#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_filter	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
DFFB	1677	broad.mit.edu	37	1	3800177	3800177	+	Nonsense_Mutation	SNP	G	G	T	rs59649948		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:3800177G>T	ENST00000378209.3	+	7	1212	c.889G>T	c.(889-891)Gag>Tag	p.E297*	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	297					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E297*(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTTTACCTCAGAGAACCTAAA	0.443																																						uc001alc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(889-891)GAG>TAG		DNA fragmentation factor, 40 kD, beta							187.0	182.0	183.0					1																	3800177		2203	4300	6503	SO:0001587	stop_gained	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3800177G>T		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.889G>T	1.37:g.3800177G>T	ENSP00000367454:p.Glu297*					DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Nonsense_Mutation_p.E321*|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Nonsense_Mutation_p.E248*|DFFB_uc001ald.2_Nonsense_Mutation_p.E233*	p.E297*	NM_004402	NP_004393	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1212	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	297					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	ENST00000378209.3	37	c.889G>T	CCDS52.1	.	.	.	.	.	.	.	.	.	.	G	37	6.425634	0.97555	.	.	ENSG00000169598	ENST00000378209;ENST00000339350;ENST00000378206	.	.	.	5.3	3.05	0.35203	.	0.733936	0.13481	N	0.384706	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-23.0136	9.9488	0.41626	0.1255:0.136:0.7384:0.0	rs59649948	.	.	.	X	297;233;233	.	ENSP00000343218:E233X	E	+	1	0	DFFB	3790037	0.119000	0.22226	0.294000	0.24946	0.590000	0.36582	1.840000	0.39230	1.208000	0.43306	0.655000	0.94253	GAG		PASS	0.443	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		5	93	5	93	---	---	---	---
ANGPTL7	10218	broad.mit.edu	37	1	11249665	11249665	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:11249665C>A	ENST00000376819.3	+	1	268	c.29C>A	c.(28-30)aCc>aAc	p.T10N	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	10					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)		p.T10N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		TCAGCTGTGACCTGGCTCTGC	0.557																																						uc001ase.2																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)ACC>AAC		angiopoietin-like 7 precursor							73.0	78.0	76.0					1																	11249665		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11249665C>A	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.29C>A	1.37:g.11249665C>A	ENSP00000366015:p.Thr10Asn					MTOR_uc001asd.2_Intron	p.T10N	NM_021146	NP_066969	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	1	268	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	10					B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.29C>A	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251685	0.39797	.	.	ENSG00000171819	ENST00000376819	T	0.55052	0.54	5.5	3.62	0.41486	.	0.815142	0.11949	N	0.513892	T	0.33235	0.0856	N	0.08118	0	0.28901	N	0.893253	B	0.19583	0.037	B	0.14023	0.01	T	0.29274	-1.0017	10	0.66056	D	0.02	.	10.6564	0.45678	0.0:0.8496:0.0:0.1504	.	10	O43827	ANGL7_HUMAN	N	10	ENSP00000366015:T10N	ENSP00000366015:T10N	T	+	2	0	ANGPTL7	11172252	0.044000	0.20184	0.777000	0.31699	0.994000	0.84299	1.008000	0.29872	1.314000	0.45095	0.655000	0.94253	ACC		PASS	0.557	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		49	44	49	44	---	---	---	---
MTHFR	4524	broad.mit.edu	37	1	11861293	11861293	+	Missense_Mutation	SNP	G	G	A	rs45550133		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:11861293G>A	ENST00000376592.1	-	2	528	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	MTHFR_ENST00000376585.1_Missense_Mutation_p.R175C|MTHFR_ENST00000376590.3_Missense_Mutation_p.R134C|MTHFR_ENST00000376583.3_Missense_Mutation_p.R175C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	134					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.R134C(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TCCTCCAGGCGCTGACGGCAG	0.617																																						uc001atc.1																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM082956	MTHFR	M	rs45550133	c.(400-402)CGC>TGC		5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						99.0	87.0	91.0					1																	11861293		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11861293G>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.400C>T	1.37:g.11861293G>A	ENSP00000365777:p.Arg134Cys					MTHFR_uc001atb.1_Missense_Mutation_p.R157C	p.R134C	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	584	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	134					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.400C>T	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327411	0.81690	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99	5.66	0.709	0.18150	.	0.320508	0.40640	N	0.001053	D	0.85691	0.5755	N	0.12182	0.205	0.43657	D	0.996079	P;P	0.42620	0.785;0.785	B;P	0.48030	0.155;0.564	T	0.81885	-0.0727	10	0.72032	D	0.01	.	8.8985	0.35479	0.1001:0.0:0.3259:0.574	rs45550133	134;175	P42898;Q5SNW6	MTHR_HUMAN;.	C	134;175;134;175;134	ENSP00000365777:R134C;ENSP00000365767:R175C;ENSP00000365775:R134C;ENSP00000365770:R175C;ENSP00000405082:R134C	ENSP00000365767:R175C	R	-	1	0	MTHFR	11783880	1.000000	0.71417	0.986000	0.45419	0.899000	0.52679	3.052000	0.49893	-0.120000	0.11809	-0.425000	0.05940	CGC		PASS	0.617	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		31	8	31	8	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33790576	33790576	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:33790576C>G	ENST00000257118.5	-	14	2520	c.2467G>C	c.(2467-2469)Ggg>Cgg	p.G823R	PHC2_ENST00000373422.3_Missense_Mutation_p.G429R|PHC2_ENST00000431992.1_Missense_Mutation_p.G794R|PHC2_ENST00000419414.2_Missense_Mutation_p.G824R|PHC2_ENST00000373418.3_Missense_Mutation_p.G288R|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000587696.1_RNA|RP11-415J8.3_ENST00000588828.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	823	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G823R(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGGCTTGCCCGTCGATTTCC	0.592																																						uc001bxg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2467-2469)GGG>CGG		polyhomeotic-like 2 isoform a							67.0	59.0	62.0					1																	33790576		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33790576C>G	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2467G>C	1.37:g.33790576C>G	ENSP00000257118:p.Gly823Arg					PHC2_uc001bxh.1_Missense_Mutation_p.G795R|PHC2_uc009vuh.1_Missense_Mutation_p.G824R|PHC2_uc001bxe.1_Missense_Mutation_p.G288R|PHC2_uc001bxf.1_3'UTR	p.G823R	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN			14	2521	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	823			SAM.		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.2467G>C	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379850	0.82682	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.73	5.73	0.89815	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97849	1.0273	10	0.87932	D	0	-14.8134	17.3974	0.87450	0.0:1.0:0.0:0.0	.	824;795;823	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	R	794;823;429;288;399;824	ENSP00000389436:G794R;ENSP00000257118:G823R;ENSP00000362521:G429R;ENSP00000362517:G288R;ENSP00000391440:G824R	ENSP00000257118:G823R	G	-	1	0	PHC2	33563163	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	7.797000	0.85911	2.706000	0.92434	0.655000	0.94253	GGG		PASS	0.592	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		6	5	6	5	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39797468	39797468	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:39797468G>T	ENST00000372915.3	+	36	5310	c.5223G>T	c.(5221-5223)ggG>ggT	p.G1741G	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.G1773G|MACF1_ENST00000564288.1_Silent_p.G1736G|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.G176G|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1741					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.G176G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			TGGCAGGGGGGATGGTGAGCT	0.493																																						uc010oiu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(526-528)GGG>GGT		microfilament and actin filament cross-linker							66.0	61.0	63.0					1																	39797468		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797468G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5223G>T	1.37:g.39797468G>T						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.G176G	NM_033044	NP_149033	Q9UPN3	MACF1_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	659	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1741					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.528G>T																																																																																					PASS	0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		22	11	22	11	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44071241	44071241	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:44071241G>T	ENST00000359947.4	+	19	3771	c.3431G>T	c.(3430-3432)gGg>gTg	p.G1144V	PTPRF_ENST00000372414.3_Missense_Mutation_p.G1144V|PTPRF_ENST00000422171.2_Missense_Mutation_p.G492V|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1135V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.G1135V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1144					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1134V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTGTGGGCGGGAGCATGCTG	0.627																																						uc001cjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3430-3432)GGG>GTG		protein tyrosine phosphatase, receptor type, F							149.0	115.0	127.0					1																	44071241		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071241G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3431G>T	1.37:g.44071241G>T	ENSP00000353030:p.Gly1144Val					PTPRF_uc001cjs.2_Missense_Mutation_p.G1135V|PTPRF_uc001cju.2_Missense_Mutation_p.G522V|PTPRF_uc009vwt.2_Missense_Mutation_p.G704V|PTPRF_uc001cjv.2_Missense_Mutation_p.G604V|PTPRF_uc001cjw.2_Missense_Mutation_p.G370V	p.G1144V	NM_002840	NP_002831	P10586	PTPRF_HUMAN			19	3771	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1144			Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3431G>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.343445|3.343445	0.61073|0.61073	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	T;T;T;T;T;T|.	0.56611|.	0.45;0.47;0.45;0.47;2.38;4.09|.	5.18|5.18	4.26|4.26	0.50523|0.50523	.|.	0.231043|0.231043	0.22329|0.22329	N|N	0.061497|0.061497	T|.	0.35913|.	0.0948|.	L|L	0.27053|0.27053	0.805|0.805	0.24488|0.24488	N|N	0.994316|0.994316	B;P;P;D;P|.	0.54047|.	0.259;0.921;0.791;0.964;0.808|.	B;P;B;P;B|.	0.47044|.	0.055;0.535;0.269;0.478;0.299|.	T|.	0.27262|.	-1.0079|.	10|.	0.48119|0.59425	T|D	0.1|0.04	.|.	10.6375|10.6375	0.45573|0.45573	0.0754:0.1418:0.7828:0.0|0.0754:0.1418:0.7828:0.0	.|.	789;492;710;1135;1144|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	V|X	1144;1135;1144;1135;492;205|790	ENSP00000353030:G1144V;ENSP00000398822:G1135V;ENSP00000361491:G1144V;ENSP00000361490:G1135V;ENSP00000387885:G492V;ENSP00000361484:G205V|.	ENSP00000353030:G1144V|ENSP00000408952:G790X	G|G	+|+	2|1	0|0	PTPRF|PTPRF	43843828|43843828	0.924000|0.924000	0.31332|0.31332	0.834000|0.834000	0.33040|0.33040	0.913000|0.913000	0.54294|0.54294	3.448000|3.448000	0.52943|0.52943	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	GGG|GGA		PASS	0.627	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			14	9	14	9	---	---	---	---
TAL1	6886	broad.mit.edu	37	1	47685806	47685806	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:47685806G>T	ENST00000294339.3	-	4	1158	c.582C>A	c.(580-582)agC>agA	p.S194R	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.S196R|TAL1_ENST00000371884.2_Missense_Mutation_p.S194R	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	194	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S194R(1)|p.S194S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ATCGCTCCCGGCTGTTGGTGA	0.562			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(1)	1						c.(580-582)AGC>AGA		T-cell acute lymphocytic leukemia 1							41.0	39.0	40.0					1																	47685806		2203	4300	6503	SO:0001583	missense	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685806G>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.582C>A	1.37:g.47685806G>T	ENSP00000294339:p.Ser194Arg					TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.S194R	p.S194R	NM_003189	NP_003180	P17542	TAL1_HUMAN			4	1159	-			194			Basic motif.		D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	c.582C>A	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943595	0.73672	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97870	-4.58;-4.58;-4.58	5.53	3.4	0.38934	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	L	0.51422	1.61	0.52099	D	0.999949	D	0.89917	1.0	D	0.85130	0.997	D	0.96943	0.9689	10	0.87932	D	0	.	11.2374	0.48949	0.0788:0.1327:0.7885:0.0	.	194	P17542	TAL1_HUMAN	R	194;196;194	ENSP00000360951:S194R;ENSP00000360950:S196R;ENSP00000294339:S194R	ENSP00000294339:S194R	S	-	3	2	TAL1	47458393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.128000	0.42045	2.607000	0.88179	0.579000	0.79373	AGC		PASS	0.562	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		21	7	21	7	---	---	---	---
EPS8L3	79574	broad.mit.edu	37	1	110302413	110302413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:110302413C>A	ENST00000361965.4	-	4	248	c.142G>T	c.(142-144)Gag>Tag	p.E48*	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Nonsense_Mutation_p.E48*|EPS8L3_ENST00000369805.3_Nonsense_Mutation_p.E48*|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	48						cytoplasm (GO:0005737)		p.E48*(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AAGGCATCCTCGGGCCCCTGG	0.612																																						uc001dyr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(142-144)GAG>TAG		epidermal growth factor receptor pathway							81.0	72.0	75.0					1																	110302413		2203	4300	6503	SO:0001587	stop_gained	79574					cytoplasm	protein binding	g.chr1:110302413C>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.142G>T	1.37:g.110302413C>A	ENSP00000355255:p.Glu48*					EPS8L3_uc001dys.1_Nonsense_Mutation_p.E48*|EPS8L3_uc001dyq.1_Nonsense_Mutation_p.E48*|EPS8L3_uc009wfm.1_Nonsense_Mutation_p.E14*|EPS8L3_uc009wfn.1_Nonsense_Mutation_p.E14*|EPS8L3_uc009wfo.1_Intron	p.E48*	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	4	287	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	48					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Nonsense_Mutation	SNP	ENST00000361965.4	37	c.142G>T	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093399	0.76756	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	.	.	.	5.54	3.24	0.37175	.	0.839284	0.11371	N	0.570858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-24.7115	7.7353	0.28810	0.0:0.1684:0.0:0.8316	.	.	.	.	X	48	.	ENSP00000354551:E48X	E	-	1	0	EPS8L3	110103936	0.999000	0.42202	1.000000	0.80357	0.383000	0.30230	1.528000	0.35985	0.924000	0.37069	-0.294000	0.09567	GAG		PASS	0.612	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		4	32	4	32	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111963989	111963989	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:111963989T>A	ENST00000369732.3	-	8	867	c.812A>T	c.(811-813)aAa>aTa	p.K271I	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	271					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.K271I(1)|p.K335I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTAGAGGCTTTGAGGAGGCG	0.517																																						uc001eba.2																			2	Substitution - Missense(2)	p.K271fs*4(1)	lung(2)	ovary(4)|large_intestine(1)	5						c.(811-813)AAA>ATA		oviductal glycoprotein 1 precursor							131.0	131.0	131.0					1																	111963989		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111963989T>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.812A>T	1.37:g.111963989T>A	ENSP00000358747:p.Lys271Ile					OVGP1_uc001eaz.2_Missense_Mutation_p.K233I|OVGP1_uc010owb.1_Intron	p.K271I	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	8	868	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	271					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.812A>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	8.411	0.844215	0.16963	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.46063	0.88	5.08	-3.27	0.05048	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	10.253500	0.00738	N	0.000990	T	0.34250	0.0891	L	0.55743	1.74	0.09310	N	1	B;D	0.54397	0.009;0.966	B;P	0.58331	0.045;0.837	T	0.26360	-1.0105	10	0.72032	D	0.01	-2.9646	5.7088	0.17923	0.0:0.3401:0.2625:0.3974	.	271;335	Q12889;Q59HH5	OVGP1_HUMAN;.	I	271;335;79	ENSP00000358747:K271I	ENSP00000358743:K335I	K	-	2	0	OVGP1	111765512	0.000000	0.05858	0.005000	0.12908	0.113000	0.19764	-0.395000	0.07287	-0.462000	0.06984	-0.619000	0.04042	AAA		PASS	0.517	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		36	19	36	19	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115524061	115524061	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:115524061T>A	ENST00000369522.3	+	29	2727	c.2487T>A	c.(2485-2487)caT>caA	p.H829Q	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.H829Q	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	829					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.H829Q(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTTGATCATGGCATATCCA	0.333																																						uc001efr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2485-2487)CAT>CAA		synaptonemal complex protein 1							88.0	89.0	89.0					1																	115524061		2203	4297	6500	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115524061T>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2487T>A	1.37:g.115524061T>A	ENSP00000358535:p.His829Gln					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.H829Q|SYCP1_uc009wgw.2_Missense_Mutation_p.H804Q	p.H829Q	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	29	2696	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	829					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2487T>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	T	5.608	0.296872	0.10622	.	.	ENSG00000198765	ENST00000369522;ENST00000369518	T;T	0.29142	1.58;1.58	5.52	3.16	0.36331	.	1.468250	0.03666	N	0.243265	T	0.06508	0.0167	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.25047	-1.0143	10	0.22706	T	0.39	0.8959	5.8189	0.18516	0.0:0.0869:0.168:0.7451	.	829;829	B7ZLS9;Q15431	.;SYCP1_HUMAN	Q	829	ENSP00000358535:H829Q;ENSP00000358531:H829Q	ENSP00000358531:H829Q	H	+	3	2	SYCP1	115325584	0.532000	0.26346	0.034000	0.17996	0.443000	0.32047	0.888000	0.28268	0.379000	0.24794	0.482000	0.46254	CAT		PASS	0.333	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		27	7	27	7	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534248	145534248	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:145534248C>A	ENST00000369304.3	+	14	1928	c.1753C>A	c.(1753-1755)Cat>Aat	p.H585N	ITGA10_ENST00000538811.1_Missense_Mutation_p.H454N|ITGA10_ENST00000539363.1_Missense_Mutation_p.H442N	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	585					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.H585N(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTACCTGTACCATGGAACCCA	0.567																																						uc001eoa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(1753-1755)CAT>AAT		integrin, alpha 10 precursor							107.0	106.0	106.0					1																	145534248		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534248C>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1753C>A	1.37:g.145534248C>A	ENSP00000358310:p.His585Asn					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.H454N|ITGA10_uc009wiw.2_Missense_Mutation_p.H442N|ITGA10_uc010oyw.1_Missense_Mutation_p.H530N	p.H585N	NM_003637	NP_003628	O75578	ITA10_HUMAN			14	1829	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		585			Extracellular (Potential).|FG-GAP 6.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1753C>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712333	0.89112	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.06687	3.27;3.27;3.27	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	N	0.00788	-1.185	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.997	D;D;D;D	0.75484	0.974;0.947;0.986;0.917	T	0.63567	-0.6608	10	0.37606	T	0.19	.	16.2001	0.82067	0.0:1.0:0.0:0.0	.	551;454;442;585	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	N	585;551;442;454	ENSP00000358310:H585N;ENSP00000439894:H442N;ENSP00000440011:H454N	ENSP00000358310:H585N	H	+	1	0	ITGA10	144245605	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	4.682000	0.61671	2.489000	0.83994	0.655000	0.94253	CAT		PASS	0.567	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		5	95	5	95	---	---	---	---
CD160	11126	broad.mit.edu	37	1	145706688	145706688	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:145706688C>G	ENST00000369288.2	-	3	288	c.71G>C	c.(70-72)gGt>gCt	p.G24A	CD160_ENST00000235933.6_Missense_Mutation_p.G24A|CD160_ENST00000401557.3_Missense_Mutation_p.G24A|CD160_ENST00000369290.1_Missense_Mutation_p.G24A	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	24					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.G24A(1)		endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATCCTCACCACCAGACTGGAT	0.587																																					Colon(182;1122 1999 4065 44014 53024)	uc001eol.1																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)GGT>GCT		CD160 antigen precursor							80.0	73.0	75.0					1																	145706688		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145706688C>G	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.71G>C	1.37:g.145706688C>G	ENSP00000358294:p.Gly24Ala					NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Missense_Mutation_p.G24A|CD160_uc010oyz.1_RNA	p.G24A	NM_007053	NP_008984	O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		3	289	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		24						Missense_Mutation	SNP	ENST00000369288.2	37	c.71G>C	CCDS923.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013402	0.35511	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000369290;ENST00000401557	T;T;T	0.62788	0.0;0.0;0.0	3.94	1.8	0.24995	.	0.198127	0.25258	N	0.031966	T	0.25717	0.0626	L	0.29908	0.895	0.09310	N	1	P;P	0.42203	0.748;0.773	B;B	0.32980	0.156;0.143	T	0.08452	-1.0721	10	0.87932	D	0	-8.9169	9.5053	0.39042	0.0:0.5754:0.4246:0.0	.	24;24	Q5T2V6;O95971	.;BY55_HUMAN	A	24	ENSP00000235933:G24A;ENSP00000358294:G24A;ENSP00000385199:G24A	ENSP00000235933:G24A	G	-	2	0	CD160	144418045	0.000000	0.05858	0.382000	0.26119	0.355000	0.29361	-0.314000	0.08092	0.967000	0.38186	0.655000	0.94253	GGT		PASS	0.587	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		16	49	16	49	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152059147	152059147	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:152059147T>C	ENST00000368806.1	-	3	1075	c.1011A>G	c.(1009-1011)ggA>ggG	p.G337G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	337							calcium ion binding (GO:0005509)	p.G337G(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCATCCTTTCCTGGTTCTT	0.448																																						uc001ezo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1009-1011)GGA>GGG		trichohyalin-like 1							236.0	222.0	227.0					1																	152059147		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152059147T>C		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1011A>G	1.37:g.152059147T>C							p.G337G	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1076	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		337					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.1011A>G	CCDS30857.1																																																																																				PASS	0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		49	163	49	163	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157548310	157548310	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:157548310C>T	ENST00000271532.1	-	10	1518	c.1383G>A	c.(1381-1383)ttG>ttA	p.L461L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	461					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L461L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGAGTATACCAAATCTCCCT	0.413																																						uc001fqw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1381-1383)TTG>TTA		Fc receptor-like 4 precursor							104.0	103.0	103.0					1																	157548310		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157548310C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1383G>A	1.37:g.157548310C>T						FCRL4_uc010phy.1_RNA	p.L461L	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			10	1519	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	461			Cytoplasmic (Potential).|ITIM motif 2.		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.1383G>A	CCDS1166.1																																																																																				PASS	0.413	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		7	46	7	46	---	---	---	---
OR10J1	26476	broad.mit.edu	37	1	159409849	159409849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:159409849C>T	ENST00000423932.3	+	1	338	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	101					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q257*(1)|p.Q101*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGGTATGAGCCAGCCCATATC	0.478																																						uc010piv.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(301-303)CAG>TAG		olfactory receptor, family 10, subfamily J,							102.0	86.0	91.0					1																	159409849		2203	4300	6503	SO:0001587	stop_gained	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409849C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.301C>T	1.37:g.159409849C>T	ENSP00000399078:p.Gln101*					uc001fts.3_Intron	p.Q101*	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	301	+	all_hematologic(112;0.0429)		101			Extracellular (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Nonsense_Mutation	SNP	ENST00000423932.3	37	c.301C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064085	0.20067	.	.	ENSG00000196184	ENST00000423932	.	.	.	4.48	-0.0397	0.13875	.	0.822690	0.10178	N	0.706271	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9219	0.09247	0.2785:0.4995:0.1364:0.0857	.	.	.	.	X	101	.	ENSP00000399078:Q101X	Q	+	1	0	OR10J1	157676473	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.204000	0.17335	0.186000	0.20125	0.655000	0.94253	CAG		PASS	0.478	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		13	47	13	47	---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160012156	160012156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:160012156C>T	ENST00000368089.3	-	2	393	c.167G>A	c.(166-168)tGg>tAg	p.W56*	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	56					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.W56*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GAAGGTTGTCCACAGGTCCTT	0.542																																					GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(166-168)TGG>TAG		potassium inwardly-rectifying channel, subfamily							202.0	168.0	179.0					1																	160012156		2203	4300	6503	SO:0001587	stop_gained	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012156C>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.167G>A	1.37:g.160012156C>T	ENSP00000357068:p.Trp56*						p.W56*	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	317	-	all_hematologic(112;0.093)		56			Cytoplasmic (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Nonsense_Mutation	SNP	ENST00000368089.3	37	c.167G>A	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	37	6.566290	0.97667	.	.	ENSG00000177807	ENST00000368089	.	.	.	5.17	4.24	0.50183	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.7241	0.57159	0.1655:0.8345:0.0:0.0	.	.	.	.	X	56	.	ENSP00000357068:W56X	W	-	2	0	KCNJ10	158278780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	1.366000	0.46076	0.591000	0.81541	TGG		PASS	0.542	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		26	107	26	107	---	---	---	---
