G>T	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615881	0.87359	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.94358	0.8186	M	0.78801	2.425	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.52627	0.612;0.704	D	0.94223	0.7469	10	0.51188	T	0.08	-5.6204	17.2877	0.87146	0.0:0.0:1.0:0.0	.	198;327	G3XAD2;Q9BYC5	.;FUT8_HUMAN	L	327;327;164;327;198	ENSP00000353910:W327L;ENSP00000378087:W327L;ENSP00000452433:W164L;ENSP00000378086:W327L;ENSP00000351057:W198L	ENSP00000351057:W198L	W	+	2	0	FUT8	65258390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.668000	0.90789	0.563000	0.77884	TGG		0.483	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		7	158	7	158	---	---	---	---
ACOT4	122970	broad.mit.edu	37	14	74060421	74060421	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:74060421C>A	ENST00000326303.4	+	2	727	c.473C>A	c.(472-474)cCa>cAa	p.P158Q		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	158					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGACCCTTCCCAGGGATCATT	0.448																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(472-474)cCa>cAa		acyl-CoA thioesterase 4							66.0	67.0	67.0					14																	74060421		2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060421C>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.473C>A	14.37:g.74060421C>A	ENSP00000323071:p.Pro158Gln						p.P158Q	NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	727	+			158					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.473C>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426792	0.83667	.	.	ENSG00000177465	ENST00000326303	T	0.74315	-0.83	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.94415	0.7635	10	0.87932	D	0	-7.8447	18.4245	0.90605	0.0:1.0:0.0:0.0	.	158	Q8N9L9	ACOT4_HUMAN	Q	158	ENSP00000323071:P158Q	ENSP00000323071:P158Q	P	+	2	0	ACOT4	73130174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.593000	0.74100	2.442000	0.82660	0.561000	0.74099	CCA		0.448	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		7	131	7	131	---	---	---	---
CLK3	1198	broad.mit.edu	37	15	74911652	74911652	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr15:74911652C>A	ENST00000395066.3	+	2	1020	c.559C>A	c.(559-561)Cga>Aga	p.R187R	CLK3_ENST00000348245.3_Silent_p.R39R|CLK3_ENST00000345005.4_Silent_p.R39R|CLK3_ENST00000352989.5_Silent_p.R39R	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	187	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						ATACCCGTCCCGAAGGGAGCC	0.592																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(559-561)Cga>Aga		CDC-like kinase 3							137.0	120.0	126.0					15																	74911652		2197	4296	6493	SO:0001819	synonymous_variant	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74911652C>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.559C>A	15.37:g.74911652C>A						CLK3_ENST00000348245.3_Silent_p.R39R|CLK3_ENST00000352989.5_Silent_p.R39R|CLK3_ENST00000345005.4_Silent_p.R39R	p.R187R	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			2	1020	+			187			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Silent	SNP	ENST00000395066.3	37	c.559C>A	CCDS45304.1																																																																																				0.592	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			4	121	4	121	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100821478	100821478	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr15:100821478C>A	ENST00000268070.4	-	4	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	249	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCCTCGGCCCCGTGGTACTGC	0.652																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(745-747)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							61.0	65.0	64.0					15																	100821478		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100821478C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.745G>T	15.37:g.100821478C>A	ENSP00000268070:p.Gly249Trp						p.G249W	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	4	850	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		249			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.745G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868260	0.91587	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.89343	-2.5	4.82	4.82	0.62117	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.066684	0.64402	D	0.000020	D	0.95211	0.8447	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96112	0.9078	10	0.87932	D	0	.	17.9188	0.88960	0.0:1.0:0.0:0.0	.	6;249	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	W	249;6	ENSP00000268070:G249W	ENSP00000268070:G249W	G	-	1	0	ADAMTS17	98639001	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.033000	0.76504	2.221000	0.72209	0.462000	0.41574	GGG		0.652	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		4	109	4	109	---	---	---	---
MPG	4350	broad.mit.edu	37	16	133168	133168	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:133168C>A	ENST00000219431.4	+	4	664	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	MPG_ENST00000397817.1_Missense_Mutation_p.R128S|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	145					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCAGACCCCCCGCAACCGAGG	0.602								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(433-435)Cgc>Agc	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							114.0	125.0	121.0					16																	133168		2203	4300	6503	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133168C>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.433C>A	16.37:g.133168C>A	ENSP00000219431:p.Arg145Ser					MPG_ENST00000397817.1_Missense_Mutation_p.R128S	p.R145S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			4	664	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	145					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.433C>A	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024268	0.54683	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.41	4.46	0.54185	Formyl transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.90019	3.08	0.52099	D	0.999943	P;P;P	0.45044	0.849;0.688;0.849	P;P;P	0.54346	0.749;0.645;0.645	T	0.59257	-0.7488	10	0.52906	T	0.07	-21.8467	13.1704	0.59595	0.0:0.923:0.0:0.077	.	128;140;145	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	S	128;128;140;145	ENSP00000388097:R128S;ENSP00000380918:R128S;ENSP00000348809:R140S;ENSP00000219431:R145S	ENSP00000219431:R145S	R	+	1	0	MPG	73168	0.995000	0.38212	1.000000	0.80357	0.971000	0.66376	3.113000	0.50376	1.283000	0.44513	0.462000	0.41574	CGC		0.602	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			6	250	6	250	---	---	---	---
SYT17	51760	broad.mit.edu	37	16	19195180	19195180	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:19195180G>A	ENST00000355377.2	+	5	1060	c.662G>A	c.(661-663)cGc>cAc	p.R221H	SYT17_ENST00000562034.1_Missense_Mutation_p.R160H|SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	221	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GATGGCTCGCGCCAGGACATG	0.612																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(478-480)cGc>cAc		synaptotagmin XVII							125.0	117.0	120.0					16																	19195180		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195180G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.662G>A	16.37:g.19195180G>A	ENSP00000347538:p.Arg221His					SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000355377.2_Missense_Mutation_p.R221H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H	p.R160H			Q9BSW7	SYT17_HUMAN			3	4277	+			221					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.479G>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.635711	0.87760	.	.	ENSG00000103528	ENST00000355377	T	0.19669	2.13	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	T	0.47948	0.1473	M	0.72479	2.2	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.69479	0.964;0.964	T	0.46190	-0.9209	10	0.72032	D	0.01	.	19.4403	0.94817	0.0:0.0:1.0:0.0	.	221;160	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	221	ENSP00000347538:R221H	ENSP00000347538:R221H	R	+	2	0	SYT17	19102681	0.997000	0.39634	0.998000	0.56505	0.257000	0.26127	5.043000	0.64208	2.592000	0.87571	0.457000	0.33378	CGC		0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		7	221	7	221	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55363122	55363122	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:55363122G>T	ENST00000290552.7	+	5	2564	c.1232G>T	c.(1231-1233)gGa>gTa	p.G411V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	411					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAAGCCTTTGGAAACCCCAAG	0.622																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1231-1233)gGa>gTa		iroquois homeobox 6							60.0	66.0	64.0					16																	55363122		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363122G>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1232G>T	16.37:g.55363122G>T	ENSP00000290552:p.Gly411Val					RP11-26L20.3_ENST00000558730.2_RNA	p.G411V	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2564	+			411					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.1232G>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677370	0.29783	.	.	ENSG00000159387	ENST00000290552	D	0.89939	-2.59	5.24	4.28	0.50868	.	0.922395	0.09263	N	0.826249	T	0.80093	0.4560	N	0.17082	0.46	0.52501	D	0.999952	B	0.10296	0.003	B	0.12156	0.007	T	0.70590	-0.4830	10	0.38643	T	0.18	-6.879	6.7949	0.23719	0.0893:0.0:0.7332:0.1774	.	411	P78412	IRX6_HUMAN	V	411	ENSP00000290552:G411V	ENSP00000290552:G411V	G	+	2	0	IRX6	53920623	0.974000	0.33945	0.995000	0.50966	0.483000	0.33249	2.940000	0.49003	1.176000	0.42840	0.561000	0.74099	GGA		0.622	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		49	80	49	80	---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88904133	88904133	+	Missense_Mutation	SNP	C	C	T	rs398123438		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:88904133C>T	ENST00000268695.5	-	5	551	c.463G>A	c.(463-465)Gga>Aga	p.G155R	GALNS_ENST00000542788.1_Missense_Mutation_p.G80R|GALNS_ENST00000565364.1_5'Flank	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	155	Catalytic domain.		G -> E (in MPS4A). {ECO:0000269|PubMed:16287098}.|G -> R (in MPS4A; severe form). {ECO:0000269|PubMed:24726177}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCATCAAATCCGTGCTTCAGG	0.572																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22	GRCh37	CM970584	GALNS	M		c.(463-465)Gga>Aga		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						102.0	93.0	96.0					16																	88904133		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88904133C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.463G>A	16.37:g.88904133C>T	ENSP00000268695:p.Gly155Arg					GALNS_ENST00000542788.1_Missense_Mutation_p.G80R	p.G155R	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	5	551	-			155		G -> E (in MPS4A).|G -> R (in MPS4A; severe form).			Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.463G>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.744701	0.89663	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.99732	-6.57;-6.57	5.18	5.18	0.71444	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96179	0.9129	10	0.87932	D	0	.	18.6864	0.91565	0.0:1.0:0.0:0.0	.	155;155	B2R6P1;P34059	.;GALNS_HUMAN	R	155;80	ENSP00000268695:G155R;ENSP00000438197:G80R	ENSP00000268695:G155R	G	-	1	0	GALNS	87431634	1.000000	0.71417	0.994000	0.49952	0.831000	0.47069	7.403000	0.79983	2.415000	0.81967	0.651000	0.88453	GGA		0.572	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			49	64	49	64	---	---	---	---
SCIMP	388325	broad.mit.edu	37	17	5126630	5126630	+	Missense_Mutation	SNP	C	C	A	rs201982608		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:5126630C>A	ENST00000574081.1	-	2	247	c.143G>T	c.(142-144)cGa>cTa	p.R48L	SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000399600.4_Intron|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.R48L|RP11-333E1.1_ENST00000575601.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	48					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											GCCATTACCTCGTCTAAGCTG	0.512																																						ENST00000574081.1																			0											c.(142-144)cGa>cTa		SLP adaptor and CSK interacting membrane protein							353.0	341.0	345.0					17																	5126630		2083	4218	6301	SO:0001583	missense	388325					integral to membrane		g.chr17:5126630C>A	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.143G>T	17.37:g.5126630C>A	ENSP00000461269:p.Arg48Leu					RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.R48L|SCIMP_ENST00000399600.4_Intron	p.R48L	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN			2	247	-			48					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.143G>T	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661016	0.29515	.	.	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.13	1.73	0.24493	.	0.358029	0.24224	N	0.040413	T	0.18002	0.0432	N	0.14661	0.345	0.22552	N	0.998991	B	0.12013	0.005	B	0.14578	0.011	T	0.14811	-1.0459	9	0.72032	D	0.01	-12.5417	3.7925	0.08726	0.0:0.1906:0.1889:0.6206	.	48	Q6UWF3	CQ087_HUMAN	L	48;37	.	ENSP00000382501:R37L	R	-	2	0	C17orf87	5067354	1.000000	0.71417	0.993000	0.49108	0.290000	0.27261	0.410000	0.21098	0.472000	0.27344	-0.238000	0.12139	CGA		0.512	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		7	511	7	511	---	---	---	---