B4GALT3	8703	broad.mit.edu	37	1	161143746	161143746	+	Missense_Mutation	SNP	C	C	T	rs373721033		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:161143746C>T	ENST00000319769.5	-	5	805	c.583G>A	c.(583-585)Gat>Aat	p.D195N	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|B4GALT3_ENST00000367998.1_Missense_Mutation_p.D195N	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	195					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)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.D195N(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGGTCCACATCGTGCAAGAAC	0.522																																						uc001fyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)GAT>AAT		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)	C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	122.0	104.0	110.0		583,583,583	5.2	0.9	1		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	B4GALT3	NM_001199873.1,NM_001199874.1,NM_003779.3	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	195/394,195/394,195/394	161143746	1,13005	2203	4300	6503	SO:0001583	missense	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161143746C>T	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.583G>A	1.37:g.161143746C>T	ENSP00000320965:p.Asp195Asn					PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_5'UTR|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.D195N|B4GALT3_uc001fys.1_Missense_Mutation_p.D195N|B4GALT3_uc009wud.1_Missense_Mutation_p.D195N	p.D195N	NM_003779	NP_003770	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	845	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		195			Lumenal (Potential).		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	c.583G>A	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587071	0.96578	0.0	1.16E-4	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000541560;ENST00000367998;ENST00000367997	T;T	0.61158	0.13;0.13	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	H	0.94462	3.54	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.96	D	0.85113	0.0964	10	0.66056	D	0.02	.	17.6222	0.88085	0.0:1.0:0.0:0.0	.	195;195	B3KPV4;O60512	.;B4GT3_HUMAN	N	195;172;195;195;195	ENSP00000320965:D195N;ENSP00000356977:D195N	ENSP00000320965:D195N	D	-	1	0	B4GALT3	159410370	1.000000	0.71417	0.894000	0.35097	0.988000	0.76386	7.651000	0.83577	2.688000	0.91661	0.655000	0.94253	GAT		PASS	0.522	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		17	43	17	43	---	---	---	---
TADA1	117143	broad.mit.edu	37	1	166829516	166829516	+	Missense_Mutation	SNP	C	C	T	rs367923603		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:166829516C>T	ENST00000367874.4	-	6	692	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	200					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.R200Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ATGACCATCTCGTAACCGATA	0.363																																						uc001gdw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)CGA>CAA		transcriptional adaptor 1-like		C	GLN/ARG	0,4406		0,0,2203	127.0	110.0	116.0		599	5.7	0.9	1		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	TADA1	NM_053053.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	200/336	166829516	1,13005	2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166829516C>T	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.599G>A	1.37:g.166829516C>T	ENSP00000356848:p.Arg200Gln					TADA1_uc001gdv.2_Missense_Mutation_p.R58Q	p.R200Q	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN			6	783	-			200					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.599G>A	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877807	0.91664	0.0	1.16E-4	ENSG00000152382	ENST00000367874	T	0.50813	0.73	5.73	5.73	0.89815	.	0.054774	0.64402	D	0.000001	T	0.33498	0.0865	M	0.64404	1.975	0.39741	D	0.971759	D	0.54601	0.967	B	0.42188	0.379	T	0.50857	-0.8778	9	0.72032	D	0.01	-20.3735	10.7811	0.46377	0.0:0.9146:0.0:0.0854	.	200	Q96BN2	TADA1_HUMAN	Q	200	ENSP00000356848:R200Q	ENSP00000356848:R200Q	R	-	2	0	TADA1	165096140	1.000000	0.71417	0.921000	0.36526	0.950000	0.60333	5.499000	0.66937	2.710000	0.92621	0.650000	0.86243	CGA		PASS	0.363	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		17	30	17	30	---	---	---	---
SLC19A2	10560	broad.mit.edu	37	1	169439384	169439384	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:169439384C>A	ENST00000236137.5	-	3	1084	c.848G>T	c.(847-849)tGg>tTg	p.W283L	SLC19A2_ENST00000367804.4_Missense_Mutation_p.W82L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	283					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)	p.W283L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	GAAATCATTCCATAGTACTTT	0.448																																						uc001gge.3																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)TGG>TTG		solute carrier family 19, member 2							100.0	98.0	99.0					1																	169439384		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169439384C>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.848G>T	1.37:g.169439384C>A	ENSP00000236137:p.Trp283Leu					SLC19A2_uc001ggf.3_Missense_Mutation_p.W82L	p.W283L	NM_006996	NP_008927	O60779	S19A2_HUMAN			3	1052	-	all_hematologic(923;0.208)		283			Cytoplasmic (Potential).		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.848G>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776455	0.49786	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.85339	-1.97;-1.97;-1.97	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.233736	0.44097	D	0.000487	T	0.72724	0.3496	L	0.40543	1.245	0.47476	D	0.999431	B;B	0.28082	0.2;0.009	B;B	0.21360	0.034;0.034	T	0.69540	-0.5118	9	0.23891	T	0.37	-6.0308	20.197	0.98244	0.0:1.0:0.0:0.0	.	82;283	O60779-2;O60779	.;S19A2_HUMAN	L	283;82;245	ENSP00000236137:W283L;ENSP00000356778:W82L;ENSP00000356776:W245L	ENSP00000236137:W283L	W	-	2	0	SLC19A2	167706008	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.694000	0.54742	2.776000	0.95493	0.585000	0.79938	TGG		PASS	0.448	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		5	56	5	56	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169823643	169823643	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:169823643G>C	ENST00000367770.1	-	12	1984	c.1937C>G	c.(1936-1938)cCc>cGc	p.P646R	SCYL3_ENST00000367771.6_Missense_Mutation_p.P592R|SCYL3_ENST00000367772.4_Missense_Mutation_p.P646R			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	646	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.P646R(1)|p.P592R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACCTTAAGGGGCCTTTCTTG	0.438																																						uc001ggs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1936-1938)CCC>CGC		SCY1-like 3 isoform 2							122.0	126.0	125.0					1																	169823643		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169823643G>C	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1937C>G	1.37:g.169823643G>C	ENSP00000356744:p.Pro646Arg					SCYL3_uc010plw.1_Missense_Mutation_p.P238R|SCYL3_uc001ggt.2_Missense_Mutation_p.P592R|SCYL3_uc001ggu.2_RNA	p.P646R	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN			13	2135	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		646			Interaction with EZR.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.1937C>G	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	3.643	-0.073117	0.07228	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770	T;T;T	0.41758	0.99;0.99;0.99	5.91	4.04	0.47022	.	1.216370	0.05691	N	0.592134	T	0.07999	0.0200	N	0.08118	0	0.20821	N	0.999845	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.003	T	0.33007	-0.9885	10	0.13108	T	0.6	-1.9422	7.4028	0.26973	0.0972:0.215:0.6877:0.0	.	238;592;646	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	R	646;592;646	ENSP00000356746:P646R;ENSP00000356745:P592R;ENSP00000356744:P646R	ENSP00000356744:P646R	P	-	2	0	SCYL3	168090267	0.000000	0.05858	0.448000	0.26945	0.438000	0.31896	0.134000	0.15932	0.831000	0.34780	0.655000	0.94253	CCC		PASS	0.438	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		18	86	18	86	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171510347	171510347	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:171510347A>T	ENST00000338920.4	+	16	3973	c.3736A>T	c.(3736-3738)Agt>Tgt	p.S1246C	PRRC2C_ENST00000367742.3_Missense_Mutation_p.S1248C|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S1246C|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S1248C	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1246					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.S1248C(2)									TGAAACACGGAGTGAGAGCTC	0.473																																						uc010pmg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3736-3738)AGT>TGT		HBxAg transactivated protein 2							56.0	57.0	57.0					1																	171510347		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171510347A>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3736A>T	1.37:g.171510347A>T	ENSP00000343629:p.Ser1246Cys					BAT2L2_uc010pmh.1_Missense_Mutation_p.S223C	p.S1246C	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	4002	+			1246					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.3736A>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854814	0.32791	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.11169	2.83;2.81;2.8;2.8	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000038	T	0.25865	0.0630	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02391	-1.1166	10	0.87932	D	0	.	15.9078	0.79445	1.0:0.0:0.0:0.0	.	1246	Q9Y520-4	.	C	1248;1247;1246;1248;1246;1003	ENSP00000375928:S1248C;ENSP00000410219:S1246C;ENSP00000356716:S1248C;ENSP00000343629:S1246C	ENSP00000343629:S1246C	S	+	1	0	PRRC2C	169776971	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	8.898000	0.92538	2.144000	0.66660	0.460000	0.39030	AGT		PASS	0.473	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		56	45	56	45	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171511306	171511306	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:171511306G>T	ENST00000338920.4	+	16	4932	c.4695G>T	c.(4693-4695)agG>agT	p.R1565S	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R1567S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1565S|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1567S	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1565					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1567S(2)									AATCAGGAAGGAATTTCTCAG	0.428																																						uc010pmg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(4693-4695)AGG>AGT		HBxAg transactivated protein 2							38.0	38.0	38.0					1																	171511306		2203	4299	6502	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171511306G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4695G>T	1.37:g.171511306G>T	ENSP00000343629:p.Arg1565Ser					BAT2L2_uc010pmh.1_Missense_Mutation_p.R542S	p.R1565S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	4961	+			1565					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.4695G>T	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.240|8.240	0.806714|0.806714	0.16467|0.16467	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.02050	.|4.48;4.48;4.48;4.48	5.87|5.87	1.84|1.84	0.25277|0.25277	.|.	.|0.000000	.|0.52532	.|D	.|0.000080	T|T	0.02494|0.02494	0.0076|0.0076	M|M	0.62723|0.62723	1.935|1.935	0.47037|0.47037	D|D	0.999297|0.999297	.|D	.|0.65815	.|0.995	.|P	.|0.60886	.|0.88	T|T	0.56335|0.56335	-0.7996|-0.7996	5|10	.|0.32370	.|T	.|0.25	.|.	4.7138|4.7138	0.12886|0.12886	0.3749:0.0:0.4874:0.1377|0.3749:0.0:0.4874:0.1377	.|.	.|1565	.|Q9Y520-4	.|.	V|S	113|1567;1566;1565;1567;1565;1322	.|ENSP00000375928:R1567S;ENSP00000410219:R1565S;ENSP00000356716:R1567S;ENSP00000343629:R1565S	.|ENSP00000343629:R1565S	G|R	+|+	2|3	0|2	PRRC2C|PRRC2C	169777930|169777930	0.925000|0.925000	0.31364|0.31364	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.017000|0.017000	0.13399|0.13399	0.360000|0.360000	0.24265|0.24265	-0.141000|-0.141000	0.14075|0.14075	GGA|AGG		PASS	0.428	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		19	7	19	7	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564385	176564385	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:176564385C>A	ENST00000367662.3	+	3	2809	c.1645C>A	c.(1645-1647)Ctg>Atg	p.L549M	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L549M	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	549	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L549M(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCAGATTCGTCTGCAGCACGA	0.567																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1645-1647)CTG>ATG		pappalysin 2 isoform 1							66.0	68.0	68.0					1																	176564385		2146	4247	6393	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564385C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1645C>A	1.37:g.176564385C>A	ENSP00000356634:p.Leu549Met					PAPPA2_uc001gky.1_Missense_Mutation_p.L549M|PAPPA2_uc009www.2_RNA	p.L549M	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2809	+			549			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1645C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	2.975	-0.211686	0.06140	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.70631	-0.5;-0.5	5.11	3.18	0.36537	.	0.595427	0.16291	N	0.220888	T	0.62392	0.2424	L	0.32530	0.975	0.09310	N	1	B;P	0.46706	0.129;0.883	B;B	0.44224	0.071;0.444	T	0.50923	-0.8770	10	0.30078	T	0.28	-8.5644	13.3795	0.60759	0.5574:0.4426:0.0:0.0	.	549;549	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	M	549	ENSP00000356634:L549M;ENSP00000356633:L549M	ENSP00000356633:L549M	L	+	1	2	PAPPA2	174831008	0.000000	0.05858	0.243000	0.24186	0.009000	0.06853	0.005000	0.13129	0.500000	0.27991	0.557000	0.71058	CTG		PASS	0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			10	42	10	42	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564722	176564722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:176564722C>A	ENST00000367662.3	+	3	3146	c.1982C>A	c.(1981-1983)tCa>tAa	p.S661*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.S661*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	661	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S661*(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACCCTGACTCACCCAAGAGG	0.498																																						uc001gkz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1981-1983)TCA>TAA		pappalysin 2 isoform 1							41.0	45.0	44.0					1																	176564722		2152	4247	6399	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564722C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1982C>A	1.37:g.176564722C>A	ENSP00000356634:p.Ser661*					PAPPA2_uc001gky.1_Nonsense_Mutation_p.S661*|PAPPA2_uc009www.2_RNA	p.S661*	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	3146	+			661			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.1982C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	49	15.534039	0.99837	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	.	.	.	5.42	5.42	0.78866	.	0.268542	0.37809	N	0.001938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.185	18.8444	0.92198	0.0:1.0:0.0:0.0	.	.	.	.	X	661	.	ENSP00000356633:S661X	S	+	2	0	PAPPA2	174831345	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.679000	0.84048	2.542000	0.85734	0.650000	0.86243	TCA		PASS	0.498	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			4	29	4	29	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176769217	176769217	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:176769217G>A	ENST00000367662.3	+	21	6315	c.5151G>A	c.(5149-5151)cgG>cgA	p.R1717R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1717	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1717R(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTGGCCGGCGTCAATGGC	0.498																																						uc001gkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5149-5151)CGG>CGA		pappalysin 2 isoform 1							133.0	129.0	130.0					1																	176769217		1936	4138	6074	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176769217G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5151G>A	1.37:g.176769217G>A						PAPPA2_uc009www.2_RNA	p.R1717R	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			21	6315	+			1717			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.5151G>A	CCDS41438.1																																																																																				PASS	0.498	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			34	79	34	79	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186277488	186277488	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:186277488G>A	ENST00000445192.2	+	7	2682	c.2637G>A	c.(2635-2637)gaG>gaA	p.E879E	PRG4_ENST00000367485.4_Silent_p.E786E|PRG4_ENST00000367484.3_Silent_p.E408E|PRG4_ENST00000367486.3_Silent_p.E836E|PRG4_ENST00000367483.4_Silent_p.E838E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	879					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E879E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAACTCCTGAGCTTTCTGCAG	0.488																																						uc001gru.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2635-2637)GAG>GAA		proteoglycan 4 isoform A							148.0	152.0	151.0					1																	186277488		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277488G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2637G>A	1.37:g.186277488G>A						PRG4_uc001grt.3_Silent_p.E838E|PRG4_uc009wyl.2_Silent_p.E786E|PRG4_uc009wym.2_Silent_p.E745E|PRG4_uc010poo.1_RNA	p.E879E	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2688	+			879					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2637G>A	CCDS1369.1																																																																																				PASS	0.488	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		165	116	165	116	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196881962	196881962	+	Intron	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:196881962T>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Missense_Mutation_p.C46S|CFHR4_ENST00000367418.2_Missense_Mutation_p.C117S|CFHR4_ENST00000251424.4_Missense_Mutation_p.C117S|CFHR4_ENST00000367416.2_Missense_Mutation_p.C363S			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.C117S(1)|p.C363S(1)		large_intestine(2)|ovary(1)|skin(3)	6						acaatataaatGTAAACCAGG	0.289																																						uc001gto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(349-351)TGT>AGT		complement factor H-related 4 precursor							55.0	60.0	58.0					1																	196881962		2198	4293	6491	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196881962T>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-36623T>A	1.37:g.196881962T>A						CFHR4_uc009wyy.2_Missense_Mutation_p.C363S|CFHR4_uc001gtp.2_Missense_Mutation_p.C364S	p.C117S	NM_006684	NP_006675	Q92496	FHR4_HUMAN			3	418	+			117			Sushi 2.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.349T>A		.	.	.	.	.	.	.	.	.	.	T	15.69	2.909201	0.52439	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.99778	-6.73;-6.73;-6.73	2.11	2.11	0.27256	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99806	0.9916	H	0.96691	3.865	0.18873	N	0.999985	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.995	D	0.98417	1.0575	9	0.87932	D	0	.	6.1801	0.20465	0.0:0.0:0.0:1.0	.	363;364;117	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	S	363;117;117;117	ENSP00000356386:C363S;ENSP00000356388:C117S;ENSP00000251424:C117S	ENSP00000251424:C117S	C	+	1	0	CFHR4	195148585	0.859000	0.29813	0.346000	0.25655	0.489000	0.33432	1.869000	0.39519	1.210000	0.43336	0.172000	0.16884	TGT		PASS	0.289	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		26	54	26	54	---	---	---	---
FAM58BP	339521	broad.mit.edu	37	1	200183331	200183331	+	IGR	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:200183331G>T								NR5A2 (36779 upstream) : RP11-532L16.3 (101231 downstream)																							GGTGCCCGCCGAGGTCGAGGC	0.562																																						uc009wzi.1																			0					0						c.(640-642)GAG>TAG		family with sequence similarity 58 member B							62.0	67.0	66.0					1																	200183331		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183331G>T																													1.37:g.200183331G>T							p.E214*	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	676	+	Prostate(682;0.19)		214						Nonsense_Mutation	SNP		37	c.640G>T																																																																																				0	PASS	0.562									4	69	4	69	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205034927	205034927	+	Missense_Mutation	SNP	T	T	A	rs372229713		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:205034927T>A	ENST00000331830.4	+	14	1990	c.1706T>A	c.(1705-1707)aTt>aAt	p.I569N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	569	Ig-like C2-type 6.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.I569N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGGAGACCATTGGGGATCTG	0.637																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1705-1707)ATT>AAT		contactin 2 precursor							80.0	71.0	74.0					1																	205034927		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205034927T>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1706T>A	1.37:g.205034927T>A	ENSP00000330633:p.Ile569Asn					CNTN2_uc001hbq.1_Missense_Mutation_p.I460N|CNTN2_uc001hbs.2_Missense_Mutation_p.I357N	p.I569N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		14	1975	+	all_cancers(21;0.144)|Breast(84;0.0437)		569			Ig-like C2-type 6.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.1706T>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	T	6.525	0.465077	0.12402	.	.	ENSG00000184144	ENST00000331830	T	0.66995	-0.24	5.58	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.565792	0.15627	N	0.252602	T	0.40067	0.1102	N	0.03000	-0.44	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.15150	-1.0447	10	0.12430	T	0.62	.	12.1794	0.54204	0.0:0.0:0.1432:0.8568	.	569;460	Q02246;Q68DA2	CNTN2_HUMAN;.	N	569	ENSP00000330633:I569N	ENSP00000330633:I569N	I	+	2	0	CNTN2	203301550	0.876000	0.30132	0.009000	0.14445	0.122000	0.20287	5.765000	0.68834	0.902000	0.36520	0.383000	0.25322	ATT		PASS	0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		11	36	11	36	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207639950	207639950	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:207639950G>A	ENST00000367058.3	+	2	327	c.138G>A	c.(136-138)gtG>gtA	p.V46V	CR2_ENST00000367059.3_Silent_p.V46V|CR2_ENST00000458541.2_Silent_p.V46V|CR2_ENST00000367057.3_Silent_p.V46V	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	46	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.V46V(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGGTACCGTGATAAGGTACA	0.433																																						uc001hfw.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(136-138)GTG>GTA		complement component (3d/Epstein Barr virus)							120.0	122.0	121.0					1																	207639950		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207639950G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.138G>A	1.37:g.207639950G>A						CR2_uc001hfv.2_Silent_p.V46V|CR2_uc009xch.2_Silent_p.V46V	p.V46V	NM_001877	NP_001868	P20023	CR2_HUMAN			2	232	+			46			Sushi 1.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.138G>A	CCDS1478.1																																																																																				PASS	0.433	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		8	127	8	127	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220153567	220153567	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:220153567C>G	ENST00000366923.3	-	26	3840	c.3571G>C	c.(3571-3573)Gac>Cac	p.D1191H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1191	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.D1191H(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GCATATAAGTCAAGTATCTGC	0.328																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3571-3573)GAC>CAC		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						95.0	90.0	92.0					1																	220153567		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220153567C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3571G>C	1.37:g.220153567C>G	ENSP00000355890:p.Asp1191His						p.D1191H	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	26	3841	-			1191			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3571G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427883	0.83667	.	.	ENSG00000136628	ENST00000366923	T	0.68624	-0.34	5.96	5.05	0.67936	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.087094	0.85682	D	0.000000	D	0.83514	0.5271	M	0.88775	2.98	0.58432	D	0.999998	D	0.60160	0.987	D	0.67900	0.954	D	0.86701	0.1929	10	0.62326	D	0.03	-19.0546	15.106	0.72322	0.0:0.9324:0.0:0.0676	.	1191	P07814	SYEP_HUMAN	H	1191	ENSP00000355890:D1191H	ENSP00000355890:D1191H	D	-	1	0	EPRS	218220190	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.605000	0.82844	1.527000	0.49086	0.655000	0.94253	GAC		PASS	0.328	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		42	34	42	34	---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221912353	221912353	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:221912353C>A	ENST00000366899.3	-	2	972	c.734G>T	c.(733-735)cGa>cTa	p.R245L	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000468085.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	245	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R245L(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGGCATCACTCGGCTTGGTTC	0.468																																						uc001hmy.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(733-735)CGA>CTA		dual specificity phosphatase 10 isoform a							146.0	151.0	149.0					1																	221912353		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221912353C>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.734G>T	1.37:g.221912353C>A	ENSP00000355866:p.Arg245Leu					DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	p.R245L	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	916	-			245			Rhodanese.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.734G>T	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753520	0.49362	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.25912	1.77	5.76	4.86	0.63082	Rhodanese-like (5);	0.000000	0.64402	D	0.000001	T	0.27419	0.0673	L	0.54323	1.7	0.80722	D	1	B	0.19445	0.036	B	0.17433	0.018	T	0.03433	-1.1037	10	0.46703	T	0.11	.	14.5445	0.68017	0.0:0.93:0.0:0.07	.	245	Q9Y6W6	DUS10_HUMAN	L	245;190	ENSP00000355866:R245L	ENSP00000355866:R245L	R	-	2	0	DUSP10	219978976	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	1.449000	0.47699	0.591000	0.81541	CGA		PASS	0.468	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		4	106	4	106	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222717398	222717398	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:222717398G>A	ENST00000343410.6	-	2	513	c.455C>T	c.(454-456)aCc>aTc	p.T152I		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	152					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.T152I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGGTCATTGGTCAGCAGGGA	0.572																																						uc001hnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)ACC>ATC		HHIP-like 2 precursor							76.0	88.0	84.0					1																	222717398		2090	4231	6321	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717398G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.455C>T	1.37:g.222717398G>A	ENSP00000342118:p.Thr152Ile						p.T152I	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	513	-			152					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.455C>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500827	0.64298	.	.	ENSG00000143512	ENST00000343410	T	0.37584	1.19	5.36	5.36	0.76844	Folate receptor-like (1);	0.152084	0.56097	D	0.000026	T	0.59756	0.2217	M	0.79805	2.47	0.50813	D	0.999893	P	0.45078	0.85	P	0.55391	0.775	T	0.62868	-0.6763	10	0.56958	D	0.05	-18.9312	18.6915	0.91585	0.0:0.0:1.0:0.0	.	152	Q6UWX4	HIPL2_HUMAN	I	152	ENSP00000342118:T152I	ENSP00000342118:T152I	T	-	2	0	HHIPL2	220784021	0.995000	0.38212	1.000000	0.80357	0.521000	0.34408	4.287000	0.59001	2.489000	0.83994	0.591000	0.81541	ACC		PASS	0.572	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		13	91	13	91	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247420126	247420126	+	IGR	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:247420126T>A								RP11-488L18.8 (15001 upstream) : Y_RNA (38010 downstream)																							GCTATCTCAGTGCCTTCACAC	0.468																																						uc010pyu.1																			0					0						c.(751-753)AGT>AGA		vomeronasal 1 receptor 5							105.0	105.0	105.0					1																	247420126		1930	4138	6068	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247420126T>A																													1.37:g.247420126T>A							p.S251R	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	753	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	251			Cytoplasmic (Potential).			Missense_Mutation	SNP		37	c.753T>A																																																																																				0	PASS	0.468									25	90	25	90	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436684	248436684	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:248436684A>G	ENST00000318021.2	-	1	454	c.433T>C	c.(433-435)Tcg>Ccg	p.S145P		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S145P(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCCAACACGACATGGTCATC	0.577																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(433-435)TCG>CCG		olfactory receptor, family 2, subfamily T,							144.0	137.0	139.0					1																	248436684		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436684A>G		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.433T>C	1.37:g.248436684A>G	ENSP00000324687:p.Ser145Pro						p.S145P	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	433	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		145			Helical; Name=4; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.433T>C	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	2.379	-0.342463	0.05243	.	.	ENSG00000177212	ENST00000318021	T	0.37915	1.17	2.7	0.583	0.17417	GPCR, rhodopsin-like superfamily (1);	1.181920	0.06684	U	0.768411	T	0.40619	0.1124	M	0.74647	2.275	0.09310	N	1	B	0.26147	0.143	B	0.32864	0.154	T	0.46428	-0.9192	10	0.66056	D	0.02	.	5.083	0.14666	0.3645:0.5272:0.0:0.1083	.	145	Q8NG76	O2T33_HUMAN	P	145	ENSP00000324687:S145P	ENSP00000324687:S145P	S	-	1	0	OR2T33	246503307	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.395000	0.02516	-0.014000	0.14175	-0.523000	0.04350	TCG		PASS	0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		43	116	43	116	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512734	248512734	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:248512734T>A	ENST00000317861.1	+	1	658	c.658T>A	c.(658-660)Ttt>Att	p.F220I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F220I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CATTCACATCTTTTCGACCGT	0.498																																						uc010pzl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(658-660)TTT>ATT		olfactory receptor, family 14, subfamily C,							191.0	157.0	169.0					1																	248512734		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512734T>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.658T>A	1.37:g.248512734T>A	ENSP00000324534:p.Phe220Ile						p.F220I	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	658	+			220			Cytoplasmic (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.658T>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.031058	0.35797	.	.	ENSG00000177174	ENST00000317861	T	0.00123	8.7	3.91	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000198	T	0.00109	0.0003	N	0.20574	0.59	0.09310	N	1	P	0.39737	0.685	B	0.42245	0.381	T	0.31779	-0.9931	10	0.34782	T	0.22	.	5.2229	0.15377	0.2807:0.0:0.1508:0.5685	.	220	Q8NHC7	O14CZ_HUMAN	I	220	ENSP00000324534:F220I	ENSP00000324534:F220I	F	+	1	0	OR14C36	246579357	0.000000	0.05858	0.979000	0.43373	0.307000	0.27823	-1.068000	0.03447	1.654000	0.50703	0.324000	0.21423	TTT		PASS	0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		18	59	18	59	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248845378	248845378	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:248845378C>A	ENST00000342623.3	-	1	251	c.228G>T	c.(226-228)gtG>gtT	p.V76V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V76V(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGGATTTAGGCACAGTGACTG	0.473																																						uc001ieu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)GTG>GTT		olfactory receptor, family 14, subfamily I,							137.0	116.0	123.0					1																	248845378		2203	4300	6503	SO:0001819	synonymous_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845378C>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.228G>T	1.37:g.248845378C>A							p.V76V	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	228	-			76			Helical; Name=2; (Potential).			Silent	SNP	ENST00000342623.3	37	c.228G>T	CCDS31125.1																																																																																				PASS	0.473	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		11	38	11	38	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17906556	17906556	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:17906556T>C	ENST00000448223.2	-	9	963	c.694A>G	c.(694-696)Aga>Gga	p.R232G	SMC6_ENST00000402989.1_Missense_Mutation_p.R232G|SMC6_ENST00000351948.4_Missense_Mutation_p.R232G|SMC6_ENST00000381272.4_Missense_Mutation_p.R258G	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	232					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.R232G(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTTTGTTCTTTCTTTCGTT	0.303																																						uc002rco.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(694-696)AGA>GGA		SMC6 protein							162.0	131.0	141.0					2																	17906556		2203	4296	6499	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17906556T>C	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.694A>G	2.37:g.17906556T>C	ENSP00000404092:p.Arg232Gly					SMC6_uc010exo.2_Missense_Mutation_p.R232G|SMC6_uc002rcn.2_Missense_Mutation_p.R232G|SMC6_uc002rcp.1_Missense_Mutation_p.R258G|SMC6_uc002rcq.2_Missense_Mutation_p.R258G|SMC6_uc002rcr.1_Missense_Mutation_p.R232G	p.R232G	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			9	990	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		232			Potential.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.694A>G	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371773	0.61624	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	5.74	4.58	0.56647	RecF/RecN/SMC (1);	0.281603	0.44483	D	0.000453	T	0.09335	0.0230	L	0.36672	1.1	0.32585	N	0.527973	P;B;B	0.42375	0.778;0.049;0.12	B;B;B	0.43623	0.425;0.064;0.159	T	0.11665	-1.0578	10	0.30854	T	0.27	.	11.7824	0.52021	0.0:0.0696:0.0:0.9304	.	258;258;232	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	G	232;232;258;232;258	ENSP00000404092:R232G;ENSP00000323439:R232G;ENSP00000370672:R258G;ENSP00000384539:R232G;ENSP00000408644:R258G	ENSP00000323439:R232G	R	-	1	2	SMC6	17770037	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.943000	0.56621	1.107000	0.41642	-0.297000	0.09499	AGA		PASS	0.303	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		26	28	26	28	---	---	---	---
APOB	338	broad.mit.edu	37	2	21232746	21232746	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:21232746C>T	ENST00000233242.1	-	26	7121	c.6994G>A	c.(6994-6996)Gag>Aag	p.E2332K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2332					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E2332K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGATTTTCTCAGCTACTTCA	0.343																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6994-6996)GAG>AAG		apolipoprotein B precursor	Atorvastatin(DB01076)						100.0	101.0	101.0					2																	21232746		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232746C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6994G>A	2.37:g.21232746C>T	ENSP00000233242:p.Glu2332Lys						p.E2332K	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7122	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2332					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6994G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350692	0.24512	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01113	5.32	5.76	4.88	0.63580	.	0.192139	0.36066	N	0.002816	T	0.01800	0.0057	L	0.49126	1.545	0.80722	D	1	B	0.28760	0.221	B	0.20577	0.03	T	0.57027	-0.7881	10	0.66056	D	0.02	.	14.7879	0.69816	0.0:0.9308:0.0:0.0692	.	2332	P04114	APOB_HUMAN	K	2332	ENSP00000233242:E2332K	ENSP00000233242:E2332K	E	-	1	0	APOB	21086251	0.991000	0.36638	0.912000	0.35992	0.087000	0.18053	3.003000	0.49505	1.433000	0.47394	0.561000	0.74099	GAG		PASS	0.343	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			13	84	13	84	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27121593	27121593	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:27121593G>T	ENST00000288699.6	+	2	384	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	DPYSL5_ENST00000401478.1_Missense_Mutation_p.A76S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	76					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.A76S(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCATGAATGCCACGTGCGT	0.537																																						uc002rhu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(226-228)GCC>TCC		dihydropyrimidinase-like 5							92.0	86.0	88.0					2																	27121593		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121593G>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.226G>T	2.37:g.27121593G>T	ENSP00000288699:p.Ala76Ser					DPYSL5_uc002rhv.3_Missense_Mutation_p.A76S	p.A76S	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			2	384	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		76					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.226G>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731032	0.48939	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.90444	-1.05;-2.67;-2.67;-1.06;-1.06	4.99	4.11	0.48088	Amidohydrolase 1 (1);	0.050076	0.85682	D	0.000000	D	0.85358	0.5678	L	0.33668	1.02	0.36802	D	0.885404	B	0.19073	0.033	B	0.23150	0.044	D	0.83537	0.0094	10	0.45353	T	0.12	-30.8303	12.5711	0.56337	0.0826:0.0:0.9174:0.0	.	76	Q9BPU6	DPYL5_HUMAN	S	76	ENSP00000407174:A76S;ENSP00000288699:A76S;ENSP00000385549:A76S;ENSP00000399581:A76S;ENSP00000413075:A76S	ENSP00000288699:A76S	A	+	1	0	DPYSL5	26975097	1.000000	0.71417	0.828000	0.32881	0.924000	0.55760	5.207000	0.65197	1.238000	0.43771	-0.136000	0.14681	GCC		PASS	0.537	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		14	40	14	40	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27800671	27800671	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:27800671T>A	ENST00000408964.2	+	1	1283	c.1232T>A	c.(1231-1233)cTa>cAa	p.L411Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	411						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.L411Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGCAATGGCTACAAATGGAG	0.468																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1231-1233)CTA>CAA		hypothetical protein LOC84226							74.0	70.0	71.0					2																	27800671		1871	4114	5985	SO:0001583	missense	84226							g.chr2:27800671T>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1232T>A	2.37:g.27800671T>A	ENSP00000386190:p.Leu411Gln						p.L411Q	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1283	+	Acute lymphoblastic leukemia(172;0.155)		411					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1232T>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062455	0.36373	.	.	ENSG00000221843	ENST00000408964	T	0.10288	2.89	3.0	1.85	0.25348	.	.	.	.	.	T	0.16811	0.0404	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.11372	-1.0590	9	0.66056	D	0.02	.	4.6525	0.12601	0.0:0.149:0.0:0.851	.	411	Q68DN1	CB016_HUMAN	Q	411	ENSP00000386190:L411Q	ENSP00000386190:L411Q	L	+	2	0	C2orf16	27654175	0.000000	0.05858	0.003000	0.11579	0.028000	0.11728	-0.365000	0.07573	0.570000	0.29347	0.383000	0.25322	CTA		PASS	0.468	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		16	68	16	68	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27801331	27801331	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:27801331G>A	ENST00000408964.2	+	1	1943	c.1892G>A	c.(1891-1893)tGt>tAt	p.C631Y		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	631						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.C631Y(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAATAAATTGTGTGGATTTA	0.408																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1891-1893)TGT>TAT		hypothetical protein LOC84226							84.0	79.0	80.0					2																	27801331		1869	4111	5980	SO:0001583	missense	84226							g.chr2:27801331G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1892G>A	2.37:g.27801331G>A	ENSP00000386190:p.Cys631Tyr						p.C631Y	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1943	+	Acute lymphoblastic leukemia(172;0.155)		631					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1892G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	1.683	-0.506035	0.04261	.	.	ENSG00000221843	ENST00000408964	T	0.06371	3.31	4.69	-0.931	0.10438	.	.	.	.	.	T	0.04452	0.0122	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.41016	-0.9532	9	0.44086	T	0.13	.	4.0515	0.09798	0.3336:0.3407:0.3256:0.0	.	631	Q68DN1	CB016_HUMAN	Y	631	ENSP00000386190:C631Y	ENSP00000386190:C631Y	C	+	2	0	C2orf16	27654835	0.002000	0.14202	0.006000	0.13384	0.034000	0.12701	0.259000	0.18405	-0.000000	0.14550	-0.264000	0.10439	TGT		PASS	0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		54	22	54	22	---	---	---	---
CCDC121	79635	broad.mit.edu	37	2	27852010	27852010	+	5'Flank	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:27852010G>T	ENST00000324364.3	-	0	0				RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_Intron|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000458167.2_Intron|GPN1_ENST00000610189.1_Nonsense_Mutation_p.G29*|CCDC121_ENST00000394775.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000264718.3_Nonsense_Mutation_p.G43*|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000424214.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121									p.G29*(4)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GGGAATGGCGGGATCCGGGAA	0.622																																						uc010ymc.1																			4	Substitution - Nonsense(4)		lung(4)		0						c.(127-129)GGA>TGA		GPN-loop GTPase 1 isoform a							89.0	87.0	88.0					2																	27852010		2203	4300	6503	SO:0001631	upstream_gene_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27852010G>T	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427		2.37:g.27852010G>T	Exception_encountered					ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_5'Flank|CCDC121_uc002rld.2_5'Flank|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Intron|GPN1_uc010yma.1_Intron|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_5'UTR|GPN1_uc010yme.1_Nonsense_Mutation_p.G43*|GPN1_uc010ezg.1_5'Flank	p.G43*	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			1	148	+			29			GTP (Pootential).		B3KW66|J3KQZ8|Q9H8G6	Nonsense_Mutation	SNP	ENST00000324364.3	37	c.127G>T	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195711	0.94960	.	.	ENSG00000198522	ENST00000264718	.	.	.	5.18	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	1.0602	10.8466	0.46746	0.0878:0.0:0.9122:0.0	.	.	.	.	X	43	.	ENSP00000264718:G43X	G	+	1	0	GPN1	27705514	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.661000	0.83786	1.421000	0.47157	0.591000	0.81541	GGA		PASS	0.622	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		8	38	8	38	---	---	---	---
SLC4A1AP	22950	broad.mit.edu	37	2	27887973	27887973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:27887973G>T	ENST00000326019.6	+	2	1114	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000406540.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	278						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E278*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TCAGGGACCAGAGGAAGACCG	0.453																																						uc002rlk.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(832-834)GAG>TAG		solute carrier family 4 (anion exchanger),							107.0	116.0	113.0					2																	27887973		2203	4300	6503	SO:0001587	stop_gained	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27887973G>T		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.832G>T	2.37:g.27887973G>T	ENSP00000323837:p.Glu278*					SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	p.E278*	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			2	1114	+	Acute lymphoblastic leukemia(172;0.155)		278					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Nonsense_Mutation	SNP	ENST00000326019.6	37	c.832G>T	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.836155	0.98516	.	.	ENSG00000163798	ENST00000326019	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.2232	14.3153	0.66446	0.0733:0.0:0.9267:0.0	.	.	.	.	X	278	.	ENSP00000323837:E278X	E	+	1	0	SLC4A1AP	27741477	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.062000	0.76706	2.487000	0.83934	0.462000	0.41574	GAG		PASS	0.453	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		7	135	7	135	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43927638	43927638	+	Missense_Mutation	SNP	A	A	G	rs144437669		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:43927638A>G	ENST00000282406.4	+	8	1651	c.1541A>G	c.(1540-1542)tAt>tGt	p.Y514C		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	514					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.Y514C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTATTTTCCTATGACTCCTTG	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		20224	0.0		0.0	False		,,,				2504	0.001					uc010yny.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1540-1542)TAT>TGT		pleckstrin homology domain containing, family H		A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	170.0	170.0	170.0		1541	-4.1	0.0	2	dbSNP_134	170	0,8600		0,0,4300	no	missense	PLEKHH2	NM_172069.3	194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	514/1494	43927638	1,13005	2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43927638A>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1541A>G	2.37:g.43927638A>G	ENSP00000282406:p.Tyr514Cys					PLEKHH2_uc002rte.3_Missense_Mutation_p.Y514C|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Y513C	p.Y514C	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			8	1624	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	514					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.1541A>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	7.267	0.606284	0.14002	2.27E-4	0.0	ENSG00000152527	ENST00000282406	T	0.72942	-0.7	5.57	-4.09	0.03951	.	0.830981	0.11229	N	0.585844	T	0.48077	0.1480	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.002;0.006	T	0.26430	-1.0103	10	0.41790	T	0.15	1.1242	2.7542	0.05288	0.4575:0.1142:0.3182:0.1101	.	514;514	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	C	514	ENSP00000282406:Y514C	ENSP00000282406:Y514C	Y	+	2	0	PLEKHH2	43781142	0.009000	0.17119	0.001000	0.08648	0.793000	0.44817	0.488000	0.22371	-0.779000	0.04560	-1.229000	0.01577	TAT		PASS	0.448	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		22	124	22	124	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48027187	48027187	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:48027187T>G	ENST00000234420.5	+	4	2217	c.2065T>G	c.(2065-2067)Ttc>Gtc	p.F689V	MSH6_ENST00000538136.1_Missense_Mutation_p.F387V|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.F559V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	689					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.F689V(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGTTGTGTCTTCTACCTCAA	0.423			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	Mis|N|F|S	mutS homolog 6 (E. coli)			E		colorectal|endometrial|ovarian	colorectal		3	Whole gene deletion(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.(2065-2067)TTC>GTC	MMR	mutS homolog 6							173.0	166.0	169.0					2																	48027187		2203	4300	6503	SO:0001583	missense	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48027187T>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2065T>G	2.37:g.48027187T>G	ENSP00000234420:p.Phe689Val					MSH6_uc002rwc.2_Missense_Mutation_p.F689V|MSH6_uc010fbj.2_Missense_Mutation_p.F387V|MSH6_uc010yoi.1_Missense_Mutation_p.F559V|MSH6_uc010yoj.1_Missense_Mutation_p.F387V	p.F689V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2217	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	689					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.2065T>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419010	0.62622	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87412	-2.25;-2.25;-2.25	5.01	5.01	0.66863	DNA mismatch repair protein MutS, connector (1);	0.048053	0.85682	D	0.000000	D	0.91280	0.7251	M	0.75777	2.31	0.80722	D	1	P;P;P	0.47191	0.891;0.741;0.883	P;P;P	0.55391	0.698;0.491;0.775	D	0.91477	0.5201	10	0.48119	T	0.1	-6.3628	14.8876	0.70582	0.0:0.0:0.0:1.0	.	559;689;689	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	689;687;559;387	ENSP00000234420:F689V;ENSP00000446475:F559V;ENSP00000438580:F387V	ENSP00000234420:F689V	F	+	1	0	MSH6	47880691	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.809000	0.86057	2.108000	0.64289	0.377000	0.23210	TTC		PASS	0.423	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		42	152	42	152	---	---	---	---
FANCL	55120	broad.mit.edu	37	2	58392929	58392929	+	Silent	SNP	G	G	T	rs374195602		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:58392929G>T	ENST00000233741.4	-	8	657	c.621C>A	c.(619-621)atC>atA	p.I207I	FANCL_ENST00000403676.1_Silent_p.I90I|FANCL_ENST00000540646.1_3'UTR|FANCL_ENST00000402135.3_Silent_p.I212I|FANCL_ENST00000403295.3_Silent_p.I207I	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	207	UBC-RWD region (URD).				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I207I(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						TCTTCTCATCGATTTCATCCA	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002rzw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(619-621)ATC>ATA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group L isoform							148.0	148.0	148.0					2																	58392929		2203	4300	6503	SO:0001819	synonymous_variant	55120	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58392929G>T	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.621C>A	2.37:g.58392929G>T						FANCL_uc002rzx.3_Silent_p.I212I|FANCL_uc010fce.2_Silent_p.I207I|FANCL_uc010fcf.1_Silent_p.I148I	p.I207I	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN			8	688	-			207					Q6GU60	Silent	SNP	ENST00000233741.4	37	c.621C>A	CCDS1860.1																																																																																				PASS	0.408	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		52	25	52	25	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63720003	63720003	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:63720003G>T	ENST00000272321.7	-	2	674	c.147C>A	c.(145-147)acC>acA	p.T49T	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.T49T	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	49					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.T49T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CAATGTGTAAGGTATTCTTCA	0.348																																						uc002sch.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)ACC>ACA		hypothetical protein LOC51057 isoform 2							105.0	105.0	105.0					2																	63720003		1831	4090	5921	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63720003G>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.147C>A	2.37:g.63720003G>T						C2orf86_uc002sci.1_Silent_p.T25T	p.T49T	NM_015910	NP_056994	O95876	FRITZ_HUMAN			2	593	-			49					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.147C>A	CCDS42688.1																																																																																				PASS	0.348	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		8	235	8	235	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71883310	71883310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:71883310G>T	ENST00000258104.3	+	42	4805	c.4528G>T	c.(4528-4530)Gag>Tag	p.E1510*	DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1528*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1527*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1531*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1548*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1541*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1532*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1518*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1511*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1549*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1542*|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1510					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.E1510*(1)|p.E1549*(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACACAGCTGGAGAATGTGGA	0.498																																						uc002sie.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4528-4530)GAG>TAG		dysferlin isoform 8							168.0	167.0	167.0					2																	71883310		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883310G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4528G>T	2.37:g.71883310G>T	ENSP00000258104:p.Glu1510*					DYSF_uc010feg.2_Nonsense_Mutation_p.E1541*|DYSF_uc010feh.2_Nonsense_Mutation_p.E1517*|DYSF_uc002sig.3_Nonsense_Mutation_p.E1496*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.E1531*|DYSF_uc010fef.2_Nonsense_Mutation_p.E1548*|DYSF_uc010fei.2_Nonsense_Mutation_p.E1527*|DYSF_uc010fek.2_Nonsense_Mutation_p.E1528*|DYSF_uc010fej.2_Nonsense_Mutation_p.E1518*|DYSF_uc010fel.2_Nonsense_Mutation_p.E1497*|DYSF_uc010feo.2_Nonsense_Mutation_p.E1542*|DYSF_uc010fem.2_Nonsense_Mutation_p.E1532*|DYSF_uc010fen.2_Nonsense_Mutation_p.E1549*|DYSF_uc002sif.2_Nonsense_Mutation_p.E1511*|DYSF_uc010yqy.1_Nonsense_Mutation_p.E391*|DYSF_uc010yqz.1_Nonsense_Mutation_p.E271*	p.E1510*	NM_003494	NP_003485	O75923	DYSF_HUMAN			42	4904	+			1510			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.4528G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	48	13.920655	0.99770	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.54	5.54	0.83059	.	0.095870	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-41.3185	17.0271	0.86450	0.0:0.0:1.0:0.0	.	.	.	.	X	1541;1527;1548;1531;1510;1542;1511;1518;1532;1549;1528	.	ENSP00000258104:E1510X	E	+	1	0	DYSF	71736818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.524000	0.98036	2.884000	0.98904	0.655000	0.94253	GAG		PASS	0.498	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	175	7	175	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73762076	73762076	+	Splice_Site	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:73762076G>T	ENST00000264448.6	+	12	10015	c.9904G>T	c.(9904-9906)Gga>Tga	p.G3302*	ALMS1_ENST00000409009.1_Splice_Site_p.G3260*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3302					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.G3302*(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCCCATTCAGGTATTATGCA	0.358																																						uc002sje.1																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(9910-9912)GGA>TGA		Alstrom syndrome 1							143.0	136.0	138.0					2																	73762076		1818	4075	5893	SO:0001630	splice_region_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73762076G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9904+1G>T	2.37:g.73762076G>T						ALMS1_uc002sjf.1_Nonsense_Mutation_p.G3260*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.G2690*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.G2690*|ALMS1_uc010fev.1_Missense_Mutation_p.D119Y	p.G3304*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			14	10021	+			3302					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.9910G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	52	18.629298	0.99908	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.76	4.76	0.60689	.	0.000000	0.45361	D	0.000371	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.1233	0.59340	0.0:0.0:1.0:0.0	.	.	.	.	X	3260;3302	.	ENSP00000264448:G3302X	G	+	1	0	ALMS1	73615584	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.651000	0.54431	2.463000	0.83235	0.491000	0.48974	GGA		PASS	0.358	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	Nonsense_Mutation	10	233	10	233	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746050	77746050	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:77746050G>A	ENST00000409093.1	-	3	1281	c.945C>T	c.(943-945)tgC>tgT	p.C315C	LRRTM4_ENST00000409088.3_Silent_p.C315C|LRRTM4_ENST00000409282.1_Silent_p.C316C|LRRTM4_ENST00000409884.1_Silent_p.C315C|LRRTM4_ENST00000409911.1_Silent_p.C316C			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	315	LRRCT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.C315C(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCTCCGACTGCATTCCCACA	0.393																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(943-945)TGC>TGT		leucine rich repeat transmembrane neuronal 4							40.0	36.0	37.0					2																	77746050		1860	4098	5958	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77746050G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.945C>T	2.37:g.77746050G>A						LRRTM4_uc002snq.2_Silent_p.C315C|LRRTM4_uc002sns.2_Silent_p.C315C|LRRTM4_uc002snt.2_Silent_p.C316C	p.C315C	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1360	-			315			LRRCT.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.945C>T	CCDS46346.1																																																																																				PASS	0.393	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		6	19	6	19	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746622	77746622	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:77746622G>C	ENST00000409093.1	-	3	709	c.373C>G	c.(373-375)Cac>Gac	p.H125D	LRRTM4_ENST00000409088.3_Missense_Mutation_p.H125D|LRRTM4_ENST00000409282.1_Missense_Mutation_p.H126D|LRRTM4_ENST00000409884.1_Missense_Mutation_p.H125D|LRRTM4_ENST00000409911.1_Missense_Mutation_p.H126D			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	125					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.H125D(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTTATTGTGCAGATAAGTA	0.383																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(373-375)CAC>GAC		leucine rich repeat transmembrane neuronal 4							145.0	129.0	134.0					2																	77746622		1839	4086	5925	SO:0001583	missense	80059					integral to membrane		g.chr2:77746622G>C	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.373C>G	2.37:g.77746622G>C	ENSP00000386357:p.His125Asp					LRRTM4_uc002snq.2_Missense_Mutation_p.H125D|LRRTM4_uc002sns.2_Missense_Mutation_p.H125D|LRRTM4_uc002snt.2_Missense_Mutation_p.H126D	p.H125D	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	788	-			125			LRR 3.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.373C>G	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	5.167	0.216461	0.09810	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73	5.96	5.96	0.96718	.	0.346611	0.34676	N	0.003779	T	0.03178	0.0093	N	0.02266	-0.62	0.36980	D	0.894237	B;B;B	0.29232	0.238;0.2;0.238	B;B;B	0.34590	0.186;0.117;0.186	T	0.57854	-0.7739	10	0.41790	T	0.15	.	14.5615	0.68140	0.0:0.1461:0.8539:0.0	.	126;125;125	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	D	126;125;125;125;126	ENSP00000387228:H126D;ENSP00000387297:H125D;ENSP00000386357:H125D;ENSP00000386236:H125D;ENSP00000386286:H126D	ENSP00000386236:H125D	H	-	1	0	LRRTM4	77600130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.708000	0.47152	2.826000	0.97356	0.655000	0.94253	CAC		PASS	0.383	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		15	59	15	59	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86292414	86292414	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:86292414G>A	ENST00000263857.6	-	14	2419	c.2041C>T	c.(2041-2043)Ctg>Ttg	p.L681L	POLR1A_ENST00000409681.1_Silent_p.L681L|POLR1A_ENST00000483538.1_5'UTR			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	681					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.L681L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTGTCCACAGCGGAAAGGGC	0.493																																						uc002sqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2041-2043)CTG>TTG		DNA-directed RNA polymerase I A							106.0	108.0	107.0					2																	86292414		1931	4128	6059	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86292414G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2041C>T	2.37:g.86292414G>A						POLR1A_uc010ytb.1_Silent_p.L47L	p.L681L	NM_015425	NP_056240	O95602	RPA1_HUMAN			14	2420	-			681					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.2041C>T	CCDS42706.1																																																																																				PASS	0.493	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		14	114	14	114	---	---	---	---