PIPOX	51268	broad.mit.edu	37	17	27380589	27380589	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:27380589C>A	ENST00000323372.4	+	4	962	c.636C>A	c.(634-636)ccC>ccA	p.P212P	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	212					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TCCTCCGTCCCCTGGGCATTG	0.557																																						ENST00000323372.4																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(634-636)ccC>ccA		pipecolic acid oxidase	Glycine(DB00145)						65.0	62.0	63.0					17																	27380589		2203	4300	6503	SO:0001819	synonymous_variant	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27380589C>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.636C>A	17.37:g.27380589C>A						PIPOX_ENST00000583215.1_3'UTR	p.P212P	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		4	962	+	Lung NSC(42;0.015)		212					B3KNH0|Q96H28|Q9C070	Silent	SNP	ENST00000323372.4	37	c.636C>A	CCDS11248.1																																																																																				0.557	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		5	68	5	68	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40849614	40849614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:40849614C>A	ENST00000264638.4	+	22	3828	c.3611C>A	c.(3610-3612)cCa>cAa	p.P1204Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1204	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.P1204R(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TACAACACCCCAGGTTTCTCA	0.582																																						ENST00000264638.4																			1	Substitution - Missense(1)	p.P1204R(1)	NS(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3610-3612)cCa>cAa		contactin associated protein 1							104.0	97.0	100.0					17																	40849614		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40849614C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3611C>A	17.37:g.40849614C>A	ENSP00000264638:p.Pro1204Gln					CTD-3193K9.3_ENST00000592440.1_RNA	p.P1204Q	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	22	3828	+		Breast(137;0.000143)	1204			Laminin G-like 4.			Missense_Mutation	SNP	ENST00000264638.4	37	c.3611C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492196	0.64074	.	.	ENSG00000108797	ENST00000264638	T	0.77489	-1.1	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.091207	0.47455	D	0.000229	D	0.82926	0.5143	L	0.42245	1.32	0.54753	D	0.999985	D	0.71674	0.998	D	0.68621	0.959	T	0.77608	-0.2524	10	0.15066	T	0.55	.	18.9588	0.92670	0.0:1.0:0.0:0.0	.	1204	P78357	CNTP1_HUMAN	Q	1204	ENSP00000264638:P1204Q	ENSP00000264638:P1204Q	P	+	2	0	CNTNAP1	38103140	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.206000	0.77891	2.564000	0.86499	0.650000	0.86243	CCA		0.582	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		5	110	5	110	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40939533	40939533	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:40939533C>A	ENST00000246914.5	+	7	1735	c.1714C>A	c.(1714-1716)Cgc>Agc	p.R572S	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	572					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCCTTTTCCGCCACGCCAG	0.617																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1714-1716)Cgc>Agc		WNK lysine deficient protein kinase 4							164.0	170.0	168.0					17																	40939533		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939533C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1714C>A	17.37:g.40939533C>A	ENSP00000246914:p.Arg572Ser					WNK4_ENST00000587705.1_3'UTR	p.R572S	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1735	+		Breast(137;0.000143)	572					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1714C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996636	0.74818	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.73047	-0.71	4.98	4.98	0.66077	.	0.000000	0.47852	D	0.000213	T	0.77611	0.4156	L	0.48642	1.525	0.39354	D	0.965809	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.71414	0.973;0.94;0.94	T	0.78679	-0.2110	10	0.48119	T	0.1	-11.1971	12.1724	0.54165	0.1713:0.8287:0.0:0.0	.	572;572;572	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	S	572;344	ENSP00000246914:R572S	ENSP00000246914:R572S	R	+	1	0	WNK4	38193059	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.477000	0.53151	2.311000	0.77944	0.455000	0.32223	CGC		0.617	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			9	233	9	233	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696431	47696431	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:47696431C>G	ENST00000393328.2	-	6	757	c.392G>C	c.(391-393)tGg>tCg	p.W131S	SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.W131S|SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tGg>tCg		speckle-type POZ protein							121.0	123.0	123.0					17																	47696431		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696431C>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.392G>C	17.37:g.47696431C>G	ENSP00000377001:p.Trp131Ser	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S	p.W131S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	862	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.392G>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371067	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.83693	0.0178	10	0.49607	T	0.09	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	S	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131S;ENSP00000377004:W131S;ENSP00000240327:W131S;ENSP00000425905:W131S;ENSP00000420908:W131S;ENSP00000426986:W131S;ENSP00000420960:W131S;ENSP00000426262:W131S;ENSP00000424119:W131S	ENSP00000240327:W131S	W	-	2	0	SPOP	45051430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		77	106	77	106	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49054554	49054554	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:49054554C>A	ENST00000262013.7	-	27	3646	c.3438G>T	c.(3436-3438)gtG>gtT	p.V1146V	SPAG9_ENST00000505279.1_Silent_p.V1136V|SPAG9_ENST00000357122.4_Silent_p.V1132V|SPAG9_ENST00000510283.1_Silent_p.V989V	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1146					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAATTCTCACAAAAGAGA	0.388																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3436-3438)gtG>gtT		sperm associated antigen 9							120.0	111.0	114.0					17																	49054554		2203	4300	6503	SO:0001819	synonymous_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49054554C>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3438G>T	17.37:g.49054554C>A						SPAG9_ENST00000505279.1_Silent_p.V1136V|SPAG9_ENST00000357122.4_Silent_p.V1132V|SPAG9_ENST00000510283.1_Silent_p.V989V	p.V1146V	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		27	3646	-			1146					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.3438G>T	CCDS45740.1																																																																																				0.388	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		6	161	6	161	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2114785	2114785	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:2114785G>T	ENST00000345016.5	-	21	2616	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	AP3D1_ENST00000356926.4_Silent_p.P704P|AP3D1_ENST00000350812.6_Silent_p.P626P|AP3D1_ENST00000355272.6_Silent_p.P795P	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	795					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTCGTTGGGGTCTTTGT	0.567																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2383-2385)ccC>ccA		adaptor-related protein complex 3, delta 1 subunit							131.0	138.0	136.0					19																	2114785		1974	4156	6130	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2114785G>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2385C>A	19.37:g.2114785G>T						AP3D1_ENST00000356926.4_Silent_p.P704P|AP3D1_ENST00000345016.5_Silent_p.P795P|AP3D1_ENST00000350812.6_Silent_p.P626P	p.P795P	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	2591	-		Hepatocellular(1079;0.137)	795					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.2385C>A	CCDS42459.1																																																																																				0.567	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			5	114	5	114	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7670124	7670124	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:7670124C>A	ENST00000160298.4	+	2	262	c.161C>A	c.