RMND5A	64795	broad.mit.edu	37	2	86980655	86980655	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:86980655G>T	ENST00000283632.4	+	4	990	c.495G>T	c.(493-495)aaG>aaT	p.K165N		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	165	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.							p.K165N(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AGGCATTAAAGGTCAGAGTTC	0.368																																						uc010ytm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(493-495)AAG>AAT		required for meiotic nuclear division 5 homolog							131.0	129.0	130.0					2																	86980655		2203	4300	6503	SO:0001583	missense	64795							g.chr2:86980655G>T	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.495G>T	2.37:g.86980655G>T	ENSP00000283632:p.Lys165Asn					RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.K165N	p.K165N	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN			4	872	+			165			CTLH.		D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	c.495G>T	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762451	0.69763	.	.	ENSG00000153561	ENST00000283632	.	.	.	6.07	3.72	0.42706	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.65320	2	0.50813	D	0.999893	P	0.41188	0.741	P	0.48770	0.589	T	0.60005	-0.7347	9	0.62326	D	0.03	-9.8332	8.2046	0.31446	0.7771:0.0:0.2229:0.0	.	165	Q9H871	RMD5A_HUMAN	N	165	.	ENSP00000283632:K165N	K	+	3	2	RMND5A	86834166	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.815000	0.48018	0.542000	0.28846	-0.482000	0.04802	AAG		PASS	0.368	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		5	71	5	71	---	---	---	---
IGKJ5	28946	broad.mit.edu	37	2	89160397	89160397	+	RNA	SNP	C	C	A	rs141201227	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:89160397C>A	ENST00000390238.2	-	0	0				IGKJ3_ENST00000390240.2_RNA|AC096579.13_ENST00000452230.1_RNA|IGKJ2_ENST00000390241.2_RNA|IGKJ1_ENST00000390242.2_RNA|AC096579.7_ENST00000430694.1_RNA|IGKJ4_ENST00000390239.2_RNA					immunoglobulin kappa joining 5																		AGTGCACTTACGTTTGATCTC	0.423																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							116.0	109.0	111.0					2																	89160397		1856	4097	5953			0							g.chr2:89160397C>A	J00242		2p11.2	2012-10-05			ENSG00000211593	ENSG00000211593		"""Immunoglobulins / IGK locus"""	5723	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151676		2.37:g.89160397C>A						uc002sti.1_5'Flank|uc002stj.1_Intron								239		-									RNA	SNP	ENST00000390238.2	37	c.9393G>T																																																																																					PASS	0.423	IGKJ5-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000323474.1	NG_000834		103	37	103	37	---	---	---	---
LMAN2L	81562	broad.mit.edu	37	2	97370014	97370014	+	IGR	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:97370014G>T	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.W1991L(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TATATTTTCTGGAAACGCTAT	0.473																																						uc010fia.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5971-5973)TGG>TTG		fer-1-like 5 isoform 2							96.0	98.0	97.0					2																	97370014		1925	4147	6072	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97370014G>T	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97370014G>T						FER1L5_uc002sws.3_Missense_Mutation_p.W700L|FER1L5_uc002swt.3_Missense_Mutation_p.W700L|FER1L5_uc010yus.1_Missense_Mutation_p.W699L	p.W1991L	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			51	5972	+			1991					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.5972G>T	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	6.350	0.432724	0.12045	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.33	4.46	0.54185	.	0.164332	0.29273	U	0.012628	T	0.57829	0.2080	M	0.83774	2.66	.	.	.	B;P;P	0.43857	0.437;0.819;0.617	B;B;B	0.43225	0.14;0.412;0.242	T	0.73895	-0.3838	8	0.87932	D	0	-13.5907	9.7324	0.40370	0.0951:0.0:0.9049:0.0	.	699;1991;700	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	L	1991;1995;700	.	ENSP00000442027:W700L	W	+	2	0	FER1L5	96733741	1.000000	0.71417	0.978000	0.43139	0.133000	0.20885	4.251000	0.58778	1.255000	0.44051	0.650000	0.86243	TGG		PASS	0.473	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		7	147	7	147	---	---	---	---
CNNM4	26504	broad.mit.edu	37	2	97427870	97427870	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:97427870C>A	ENST00000377075.2	+	1	1232	c.1134C>A	c.(1132-1134)acC>acA	p.T378T		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	378	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.T378T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ATATCATGACCCAGCTCCAGG	0.522																																						uc002swx.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(1132-1134)ACC>ACA		cyclin M4							89.0	77.0	81.0					2																	97427870		2203	4300	6503	SO:0001819	synonymous_variant	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427870C>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1134C>A	2.37:g.97427870C>A							p.T378T	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN			1	1232	+			378			CBS 1.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	ENST00000377075.2	37	c.1134C>A	CCDS2024.2																																																																																				PASS	0.522	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		5	60	5	60	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102314986	102314986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:102314986G>T	ENST00000347699.4	+	2	109	c.109G>T	c.(109-111)Gga>Tga	p.G37*	MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.G37*|MAP4K4_ENST00000456652.1_Nonsense_Mutation_p.G37*|MAP4K4_ENST00000302217.5_Nonsense_Mutation_p.G37*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.G37*|MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.G37*|MAP4K4_ENST00000413150.2_Nonsense_Mutation_p.G37*	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G37*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGGCACCTATGGACAAGTCTA	0.488																																						uc002tbg.2																			1	Substitution - Nonsense(1)		lung(1)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(109-111)GGA>TGA		mitogen-activated protein kinase kinase kinase							244.0	239.0	241.0					2																	102314986		1881	4108	5989	SO:0001587	stop_gained	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102314986G>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.109G>T	2.37:g.102314986G>T	ENSP00000314363:p.Gly37*					MAP4K4_uc002tbc.2_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbd.2_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbe.2_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbf.2_Nonsense_Mutation_p.G37*|MAP4K4_uc010yvy.1_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbh.2_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbi.2_Nonsense_Mutation_p.G37*	p.G37*	NM_145687	NP_663720	O95819	M4K4_HUMAN			2	164	+			37			Protein kinase.|ATP (By similarity).		O75172|Q9NST7	Nonsense_Mutation	SNP	ENST00000347699.4	37	c.109G>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	39	7.421856	0.98275	.	.	ENSG00000071054	ENST00000427603;ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699	.	.	.	4.26	4.26	0.50523	.	0.000000	0.51477	U	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2939	0.82762	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000303600:G37X	G	+	1	0	MAP4K4	101681418	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.115000	0.94336	1.895000	0.54865	0.591000	0.81541	GGA		PASS	0.488	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		12	492	12	492	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109379712	109379712	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:109379712A>G	ENST00000283195.6	+	20	2843	c.2717A>G	c.(2716-2718)aAt>aGt	p.N906S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	906					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N906S(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TATGGCATGAATAGGCTTCCA	0.408																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(2716-2718)AAT>AGT		RAN binding protein 2							75.0	71.0	72.0					2																	109379712		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109379712A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2717A>G	2.37:g.109379712A>G	ENSP00000283195:p.Asn906Ser						p.N906S	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	2843	+			906					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2717A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540258	0.45176	.	.	ENSG00000153201	ENST00000283195	T	0.28069	1.63	5.08	5.08	0.68730	.	.	.	.	.	T	0.44871	0.1314	L	0.34521	1.04	0.40999	D	0.984917	D	0.76494	0.999	D	0.78314	0.991	T	0.45600	-0.9250	9	0.59425	D	0.04	-33.1137	15.1378	0.72583	1.0:0.0:0.0:0.0	.	906	P49792	RBP2_HUMAN	S	906	ENSP00000283195:N906S	ENSP00000283195:N906S	N	+	2	0	RANBP2	108746144	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.910000	0.92685	2.031000	0.59945	0.460000	0.39030	AAT		PASS	0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		33	51	33	51	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128767876	128767876	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:128767876G>A	ENST00000259235.3	-	7	1043	c.914C>T	c.(913-915)aCg>aTg	p.T305M	SAP130_ENST00000357702.5_Missense_Mutation_p.T305M|SAP130_ENST00000259234.6_Missense_Mutation_p.T279M	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	305					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.T305M(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGCCGCTGTCGTAGTGATGAC	0.512																																						uc002tpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(913-915)ACG>ATG		Sin3A-associated protein, 130kDa isoform b							129.0	111.0	117.0					2																	128767876		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128767876G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.914C>T	2.37:g.128767876G>A	ENSP00000259235:p.Thr305Met					SAP130_uc002tpn.2_Missense_Mutation_p.T66M|SAP130_uc002tpo.2_Missense_Mutation_p.T50M|SAP130_uc010fmd.2_Missense_Mutation_p.T305M|SAP130_uc002tpq.1_Missense_Mutation_p.T279M	p.T305M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	7	1046	-	Colorectal(110;0.1)		305					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.914C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967543	0.74131	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	5.56	0.83823	.	0.047860	0.85682	D	0.000000	T	0.67258	0.2874	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.966;0.966	T	0.68424	-0.5412	9	0.51188	T	0.08	-21.6007	19.5311	0.95230	0.0:0.0:1.0:0.0	.	305;279;305	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	M	305;305;279	.	ENSP00000259234:T279M	T	-	2	0	SAP130	128484346	1.000000	0.71417	0.924000	0.36721	0.838000	0.47535	7.365000	0.79537	2.635000	0.89317	0.467000	0.42956	ACG		PASS	0.512	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		47	7	47	7	---	---	---	---
TUBA3D	113457	broad.mit.edu	37	2	132237812	132237812	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:132237812G>T	ENST00000321253.6	+	4	653	c.546G>T	c.(544-546)gtG>gtT	p.V182V	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	182					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V182V(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGCCGTGGTGGAGCCCTACA	0.552																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(544-546)GTG>GTT		tubulin, alpha 3d							141.0	156.0	151.0					2																	132237812		2202	4299	6501	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237812G>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.546G>T	2.37:g.132237812G>T							p.V182V	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	653	+			182					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.546G>T	CCDS33290.1																																																																																				PASS	0.552	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		6	128	6	128	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107064	168107064	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:168107064C>A	ENST00000409195.1	+	9	9251	c.9162C>A	c.(9160-9162)tcC>tcA	p.S3054S	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S3054S|XIRP2_ENST00000409273.1_Silent_p.S2832S|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2879					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S3054S(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACATCATCCAAAGTATCTA	0.353																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9160-9162)TCC>TCA		xin actin-binding repeat containing 2 isoform 1							99.0	93.0	95.0					2																	168107064		1830	4082	5912	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107064C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9162C>A	2.37:g.168107064C>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S2879S|XIRP2_uc010fpq.2_Silent_p.S2832S|XIRP2_uc010fpr.2_Intron	p.S3054S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9180	+			2879					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.9162C>A	CCDS42769.1																																																																																				PASS	0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	133	6	133	---	---	---	---
HOXD10	3236	broad.mit.edu	37	2	176983941	176983941	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:176983941C>A	ENST00000249501.4	+	2	1260	c.1005C>A	c.(1003-1005)gcC>gcA	p.A335A	HOXD10_ENST00000490088.2_3'UTR|HOXD-AS2_ENST00000440016.2_RNA	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	335					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A335A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AACTGACCGCCAACCTCACGT	0.582																																						uc002ukj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1003-1005)GCC>GCA		homeobox D10							33.0	35.0	34.0					2																	176983941		2203	4299	6502	SO:0001819	synonymous_variant	3236					nucleus	sequence-specific DNA binding	g.chr2:176983941C>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.1005C>A	2.37:g.176983941C>A							p.A335A	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	2	1075	+			335					Q6NT10	Silent	SNP	ENST00000249501.4	37	c.1005C>A	CCDS2266.1																																																																																				PASS	0.582	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			5	82	5	82	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		15	Substitution - Missense(15)		lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)	central_nervous_system(1)	1						c.(85-87)GAT>CAT		nuclear factor erythroid 2-like 2 isoform 1							66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098960C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H	p.D29H	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	640	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.85G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		PASS	0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		39	5	39	5	---	---	---	---
TTC30B	150737	broad.mit.edu	37	2	178415699	178415699	+	Nonsense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:178415699G>C	ENST00000408939.3	-	1	2043	c.1793C>G	c.(1792-1794)tCa>tGa	p.S598*		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	598					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.S598*(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TGTGTGTTTTGACATGTTTTC	0.388																																						uc002uln.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1792-1794)TCA>TGA		tetratricopeptide repeat domain 30B							174.0	174.0	174.0					2																	178415699		2203	4300	6503	SO:0001587	stop_gained	150737				cell projection organization	cilium	binding	g.chr2:178415699G>C	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1793C>G	2.37:g.178415699G>C	ENSP00000386181:p.Ser598*					TTC30B_uc010zfc.1_Nonsense_Mutation_p.S370*	p.S598*	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1826	-			598					Q63HQ1|Q96NE6	Nonsense_Mutation	SNP	ENST00000408939.3	37	c.1793C>G	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	37	6.347191	0.97494	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	.	.	.	4.7	4.7	0.59300	.	0.170527	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6689	0.68929	0.0:0.1458:0.8541:0.0	.	.	.	.	X	551;598	.	ENSP00000386181:S598X	S	-	2	0	TTC30B	178123945	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.262000	0.78410	2.567000	0.86603	0.655000	0.94253	TCA		PASS	0.388	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		7	165	7	165	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197157413	197157413	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:197157413C>A	ENST00000260983.3	-	14	3058	c.2876G>T	c.(2875-2877)aGg>aTg	p.R959M	RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.R603M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	959	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R959M(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGGGTGTCCCTCCGGACTTT	0.493																																						uc002utm.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(2875-2877)AGG>ATG		HECT, C2 and WW domain containing E3 ubiquitin							142.0	113.0	123.0					2																	197157413		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197157413C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2876G>T	2.37:g.197157413C>A	ENSP00000260983:p.Arg959Met					HECW2_uc002utl.1_Missense_Mutation_p.R603M	p.R959M	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			14	3059	-			959			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2876G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698055	0.88830	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85702	-2.02;-2.02	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.72894	2.215	0.80722	D	1	P	0.48503	0.911	P	0.48901	0.594	D	0.90153	0.4222	10	0.87932	D	0	.	18.5859	0.91189	0.0:1.0:0.0:0.0	.	959	Q9P2P5	HECW2_HUMAN	M	603;959	ENSP00000386775:R603M;ENSP00000260983:R959M	ENSP00000260983:R959M	R	-	2	0	HECW2	196865658	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.594000	0.67557	2.617000	0.88574	0.655000	0.94253	AGG		PASS	0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		51	4	51	4	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198949015	198949015	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:198949015T>C	ENST00000428675.1	+	2	1172	c.774T>C	c.(772-774)atT>atC	p.I258I	PLCL1_ENST00000437704.2_Silent_p.I160I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	258					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.I160I(1)|p.I258I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGAATGGGATTATGTTGGAAG	0.423																																						uc010fsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(772-774)ATT>ATC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						149.0	153.0	152.0					2																	198949015		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949015T>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.774T>C	2.37:g.198949015T>C						PLCL1_uc002uuv.3_Silent_p.I179I	p.I258I	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1065	+			258					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.774T>C	CCDS2326.2																																																																																				PASS	0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		15	114	15	114	---	---	---	---
INHA	3623	broad.mit.edu	37	2	220439980	220439980	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:220439980G>T	ENST00000243786.2	+	2	1013	c.833G>T	c.(832-834)cGg>cTg	p.R278L		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	278					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.R278L(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCTGGGAACGGTGGATCGTG	0.612																																						uc002vmk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)CGG>CTG		inhibin alpha subunit precursor							149.0	147.0	148.0					2																	220439980		2203	4300	6503	SO:0001583	missense	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439980G>T		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.833G>T	2.37:g.220439980G>T	ENSP00000243786:p.Arg278Leu						p.R278L	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	977	+		Renal(207;0.0183)	278					A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	c.833G>T	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572216	0.45798	.	.	ENSG00000123999	ENST00000243786	D	0.89050	-2.46	5.48	-2.21	0.06973	Transforming growth factor-beta, C-terminal (3);	0.934285	0.09069	N	0.853147	D	0.85856	0.5794	L	0.60455	1.87	0.19300	N	0.999972	P	0.38473	0.633	B	0.38378	0.272	T	0.74500	-0.3645	9	.	.	.	-5.1886	12.576	0.56363	0.7403:0.0:0.2597:0.0	.	278	P05111	INHA_HUMAN	L	278	ENSP00000243786:R278L	.	R	+	2	0	INHA	220148224	0.912000	0.30974	0.003000	0.11579	0.992000	0.81027	0.977000	0.29475	-0.321000	0.08627	0.561000	0.74099	CGG		PASS	0.612	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			49	6	49	6	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228148491	228148491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr2:228148491G>T	ENST00000396578.3	+	33	2827	c.2665G>T	c.(2665-2667)Gga>Tga	p.G889*	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	889	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.G889*(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGTGAAGATGGAGTGATTGG	0.458																																						uc002vom.1																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2665-2667)GGA>TGA		alpha 3 type IV collagen isoform 1 precursor							110.0	114.0	113.0					2																	228148491		1868	4104	5972	SO:0001587	stop_gained	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228148491G>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2665G>T	2.37:g.228148491G>T	ENSP00000379823:p.Gly889*					COL4A3_uc002von.1_Nonsense_Mutation_p.G889*|COL4A3_uc002voo.1_Nonsense_Mutation_p.G889*|COL4A3_uc002vop.1_Nonsense_Mutation_p.G889*|uc002voq.1_Intron|uc002vor.1_Intron	p.G889*	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	33	2827	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	889			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Nonsense_Mutation	SNP	ENST00000396578.3	37	c.2665G>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	41	8.599318	0.98879	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	.	.	.	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6488	0.85183	0.0:0.0:1.0:0.0	.	.	.	.	X	889	.	ENSP00000323334:G889X	G	+	1	0	COL4A3	227856735	1.000000	0.71417	0.237000	0.24090	0.003000	0.03518	5.955000	0.70306	2.746000	0.94184	0.655000	0.94253	GGA		PASS	0.458	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		5	71	5	71	---	---	---	---
BTD	686	broad.mit.edu	37	3	15677003	15677003	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:15677003C>T	ENST00000303498.5	+	2	226	c.117C>T	c.(115-117)gcC>gcT	p.A39A	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000437172.1_Silent_p.A41A|BTD_ENST00000383778.4_Silent_p.A19A|BTD_ENST00000449107.1_Silent_p.A41A	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	39					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)	p.A39A(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACGTGGTTGCCCTGGGAGCCC	0.537																																						uc003cah.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(115-117)GCC>GCT		biotinidase precursor							157.0	148.0	151.0					3																	15677003		2203	4300	6503	SO:0001819	synonymous_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15677003C>T	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.117C>T	3.37:g.15677003C>T						BTD_uc011avv.1_Silent_p.A41A|BTD_uc011avw.1_Silent_p.A41A|BTD_uc011avx.1_Silent_p.A19A	p.A39A	NM_000060	NP_000051	P43251	BTD_HUMAN			2	220	+			39					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Silent	SNP	ENST00000303498.5	37	c.117C>T	CCDS2628.1																																																																																				PASS	0.537	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		6	59	6	59	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19554758	19554758	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:19554758G>T	ENST00000328405.2	+	13	2642	c.2376G>T	c.(2374-2376)aaG>aaT	p.K792N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	792					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.K792N(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGAAAGAGAAGAACTTGAAAT	0.448																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(2374-2376)AAG>AAT		potassium voltage-gated channel, subfamily H,							90.0	95.0	94.0					3																	19554758		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19554758G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2376G>T	3.37:g.19554758G>T	ENSP00000328813:p.Lys792Asn					KCNH8_uc010hex.1_Missense_Mutation_p.K253N	p.K792N	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			13	2571	+			792			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2376G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023847	0.35701	.	.	ENSG00000183960	ENST00000328405	D	0.98835	-5.17	5.98	2.77	0.32553	.	0.000000	0.32563	U	0.005936	D	0.95909	0.8668	L	0.46157	1.445	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	D	0.91956	0.5575	9	.	.	.	.	7.1778	0.25755	0.4001:0.0:0.5999:0.0	.	792	Q96L42	KCNH8_HUMAN	N	792	ENSP00000328813:K792N	.	K	+	3	2	KCNH8	19529762	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.666000	0.37460	0.809000	0.34255	0.650000	0.86243	AAG		PASS	0.448	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		19	28	19	28	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49692819	49692819	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:49692819C>T	ENST00000296452.4	+	5	5944	c.5830C>T	c.(5830-5832)Ccc>Tcc	p.P1944S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1944					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.P1944S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTCTATGGTCCCCGGGACCC	0.687																																						uc003cxe.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(5830-5832)CCC>TCC		bassoon protein							27.0	29.0	28.0					3																	49692819		2203	4299	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692819C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5830C>T	3.37:g.49692819C>T	ENSP00000296452:p.Pro1944Ser						p.P1944S	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	5944	+			1944					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.5830C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	4.484	0.089718	0.08632	.	.	ENSG00000164061	ENST00000296452	T	0.15952	2.38	5.43	1.32	0.21799	.	0.478554	0.23424	N	0.048331	T	0.07413	0.0187	N	0.16478	0.41	0.26382	N	0.976727	B	0.02656	0.0	B	0.04013	0.001	T	0.38308	-0.9667	10	0.09338	T	0.73	-2.7431	5.9543	0.19265	0.1917:0.57:0.0:0.2383	.	1944	Q9UPA5	BSN_HUMAN	S	1944	ENSP00000296452:P1944S	ENSP00000296452:P1944S	P	+	1	0	BSN	49667823	0.003000	0.15002	0.826000	0.32828	0.596000	0.36781	0.733000	0.26087	0.679000	0.31345	0.561000	0.74099	CCC		PASS	0.687	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		7	12	7	12	---	---	---	---
SLMAP	7871	broad.mit.edu	37	3	57908716	57908716	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:57908716A>G	ENST00000428312.1	+	21	2454	c.2360A>G	c.(2359-2361)aAc>aGc	p.N787S	SLMAP_ENST00000442599.2_Missense_Mutation_p.N255S|SLMAP_ENST00000295952.3_Missense_Mutation_p.N770S|SLMAP_ENST00000494088.1_Missense_Mutation_p.N280S|SLMAP_ENST00000495364.1_Missense_Mutation_p.N321S|SLMAP_ENST00000295951.3_Missense_Mutation_p.N770S|SLMAP_ENST00000449503.2_Missense_Mutation_p.N749S			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	787					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.N770S(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CAGTGTAAAAACAACCTGAAG	0.383																																						uc003dje.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2359-2361)AAC>AGC		sarcolemma associated protein							111.0	103.0	106.0					3																	57908716		2203	4300	6503	SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57908716A>G	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.2360A>G	3.37:g.57908716A>G	ENSP00000398661:p.Asn787Ser					SLMAP_uc003djd.1_Missense_Mutation_p.N770S|SLMAP_uc003djf.1_Missense_Mutation_p.N749S|SLMAP_uc003djg.1_Missense_Mutation_p.N381S|SLMAP_uc011bez.1_Missense_Mutation_p.N255S|SLMAP_uc011bfa.1_Missense_Mutation_p.N321S|SLMAP_uc003dji.1_Missense_Mutation_p.N321S|SLMAP_uc011bfb.1_Missense_Mutation_p.N321S|SLMAP_uc011bfc.1_Missense_Mutation_p.N280S	p.N787S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	21	2565	+			787			Cytoplasmic (Potential).|Potential.		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.2360A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.42|12.42	1.933973|1.933973	0.34096|0.34096	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088|ENST00000417128	T;T;T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92;0.92;0.92|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.382989|.	0.34314|.	N|.	0.004068|.	T|T	0.33644|0.33644	0.0870|0.0870	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B|.	0.20052|.	0.002;0.014;0.013;0.014;0.0;0.0;0.041|.	B;B;B;B;B;B;B|.	0.22386|.	0.009;0.021;0.029;0.039;0.001;0.001;0.029|.	T|T	0.38045|0.38045	-0.9679|-0.9679	10|5	0.12766|.	T|.	0.61|.	-6.6116|-6.6116	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	280;255;321;381;749;787;770|.	B7Z863;C9JPE6;Q14BN4-5;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3|.	.;.;.;.;.;SLMAP_HUMAN;.|.	S|A	770;770;787;749;381;255;321;280|371	ENSP00000295951:N770S;ENSP00000295952:N770S;ENSP00000398661:N787S;ENSP00000412945:N749S;ENSP00000388978:N255S;ENSP00000419543:N321S;ENSP00000418218:N280S|.	ENSP00000295951:N770S|.	N|T	+|+	2|1	0|0	SLMAP|SLMAP	57883756|57883756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.049000|2.049000	0.41288|0.41288	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAC|ACA		PASS	0.383	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		49	13	49	13	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58089694	58089694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:58089694G>T	ENST00000295956.4	+	10	1657	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*	FLNB_ENST00000358537.3_Nonsense_Mutation_p.E498*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.E498*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.E498*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.E498*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.E329*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.E498*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.E329*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	498					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E498*(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAGGGTCTGGAGGAGCTGGT	0.517																																						uc003djj.2																			2	Substitution - Nonsense(2)		lung(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(1492-1494)GAG>TAG		filamin B isoform 2							93.0	96.0	95.0					3																	58089694		2203	4300	6503	SO:0001587	stop_gained	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58089694G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1492G>T	3.37:g.58089694G>T	ENSP00000295956:p.Glu498*					FLNB_uc010hne.2_Nonsense_Mutation_p.E498*|FLNB_uc003djk.2_Nonsense_Mutation_p.E498*|FLNB_uc010hnf.2_Nonsense_Mutation_p.E498*|FLNB_uc003djl.2_Nonsense_Mutation_p.E329*|FLNB_uc003djm.2_Nonsense_Mutation_p.E329*	p.E498*	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	10	1657	+			498			Filamin 3.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	37	c.1492G>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	42	9.196559	0.99096	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.17	6.17	0.99709	.	0.044539	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	498;498;498;498;498;498;329;329	.	ENSP00000295956:E498X	E	+	1	0	FLNB	58064734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.832000	0.99423	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.517	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		5	47	5	47	---	---	---	---
MINA	84864	broad.mit.edu	37	3	97664061	97664061	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:97664061G>T	ENST00000333396.7	-	10	1947	c.1365C>A	c.(1363-1365)tcC>tcA	p.S455S	MINA_ENST00000394198.2_Silent_p.S455S|MINA_ENST00000360258.4_Silent_p.S454S	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen									p.S454S(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CTGTCCAGAGGGATAATACCA	0.373																																						uc003drz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1363-1365)TCC>TCA		MYC induced nuclear antigen isoform a							134.0	141.0	139.0					3																	97664061		2203	4300	6503	SO:0001819	synonymous_variant	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97664061G>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1365C>A	3.37:g.97664061G>T						MINA_uc003dry.1_Silent_p.S126S|MINA_uc003dsa.1_Silent_p.S454S|MINA_uc003dsb.1_Silent_p.S455S|MINA_uc003dsc.1_Silent_p.S454S	p.S455S	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN			10	1871	-			455						Silent	SNP	ENST00000333396.7	37	c.1365C>A	CCDS43114.1																																																																																				PASS	0.373	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		12	176	12	176	---	---	---	---
TMEM45A	55076	broad.mit.edu	37	3	100295772	100295772	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:100295772G>T	ENST00000323523.4	+	6	1051	c.738G>T	c.(736-738)ttG>ttT	p.L246F	TMEM45A_ENST00000403410.1_Missense_Mutation_p.L262F	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	246						integral component of membrane (GO:0016021)		p.L246F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TCCTCAGGTTGGTTAAATCTA	0.383																																						uc003dtz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(736-738)TTG>TTT		transmembrane protein 45A							103.0	108.0	107.0					3																	100295772		2203	4300	6503	SO:0001583	missense	55076					integral to membrane		g.chr3:100295772G>T	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.738G>T	3.37:g.100295772G>T	ENSP00000319009:p.Leu246Phe					TMEM45A_uc003dua.1_Missense_Mutation_p.L262F|TMEM45A_uc003dub.1_RNA	p.L246F	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN			6	1051	+			246					Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	c.738G>T	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305452	0.23736	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.33654	1.4;1.4	5.71	1.79	0.24919	.	0.422043	0.23014	N	0.052940	T	0.24851	0.0603	L	0.50333	1.59	0.30467	N	0.773733	B	0.13145	0.007	B	0.09377	0.004	T	0.14615	-1.0466	10	0.19590	T	0.45	-11.8211	4.0114	0.09624	0.3201:0.0:0.5088:0.1711	.	246	Q9NWC5	TM45A_HUMAN	F	246;262	ENSP00000319009:L246F;ENSP00000385089:L262F	ENSP00000319009:L246F	L	+	3	2	TMEM45A	101778462	0.999000	0.42202	1.000000	0.80357	0.949000	0.60115	0.394000	0.20834	0.482000	0.27582	0.655000	0.94253	TTG		PASS	0.383	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		6	87	6	87	---	---	---	---
CEP97	79598	broad.mit.edu	37	3	101476034	101476034	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:101476034G>A	ENST00000341893.3	+	8	1773	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CEP97_ENST00000327230.4_Missense_Mutation_p.E341K|CEP97_ENST00000494050.1_Missense_Mutation_p.E341K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	341	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.E341K(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATATCCCAGGAAAGTGGTAA	0.378																																						uc003dvk.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1021-1023)GAA>AAA		centrosomal protein 97kDa							100.0	99.0	99.0					3																	101476034		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101476034G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1021G>A	3.37:g.101476034G>A	ENSP00000342510:p.Glu341Lys					CEP97_uc010hpm.1_Missense_Mutation_p.E307K|CEP97_uc011bhf.1_Missense_Mutation_p.E341K|CEP97_uc003dvl.1_Missense_Mutation_p.E37K|CEP97_uc003dvm.1_Missense_Mutation_p.E179K	p.E341K	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			8	1048	+			341			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1021G>A	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406995	0.83230	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.52295	0.68;0.67;0.73	4.89	4.89	0.63831	.	0.131532	0.49916	D	0.000122	T	0.55924	0.1951	M	0.61703	1.905	0.40250	D	0.978053	P;P;P	0.50443	0.935;0.89;0.7	B;P;B	0.49192	0.319;0.602;0.261	T	0.60875	-0.7176	10	0.46703	T	0.11	-13.7075	17.653	0.88170	0.0:0.0:1.0:0.0	.	341;341;341	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	K	341	ENSP00000342510:E341K;ENSP00000325881:E341K;ENSP00000418185:E341K	ENSP00000325881:E341K	E	+	1	0	CEP97	102958724	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.652000	0.54439	2.234000	0.73211	0.313000	0.20887	GAA		PASS	0.378	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		5	93	5	93	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108175659	108175659	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:108175659G>T	ENST00000273353.3	-	20	2208	c.2152C>A	c.(2152-2154)Cgt>Agt	p.R718S	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	718	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R718S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAACCTTCACGGCATATCCTA	0.433																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(2152-2154)CGT>AGT		myosin, heavy polypeptide 15							159.0	148.0	151.0					3																	108175659		1851	4097	5948	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108175659G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2152C>A	3.37:g.108175659G>T	ENSP00000273353:p.Arg718Ser						p.R718S	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			20	2209	-			718			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2152C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461616	0.43736	.	.	ENSG00000144821	ENST00000273353	T	0.74315	-0.83	5.97	-11.9	0.00025	Myosin head, motor domain (2);	.	.	.	.	D	0.85128	0.5626	M	0.92649	3.33	0.19300	N	0.999975	D	0.60160	0.987	D	0.67382	0.951	D	0.86281	0.1667	9	0.87932	D	0	.	13.5615	0.61793	0.1105:0.0:0.581:0.3084	.	718	Q9Y2K3	MYH15_HUMAN	S	718	ENSP00000273353:R718S	ENSP00000273353:R718S	R	-	1	0	MYH15	109658349	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.986000	0.03747	-2.444000	0.00548	-0.469000	0.05056	CGT		PASS	0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		60	121	60	121	---	---	---	---
BOC	91653	broad.mit.edu	37	3	112993496	112993496	+	Silent	SNP	G	G	C	rs139797362		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:112993496G>C	ENST00000495514.1	+	9	2213	c.1509G>C	c.(1507-1509)gcG>gcC	p.A503A	BOC_ENST00000273395.4_Silent_p.A503A|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Silent_p.A503A			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	503	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.A503A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GTGGCCGGGCGCCAATCCTCT	0.632																																						uc003dzx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(1507-1509)GCG>GCC		brother of CDO precursor							39.0	42.0	41.0					3																	112993496		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993496G>C	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1509G>C	3.37:g.112993496G>C						BOC_uc003dzy.2_Silent_p.A503A|BOC_uc003dzz.2_Silent_p.A503A|BOC_uc003eab.2_Silent_p.A204A	p.A503A	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	2130	+			503			Fibronectin type-III 1.|Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.1509G>C	CCDS2971.1																																																																																				PASS	0.632	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		8	28	8	28	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113858465	113858465	+	Missense_Mutation	SNP	C	C	A	rs554652669		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:113858465C>A	ENST00000460779.1	-	6	894	c.605G>T	c.(604-606)gGa>gTa	p.G202V	DRD3_ENST00000467632.1_Missense_Mutation_p.G202V|DRD3_ENST00000295881.7_Missense_Mutation_p.G202V|DRD3_ENST00000383673.2_Missense_Mutation_p.G202V	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	202					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.G202V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GACAGTCACTCCAAAGGGCAG	0.512																																						uc003ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(604-606)GGA>GTA		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						181.0	168.0	173.0					3																	113858465		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113858465C>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.605G>T	3.37:g.113858465C>A	ENSP00000419402:p.Gly202Val					DRD3_uc010hqn.1_Missense_Mutation_p.G202V|DRD3_uc003ebb.1_Missense_Mutation_p.G202V|DRD3_uc003ebc.1_Missense_Mutation_p.G202V	p.G202V	NM_000796	NP_000787	P35462	DRD3_HUMAN			6	1028	-			202			Helical; Name=5.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.605G>T	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	6.359	0.434373	0.12045	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.12	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.349259	0.31721	N	0.007176	T	0.13543	0.0328	N	0.01529	-0.815	0.58432	D	0.999997	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.06092	-1.0846	10	0.26408	T	0.33	.	10.7319	0.46102	0.4977:0.5022:0.0:0.0	.	202;202;202;202	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	V	202	ENSP00000419402:G202V;ENSP00000420662:G202V;ENSP00000373169:G202V;ENSP00000295881:G202V	ENSP00000281274:G202V	G	-	2	0	DRD3	115341155	0.995000	0.38212	1.000000	0.80357	0.650000	0.38633	3.464000	0.53057	1.341000	0.45600	0.655000	0.94253	GGA		PASS	0.512	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		62	147	62	147	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121410336	121410336	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:121410336G>T	ENST00000340645.5	-	14	7985	c.7860C>A	c.(7858-7860)gcC>gcA	p.A2620A	GOLGB1_ENST00000393667.3_Silent_p.A2625A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2620					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A2620A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTCTTGCAAGGCTGTTACTT	0.378																																						uc003eei.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(7858-7860)GCC>GCA		golgi autoantigen, golgin subfamily b,							95.0	97.0	96.0					3																	121410336		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410336G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7860C>A	3.37:g.121410336G>T						GOLGB1_uc010hrc.2_Silent_p.A2625A|GOLGB1_uc003eej.3_Silent_p.A2586A	p.A2620A	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7986	-			2620			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.7860C>A	CCDS3004.1																																																																																				PASS	0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		7	106	7	106	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121417435	121417435	+	Silent	SNP	C	C	A	rs112783488	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:121417435C>A	ENST00000340645.5	-	13	2045	c.1920G>T	c.(1918-1920)gcG>gcT	p.A640A	GOLGB1_ENST00000393667.3_Silent_p.A645A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	640					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A640A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTCAGTGCTCGCCTGTTCTT	0.373																																						uc003eei.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(1918-1920)GCG>GCT		golgi autoantigen, golgin subfamily b,							105.0	105.0	105.0					3																	121417435		2203	4299	6502	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417435C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1920G>T	3.37:g.121417435C>A						GOLGB1_uc010hrc.2_Silent_p.A645A|GOLGB1_uc003eej.3_Silent_p.A606A|GOLGB1_uc011bjm.1_Silent_p.A526A|GOLGB1_uc010hrd.1_Silent_p.A604A	p.A640A	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2046	-			640			Cytoplasmic (Potential).		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.1920G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.595205	0.00857	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.35	0.0433	0.14221	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	4.5316	0.12008	0.1863:0.1958:0.0:0.6179	.	.	.	.	L	511	.	.	R	-	2	0	GOLGB1	122900125	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.358000	0.07641	-0.119000	0.11830	0.655000	0.94253	CGA		PASS	0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		6	102	6	102	---	---	---	---
CD86	942	broad.mit.edu	37	3	121825266	121825266	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:121825266C>A	ENST00000330540.2	+	4	738	c.622C>A	c.(622-624)Cct>Act	p.P208T	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.P202T|CD86_ENST00000493101.1_Missense_Mutation_p.P96T|CD86_ENST00000469710.1_Missense_Mutation_p.P126T	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	208	Ig-like C2-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.P208T(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGTTTCATTCCCTGATGTTAC	0.393																																					GBM(67;1379 1389 36064 39806)	uc003eet.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(622-624)CCT>ACT		CD86 antigen isoform 1	Abatacept(DB01281)						206.0	184.0	191.0					3																	121825266		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121825266C>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.622C>A	3.37:g.121825266C>A	ENSP00000332049:p.Pro208Thr					CD86_uc011bjo.1_Missense_Mutation_p.P126T|CD86_uc011bjp.1_Missense_Mutation_p.P96T|CD86_uc003eeu.2_Missense_Mutation_p.P202T	p.P208T	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	738	+			208			Ig-like C2-type.|Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.622C>A	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.770352|2.770352	0.49680|0.49680	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000478741|ENST00000469710;ENST00000493101;ENST00000330540;ENST00000393627	.|T;T;T;T	.|0.17691	.|3.23;2.26;4.46;4.47	5.13|5.13	-3.72|-3.72	0.04411|0.04411	.|.	1.217210|1.217210	0.05657|0.05657	N|N	0.586216|0.586216	T|T	0.30417|0.30417	0.0764|0.0764	M|M	0.76002|0.76002	2.32|2.32	0.09310|0.09310	N|N	1|1	.|B;D	.|0.59357	.|0.426;0.985	.|B;P	.|0.60117	.|0.199;0.869	T|T	0.39742|0.39742	-0.9599|-0.9599	6|10	.|0.62326	.|D	.|0.03	-0.2198|-0.2198	2.1852|2.1852	0.03885|0.03885	0.1337:0.2508:0.1312:0.4844|0.1337:0.2508:0.1312:0.4844	.|.	.|96;208	.|E9PC27;P42081	.|.;CD86_HUMAN	H|T	203|126;96;208;202	.|ENSP00000418988:P126T;ENSP00000420230:P96T;ENSP00000332049:P208T;ENSP00000377248:P202T	.|ENSP00000332049:P208T	P|P	+|+	2|1	0|0	CD86|CD86	123307956|123307956	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.065000|0.065000	0.14466|0.14466	-0.324000|-0.324000	0.08589|0.08589	-0.150000|-0.150000	0.13652|0.13652	CCC|CCT		PASS	0.393	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		9	220	9	220	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127337913	127337913	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:127337913A>T	ENST00000265056.7	+	13	2301	c.2057A>T	c.(2056-2058)cAc>cTc	p.H686L	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	686					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.H686L(1)		ovary(3)|skin(2)|stomach(1)	6						CACGTCAGACACCACCCCAGC	0.647																																						uc003ejp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2056-2058)CAC>CTC		minichromosome maintenance complex component 2							31.0	30.0	30.0					3																	127337913		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127337913A>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2057A>T	3.37:g.127337913A>T	ENSP00000265056:p.His686Leu					MCM2_uc011bkm.1_Missense_Mutation_p.H556L|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.H639L	p.H686L	NM_004526	NP_004517	P49736	MCM2_HUMAN			13	2114	+			686					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2057A>T	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.387336|4.387336	0.82902|0.82902	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.06142|.	3.34|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68210|0.68210	0.2976|0.2976	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	D;B;B|.	0.76494|.	0.999;0.132;0.394|.	D;B;B|.	0.83275|.	0.996;0.22;0.329|.	T|T	0.66073|0.66073	-0.6014|-0.6014	10|5	0.59425|.	D|.	0.04|.	-46.9177|-46.9177	15.7928|15.7928	0.78380|0.78380	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	736;556;686|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	L|S	686;590;736|618	ENSP00000265056:H686L|.	ENSP00000265056:H686L|.	H|T	+|+	2|1	0|0	MCM2|MCM2	128820603|128820603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.853000|8.853000	0.92222|0.92222	2.132000|2.132000	0.65825|0.65825	0.482000|0.482000	0.46254|0.46254	CAC|ACC		PASS	0.647	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			11	6	11	6	---	---	---	---
EFCAB12	90288	broad.mit.edu	37	3	129130176	129130176	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:129130176C>G	ENST00000505956.1	-	5	1022	c.860G>C	c.(859-861)aGa>aCa	p.R287T	EFCAB12_ENST00000326085.3_Missense_Mutation_p.R287T	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	287							calcium ion binding (GO:0005509)	p.R287T(1)									CAGGGAATCTCTGTGCTTGGC	0.557																																						uc003emg.2																			1	Substitution - Missense(1)		lung(1)								c.(859-861)AGA>ACA		hypothetical protein LOC90288							59.0	59.0	59.0					3																	129130176		2031	4180	6211	SO:0001583	missense	0							g.chr3:129130176C>G	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.860G>C	3.37:g.129130176C>G	ENSP00000420854:p.Arg287Thr						p.R287T	NM_207307	NP_997190					5	1023	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.860G>C	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	8.201	0.798228	0.16397	.	.	ENSG00000172771	ENST00000505956;ENST00000326085;ENST00000503957	T;T;T	0.35973	4.15;4.15;1.28	3.94	2.11	0.27256	.	1.170110	0.06672	N	0.766376	T	0.27313	0.0670	L	0.29908	0.895	0.09310	N	1	B	0.19200	0.034	B	0.19391	0.025	T	0.28299	-1.0048	10	0.35671	T	0.21	0.8902	6.7592	0.23530	0.0:0.776:0.0:0.224	.	287	Q6NXP0	CC025_HUMAN	T	287;287;137	ENSP00000420854:R287T;ENSP00000324241:R287T;ENSP00000421462:R137T	ENSP00000324241:R287T	R	-	2	0	C3orf25	130612866	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.194000	0.09559	0.417000	0.25871	-0.448000	0.05591	AGA		PASS	0.557	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		63	44	63	44	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132169490	132169490	+	Splice_Site	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:132169490G>C	ENST00000260818.6	+	6	584		c.e6-1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.?(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCTGTCTTTAGAGATACAACT	0.318																																						uc003eor.2																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e6-1		DnaJ (Hsp40) homolog, subfamily C, member 13							44.0	46.0	45.0					3																	132169490		2203	4299	6502	SO:0001630	splice_region_variant	23317						heat shock protein binding	g.chr3:132169490G>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.337-1G>C	3.37:g.132169490G>C						DNAJC13_uc010htq.1_Splice_Site_p.R113_splice	p.R113_splice	NM_015268	NP_056083	O75165	DJC13_HUMAN			6	402	+								Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	37	c.337_splice	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316749	0.81469	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133652180	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.593000	0.98250	2.734000	0.93682	0.655000	0.94253	.		PASS	0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	Intron	14	45	14	45	---	---	---	---
A4GNT	51146	broad.mit.edu	37	3	137849890	137849890	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:137849890G>T	ENST00000236709.3	-	2	410	c.209C>A	c.(208-210)tCc>tAc	p.S70Y		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	70					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.S70Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGACTCTACGGAACAGGAGAC	0.527																																						uc003ers.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(208-210)TCC>TAC		alpha-1,4-N-acetylglucosaminyltransferase							102.0	102.0	102.0					3																	137849890		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849890G>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.209C>A	3.37:g.137849890G>T	ENSP00000236709:p.Ser70Tyr						p.S70Y	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			2	411	-			70			Lumenal (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.209C>A	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421126	0.62622	.	.	ENSG00000118017	ENST00000236709	T	0.77358	-1.09	5.42	5.42	0.78866	Glycosyltransferase, DXD sugar-binding motif (1);	0.211356	0.31404	N	0.007701	D	0.83871	0.5348	L	0.55213	1.73	0.25401	N	0.988442	P	0.36110	0.537	P	0.50378	0.639	T	0.78795	-0.2064	10	0.87932	D	0	-2.5753	19.2281	0.93825	0.0:0.0:1.0:0.0	.	70	Q9UNA3	A4GCT_HUMAN	Y	70	ENSP00000236709:S70Y	ENSP00000236709:S70Y	S	-	2	0	A4GNT	139332580	1.000000	0.71417	0.977000	0.42913	0.377000	0.30045	6.778000	0.75043	2.527000	0.85204	0.561000	0.74099	TCC		PASS	0.527	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		7	138	7	138	---	---	---	---
MRAS	22808	broad.mit.edu	37	3	138119441	138119441	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:138119441C>A	ENST00000289104.4	+	5	1160	c.513C>A	c.(511-513)ctC>ctA	p.L171L	MRAS_ENST00000423968.2_Silent_p.L171L|MRAS_ENST00000464896.1_Silent_p.L95L|MRAS_ENST00000474559.1_Silent_p.L171L	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	171					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.L171L(1)		kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCCATGACCTCGTTAGAGTAA	0.542																																						uc003esh.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(511-513)CTC>CTA		muscle RAS oncogene homolog precursor							219.0	189.0	199.0					3																	138119441		2203	4300	6503	SO:0001819	synonymous_variant	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138119441C>A	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.513C>A	3.37:g.138119441C>A						MRAS_uc011bmi.1_Silent_p.L95L|MRAS_uc003esi.3_Silent_p.L171L|MRAS_uc011bmj.1_Silent_p.L95L	p.L171L	NM_012219	NP_036351	O14807	RASM_HUMAN			5	1074	+			171					B4DIK0|Q86WX8	Silent	SNP	ENST00000289104.4	37	c.513C>A	CCDS3100.1																																																																																				PASS	0.542	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			6	239	6	239	---	---	---	---
SI	6476	broad.mit.edu	37	3	164760854	164760854	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:164760854C>G	ENST00000264382.3	-	17	2059	c.1997G>C	c.(1996-1998)gGa>gCa	p.G666A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	666	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G666A(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TACTTCATATCCGTCAGAATT	0.353										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1996-1998)GGA>GCA		sucrase-isomaltase	Acarbose(DB00284)						86.0	87.0	87.0					3																	164760854		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164760854C>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1997G>C	3.37:g.164760854C>G	ENSP00000264382:p.Gly666Ala	HNSCC(35;0.089)					p.G666A	NM_001041	NP_001032	P14410	SUIS_HUMAN			17	2059	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	666			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1997G>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973877	0.34848	.	.	ENSG00000090402	ENST00000264382	D	0.94092	-3.35	5.87	0.715	0.18186	Glycoside hydrolase, superfamily (1);	0.630846	0.16751	N	0.201048	D	0.93145	0.7817	M	0.86420	2.815	0.21527	N	0.999654	B	0.31581	0.329	B	0.40982	0.345	D	0.87496	0.2430	10	0.54805	T	0.06	.	3.5189	0.07735	0.2375:0.5064:0.1181:0.1379	.	666	P14410	SUIS_HUMAN	A	666	ENSP00000264382:G666A	ENSP00000264382:G666A	G	-	2	0	SI	166243548	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.211000	0.09332	0.121000	0.18284	-0.274000	0.10170	GGA		PASS	0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	204	7	204	---	---	---	---