(160-162)cCg>cAg	p.P54Q	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.P54Q	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	54					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACGTGCCCCCGGAGCTGTGG	0.622																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(160-162)cCg>cAg		calmodulin regulated spectrin-associated protein family, member 3							108.0	117.0	114.0					19																	7670124		1995	4171	6166	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7670124C>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.161C>A	19.37:g.7670124C>A	ENSP00000160298:p.Pro54Gln					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P54Q	p.P54Q	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			2	262	+			54					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.161C>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	9.555	1.116997	0.20795	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.13196	2.61;2.61	4.45	4.45	0.53987	.	0.149447	0.41001	U	0.000963	T	0.10981	0.0268	N	0.19112	0.55	0.22639	N	0.998908	P;P	0.50943	0.94;0.892	B;B	0.43155	0.41;0.318	T	0.18085	-1.0348	10	0.29301	T	0.29	-19.0197	15.8571	0.78987	0.0:1.0:0.0:0.0	.	54;54	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	Q	54	ENSP00000416797:P54Q;ENSP00000160298:P54Q	ENSP00000160298:P54Q	P	+	2	0	KIAA1543	7576124	0.881000	0.30235	1.000000	0.80357	0.532000	0.34746	0.315000	0.19451	2.005000	0.58758	0.478000	0.44815	CCG		0.622	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		6	291	6	291	---	---	---	---
UQCRFS1	7386	broad.mit.edu	37	19	29698722	29698722	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:29698722C>A	ENST00000304863.4	-	2	980	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	186					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CTGCAGCTTCCTGCTCAATTT	0.438																																						ENST00000304863.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(556-558)caG>caT		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1							119.0	127.0	124.0					19																	29698722		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698722C>A	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.558G>T	19.37:g.29698722C>A	ENSP00000306397:p.Gln186His						p.Q186H	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	Lung(7;0.092)		2	980	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		186					A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.558G>T	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.190108	0.21954	.	.	ENSG00000169021	ENST00000304863	T	0.44881	0.91	5.42	2.95	0.34219	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (3);	0.162977	0.53938	D	0.000048	T	0.39911	0.1096	L	0.46157	1.445	0.42002	D	0.990899	P	0.43392	0.805	P	0.45998	0.5	T	0.30179	-0.9987	10	0.49607	T	0.09	.	9.5538	0.39326	0.0:0.7485:0.0:0.2515	.	186	P47985	UCRI_HUMAN	H	186	ENSP00000306397:Q186H	ENSP00000306397:Q186H	Q	-	3	2	UQCRFS1	34390562	0.913000	0.31002	0.997000	0.53966	0.106000	0.19336	0.016000	0.13377	1.288000	0.44600	0.462000	0.41574	CAG		0.438	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		7	313	7	313	---	---	---	---
U2AF1L4	199746	broad.mit.edu	37	19	36234735	36234735	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36234735G>A	ENST00000412391.2	-	7	566	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|IGFLR1_ENST00000246532.1_5'Flank|PSENEN_ENST00000591949.1_5'Flank|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000292879.5_Silent_p.S126S|IGFLR1_ENST00000592537.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	185					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCCATAGAGCTGCCTCTGG	0.572																																						ENST00000412391.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(553-555)Ctc>Ttc		U2 small nuclear RNA auxiliary factor 1-like 4							40.0	42.0	41.0					19																	36234735		2203	4300	6503	SO:0001583	missense	199746				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr19:36234735G>A	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.553C>T	19.37:g.36234735G>A	ENSP00000397645:p.Leu185Phe					U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S	p.L185F			Q8WU68	U2AF4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	566	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		185					A6NKI8|Q56UU3	Missense_Mutation	SNP	ENST00000412391.2	37	c.553C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.851877|2.851877	0.51270|0.51270	.|.	.|.	ENSG00000161265|ENSG00000161265	ENST00000392196|ENST00000378975;ENST00000412391	.|.	.|.	.|.	5.43|5.43	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.68458|0.68458	0.3003|0.3003	.|.	.|.	.|.	0.45139|0.45139	D|D	0.998152|0.998152	B|D;D	0.31968|0.71674	0.349|0.998;0.958	B|D;P	0.21917|0.71184	0.037|0.972;0.862	T|T	0.66488|0.66488	-0.5911|-0.5911	7|7	0.48119|0.48119	T|T	0.1|0.1	-12.7009|-12.7009	5.7328|5.7328	0.18049|0.18049	0.1663:0.1612:0.6726:0.0|0.1663:0.1612:0.6726:0.0	.|.	66|185;146	B4E1T9|Q8WU68;Q8WU68-3	.|U2AF4_HUMAN;.	V|F	66|146;185	.|.	ENSP00000376034:A66V|ENSP00000368258:L146F	A|L	-|-	2|1	0|0	U2AF1L4|U2AF1L4	40926575|40926575	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.006000|0.006000	0.05464|0.05464	1.461000|1.461000	0.35255|0.35255	0.873000|0.873000	0.35799|0.35799	-0.122000|-0.122000	0.15005|0.15005	GCT|CTC		0.572	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987		7	13	7	13	---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39866397	39866397	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:39866397C>A	ENST00000314471.6	+	7	1810	c.775C>A	c.(775-777)Cgg>Agg	p.R259R	SAMD4B_ENST00000596368.1_Silent_p.R259R|SAMD4B_ENST00000598913.1_Silent_p.R259R	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTTGGGGCCCGGGCTGCTTT	0.647																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(775-777)Cgg>Agg		sterile alpha motif domain containing 4B							77.0	84.0	81.0					19																	39866397		2203	4300	6503	SO:0001819	synonymous_variant	55095						protein binding	g.chr19:39866397C>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.775C>A	19.37:g.39866397C>A						SAMD4B_ENST00000596368.1_Silent_p.R259R|SAMD4B_ENST00000598913.1_Silent_p.R259R	p.R259R	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		7	1810	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		259					A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	c.775C>A	CCDS33020.1																																																																																				0.647	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		6	208	6	208	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42840497	42840497	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:42840497C>A	ENST00000251268.6	+	6	1243	c.1243C>A	c.(1243-1245)Cgg>Agg	p.R415R	MEGF8_ENST00000334370.4_Splice_Site_p.R415R	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	415					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCCACTGCCCGGTAAGTGAC	0.637																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1243-1245)Cgg>Agg		multiple EGF-like-domains 8							19.0	20.0	20.0					19																	42840497		2068	4185	6253	SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42840497C>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1244+1C>A	19.37:g.42840497C>A						MEGF8_ENST00000251268.6_Splice_Site_p.R415R	p.R415R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			6	1878	+		Prostate(69;0.00682)	415					A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37	c.1243C>A																																																																																					0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Silent	3	34	3	34	---	---	---	---