SI	6476	broad.mit.edu	37	3	164793766	164793766	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:164793766G>C	ENST00000264382.3	-	2	97	c.35C>G	c.(34-36)tCt>tGt	p.S12C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	12					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.S12C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GACAATCAGAGAGATTTCCAA	0.274										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(34-36)TCT>TGT		sucrase-isomaltase	Acarbose(DB00284)						64.0	64.0	64.0					3																	164793766		2203	4293	6496	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164793766G>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.35C>G	3.37:g.164793766G>C	ENSP00000264382:p.Ser12Cys	HNSCC(35;0.089)					p.S12C	NM_001041	NP_001032	P14410	SUIS_HUMAN			2	97	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	12			Cytoplasmic.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.35C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784398	0.31593	.	.	ENSG00000090402	ENST00000264382	D	0.89343	-2.5	5.68	1.2	0.21068	.	0.590734	0.18267	N	0.146446	D	0.87920	0.6299	L	0.56769	1.78	0.09310	N	0.999999	P	0.46220	0.874	P	0.49502	0.613	T	0.79222	-0.1892	10	0.49607	T	0.09	.	7.9769	0.30159	0.3887:0.0:0.6113:0.0	.	12	P14410	SUIS_HUMAN	C	12	ENSP00000264382:S12C	ENSP00000264382:S12C	S	-	2	0	SI	166276460	0.007000	0.16637	0.115000	0.21578	0.937000	0.57800	0.671000	0.25172	0.012000	0.14892	0.655000	0.94253	TCT		PASS	0.274	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		112	12	112	12	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907978	164907978	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:164907978C>A	ENST00000475390.1	-	2	1084	c.641G>T	c.(640-642)cGa>cTa	p.R214L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R214L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	214					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R214L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAGCATTCCTCGGTAAAAAAG	0.418										HNSCC(40;0.11)																												uc003fej.3																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|pancreas(1)	10						c.(640-642)CGA>CTA		slit and trk like 3 protein precursor							66.0	69.0	68.0					3																	164907978		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907978C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.641G>T	3.37:g.164907978C>A	ENSP00000420091:p.Arg214Leu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.R214L	p.R214L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1085	-			214			Extracellular (Potential).|LRR 6.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.641G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703535	0.30232	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.51325	0.71;0.71	5.86	5.86	0.93980	.	0.000000	0.32081	N	0.006609	T	0.37293	0.0998	N	0.14661	0.345	0.40322	D	0.978838	B	0.33748	0.423	B	0.41764	0.366	T	0.25882	-1.0119	10	0.25106	T	0.35	-9.3545	13.3861	0.60797	0.0:0.9283:0.0:0.0717	.	214	O94933	SLIK3_HUMAN	L	214	ENSP00000420091:R214L;ENSP00000241274:R214L	ENSP00000241274:R214L	R	-	2	0	SLITRK3	166390672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.007000	0.57093	2.779000	0.95612	0.561000	0.74099	CGA		PASS	0.418	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		5	171	5	171	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169846536	169846536	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:169846536G>C	ENST00000494943.1	-	8	1756	c.1688C>G	c.(1687-1689)cCt>cGt	p.P563R	PHC3_ENST00000495893.2_Missense_Mutation_p.P575R|PHC3_ENST00000467570.1_Missense_Mutation_p.P522R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	563	Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P575R(1)|p.P544R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGTGGAGGAGGAAGAGTCTG	0.502																																						uc010hws.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1687-1689)CCT>CGT		polyhomeotic like 3							101.0	104.0	103.0					3																	169846536		1981	4176	6157	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169846536G>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1688C>G	3.37:g.169846536G>C	ENSP00000420271:p.Pro563Arg					PHC3_uc003fgl.2_Missense_Mutation_p.P575R|PHC3_uc011bpq.1_Missense_Mutation_p.P522R|PHC3_uc011bpr.1_Missense_Mutation_p.P489R	p.P563R	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1752	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		563			Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1688C>G		.	.	.	.	.	.	.	.	.	.	G	18.13	3.556471	0.65425	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.35789	1.29;1.33	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000002	T	0.56411	0.1983	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.999	T	0.52793	-0.8528	10	0.51188	T	0.08	-18.5819	19.8034	0.96518	0.0:0.0:1.0:0.0	.	522;522;563;575	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	R	563;575;522	ENSP00000420271:P563R;ENSP00000420294:P575R	ENSP00000419089:P522R	P	-	2	0	PHC3	171329230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.641000	0.74324	2.670000	0.90874	0.563000	0.77884	CCT		PASS	0.502	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		334	65	334	65	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896648	169896648	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:169896648G>T	ENST00000494943.1	-	2	125	c.57C>A	c.(55-57)acC>acA	p.T19T	PHC3_ENST00000474275.1_Silent_p.T19T|PHC3_ENST00000495893.2_Silent_p.T31T|PHC3_ENST00000481639.1_Silent_p.T31T|PHC3_ENST00000467570.1_Silent_p.T31T|PHC3_ENST00000497658.1_Silent_p.T31T			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	19	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T19T(1)|p.T31T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			tggtggtggtggtACTGCTGG	0.488																																						uc010hws.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(55-57)ACC>ACA		polyhomeotic like 3							292.0	302.0	299.0					3																	169896648		2117	4245	6362	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896648G>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.57C>A	3.37:g.169896648G>T						PHC3_uc003fgl.2_Silent_p.T31T|PHC3_uc011bpq.1_Silent_p.T31T|PHC3_uc011bpr.1_Silent_p.T31T|PHC3_uc003fgm.2_Silent_p.T31T|PHC3_uc003fgo.1_Silent_p.T19T|PHC3_uc003fgp.3_Silent_p.T31T|PHC3_uc003fgq.3_Silent_p.T31T|PHC3_uc003fgr.1_RNA	p.T19T	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	121	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		19			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.57C>A																																																																																					PASS	0.488	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		11	656	11	656	---	---	---	---
SKIL	6498	broad.mit.edu	37	3	170078995	170078995	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:170078995G>T	ENST00000458537.3	+	1	1585	c.876G>T	c.(874-876)ctG>ctT	p.L292L	SKIL_ENST00000413427.2_Silent_p.L292L|SKIL_ENST00000259119.4_Silent_p.L292L|SKIL_ENST00000426052.2_Silent_p.L272L	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	292					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.L292L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTCAATGTCTGGAGTGTTGTG	0.468																																						uc003fgu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(874-876)CTG>CTT		SKI-like isoform 1							151.0	139.0	143.0					3																	170078995		2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078995G>T	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.876G>T	3.37:g.170078995G>T						SKIL_uc011bps.1_Silent_p.L272L|SKIL_uc003fgv.2_Silent_p.L292L|SKIL_uc003fgw.2_Silent_p.L292L	p.L292L	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	1588	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		292					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.876G>T	CCDS33890.1																																																																																				PASS	0.468	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		7	269	7	269	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173997089	173997089	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:173997089G>T	ENST00000457714.1	+	6	1727	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	NLGN1_ENST00000545397.1_Missense_Mutation_p.R433I|NLGN1_ENST00000401917.3_Missense_Mutation_p.R473I|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.R433I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	450					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R433I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATGTTTTGAGAGAAACCATT	0.383																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1297-1299)AGA>ATA		neuroligin 1							100.0	102.0	101.0					3																	173997089		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997089G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1298G>T	3.37:g.173997089G>T	ENSP00000392500:p.Arg433Ile					NLGN1_uc010hww.1_Missense_Mutation_p.R473I|NLGN1_uc003fip.1_Missense_Mutation_p.R433I	p.R433I	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1721	+	Ovarian(172;0.0025)		450			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1298G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752541	0.69533	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	L	0.34521	1.04	0.80722	D	1	P;P	0.46706	0.883;0.874	P;P	0.58130	0.833;0.523	T	0.61252	-0.7100	10	0.39692	T	0.17	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	473;433	D2X2H5;Q8N2Q7-2	.;.	I	433;433;433;473	ENSP00000392500:R433I;ENSP00000354541:R433I;ENSP00000441108:R433I;ENSP00000385750:R473I	ENSP00000354541:R433I	R	+	2	0	NLGN1	175479783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.797000	0.96272	0.563000	0.77884	AGA		PASS	0.383	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		7	249	7	249	---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179292177	179292177	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:179292177G>T	ENST00000429709.2	+	5	611	c.398G>T	c.(397-399)aGa>aTa	p.R133I	ACTL6A_ENST00000450518.2_Missense_Mutation_p.R91I|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R91I	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	133					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.R133I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AGAGCAAAGAGAGAGAAACTG	0.353																																						uc003fjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(397-399)AGA>ATA		actin-like 6A isoform 1							166.0	167.0	166.0					3																	179292177		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179292177G>T	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.398G>T	3.37:g.179292177G>T	ENSP00000397552:p.Arg133Ile					ACTL6A_uc003fjx.2_Missense_Mutation_p.R91I|ACTL6A_uc003fjy.2_Missense_Mutation_p.R91I	p.R133I	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		5	571	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		133					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.398G>T	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378556	0.95945	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.97089	-4.24;-4.24;-4.24	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98824	1.0748	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	133	O96019	ACL6A_HUMAN	I	133;91;91	ENSP00000397552:R133I;ENSP00000394014:R91I;ENSP00000376430:R91I	ENSP00000376430:R91I	R	+	2	0	ACTL6A	180774871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.844000	0.99494	2.854000	0.98071	0.655000	0.94253	AGA		PASS	0.353	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		8	439	8	439	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179481915	179481915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:179481915G>T	ENST00000263966.3	+	18	2689	c.2218G>T	c.(2218-2220)Gga>Tga	p.G740*	USP13_ENST00000496897.1_Nonsense_Mutation_p.G675*	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	740	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.|USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G740*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CACCTCCATGGGATTTCAGCG	0.488																																						uc003fkh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2218-2220)GGA>TGA		ubiquitin thiolesterase 13							135.0	119.0	124.0					3																	179481915		2203	4300	6503	SO:0001587	stop_gained	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179481915G>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2218G>T	3.37:g.179481915G>T	ENSP00000263966:p.Gly740*						p.G740*	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		18	2299	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		740			UBA 2.		A8K2S3|B4DYF3|D3DNS2|Q96B25	Nonsense_Mutation	SNP	ENST00000263966.3	37	c.2218G>T	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	45	11.451910	0.99562	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.6515	19.8199	0.96589	0.0:0.0:1.0:0.0	.	.	.	.	X	740;675	.	ENSP00000263966:G740X	G	+	1	0	USP13	180964609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.441000	0.97557	2.677000	0.91161	0.655000	0.94253	GGA		PASS	0.488	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			10	391	10	391	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182554253	182554253	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:182554253C>A	ENST00000323116.5	+	6	807	c.547C>A	c.(547-549)Ctg>Atg	p.L183M	ATP11B_ENST00000493826.1_Missense_Mutation_p.L183M|ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	183					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L183M(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGAAACTAACCTGAAGGTTTG	0.388																																						uc003flb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(547-549)CTG>ATG		ATPase, class VI, type 11B							186.0	173.0	177.0					3																	182554253		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182554253C>A	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.547C>A	3.37:g.182554253C>A	ENSP00000321195:p.Leu183Met					ATP11B_uc003fla.2_Missense_Mutation_p.L183M	p.L183M	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		6	804	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		183			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.547C>A	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641307	0.67244	.	.	ENSG00000058063	ENST00000323116;ENST00000493826	D;D	0.89123	-2.47;-2.47	5.43	2.7	0.31948	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.067037	0.64402	D	0.000010	D	0.94188	0.8135	M	0.89163	3.01	0.53688	D	0.999977	D;D	0.64830	0.994;0.994	D;D	0.72982	0.943;0.979	D	0.92955	0.6384	10	0.59425	D	0.04	.	10.4992	0.44796	0.0:0.79:0.0:0.21	.	183;183	Q9Y2G3;B4DKX1	AT11B_HUMAN;.	M	183	ENSP00000321195:L183M;ENSP00000419032:L183M	ENSP00000321195:L183M	L	+	1	2	ATP11B	184036947	1.000000	0.71417	0.994000	0.49952	0.844000	0.47949	2.489000	0.45285	0.272000	0.22027	0.591000	0.81541	CTG		PASS	0.388	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		10	617	10	617	---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183860854	183860854	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:183860854G>A	ENST00000273783.3	+	12	1791	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I	EIF2B5_ENST00000444495.1_Missense_Mutation_p.V557I	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	557	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.V557I(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCAGAATGAAGTTTTAGGAAC	0.438																																						uc003fmp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1669-1671)GTT>ATT		eukaryotic translation initiation factor 2B,							85.0	82.0	83.0					3																	183860854		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183860854G>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1669G>A	3.37:g.183860854G>A	ENSP00000273783:p.Val557Ile					EIF2B5_uc003fmq.2_Missense_Mutation_p.V278I|EIF2B5_uc003fmr.2_5'Flank	p.V557I	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		12	2033	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		557			W2.		Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.1669G>A	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.249367	0.80024	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.83755	-1.76;-1.76	5.89	5.89	0.94794	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	M	0.83012	2.62	0.80722	D	1	B;P	0.51057	0.358;0.941	B;D	0.70227	0.304;0.968	D	0.90867	0.4743	10	0.45353	T	0.12	-16.3367	20.2566	0.98424	0.0:0.0:1.0:0.0	.	557;557	E9PC74;Q13144	.;EI2BE_HUMAN	I	557;557;313	ENSP00000273783:V557I;ENSP00000409142:V557I	ENSP00000273783:V557I	V	+	1	0	EIF2B5	185343548	1.000000	0.71417	0.994000	0.49952	0.613000	0.37349	9.623000	0.98386	2.793000	0.96121	0.561000	0.74099	GTT		PASS	0.438	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			8	106	8	106	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184003289	184003289	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:184003289G>T	ENST00000402825.3	+	10	1526	c.1526G>T	c.(1525-1527)tGg>tTg	p.W509L	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.W437L|ECE2_ENST00000359140.4_Missense_Mutation_p.W362L|ECE2_ENST00000404464.3_Missense_Mutation_p.W391L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	509	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.W437L(1)|p.W509L(1)|p.W362L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTGATCTGGAACCTGGTG	0.517											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fni.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)	4						c.(1525-1527)TGG>TTG		endothelin converting enzyme 2 isoform A							111.0	107.0	108.0					3																	184003289		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184003289G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1526G>T	3.37:g.184003289G>T	ENSP00000384223:p.Trp509Leu		OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ECE2_uc011brh.1_Missense_Mutation_p.W362L|ECE2_uc003fnl.3_Missense_Mutation_p.W437L|ECE2_uc003fnm.3_Missense_Mutation_p.W391L|ECE2_uc003fnk.3_Missense_Mutation_p.W362L|ECE2_uc011bri.1_Missense_Mutation_p.W424L|ECE2_uc010hxv.2_Missense_Mutation_p.W153L	p.W509L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1564	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		509			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1526G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865633	0.71949	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	4.23	4.23	0.50019	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.86205	0.5877	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.998;1.0;0.999;0.998	P;D;D;D;D;D;D	0.71414	0.894;0.973;0.973;0.961;0.954;0.917;0.94	D	0.88804	0.3287	10	0.87932	D	0	-9.5187	15.3347	0.74241	0.0:0.0:1.0:0.0	.	111;362;380;391;437;362;509	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	L	509;362;391;437;383	ENSP00000384223:W509L;ENSP00000352052:W362L;ENSP00000385846:W391L;ENSP00000350066:W437L;ENSP00000398444:W383L	ENSP00000350066:W437L	W	+	2	0	ECE2	185485983	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.976000	0.56867	2.206000	0.71126	0.467000	0.42956	TGG		PASS	0.517	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		7	313	7	313	---	---	---	---
SENP2	59343	broad.mit.edu	37	3	185316246	185316246	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:185316246C>T	ENST00000296257.5	+	3	444	c.204C>T	c.(202-204)agC>agT	p.S68S	SENP2_ENST00000545472.1_Silent_p.S58S|SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_3'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	68					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.A68A(1)|p.S68S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATGCTGCCAGCTTATTTGGAT	0.413																																						uc003fpn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(202-204)AGC>AGT		SUMO1/sentrin/SMT3 specific protease 2							85.0	83.0	84.0					3																	185316246		2203	4300	6503	SO:0001819	synonymous_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185316246C>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.204C>T	3.37:g.185316246C>T						SENP2_uc011brv.1_Silent_p.S58S|SENP2_uc011brw.1_5'UTR	p.S68S	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		3	375	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		68					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	c.204C>T	CCDS33902.1																																																																																				PASS	0.413	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		15	143	15	143	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186980345	186980345	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:186980345T>A	ENST00000337774.5	-	3	790	c.401A>T	c.(400-402)cAc>cTc	p.H134L	MASP1_ENST00000169293.6_Missense_Mutation_p.H134L|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.H21L|MASP1_ENST00000296280.6_Missense_Mutation_p.H134L|MASP1_ENST00000392470.2_Missense_Mutation_p.H108L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	134	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.H134L(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCCATGTAGTGGGCATCAAA	0.527																																						uc003frh.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(1)|liver(1)	4						c.(400-402)CAC>CTC		mannan-binding lectin serine protease 1 isoform							72.0	75.0	74.0					3																	186980345		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186980345T>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.401A>T	3.37:g.186980345T>A	ENSP00000336792:p.His134Leu					MASP1_uc003fri.2_Missense_Mutation_p.H134L|MASP1_uc003frj.2_Missense_Mutation_p.H103L|MASP1_uc003frk.1_Missense_Mutation_p.H134L|MASP1_uc011bse.1_Missense_Mutation_p.H108L	p.H134L	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	3	733	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		134			Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.401A>T	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.649278	0.29336	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470;ENST00000392475	T;T;D;T;T;T	0.81659	2.28;2.28;-1.52;2.28;2.28;2.28	5.45	5.45	0.79879	CUB (5);	0.000000	0.85682	D	0.000000	D	0.84115	0.5401	L	0.46741	1.465	0.58432	D	0.999997	P;P;P;P;P	0.52577	0.462;0.802;0.954;0.643;0.941	B;B;P;B;P	0.58266	0.151;0.302;0.836;0.246;0.607	D	0.83799	0.0235	10	0.41790	T	0.15	.	15.001	0.71473	0.0:0.0:0.0:1.0	.	108;134;21;134;134	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	L	134;134;21;21;134;108;141	ENSP00000336792:H134L;ENSP00000296280:H134L;ENSP00000376264:H21L;ENSP00000169293:H134L;ENSP00000376262:H108L;ENSP00000376267:H141L	ENSP00000169293:H134L	H	-	2	0	MASP1	188463039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.007000	0.70731	2.201000	0.70794	0.533000	0.62120	CAC		PASS	0.527	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		43	179	43	179	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194151920	194151920	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:194151920C>T	ENST00000439040.1	-	23	3248	c.2457G>A	c.(2455-2457)gaG>gaA	p.E819E	ATP13A3_ENST00000256031.4_Silent_p.E819E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	819						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E819E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTGAAGATCCTCTAAGCTAT	0.348																																						uc003fty.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2455-2457)GAG>GAA		ATPase type 13A3							119.0	109.0	112.0					3																	194151920		1889	4106	5995	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194151920C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2457G>A	3.37:g.194151920C>T						ATP13A3_uc003ftz.1_Silent_p.E525E	p.E819E	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	22	2859	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	819					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.2457G>A	CCDS43187.1																																																																																				PASS	0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		16	136	16	136	---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197598320	197598320	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:197598320C>A	ENST00000425562.2	+	19	2117	c.2117C>A	c.(2116-2118)cCc>cAc	p.P706H	LRCH3_ENST00000438796.2_Missense_Mutation_p.P706H|LRCH3_ENST00000441090.2_Missense_Mutation_p.P552H|LRCH3_ENST00000536618.1_Missense_Mutation_p.P301H|LRCH3_ENST00000334859.4_Missense_Mutation_p.P706H|LRCH3_ENST00000414675.2_Missense_Mutation_p.P654H			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	706	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.P706H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ATTCATGTTCCCTCACCAGCT	0.443																																						uc011bul.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2116-2118)CCC>CAC		leucine-rich repeats and calponin homology (CH)							254.0	233.0	240.0					3																	197598320		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197598320C>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.2117C>A	3.37:g.197598320C>A	ENSP00000393579:p.Pro706His					LRCH3_uc003fyj.1_Missense_Mutation_p.P706H|LRCH3_uc011bum.1_Missense_Mutation_p.P654H|LRCH3_uc011bun.1_Missense_Mutation_p.P552H|LRCH3_uc003fyk.2_Missense_Mutation_p.P301H	p.P706H	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	19	2122	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		706			CH.		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.2117C>A		.	.	.	.	.	.	.	.	.	.	C	26.4	4.729676	0.89390	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298	T;T;T;D;T;T;T;T	0.84660	1.39;1.04;1.59;-1.88;1.59;0.4;0.57;0.65	5.27	5.27	0.74061	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.95023	0.8389	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.96347	0.9255	10	0.87932	D	0	-13.9874	18.9492	0.92635	0.0:1.0:0.0:0.0	.	552;654;706;706;706	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	H	706;552;654;706;706;301;181;143	ENSP00000399751:P706H;ENSP00000394609:P552H;ENSP00000394965:P654H;ENSP00000334375:P706H;ENSP00000393579:P706H;ENSP00000439083:P301H;ENSP00000395309:P181H;ENSP00000400164:P143H	ENSP00000334375:P706H	P	+	2	0	LRCH3	199082717	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.416000	0.80143	2.477000	0.83638	0.650000	0.86243	CCC		PASS	0.443	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		8	290	8	290	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10445265	10445265	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:10445265T>A	ENST00000326756.3	-	3	3126	c.2688A>T	c.(2686-2688)ttA>ttT	p.L896F		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	896					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L896F(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCTTCCTGGATAAGTGTACTT	0.393																																						uc003gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2686-2688)TTA>TTT		zinc finger protein 518B							76.0	82.0	80.0					4																	10445265		2203	4299	6502	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445265T>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2688A>T	4.37:g.10445265T>A	ENSP00000317614:p.Leu896Phe						p.L896F	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	3175	-			896					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2688A>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028518	0.35797	.	.	ENSG00000178163	ENST00000326756	T	0.01647	4.71	6.01	-3.3	0.05003	.	1.666880	0.03237	N	0.179776	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47923	-0.9079	10	0.24483	T	0.36	-3.8975	1.275	0.02028	0.189:0.2617:0.3318:0.2175	.	896	Q9C0D4	Z518B_HUMAN	F	896	ENSP00000317614:L896F	ENSP00000317614:L896F	L	-	3	2	ZNF518B	10054363	0.000000	0.05858	0.047000	0.18901	0.057000	0.15508	-0.451000	0.06795	-0.147000	0.11254	-0.299000	0.09455	TTA		PASS	0.393	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		11	52	11	52	---	---	---	---