FOXA3	3171	broad.mit.edu	37	19	46375372	46375372	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:46375372C>A	ENST00000302177.2	+	2	306	c.109C>A	c.(109-111)Ctc>Atc	p.L37I		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	37					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CATGGCCCCCCTCAACTCCTA	0.642																																						ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(109-111)Ctc>Atc		forkhead box A3							58.0	67.0	64.0					19																	46375372		2202	4299	6501	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375372C>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.109C>A	19.37:g.46375372C>A	ENSP00000304004:p.Leu37Ile						p.L37I	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	306	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	37					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.109C>A	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579266	0.28180	.	.	ENSG00000170608	ENST00000302177	T	0.18338	2.22	4.3	4.3	0.51218	Fork-head N-terminal (1);	0.409722	0.16822	U	0.198110	T	0.12433	0.0302	N	0.19112	0.55	0.32177	N	0.580897	P	0.38978	0.652	B	0.40940	0.344	T	0.06570	-1.0819	10	0.36615	T	0.2	.	9.5164	0.39109	0.2103:0.7896:0.0:0.0	.	37	P55318	FOXA3_HUMAN	I	37	ENSP00000304004:L37I	ENSP00000304004:L37I	L	+	1	0	FOXA3	51067212	0.076000	0.21285	1.000000	0.80357	0.495000	0.33615	0.331000	0.19733	2.236000	0.73375	0.297000	0.19635	CTC		0.642	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			6	118	6	118	---	---	---	---
C5AR1	728	broad.mit.edu	37	19	47823991	47823991	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:47823991C>A	ENST00000355085.3	+	2	979	c.957C>A	c.(955-957)ctC>ctA	p.L319L		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	319					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCAGCCTCCTCCGGAACGTGT	0.592																																						ENST00000355085.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(955-957)ctC>ctA		complement component 5a receptor 1							76.0	74.0	74.0					19																	47823991		2203	4300	6503	SO:0001819	synonymous_variant	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823991C>A		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.957C>A	19.37:g.47823991C>A							p.L319L	NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	979	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	319						Silent	SNP	ENST00000355085.3	37	c.957C>A	CCDS33063.1																																																																																				0.592	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		5	125	5	125	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107168	49107168	+	Splice_Site	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:49107168G>A	ENST00000263266.3	-	4	948	c.759C>T	c.(757-759)agC>agT	p.S253S	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	253										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCACGTGAAGCTGGGGGTCG	0.662																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(757-759)agC>agT		family with sequence similarity 83, member E							29.0	31.0	30.0					19																	49107168		2192	4284	6476	SO:0001630	splice_region_variant	54854							g.chr19:49107168G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.759-1C>T	19.37:g.49107168G>A							p.S253S	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	948	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	253					Q9NXK1	Splice_Site	SNP	ENST00000263266.3	37	c.759C>T	CCDS42587.1																																																																																				0.662	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708	Silent	27	36	27	36	---	---	---	---
KLK4	9622	broad.mit.edu	37	19	51412631	51412631	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51412631C>T	ENST00000324041.1	-	2	100	c.101G>A	c.(100-102)gGc>gAc	p.G34D	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	34	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCAGTCCTCGCCGTTTATGAT	0.647																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(100-102)gGc>gAc		kallikrein-related peptidase 4							123.0	136.0	132.0					19																	51412631		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412631C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.101G>A	19.37:g.51412631C>T	ENSP00000326159:p.Gly34Asp						p.G34D	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	100	-		all_neural(266;0.026)	34			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.101G>A	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	19.05	3.751805	0.69533	.	.	ENSG00000167749	ENST00000324041	D	0.96685	-4.09	3.8	3.8	0.43715	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40302	N	0.001131	D	0.98413	0.9472	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99060	1.0830	10	0.87932	D	0	.	13.5212	0.61569	0.0:1.0:0.0:0.0	.	34	Q9Y5K2	KLK4_HUMAN	D	34	ENSP00000326159:G34D	ENSP00000326159:G34D	G	-	2	0	KLK4	56104443	0.557000	0.26546	0.172000	0.22920	0.030000	0.12068	2.386000	0.44380	2.124000	0.65301	0.561000	0.74099	GGC		0.647	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		158	180	158	180	---	---	---	---
KLK5	25818	broad.mit.edu	37	19	51453323	51453323	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51453323G>A	ENST00000336334.3	-	3	475	c.123C>T	c.(121-123)acC>acT	p.T41T	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Silent_p.T41T|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.T41T	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	41				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CAGAGGGCACGGTGTTAGAGG	0.622																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(121-123)acC>acT		kallikrein-related peptidase 5							44.0	42.0	43.0					19																	51453323		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453323G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.123C>T	19.37:g.51453323G>A						KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T	p.T41T	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	3	475	-		all_neural(266;0.026)	41	Missing (in Ref. 3; AAG33358).				Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.123C>T	CCDS12810.1																																																																																				0.622	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		17	20	17	20	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54755937	54755937	+	Missense_Mutation	SNP	C	C	A	rs144185169	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:54755937C>A	ENST00000316219.5	-	12	1713	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	LILRB5_ENST00000450632.1_Missense_Mutation_p.G528W|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.G437W|LILRB5_ENST00000449561.2_Missense_Mutation_p.G537W	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	536					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTCCACCCCGTCCTTGGGC	0.627																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1582-1584)Ggg>Tgg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							117.0	115.0	116.0					19																	54755937		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54755937C>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1606G>T	19.37:g.54755937C>A	ENSP00000320390:p.Gly536Trp					LILRB5_ENST00000316219.5_Missense_Mutation_p.G536W|LILRB5_ENST00000449561.2_Missense_Mutation_p.G537W|LILRB5_ENST00000345866.6_Missense_Mutation_p.G437W	p.G528W			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	12	1659	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		536					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1582G>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216603	0.22373	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00512	7.06;6.89;7.05;7.01	1.78	-0.626	0.11544	.	.	.	.	.	T	0.01029	0.0034	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.76494	0.989;0.999;0.988;0.995	P;D;P;D	0.75484	0.823;0.986;0.85;0.909	T	0.51505	-0.8697	9	0.87932	D	0	.	4.5438	0.12071	0.0:0.6324:0.0:0.3676	.	528;437;537;536	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	W	536;528;537;437	ENSP00000320390:G536W;ENSP00000414225:G528W;ENSP00000406478:G537W;ENSP00000263430:G437W	ENSP00000320390:G536W	G	-	1	0	LILRB5	59447749	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.217000	0.02979	-0.066000	0.12998	-0.368000	0.07277	GGG		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	225	5	225	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56459478	56459478	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:56459478C>A	ENST00000291971.3	+	1	281	c.210C>A	c.(208-210)ccC>ccA	p.P70P	NLRP8_ENST00000590542.1_Silent_p.P70P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	70	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCACCATGCCCATCACCTGGG	0.542																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(208-210)ccC>ccA		NLR family, pyrin domain containing 8							100.0	81.0	88.0					19																	56459478		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56459478C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.210C>A	19.37:g.56459478C>A						NLRP8_ENST00000590542.1_Silent_p.P70P	p.P70P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	281	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	70			DAPIN.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.210C>A	CCDS12937.1																																																																																				0.542	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		4	42	4	42	---	---	---	---
ZNF549	256051	broad.mit.edu	37	19	58049137	58049137	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:58049137C>A	ENST00000376233.3	+	4	946	c.765C>A	c.(763-765)tcC>tcA	p.S255S	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Silent_p.S242S	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGGGAAATCCTTGAACTCTA	0.368																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(763-765)tcC>tcA		zinc finger protein 549							74.0	76.0	75.0					19																	58049137		2203	4300	6503	SO:0001819	synonymous_variant	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049137C>A	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.765C>A	19.37:g.58049137C>A						ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.S242S|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron	p.S255S	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	946	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	255					B3KV91|O43336|Q8NAR4	Silent	SNP	ENST00000376233.3	37	c.765C>A	CCDS56106.1																																																																																				0.368	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		5	102	5	102	---	---	---	---
SIRPB1	10326	broad.mit.edu	37	20	1551529	1551529	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:1551529C>A	ENST00000381605.4	-	4	1070	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	336	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCTTGCTGCCCATCATGCTCC	0.547																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1006-1008)Ggg>Tgg		signal-regulatory protein beta 1							203.0	178.0	187.0					20																	1551529		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551529C>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.1006G>T	20.37:g.1551529C>A	ENSP00000371018:p.Gly336Trp					RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	p.G336W	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			4	1070	-			336			Ig-like C1-type 2.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.1006G>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065524	0.36470	.	.	ENSG00000101307	ENST00000381605	T	0.03524	3.9	2.51	1.4	0.22301	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.328184	0.26003	N	0.026937	T	0.19927	0.0479	H	0.94658	3.565	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02109	-1.1212	10	0.87932	D	0	.	5.7514	0.18148	0.3173:0.6827:0.0:0.0	.	336	O00241	SIRB1_HUMAN	W	336	ENSP00000371018:G336W	ENSP00000371018:G336W	G	-	1	0	SIRPB1	1499529	0.004000	0.15560	0.096000	0.21009	0.110000	0.19582	-0.090000	0.11163	1.400000	0.46741	0.462000	0.41574	GGG		0.547	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		7	177	7	177	---	---	---	---