MED28	80306	broad.mit.edu	37	4	17623283	17623283	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:17623283G>T	ENST00000237380.7	+	3	324	c.300G>T	c.(298-300)ttG>ttT	p.L100F		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	100					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)		p.L100F(1)		lung(6)|skin(2)	8						AAAAAAGATTGCAGTTATCTG	0.353																																						uc003gpi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TTG>TTT		mediator complex subunit 28							59.0	64.0	62.0					4																	17623283		2203	4299	6502	SO:0001583	missense	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17623283G>T	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.300G>T	4.37:g.17623283G>T	ENSP00000237380:p.Leu100Phe					MED28_uc003gpj.2_RNA	p.L100F	NM_025205	NP_079481	Q9H204	MED28_HUMAN			3	312	+			100					Q9BZJ5	Missense_Mutation	SNP	ENST00000237380.7	37	c.300G>T	CCDS33963.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975892	0.18736	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	4.92	2.72	0.32119	.	0.063916	0.64402	D	0.000007	T	0.36991	0.0987	N	0.17872	0.535	0.48452	D	0.999655	B	0.16603	0.018	B	0.23419	0.046	T	0.08722	-1.0708	9	0.15499	T	0.54	.	8.2397	0.31652	0.3091:0.0:0.6909:0.0	.	100	Q9H204	MED28_HUMAN	F	100;97	.	ENSP00000237380:L100F	L	+	3	2	MED28	17232381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.043000	0.41231	1.141000	0.42275	0.462000	0.41574	TTG		PASS	0.353	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		4	26	4	26	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55564640	55564640	+	Missense_Mutation	SNP	A	A	T	rs532461931		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:55564640A>T	ENST00000288135.5	+	3	625	c.528A>T	c.(526-528)aaA>aaT	p.K176N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	176	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K176N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAAGTGTGAAACGCGCCTACC	0.527		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		1	Substitution - Missense(1)		lung(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(526-528)AAA>AAT		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						93.0	84.0	87.0					4																	55564640		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55564640A>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.528A>T	4.37:g.55564640A>T	ENSP00000288135:p.Lys176Asn					KIT_uc010igs.2_Missense_Mutation_p.K176N	p.K176N	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	3	615	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		176			Extracellular (Potential).|Ig-like C2-type 2.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.528A>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.349112	0.24426	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.77620	-1.11;-1.11	5.57	1.47	0.22746	Immunoglobulin-like fold (1);	0.228496	0.31381	N	0.007752	T	0.66954	0.2842	L	0.56769	1.78	0.32834	D	0.50449	B;B	0.34399	0.222;0.452	B;B	0.26864	0.061;0.074	T	0.65063	-0.6259	10	0.35671	T	0.21	.	8.4845	0.33063	0.4368:0.0:0.5632:0.0	.	176;176	P10721-2;P10721	.;KIT_HUMAN	N	176	ENSP00000288135:K176N;ENSP00000390987:K176N	ENSP00000288135:K176N	K	+	3	2	KIT	55259397	1.000000	0.71417	0.904000	0.35570	0.081000	0.17604	0.548000	0.23314	-0.056000	0.13221	-0.925000	0.02716	AAA		PASS	0.527	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			22	23	22	23	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55964865	55964865	+	Splice_Site	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:55964865C>G	ENST00000263923.4	-	16	2667	c.2372G>C	c.(2371-2373)cGg>cCg	p.R791P		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	791					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R791P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTTTACCCGCTTAACGGT	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2371-2373)CGG>CCG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	88.0	87.0					4																	55964865		2203	4300	6503	SO:0001630	splice_region_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964865C>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2373+1G>C	4.37:g.55964865C>G		TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.R791P	p.R791P	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		16	2674	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		791			Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2372G>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033150	0.75504	.	.	ENSG00000128052	ENST00000263923	T	0.79749	-1.3	5.97	5.97	0.96955	.	0.134191	0.49916	D	0.000139	D	0.89093	0.6617	M	0.64404	1.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	D	0.88914	0.3361	10	0.87932	D	0	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	791	P35968	VGFR2_HUMAN	P	791	ENSP00000263923:R791P	ENSP00000263923:R791P	R	-	2	0	KDR	55659622	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.571000	0.60879	2.831000	0.97527	0.655000	0.94253	CGG		PASS	0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Missense_Mutation	17	42	17	42	---	---	---	---
REST	5978	broad.mit.edu	37	4	57796520	57796520	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:57796520T>A	ENST00000309042.7	+	4	1810	c.1496T>A	c.(1495-1497)gTg>gAg	p.V499E		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	499	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.V499E(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTAACAGAGGTGAAAGAGATG	0.383																																						uc003hch.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(1495-1497)GTG>GAG		RE1-silencing transcription factor							73.0	75.0	74.0					4																	57796520		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796520T>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1496T>A	4.37:g.57796520T>A	ENSP00000311816:p.Val499Glu					REST_uc003hci.2_Missense_Mutation_p.V499E|REST_uc010ihf.2_Missense_Mutation_p.V173E	p.V499E	NM_005612	NP_005603	Q13127	REST_HUMAN			4	1843	+	Glioma(25;0.08)|all_neural(26;0.181)		499			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1496T>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.256471	0.00265	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06608	3.28	5.82	0.858	0.19030	.	1.697940	0.02930	N	0.139040	T	0.04724	0.0128	N	0.22421	0.69	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.17722	0.019;0.008	T	0.40384	-0.9566	10	0.27785	T	0.31	1.0207	0.7135	0.00928	0.1618:0.3248:0.2233:0.2902	.	476;499	F8WAN5;Q13127	.;REST_HUMAN	E	499;476	ENSP00000311816:V499E	ENSP00000311816:V499E	V	+	2	0	REST	57491277	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.076000	0.14712	0.109000	0.17891	-1.245000	0.01525	GTG		PASS	0.383	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		6	67	6	67	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62775359	62775359	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:62775359A>G	ENST00000514591.1	+	11	2094	c.1765A>G	c.(1765-1767)Acc>Gcc	p.T589A	LPHN3_ENST00000506720.1_Missense_Mutation_p.T657A|LPHN3_ENST00000506746.1_Missense_Mutation_p.T657A|LPHN3_ENST00000511324.1_Missense_Mutation_p.T657A|LPHN3_ENST00000508693.1_Missense_Mutation_p.T657A|LPHN3_ENST00000514996.1_Missense_Mutation_p.T589A|LPHN3_ENST00000514157.1_Missense_Mutation_p.T589A|LPHN3_ENST00000512091.2_Missense_Mutation_p.T589A|LPHN3_ENST00000508946.1_Missense_Mutation_p.T589A|LPHN3_ENST00000507625.1_Missense_Mutation_p.T657A|LPHN3_ENST00000506700.1_Missense_Mutation_p.T589A|LPHN3_ENST00000504896.1_Missense_Mutation_p.T589A|LPHN3_ENST00000545650.1_Missense_Mutation_p.T589A|LPHN3_ENST00000509896.1_Missense_Mutation_p.T657A|LPHN3_ENST00000507164.1_Missense_Mutation_p.T657A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	589					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T589A(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGGGGACATCACCTACTCTGT	0.478																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1765-1767)ACC>GCC		latrophilin 3 precursor							48.0	51.0	50.0					4																	62775359		1932	4134	6066	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62775359A>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1765A>G	4.37:g.62775359A>G	ENSP00000422533:p.Thr589Ala					LPHN3_uc003hcq.3_Missense_Mutation_p.T589A|LPHN3_uc003hct.2_5'UTR|LPHN3_uc003hcs.1_Missense_Mutation_p.T418A	p.T589A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			9	1938	+			589			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1765A>G	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.07|15.07	2.723787|2.723787	0.48728|0.48728	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.10099	.|2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.158658	.|0.56097	.|D	.|0.000030	T|T	0.09818|0.09818	0.0241|0.0241	L|L	0.29908|0.29908	0.895|0.895	0.44309|0.44309	D|D	0.997189|0.997189	.|B;B	.|0.28801	.|0.139;0.223	.|B;B	.|0.31290	.|0.127;0.054	T|T	0.15723|0.15723	-1.0427|-1.0427	5|10	.|0.44086	.|T	.|0.13	.|.	11.618|11.618	0.51099|0.51099	0.9282:0.0:0.0718:0.0|0.9282:0.0:0.0718:0.0	.|.	.|589;589	.|E9PE04;Q9HAR2-2	.|.;.	R|A	59|589;589;657;657;589;589;589;589;589;657;657;657;589;589;589;657;657;589	.|ENSP00000423388:T589A;ENSP00000422533:T589A;ENSP00000423787:T657A;ENSP00000425033:T657A;ENSP00000424120:T589A;ENSP00000439831:T589A;ENSP00000421476:T657A;ENSP00000424030:T657A;ENSP00000421372:T657A;ENSP00000425201:T589A;ENSP00000423434:T589A;ENSP00000421627:T589A;ENSP00000420931:T657A;ENSP00000425884:T657A;ENSP00000424258:T589A	.|ENSP00000280009:T589A	H|T	+|+	2|1	0|0	LPHN3|LPHN3	62457954|62457954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	3.293000|3.293000	0.51779|0.51779	2.178000|2.178000	0.69098|0.69098	0.524000|0.524000	0.50904|0.50904	CAC|ACC		PASS	0.478	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	9	7	9	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71508091	71508091	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:71508091T>G	ENST00000396073.3	+	9	1229	c.948T>G	c.(946-948)atT>atG	p.I316M	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	316					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.I316M(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCCAAATATTCGTGAAAATC	0.468																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(946-948)ATT>ATG		enamelin precursor							78.0	81.0	80.0					4																	71508091		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508091T>G	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.948T>G	4.37:g.71508091T>G	ENSP00000379383:p.Ile316Met						p.I316M	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1229	+			316					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.948T>G	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	T	9.386	1.074158	0.20227	.	.	ENSG00000132464	ENST00000396073	T	0.39787	1.06	5.93	3.54	0.40534	.	0.211529	0.33553	N	0.004795	T	0.42494	0.1205	M	0.80847	2.515	0.24203	N	0.995507	P	0.41524	0.753	B	0.39027	0.288	T	0.46803	-0.9165	10	0.62326	D	0.03	-6.9933	6.9657	0.24621	0.0:0.1731:0.0:0.8269	.	316	Q9NRM1	ENAM_HUMAN	M	316	ENSP00000379383:I316M	ENSP00000379383:I316M	I	+	3	3	ENAM	71726955	0.007000	0.16637	0.956000	0.39512	0.005000	0.04900	1.747000	0.38298	1.073000	0.40885	-0.290000	0.09829	ATT		PASS	0.468	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		36	16	36	16	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77290776	77290777	+	Splice_Site	DNP	CC	CC	AA			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:77290776_77290777CC>AA	ENST00000388914.3	-	10	1302	c.1150_1150GG>TT	c.(1150-1152)GGgc>TTggc	p.G384L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	384								p.?(2)|p.A384S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTAGATCAGCCTAAAAAAAGA	0.391																																						uc003hkb.3																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	skin(3)|ovary(2)|pancreas(1)	6						c.(1150-1152)GCT>TCT|c.e10-1		coiled-coil domain containing 158																																				SO:0001630	splice_region_variant	339965							g.chr4:77290776C>A|g.chr4:77290777C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1150_1150delinsAA	4.37:g.77290776_77290777delinsAA							p.A384S|p.A384_splice	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			10	1303	-			384|			Potential.|		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation|Splice_Site	SNP	ENST00000388914.3	37	c.1150G>T|c.1150_splice	CCDS43242.1																																																																																				PASS	0.391	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	Missense_Mutation	15|14	9	14	9	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169197228	169197228	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr4:169197228T>C	ENST00000393743.3	-	15	2374	c.2083A>G	c.(2083-2085)Ata>Gta	p.I695V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	695					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.I695V(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCTGGCTATGAGTTGCCGA	0.373																																						uc003irp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2083-2085)ATA>GTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							144.0	140.0	141.0					4																	169197228		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169197228T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2083A>G	4.37:g.169197228T>C	ENSP00000377344:p.Ile695Val						p.I695V	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2375	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	695					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2083A>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	2.433	-0.330312	0.05314	.	.	ENSG00000137628	ENST00000393743	T	0.17854	2.25	5.15	2.54	0.30619	.	0.189836	0.37906	N	0.001883	T	0.16128	0.0388	M	0.75264	2.295	0.27843	N	0.941035	P	0.43750	0.816	B	0.39027	0.288	T	0.10989	-1.0606	10	0.12766	T	0.61	.	7.5553	0.27820	0.0:0.0767:0.2253:0.698	.	695	Q8IY21	DDX60_HUMAN	V	695	ENSP00000377344:I695V	ENSP00000377344:I695V	I	-	1	0	DDX60	169433803	0.008000	0.16893	0.905000	0.35620	0.047000	0.14425	0.095000	0.15127	0.915000	0.36847	-0.385000	0.06624	ATA		PASS	0.373	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		29	11	29	11	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13793634	13793634	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:13793634G>T	ENST00000265104.4	-	49	8318	c.8214C>A	c.(8212-8214)gaC>gaA	p.D2738E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2738	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2738E(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGATCTTGTCCACAGAAG	0.478									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(8212-8214)GAC>GAA		dynein, axonemal, heavy chain 5							108.0	112.0	111.0					5																	13793634		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13793634G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8214C>A	5.37:g.13793634G>T	ENSP00000265104:p.Asp2738Glu						p.D2738E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			49	8256	-	Lung NSC(4;0.00476)		2738			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8214C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226298	0.79576	.	.	ENSG00000039139	ENST00000265104	T	0.34859	1.34	5.88	5.88	0.94601	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.77103	2.36	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	T	0.63699	-0.6578	10	0.59425	D	0.04	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	2738	Q8TE73	DYH5_HUMAN	E	2738	ENSP00000265104:D2738E	ENSP00000265104:D2738E	D	-	3	2	DNAH5	13846634	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	2.648000	0.46647	2.792000	0.96026	0.557000	0.71058	GAC		PASS	0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	99	15	99	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14507302	14507302	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:14507302A>T	ENST00000344204.4	+	56	8708	c.8684A>T	c.(8683-8685)cAc>cTc	p.H2895L	TRIO_ENST00000537187.1_Missense_Mutation_p.H2719L|TRIO_ENST00000344135.5_Missense_Mutation_p.H394L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H2895L(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATCAGGGCGCACCTGGGGGAG	0.622																																						uc003jff.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(8683-8685)CAC>CTC		triple functional domain (PTPRF interacting)							74.0	65.0	68.0					5																	14507302		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14507302A>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8684A>T	5.37:g.14507302A>T	ENSP00000339299:p.His2895Leu					TRIO_uc003jfg.2_RNA	p.H2895L	NM_007118	NP_009049	O75962	TRIO_HUMAN			56	8690	+	Lung NSC(4;0.000742)		2895			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.8684A>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.940902	0.92526	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.36157	1.27;1.27;1.27	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060690	0.64402	D	0.000002	T	0.17619	0.0423	N	0.00221	-1.82	0.35668	D	0.81308	P	0.39737	0.685	P	0.48030	0.564	T	0.58244	-0.7670	10	0.72032	D	0.01	.	15.6363	0.76958	1.0:0.0:0.0:0.0	.	2895	O75962	TRIO_HUMAN	L	2895;2719;394	ENSP00000339299:H2895L;ENSP00000446348:H2719L;ENSP00000339291:H394L	ENSP00000339291:H394L	H	+	2	0	TRIO	14560302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.304000	0.96190	2.088000	0.63022	0.533000	0.62120	CAC		PASS	0.622	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		13	17	13	17	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19544111	19544111	+	Nonsense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:19544111G>C	ENST00000507958.1	-	11	2247	c.1257C>G	c.(1255-1257)taC>taG	p.Y419*	CDH18_ENST00000382275.1_Nonsense_Mutation_p.Y419*|CDH18_ENST00000506372.1_Nonsense_Mutation_p.Y419*|CDH18_ENST00000502796.1_Nonsense_Mutation_p.Y419*|CDH18_ENST00000511273.1_Nonsense_Mutation_p.Y419*|CDH18_ENST00000274170.4_Nonsense_Mutation_p.Y419*			Q13634	CAD18_HUMAN	cadherin 18, type 2	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y419*(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTTGATGAAGTATCTAGAGA	0.308																																						uc003jgc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1255-1257)TAC>TAG		cadherin 18, type 2 preproprotein							72.0	69.0	70.0					5																	19544111		2203	4300	6503	SO:0001587	stop_gained	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544111G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1257C>G	5.37:g.19544111G>C	ENSP00000425093:p.Tyr419*					CDH18_uc003jgd.2_Nonsense_Mutation_p.Y419*|CDH18_uc011cnm.1_Nonsense_Mutation_p.Y419*	p.Y419*	NM_004934	NP_004925	Q13634	CAD18_HUMAN			8	1634	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		419			Extracellular (Potential).|Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Nonsense_Mutation	SNP	ENST00000507958.1	37	c.1257C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	45	11.751910	0.99599	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	.	.	.	5.44	-2.88	0.05682	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4243	0.55538	0.7955:0.0:0.2045:0.0	.	.	.	.	X	419;419;419;419;419;419;365;419	.	.	Y	-	3	2	CDH18	19579868	1.000000	0.71417	0.975000	0.42487	0.818000	0.46254	0.965000	0.29319	-0.451000	0.07097	-0.964000	0.02622	TAC		PASS	0.308	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		5	40	5	40	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21760696	21760696	+	Missense_Mutation	SNP	T	T	A	rs533294662		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:21760696T>A	ENST00000382254.1	-	13	2690	c.1604A>T	c.(1603-1605)aAa>aTa	p.K535I	CDH12_ENST00000504376.2_Missense_Mutation_p.K535I|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.K495I|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K535T(1)|p.K535I(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAAATTTGGTTTGATAGCAGC	0.388										HNSCC(59;0.17)			T|||	1	0.000199681	0.0	0.0014	5008	,	,		17295	0.0		0.0	False		,,,				2504	0.0					uc010iuc.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(1603-1605)AAA>ATA		cadherin 12, type 2 preproprotein							133.0	140.0	138.0					5																	21760696		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21760696T>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1604A>T	5.37:g.21760696T>A	ENSP00000371689:p.Lys535Ile	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.K495I|CDH12_uc003jgk.2_Missense_Mutation_p.K535I|uc003jgj.2_Intron	p.K535I	NM_004061	NP_004052	P55289	CAD12_HUMAN			10	2062	-			535			Extracellular (Potential).|Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1604A>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745935	0.69418	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.53857	0.6;0.6;0.6	5.19	4.03	0.46877	Cadherin (4);Cadherin-like (1);	0.090340	0.85682	D	0.000000	T	0.53077	0.1774	L	0.58810	1.83	0.48452	D	0.999656	B;P	0.48998	0.445;0.918	B;P	0.46144	0.374;0.505	T	0.56823	-0.7915	10	0.87932	D	0	.	10.8601	0.46821	0.0:0.074:0.0:0.926	.	495;535	B7Z2U6;P55289	.;CAD12_HUMAN	I	535;535;495	ENSP00000423577:K535I;ENSP00000371689:K535I;ENSP00000428786:K495I	ENSP00000371689:K535I	K	-	2	0	CDH12	21796453	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	2.555000	0.45854	0.928000	0.37168	0.528000	0.53228	AAA		PASS	0.388	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		8	125	8	125	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26885766	26885766	+	Silent	SNP	C	C	A	rs145328141	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:26885766C>A	ENST00000231021.4	-	11	2011	c.1839G>T	c.(1837-1839)acG>acT	p.T613T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	613					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T613T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CGAGAGCTCCCGTGCTCAGGC	0.512																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1837-1839)ACG>ACT		cadherin 9, type 2 preproprotein							77.0	65.0	69.0					5																	26885766		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885766C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1839G>T	5.37:g.26885766C>A						CDH9_uc011cnv.1_Silent_p.T206T	p.T613T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	2008	-			613			Extracellular (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1839G>T	CCDS3893.1																																																																																				PASS	0.512	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		35	19	35	19	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983601	31983601	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:31983601C>G	ENST00000438447.1	+	3	1205	c.817C>G	c.(817-819)Ctc>Gtc	p.L273V	PDZD2_ENST00000282493.3_Missense_Mutation_p.L273V			O15018	PDZD2_HUMAN	PDZ domain containing 2	273					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.L273V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCAGATTCTCTCAAGGAGGT	0.532																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(817-819)CTC>GTC		PDZ domain containing 2							69.0	72.0	71.0					5																	31983601		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983601C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.817C>G	5.37:g.31983601C>G	ENSP00000402033:p.Leu273Val					PDZD2_uc003jhm.2_Missense_Mutation_p.L273V|PDZD2_uc011cnx.1_Missense_Mutation_p.L99V	p.L273V	NM_178140	NP_835260	O15018	PDZD2_HUMAN			3	1205	+			273					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.817C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149979	0.57151	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07021	3.23;3.23	5.53	3.62	0.41486	.	0.000000	0.39834	N	0.001259	T	0.13670	0.0331	L	0.27053	0.805	0.26643	N	0.972255	D;D	0.69078	0.979;0.997	P;D	0.78314	0.639;0.991	T	0.06661	-1.0814	10	0.31617	T	0.26	.	8.3623	0.32365	0.177:0.6523:0.1707:0.0	.	99;273	B4E3P2;O15018	.;PDZD2_HUMAN	V	273	ENSP00000402033:L273V;ENSP00000282493:L273V	ENSP00000282493:L273V	L	+	1	0	PDZD2	32019358	0.588000	0.26799	0.875000	0.34327	0.898000	0.52572	1.210000	0.32370	1.310000	0.45006	0.460000	0.39030	CTC		PASS	0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	127	9	127	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090546	32090546	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:32090546C>A	ENST00000438447.1	+	20	7380	c.6992C>A	c.(6991-6993)tCa>tAa	p.S2331*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.S2331*			O15018	PDZD2_HUMAN	PDZ domain containing 2	2331					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S2331*(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAATCTACCTCATTTTTCTCT	0.507																																						uc003jhl.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(6991-6993)TCA>TAA		PDZ domain containing 2							71.0	70.0	70.0					5																	32090546		2203	4300	6503	SO:0001587	stop_gained	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090546C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6992C>A	5.37:g.32090546C>A	ENSP00000402033:p.Ser2331*					PDZD2_uc003jhm.2_Nonsense_Mutation_p.S2331*	p.S2331*	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	7380	+			2331					Q9BXD4	Nonsense_Mutation	SNP	ENST00000438447.1	37	c.6992C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	50	16.688708	0.99869	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.15	5.15	0.70609	.	0.000000	0.42548	D	0.000695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1187	0.81325	0.0:1.0:0.0:0.0	.	.	.	.	X	2331;2132;2331	.	ENSP00000282493:S2331X	S	+	2	0	PDZD2	32126303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.741000	0.68638	2.381000	0.81170	0.561000	0.74099	TCA		PASS	0.507	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	188	6	188	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	40998243	40998243	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:40998243G>T	ENST00000399564.4	-	42	5119	c.4669C>A	c.(4669-4671)Caa>Aaa	p.Q1557K	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q1112K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1557								p.Q1557K(1)									CACGGATCTTGACGAAGTGCT	0.488																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(4669-4671)CAA>AAA		HEAT repeat family member 7B2							169.0	158.0	161.0					5																	40998243		1933	4161	6094	SO:0001583	missense	133558						binding	g.chr5:40998243G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4669C>A	5.37:g.40998243G>T	ENSP00000382476:p.Gln1557Lys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q1112K	p.Q1557K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			42	5159	-			1557					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4669C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.063953	0.00386	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.01221	5.15;5.4	4.43	1.45	0.22620	Armadillo-like helical (1);Armadillo-type fold (1);	0.309974	0.23407	N	0.048519	T	0.00815	0.0027	N	0.24115	0.695	0.21220	N	0.999757	B	0.29552	0.248	B	0.28991	0.097	T	0.44329	-0.9335	10	0.02654	T	1	.	2.7365	0.05241	0.1021:0.1839:0.5242:0.1897	.	1557	Q7Z745	HTRB2_HUMAN	K	1112;1262;1557	ENSP00000441504:Q1112K;ENSP00000382476:Q1557K	ENSP00000296803:Q1262K	Q	-	1	0	HEATR7B2	41034000	0.960000	0.32886	0.810000	0.32431	0.008000	0.06430	1.135000	0.31454	0.622000	0.30249	-0.136000	0.14681	CAA		PASS	0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		124	119	124	119	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262468	45262468	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:45262468G>T	ENST00000303230.4	-	8	2285	c.2228C>A	c.(2227-2229)cCg>cAg	p.P743Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	743	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P743L(1)|p.P743Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						agtctgcggcggctgggactg	0.637																																						uc003jok.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(2227-2229)CCG>CAG		hyperpolarization activated cyclic							30.0	32.0	32.0					5																	45262468		2203	4299	6502	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262468G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2228C>A	5.37:g.45262468G>T	ENSP00000307342:p.Pro743Gln						p.P743Q	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2253	-			743			Gln-rich.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2228C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	5.706	0.314854	0.10789	.	.	ENSG00000164588	ENST00000303230	T	0.75938	-0.98	4.49	2.52	0.30459	.	0.449943	0.18476	N	0.140075	T	0.51261	0.1664	N	0.19112	0.55	0.19300	N	0.999973	B	0.02656	0.0	B	0.04013	0.001	T	0.18429	-1.0337	10	0.19147	T	0.46	.	3.3166	0.07035	0.2156:0.0:0.506:0.2784	.	743	O60741	HCN1_HUMAN	Q	743	ENSP00000307342:P743Q	ENSP00000307342:P743Q	P	-	2	0	HCN1	45298225	0.208000	0.23494	0.560000	0.28344	0.776000	0.43924	-0.200000	0.09478	1.215000	0.43411	0.655000	0.94253	CCG		PASS	0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		6	4	6	4	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262722	45262722	+	Silent	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:45262722G>C	ENST00000303230.4	-	8	2031	c.1974C>G	c.(1972-1974)tcC>tcG	p.S658S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	658					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.S658S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCTCATGCGGGAGGTCGGGG	0.557																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1972-1974)TCC>TCG		hyperpolarization activated cyclic							178.0	171.0	174.0					5																	45262722		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262722G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1974C>G	5.37:g.45262722G>C							p.S658S	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	1999	-			658			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1974C>G	CCDS3952.1																																																																																				PASS	0.557	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		20	44	20	44	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45267206	45267206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:45267206G>A	ENST00000303230.4	-	7	1825	c.1768C>T	c.(1768-1770)Cga>Tga	p.R590*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	590					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R590*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGATCTAGTCGGTCAATGGCA	0.393																																						uc003jok.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1768-1770)CGA>TGA		hyperpolarization activated cyclic							159.0	146.0	151.0					5																	45267206		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267206G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1768C>T	5.37:g.45267206G>A	ENSP00000307342:p.Arg590*						p.R590*	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1793	-			590			cAMP.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.1768C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	38	7.201430	0.98132	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2195	0.59879	0.0:0.0:0.7383:0.2617	.	.	.	.	X	590	.	ENSP00000307342:R590X	R	-	1	2	HCN1	45302963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.179000	0.50887	2.813000	0.96785	0.655000	0.94253	CGA		PASS	0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		53	33	53	33	---	---	---	---