AHCY	191	broad.mit.edu	37	20	32878543	32878543	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:32878543T>C	ENST00000217426.2	-	6	837	c.760A>G	c.(760-762)Atg>Gtg	p.M254V	AHCY_ENST00000538132.1_Missense_Mutation_p.M226V|AHCY_ENST00000468908.1_5'Flank	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	254					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTACCCTCCATGGCAGCCTGC	0.632																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(676-678)Atg>Gtg		adenosylhomocysteinase							124.0	119.0	121.0					20																	32878543		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32878543T>C	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.760A>G	20.37:g.32878543T>C	ENSP00000217426:p.Met254Val					AHCY_ENST00000217426.2_Missense_Mutation_p.M254V	p.M226V	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			6	1062	-			254					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.676A>G	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.202511	0.38905	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.78707	-1.2;-1.2	4.53	4.53	0.55603	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.91249	3.19	0.80722	D	1	P	0.37141	0.584	P	0.47645	0.553	D	0.88496	0.3079	10	0.52906	T	0.07	.	14.3056	0.66382	0.0:0.0:0.0:1.0	.	254	P23526	SAHH_HUMAN	V	254;226	ENSP00000217426:M254V;ENSP00000442820:M226V	ENSP00000217426:M254V	M	-	1	0	AHCY	32342204	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.710000	0.84655	2.042000	0.60477	0.454000	0.30748	ATG		0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		86	102	86	102	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33448108	33448108	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:33448108C>A	ENST00000336431.5	-	5	736	c.692G>T	c.(691-693)gGg>gTg	p.G231V		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	231					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGGAACCCCCACCAAGAG	0.642																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(691-693)gGg>gTg		gamma-glutamyltransferase 7							55.0	52.0	53.0					20																	33448108		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33448108C>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.692G>T	20.37:g.33448108C>A	ENSP00000338964:p.Gly231Val						p.G231V	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			5	736	-			231					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.692G>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390012	0.82902	.	.	ENSG00000131067	ENST00000336431	T	0.10005	2.92	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.65446	-0.6166	10	0.87932	D	0	-21.0243	18.5639	0.91111	0.0:1.0:0.0:0.0	.	231;231	A4FU32;Q9UJ14	.;GGT7_HUMAN	V	231	ENSP00000338964:G231V	ENSP00000338964:G231V	G	-	2	0	GGT7	32911769	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.205000	0.77881	2.448000	0.82819	0.462000	0.41574	GGG		0.642	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		5	81	5	81	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50776704	50776704	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:50776704G>T	ENST00000216923.4	-	5	1070	c.721C>A	c.(721-723)Cgc>Agc	p.R241S	ZFP64_ENST00000371518.2_Missense_Mutation_p.R241S|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.R239S|ZFP64_ENST00000346617.4_Missense_Mutation_p.R187S|ZFP64_ENST00000361387.2_Missense_Mutation_p.R241S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAGTTGCGGCTGGCGTAG	0.577																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(721-723)Cgc>Agc		ZFP64 zinc finger protein							121.0	125.0	123.0					20																	50776704		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50776704G>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.721C>A	20.37:g.50776704G>T	ENSP00000216923:p.Arg241Ser					ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.R239S|ZFP64_ENST00000346617.4_Missense_Mutation_p.R187S|ZFP64_ENST00000361387.2_Missense_Mutation_p.R241S|ZFP64_ENST00000371518.2_Missense_Mutation_p.R241S	p.R241S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			5	1070	-			241					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.721C>A	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592488	0.86953	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.26957	1.7;1.7;2.55;2.55;2.55	6.17	5.15	0.70609	Zinc finger, C2H2-like (2);Zinc finger, C2H2 (4);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.53938	D	0.000050	T	0.36110	0.0955	L	0.33339	1.005	0.54753	D	0.999981	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.78314	0.978;0.991;0.977;0.986	T	0.01720	-1.1288	10	0.02654	T	1	-31.0632	18.3378	0.90294	0.0:0.0:0.8733:0.1267	.	187;239;241;241	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	S	241;241;241;187;239;83;394	ENSP00000360573:R241S;ENSP00000355179:R241S;ENSP00000216923:R241S;ENSP00000344615:R187S;ENSP00000360570:R239S	ENSP00000216923:R241S	R	-	1	0	ZFP64	50210111	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.538000	0.67193	2.941000	0.99782	0.655000	0.94253	CGC		0.577	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		6	154	6	154	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30331780	30331780	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:30331780C>A	ENST00000361371.5	-	13	2672	c.2593G>T	c.(2593-2595)Gat>Tat	p.D865Y	LTN1_ENST00000389194.2_Splice_Site_p.D911Y			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	865					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGGCTATTACCTGGCAAATGT	0.388																																						ENST00000389194.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(2731-2733)Gat>Tat		listerin E3 ubiquitin protein ligase 1							102.0	106.0	105.0					21																	30331780		2203	4300	6503	SO:0001630	splice_region_variant	26046						ligase activity|zinc ion binding	g.chr21:30331780C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2593+1G>T	21.37:g.30331780C>A						LTN1_ENST00000361371.5_Splice_Site_p.D865Y	p.D911Y	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			13	2736	-			865					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37	c.2731G>T		.	.	.	.	.	.	.	.	.	.	C	28.8	4.952857	0.92660	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.24538	1.85;1.87	5.55	5.55	0.83447	.	0.109140	0.64402	D	0.000010	T	0.38241	0.1033	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.57244	0.816	T	0.07597	-1.0764	10	0.72032	D	0.01	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	865	O94822	LTN1_HUMAN	Y	911;865	ENSP00000373846:D911Y;ENSP00000354977:D865Y	ENSP00000354977:D865Y	D	-	1	0	LTN1	29253651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.985000	0.76193	2.885000	0.99019	0.655000	0.94253	GAT		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	Missense_Mutation	6	229	6	229	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33297008	33297008	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:33297008C>A	ENST00000270112.2	+	2	850	c.490C>A	c.(490-492)Cgc>Agc	p.R164S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCCGAAGCCCGCAGATACAT	0.597																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(490-492)Cgc>Agc		hormonally up-regulated Neu-associated kinase							69.0	73.0	71.0					21																	33297008		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33297008C>A	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.490C>A	21.37:g.33297008C>A	ENSP00000270112:p.Arg164Ser						p.R164S	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			2	850	+			164			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.490C>A	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825979	0.71143	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.26810	1.71;1.71	4.73	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138367	0.47093	D	0.000256	T	0.50377	0.1612	M	0.77820	2.39	0.46954	D	0.999265	D	0.76494	0.999	D	0.73708	0.981	T	0.54649	-0.8262	10	0.87932	D	0	-26.4284	12.9488	0.58388	0.1618:0.8382:0.0:0.0	.	164	P57058	HUNK_HUMAN	S	164;49	ENSP00000270112:R164S;ENSP00000411860:R49S	ENSP00000270112:R164S	R	+	1	0	HUNK	32218879	0.996000	0.38824	1.000000	0.80357	0.912000	0.54170	3.303000	0.51858	2.444000	0.82710	0.557000	0.71058	CGC		0.597	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		4	135	4	135	---	---	---	---
MX1	4599	broad.mit.edu	37	21	42817984	42817984	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:42817984G>T	ENST00000398600.2	+	15	2214	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	MX1_ENST00000288383.6_Missense_Mutation_p.G374W|MX1_ENST00000398598.3_Missense_Mutation_p.G397W|MX1_ENST00000455164.2_Missense_Mutation_p.G397W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	397	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGAAACTGTAGGGGAGGAAGA	0.403																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1189-1191)Ggg>Tgg		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							105.0	97.0	100.0					21																	42817984		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42817984G>T		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1189G>T	21.37:g.42817984G>T	ENSP00000381601:p.Gly397Trp					MX1_ENST00000398598.3_Missense_Mutation_p.G397W|MX1_ENST00000455164.2_Missense_Mutation_p.G397W|MX1_ENST00000288383.6_Missense_Mutation_p.G374W	p.G397W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			15	2214	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	397					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1189G>T	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	9.284	1.048921	0.19827	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.72	0.633	0.17712	Dynamin central domain (1);	0.578708	0.19743	N	0.107080	T	0.57489	0.2057	L	0.51422	1.61	0.09310	N	1	B	0.18013	0.025	B	0.27076	0.076	T	0.47420	-0.9119	10	0.38643	T	0.18	-7.4041	1.7259	0.02921	0.242:0.1417:0.4709:0.1454	.	397	P20591	MX1_HUMAN	W	397;397;397;374	ENSP00000381601:G397W;ENSP00000381599:G397W;ENSP00000410523:G397W;ENSP00000288383:G374W	ENSP00000288383:G374W	G	+	1	0	MX1	41739854	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.289000	0.18957	-0.012000	0.14223	0.655000	0.94253	GGG		0.403	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			5	95	5	95	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100912074	100912074	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chrX:100912074G>T	ENST00000328766.5	-	5	954	c.501C>A	c.(499-501)ccC>ccA	p.P167P	ARMCX2_ENST00000356824.4_Silent_p.P167P|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.P167P	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	167	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCGCTTCTCTGGGAGCTTCTG	0.647																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(499-501)ccC>ccA		armadillo repeat containing, X-linked 2							27.0	29.0	29.0					X																	100912074		2199	4280	6479	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100912074G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.501C>A	X.37:g.100912074G>T						ARMCX2_ENST00000356824.4_Silent_p.P167P|ARMCX2_ENST00000330154.2_Silent_p.P167P	p.P167P	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	954	-			167			Ala-rich.		O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.501C>A	CCDS14490.1																																																																																				0.647	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		4	68	4	68	---	---	---	---
RAB40A	142684	broad.mit.edu	37	X	102755042	102755042	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chrX:102755042G>T	ENST00000372633.1	-	1	2761	c.643C>A	c.(643-645)Ccc>Acc	p.P215T	RAB40A_ENST00000304236.1_Missense_Mutation_p.P215T|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	215	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGGTACTGGGGAGCGGGAGC	0.597																																						ENST00000372633.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(643-645)Ccc>Acc		RAB40A, member RAS oncogene family							127.0	109.0	115.0					X																	102755042		2203	4300	6503	SO:0001583	missense	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102755042G>T	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.643C>A	X.37:g.102755042G>T	ENSP00000361716:p.Pro215Thr					LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.P215T	p.P215T			Q8WXH6	RB40A_HUMAN			1	2761	-			215			SOCS box.		O00407|Q17RQ5|Q6DK06|Q8TF06	Missense_Mutation	SNP	ENST00000372633.1	37	c.643C>A	CCDS35357.1	.	.	.	.	.	.	.	.	.	.	.	13.46	2.242363	0.39598	.	.	ENSG00000172476	ENST00000372633;ENST00000304236	D;D	0.88586	-2.4;-2.4	0.225	0.225	0.15325	SOCS protein, C-terminal (4);	0.000000	0.45126	U	0.000383	D	0.93099	0.7803	M	0.86420	2.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90641	0.4575	10	0.87932	D	0	.	6.1796	0.20463	4.0E-4:0.0:0.9996:0.0	.	215	Q8WXH6	RB40A_HUMAN	T	215	ENSP00000361716:P215T;ENSP00000305648:P215T	ENSP00000305648:P215T	P	-	1	0	RAB40A	102641698	1.000000	0.71417	0.036000	0.18154	0.037000	0.13140	6.590000	0.74085	0.280000	0.22209	0.284000	0.19432	CCC		0.597	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			5	92	5	92	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170667531	170667531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:170667531delC	ENST00000409333.1	+	10	1221	c.974delC	c.(973-975)tccfs	p.S325fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	325					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAACAAGAATCCCTAAACAAA	0.343																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(973-975)tccfs		Sjogren syndrome antigen B (autoantigen La)							51.0	52.0	51.0					2																	170667531		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170667531delC		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.974delC	2.37:g.170667531delC	ENSP00000386636:p.Ser325fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron	p.S325fs			P05455	LA_HUMAN			10	1221	+			325					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.974delC	CCDS2237.1																																																																																				0.343	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		23	10	23	10	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11076736	11076738	+	Splice_Site	DEL	TCT	TCT	-			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:11076736_11076738delTCT	ENST00000409790.1	+	10	1189_1191	c.959_961delTCT	c.(958-963)gtcttc>gtc	p.F321del	CLEC16A_ENST00000409552.3_Splice_Site_p.F319del	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTCCGCCAGGTCTTCTTAATTAT	0.448																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(958-963)gtcttc>gtc		C-type lectin domain family 16, member A																																				SO:0001630	splice_region_variant	23274							g.chr16:11076736_11076738delTCT	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.958-1TCT>-	16.37:g.11076739_11076741delTCT						CLEC16A_ENST00000409552.3_Splice_Site_p.F319del	p.F321del	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			10	1189_1191	+			321						Splice_Site	DEL	ENST00000409790.1	37	c.959_961delTCT	CCDS45409.1																																																																																				0.448	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	In_Frame_Del	18	36	18	36	---	---	---	---