IL6ST	3572	broad.mit.edu	37	5	55247854	55247854	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:55247854T>A	ENST00000381298.2	-	13	1914	c.1602A>T	c.(1600-1602)gaA>gaT	p.E534D	IL6ST_ENST00000381294.3_Missense_Mutation_p.E473D|IL6ST_ENST00000502326.3_Missense_Mutation_p.E534D|IL6ST_ENST00000336909.5_Missense_Mutation_p.E534D|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	534	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.E534D(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CTAAGACAGCTTCGTTTTTCC	0.353			O		hepatocellular ca																																	uc003jqq.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1600-1602)GAA>GAT		interleukin 6 signal transducer isoform 1							76.0	66.0	69.0					5																	55247854		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55247854T>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1602A>T	5.37:g.55247854T>A	ENSP00000370698:p.Glu534Asp					IL6ST_uc010iwb.2_Missense_Mutation_p.E473D|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.E245D|IL6ST_uc003jqr.2_3'UTR|IL6ST_uc010iwe.1_5'Flank	p.E534D	NM_002184	NP_002175	P40189	IL6RB_HUMAN			13	1857	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	534			Extracellular (Potential).|Fibronectin type-III 5.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1602A>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.291167	0.59976	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.57752	0.38;0.38;0.38	5.83	4.68	0.58851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.170617	0.64402	D	0.000020	T	0.57562	0.2062	M	0.71581	2.175	0.80722	D	1	B;P;B	0.38020	0.052;0.615;0.089	B;P;B	0.45660	0.065;0.489;0.086	T	0.56811	-0.7917	10	0.44086	T	0.13	.	8.8824	0.35382	0.0:0.1424:0.0:0.8576	.	534;473;534	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	D	534;534;473	ENSP00000370698:E534D;ENSP00000338799:E534D;ENSP00000370694:E473D	ENSP00000338799:E534D	E	-	3	2	IL6ST	55283611	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.228000	0.51270	1.048000	0.40298	0.533000	0.62120	GAA		PASS	0.353	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		12	5	12	5	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67593336	67593336	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:67593336G>T	ENST00000521381.1	+	16	2698	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	PIK3R1_ENST00000521657.1_Silent_p.L694L|PIK3R1_ENST00000523872.1_Silent_p.L331L|PIK3R1_ENST00000336483.5_Silent_p.L424L|PIK3R1_ENST00000396611.1_Silent_p.L702L|PIK3R1_ENST00000274335.5_Silent_p.L694L|PIK3R1_ENST00000320694.8_Silent_p.L394L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	694	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L694L(1)|p.L424L(1)|p.0?(1)|p.?(1)|p.L394L(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGAAAGAACTGGTGCTACATT	0.493			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		5	Substitution - coding silent(3)|Whole gene deletion(1)|Unknown(1)	p.?(1)	lung(4)|large_intestine(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(2080-2082)CTG>CTT		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						270.0	258.0	262.0					5																	67593336		2203	4300	6503	SO:0001819	synonymous_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67593336G>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.2082G>T	5.37:g.67593336G>T		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Silent_p.L694L|PIK3R1_uc003jvc.2_Silent_p.L394L|PIK3R1_uc003jvd.2_Silent_p.L424L|PIK3R1_uc003jve.2_Silent_p.L373L	p.L694L	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	16	2642	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	694			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	ENST00000521381.1	37	c.2082G>T	CCDS3993.1																																																																																				PASS	0.493	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		7	150	7	150	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79031807	79031807	+	Missense_Mutation	SNP	C	C	T	rs374325994		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:79031807C>T	ENST00000446378.2	+	2	7250	c.7219C>T	c.(7219-7221)Cca>Tca	p.P2407S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2407					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.P2407S(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCAGAGAAACCAGAGTCAAT	0.358																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(7219-7221)CCA>TCA		cardiomyopathy associated 5		C	SER/PRO	0,3728		0,0,1864	35.0	36.0	36.0		7219	1.4	0.0	5		36	1,8211		0,1,4105	no	missense	CMYA5	NM_153610.3	74	0,1,5969	TT,TC,CC		0.0122,0.0,0.0084	benign	2407/4070	79031807	1,11939	1864	4106	5970	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031807C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7219C>T	5.37:g.79031807C>T	ENSP00000394770:p.Pro2407Ser						p.P2407S	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7291	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2407					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7219C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.186326	0.01620	0.0	1.22E-4	ENSG00000164309	ENST00000446378	T	0.18810	2.19	6.17	1.39	0.22231	.	0.923518	0.09102	N	0.848420	T	0.21227	0.0511	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37888	-0.9686	10	0.17369	T	0.5	.	11.3145	0.49383	0.0:0.6072:0.0:0.3928	.	2407	Q8N3K9	CMYA5_HUMAN	S	2407	ENSP00000394770:P2407S	ENSP00000394770:P2407S	P	+	1	0	CMYA5	79067563	0.000000	0.05858	0.028000	0.17463	0.136000	0.21042	-0.299000	0.08254	-0.008000	0.14320	-1.731000	0.00696	CCA		PASS	0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		9	25	9	25	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127800548	127800548	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:127800548A>T	ENST00000508053.1	-	12	1669	c.695T>A	c.(694-696)aTt>aAt	p.I232N	FBN2_ENST00000262464.4_Missense_Mutation_p.I232N|FBN2_ENST00000508989.1_Missense_Mutation_p.I199N			P35556	FBN2_HUMAN	fibrillin 2	232	TB 1.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I232N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGTGCAGACAATGCCTGTCAG	0.567																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(694-696)ATT>AAT		fibrillin 2 precursor							88.0	84.0	85.0					5																	127800548		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127800548A>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.695T>A	5.37:g.127800548A>T	ENSP00000424571:p.Ile232Asn					FBN2_uc003kuv.2_Missense_Mutation_p.I199N|FBN2_uc003kuw.3_Missense_Mutation_p.I232N|FBN2_uc003kux.1_Missense_Mutation_p.I232N	p.I232N	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	6	1134	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	232			TB 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.695T>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241741	0.79912	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.91631	-2.88;-2.88;-2.88;-0.13	4.82	4.82	0.62117	Matrix fibril-associated (3);TGF-beta binding (1);	0.080725	0.49305	D	0.000142	D	0.91670	0.7367	N	0.14661	0.345	0.58432	D	0.999997	D;D;D;D	0.76494	0.997;0.999;0.995;0.986	D;D;D;P	0.77557	0.931;0.99;0.925;0.876	D	0.92519	0.6023	10	0.46703	T	0.11	.	15.0725	0.72049	1.0:0.0:0.0:0.0	.	199;232;199;232	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	N	232;232;199;232	ENSP00000262464:I232N;ENSP00000424571:I232N;ENSP00000425596:I199N;ENSP00000424753:I232N	ENSP00000262464:I232N	I	-	2	0	FBN2	127828447	1.000000	0.71417	0.984000	0.44739	0.982000	0.71751	9.229000	0.95273	2.107000	0.64212	0.397000	0.26171	ATT		PASS	0.567	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		31	6	31	6	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132424810	132424810	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:132424810C>T	ENST00000304858.2	+	10	1490	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	401					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.P401S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTACCATATCCAATATCTCT	0.328																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(1201-1203)CCA>TCA		heat shock 70kDa protein 4							103.0	105.0	104.0					5																	132424810		2203	4298	6501	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132424810C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1201C>T	5.37:g.132424810C>T	ENSP00000302961:p.Pro401Ser						p.P401S	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1482	+			401					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.1201C>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339791	0.24339	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.03553	3.89	5.58	1.81	0.25067	.	0.271798	0.43747	N	0.000525	T	0.01800	0.0057	N	0.03903	-0.33	0.58432	D	0.999999	B	0.09022	0.002	B	0.17979	0.02	T	0.52290	-0.8595	10	0.12766	T	0.61	-1.0416	11.285	0.49216	0.0:0.7396:0.0:0.2604	.	401	P34932	HSP74_HUMAN	S	401	ENSP00000302961:P401S	ENSP00000302961:P401S	P	+	1	0	HSPA4	132452709	1.000000	0.71417	0.957000	0.39632	0.967000	0.64934	1.462000	0.35266	0.403000	0.25479	-0.150000	0.13652	CCA		PASS	0.328	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		5	32	5	32	---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135692600	135692600	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:135692600G>A	ENST00000513104.1	-	2	758	c.476C>T	c.(475-477)aCg>aTg	p.T159M	TRPC7_ENST00000426057.2_Missense_Mutation_p.T159M|TRPC7_ENST00000355180.3_Missense_Mutation_p.T159M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	159					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.T159M(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGAAGCGCGTGCCGTCCTC	0.667																																						uc003lbn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(472-474)ACG>ATG		transient receptor potential cation channel,							133.0	141.0	138.0					5																	135692600		2203	4300	6503	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692600G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.476C>T	5.37:g.135692600G>A	ENSP00000426070:p.Thr159Met					TRPC7_uc010jef.1_Missense_Mutation_p.T150M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.T150M|TRPC7_uc010jei.1_Missense_Mutation_p.T150M|TRPC7_uc010jej.1_Translation_Start_Site	p.T158M	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	476	-			159			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.473C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712696	0.89112	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.70516	-0.49;-0.49;-0.49	5.27	5.27	0.74061	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.84442	0.5473	M	0.73962	2.25	0.45330	D	0.998325	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.975;0.972;0.972	D	0.85787	0.1365	10	0.87932	D	0	-16.2893	19.0978	0.93260	0.0:0.0:1.0:0.0	.	159;159;159;159	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	M	159	ENSP00000347312:T159M;ENSP00000441628:T159M;ENSP00000426070:T159M	ENSP00000265193:T159M	T	-	2	0	TRPC7	135720499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	ACG		PASS	0.667	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		49	11	49	11	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180048825	180048825	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:180048825T>C	ENST00000261937.6	-	13	1815	c.1737A>G	c.(1735-1737)caA>caG	p.Q579Q	FLT4_ENST00000393347.3_Silent_p.Q579Q|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.Q579Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	579	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Q579Q(2)|p.Q389Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGTCGGCTTGGCAGCTCA	0.622																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			3	Substitution - coding silent(3)		lung(3)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1735-1737)CAA>CAG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						80.0	84.0	83.0					5																	180048825		2203	4298	6501	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048825T>C	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1737A>G	5.37:g.180048825T>C						FLT4_uc003mlz.3_Silent_p.Q579Q|FLT4_uc003mmb.1_Silent_p.Q112Q|FLT4_uc011dgy.1_Silent_p.Q579Q	p.Q579Q	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1816	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	579			Ig-like C2-type 6.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1737A>G	CCDS4457.1																																																																																				PASS	0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			10	8	10	8	---	---	---	---
PXDC1	221749	broad.mit.edu	37	6	3737340	3737340	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:3737340T>A	ENST00000380283.4	-	3	933	c.439A>T	c.(439-441)Agc>Tgc	p.S147C	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	147							phosphatidylinositol binding (GO:0035091)	p.S147C(1)									CTTTGAAAGCTGGGTTGAATT	0.448																																						uc003mvt.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(439-441)AGC>TGC		hypothetical protein LOC221749							207.0	200.0	202.0					6																	3737340		2203	4300	6503	SO:0001583	missense	221749				cell communication		phosphatidylinositol binding	g.chr6:3737340T>A	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.439A>T	6.37:g.3737340T>A	ENSP00000369636:p.Ser147Cys						p.S147C	NM_183373	NP_899229	Q5TGL8	CF145_HUMAN			3	920	-	Ovarian(93;0.0925)	all_hematologic(90;0.108)	147					A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	c.439A>T	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631419	0.46944	.	.	ENSG00000168994	ENST00000380283	T	0.70164	-0.46	4.91	3.74	0.42951	Phox homologous domain (2);	0.077413	0.85682	D	0.000000	T	0.34687	0.0906	L	0.31207	0.915	0.45852	D	0.998719	B	0.12630	0.006	B	0.09377	0.004	T	0.21075	-1.0256	10	0.39692	T	0.17	-31.9566	9.8638	0.41131	0.0:0.0835:0.0:0.9165	.	147	Q5TGL8	CF145_HUMAN	C	147	ENSP00000369636:S147C	ENSP00000369636:S147C	S	-	1	0	C6orf145	3682339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.698000	0.54771	0.825000	0.34637	0.459000	0.35465	AGC		PASS	0.448	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		11	78	11	78	---	---	---	---
BTN3A1	11119	broad.mit.edu	37	6	26413559	26413559	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:26413559G>T	ENST00000289361.6	+	10	1549	c.1181G>T	c.(1180-1182)aGa>aTa	p.R394I	BTN3A1_ENST00000414912.2_Missense_Mutation_p.R342I	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R394I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATATCAGGGAGACATTACTGG	0.507																																						uc003nhv.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1180-1182)AGA>ATA		butyrophilin, subfamily 3, member A1 isoform a							142.0	149.0	147.0					6																	26413559		2203	4300	6503	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26413559G>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1181G>T	6.37:g.26413559G>T	ENSP00000289361:p.Arg394Ile					BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.R342I|BTN3A1_uc010jqj.2_3'UTR	p.R394I	NM_007048	NP_008979	O00481	BT3A1_HUMAN			10	1549	+			394			Cytoplasmic (Potential).|B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1181G>T	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.128858	0.77549	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.70164	-0.46;-0.46	2.31	0.433	0.16534	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78007	0.4216	H	0.94385	3.53	0.38084	D	0.93676	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.76364	-0.2986	9	0.87932	D	0	.	6.0409	0.19734	0.2981:0.0:0.7019:0.0	.	342;394	E9PGB4;O00481	.;BT3A1_HUMAN	I	394;342	ENSP00000289361:R394I;ENSP00000406667:R342I	ENSP00000289361:R394I	R	+	2	0	BTN3A1	26521538	0.010000	0.17322	0.902000	0.35471	0.771000	0.43674	1.286000	0.33273	0.074000	0.16767	0.609000	0.83330	AGA		PASS	0.507	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			38	26	38	26	---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879772	27879772	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:27879772G>T	ENST00000303324.2	-	1	402	c.326C>A	c.(325-327)tCc>tAc	p.S109Y		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S109Y(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ACATTCTGTGGAACCCAAGGC	0.463																																						uc011dkw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)TCC>TAC		olfactory receptor, family 2, subfamily B,							114.0	102.0	106.0					6																	27879772		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879772G>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.326C>A	6.37:g.27879772G>T	ENSP00000304419:p.Ser109Tyr						p.S109Y	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	326	-			109			Helical; Name=3; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.326C>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311485	0.23821	.	.	ENSG00000168131	ENST00000303324	T	0.00873	5.59	4.52	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	U	0.001444	T	0.01905	0.0060	M	0.85099	2.735	0.09310	N	0.99999	D	0.58970	0.984	P	0.56700	0.804	T	0.20174	-1.0283	10	0.87932	D	0	.	12.8915	0.58073	0.0:0.1659:0.8341:0.0	.	109	Q9GZK3	OR2B2_HUMAN	Y	109	ENSP00000304419:S109Y	ENSP00000304419:S109Y	S	-	2	0	OR2B2	27987751	0.000000	0.05858	0.995000	0.50966	0.031000	0.12232	-0.159000	0.10056	1.168000	0.42723	0.563000	0.77884	TCC		PASS	0.463	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			26	20	26	20	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29574776	29574776	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:29574776C>A	ENST00000377034.4	-	18	2450	c.2115G>T	c.(2113-2115)ctG>ctT	p.L705L	GABBR1_ENST00000377016.4_Silent_p.L643L|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Silent_p.L588L|GABBR1_ENST00000355973.3_Silent_p.L588L	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	705					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L705L(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCCAGGGTTCCAGAGTCTGGA	0.592																																						uc003nmt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|liver(1)|skin(1)	7						c.(2113-2115)CTG>CTT		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						103.0	103.0	103.0					6																	29574776		1511	2709	4220	SO:0001819	synonymous_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29574776C>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2115G>T	6.37:g.29574776C>A						GABBR1_uc003nmp.3_Silent_p.L588L|GABBR1_uc003nms.3_Silent_p.L588L|GABBR1_uc003nmu.3_Silent_p.L643L|GABBR1_uc011dlr.1_Silent_p.L528L	p.L705L	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			18	2451	-			705			Cytoplasmic (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.2115G>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	8.039	0.763465	0.15914	.	.	ENSG00000204681	ENST00000485026	.	.	.	4.27	0.647	0.17796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.8856	8.2938	0.31973	0.0:0.6289:0.0:0.3711	.	.	.	.	X	86	.	.	G	-	1	0	GABBR1	29682755	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	1.380000	0.34351	0.138000	0.18790	0.563000	0.77884	GGA		PASS	0.592	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			5	35	5	35	---	---	---	---
IER3	8870	broad.mit.edu	37	6	30708458	30708458	+	IGR	SNP	G	G	T	rs527661312		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:30708458G>T	ENST00000259874.5	-	0	1244				FLOT1_ENST00000456573.2_Missense_Mutation_p.Q110K|FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000376389.3_Missense_Mutation_p.Q158K|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.Q158K(1)		NS(1)	1						AGTTTTACCTGGTCATCGTGA	0.468																																						uc003nrm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CAG>AAG		flotillin 1							179.0	173.0	175.0					6																	30708458		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30708458G>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30708458G>T						FLOT1_uc011dmr.1_Missense_Mutation_p.Q110K	p.Q158K	NM_005803	NP_005794	O75955	FLOT1_HUMAN			6	636	-			158					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.472C>A	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	G	9.627	1.135275	0.21123	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000445853;ENST00000416018;ENST00000454845	D;D;D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35	4.77	4.77	0.60923	.	0.060387	0.64402	D	0.000002	D	0.82728	0.5100	N	0.17474	0.49	0.48571	D	0.999673	B;B	0.30973	0.302;0.302	B;B	0.36608	0.229;0.145	T	0.80745	-0.1245	10	0.15499	T	0.54	-17.0906	15.6709	0.77274	0.0:0.0:1.0:0.0	.	110;158	B4DVY7;O75955	.;FLOT1_HUMAN	K	158;110;95;158;158;142;158	ENSP00000365569:Q158K;ENSP00000394375:Q110K;ENSP00000395333:Q95K;ENSP00000400615:Q158K;ENSP00000398834:Q158K;ENSP00000412058:Q142K;ENSP00000391341:Q158K	ENSP00000365569:Q158K	Q	-	1	0	FLOT1	30816437	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.169000	0.77578	2.650000	0.89964	0.655000	0.94253	CAG		PASS	0.468	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			5	79	5	79	---	---	---	---
LY6G5C	80741	broad.mit.edu	37	6	31644735	31644735	+	Nonstop_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:31644735T>A	ENST00000383237.4	-	3	455	c.452A>T	c.(451-453)tAg>tTg	p.*151L	LY6G5C_ENST00000375860.2_Nonstop_Mutation_p.*149L|LY6G5C_ENST00000375858.3_Nonstop_Mutation_p.*148L|LY6G5C_ENST00000474395.1_5'UTR			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	0						extracellular region (GO:0005576)		p.*148L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GCAGTCACACTAAGGAGTATA	0.478																																						uc003nvu.1																			1	Nonstop extension(1)		lung(1)		0						c.(442-444)TAG>TTG		lymphocyte antigen 6 complex G5C							105.0	117.0	113.0					6																	31644735		1511	2709	4220	SO:0001578	stop_lost	80741					extracellular region		g.chr6:31644735T>A		CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.452A>T	6.37:g.31644735T>A						LY6G5C_uc003nvw.1_RNA|LY6G5C_uc010jtb.1_RNA	p.*148L	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN			3	443	-			148			UPAR/Ly6.		A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	Nonstop_Mutation	SNP	ENST00000383237.4	37	c.443A>T	CCDS34401.2	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383664	0.42308	.	.	ENSG00000204428	ENST00000375860;ENST00000375858;ENST00000383237	.	.	.	3.42	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.53	0.33329	0.0:0.0:0.0:1.0	.	.	.	.	L	149;148;151	.	.	X	-	2	0	LY6G5C	31752714	0.439000	0.25610	0.013000	0.15412	0.037000	0.13140	1.507000	0.35758	1.797000	0.52628	0.260000	0.18958	TAG		PASS	0.478	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076473.4			8	69	8	69	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47200539	47200539	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:47200539G>T	ENST00000296861.2	-	6	2323	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	644					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.L644M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACAGAGTCCAGGAGGGTCTGG	0.468																																						uc003oyv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1930-1932)CTG>ATG		tumor necrosis factor receptor superfamily,							102.0	114.0	110.0					6																	47200539		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200539G>T	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1930C>A	6.37:g.47200539G>T	ENSP00000296861:p.Leu644Met						p.L644M	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2363	-			644			Cytoplasmic (Potential).		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1930C>A	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586154	0.66105	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.76448	-1.02	5.95	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77534	-0.2552	10	0.87932	D	0	.	9.7922	0.40713	0.165:0.0:0.835:0.0	.	644	O75509	TNR21_HUMAN	M	644;333	ENSP00000296861:L644M	ENSP00000296861:L644M	L	-	1	2	TNFRSF21	47308498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.558000	0.53749	0.783000	0.33636	0.655000	0.94253	CTG		PASS	0.468	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		6	145	6	145	---	---	---	---
PAQR8	85315	broad.mit.edu	37	6	52268753	52268753	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:52268753C>A	ENST00000442253.2	+	2	916	c.742C>A	c.(742-744)Cac>Aac	p.H248N	PAQR8_ENST00000360726.3_Missense_Mutation_p.H248N	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	248					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.H248N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					AGCCTGGTACCACACCCTCCA	0.592																																						uc003pao.3																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)CAC>AAC		progestin and adipoQ receptor family member							107.0	99.0	102.0					6																	52268753		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268753C>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.742C>A	6.37:g.52268753C>A	ENSP00000406197:p.His248Asn						p.H248N	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	916	+	Lung NSC(77;0.0875)		248			Helical; Name=5; (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.742C>A	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449916	0.84101	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.30448	1.53;1.53	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64058	-0.6496	9	.	.	.	-14.1044	18.6884	0.91574	0.0:1.0:0.0:0.0	.	248	Q8TEZ7	MPRB_HUMAN	N	248	ENSP00000406197:H248N;ENSP00000353953:H248N	.	H	+	1	0	PAQR8	52376712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.657000	0.90304	0.655000	0.94253	CAC		PASS	0.592	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	53	5	53	---	---	---	---
GCLC	2729	broad.mit.edu	37	6	53385711	53385711	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:53385711C>A	ENST00000229416.6	-	3	794	c.311G>T	c.(310-312)gGg>gTg	p.G104V	GCLC_ENST00000514004.1_Missense_Mutation_p.G104V	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	104					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.G104V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TCCTGGTGTCCCTTCAATCAT	0.458																																						uc003pbw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(310-312)GGG>GTG		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						219.0	220.0	220.0					6																	53385711		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53385711C>A	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.311G>T	6.37:g.53385711C>A	ENSP00000229416:p.Gly104Val					GCLC_uc003pbx.2_Missense_Mutation_p.G104V	p.G104V	NM_001498	NP_001489	P48506	GSH1_HUMAN			3	699	-	Lung NSC(77;0.0137)		104					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.311G>T	CCDS4952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.889371|4.889371	0.91889|0.91889	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000229416;ENST00000514004;ENST00000514933|ENST00000513939	T;T;T|.	0.72282|.	-0.58;-0.58;-0.64|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|.	0.84179|.	0.5415|.	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|.	0.87610|.	0.2503|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	18.9391|18.9391	0.92598|0.92598	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	104|.	P48506|.	GSH1_HUMAN|.	V|X	104;104;51|92	ENSP00000229416:G104V;ENSP00000421908:G104V;ENSP00000423615:G51V|.	ENSP00000229416:G104V|ENSP00000424211:G92X	G|G	-|-	2|1	0|0	GCLC|GCLC	53493670|53493670	1.000000|1.000000	0.71417|0.71417	0.904000|0.904000	0.35570|0.35570	0.947000|0.947000	0.59692|0.59692	6.052000|6.052000	0.71080|0.71080	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	GGG|GGA		PASS	0.458	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			8	264	8	264	---	---	---	---
LRRC1	55227	broad.mit.edu	37	6	53784346	53784346	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:53784346G>T	ENST00000370888.1	+	12	1434	c.1157G>T	c.(1156-1158)tGg>tTg	p.W386L	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	386						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.W386L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AAGGCTCTGTGGCTATCTGAC	0.418																																						uc003pcd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1156-1158)TGG>TTG		leucine rich repeat containing 1							87.0	81.0	83.0					6																	53784346		1932	4143	6075	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53784346G>T	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1157G>T	6.37:g.53784346G>T	ENSP00000359925:p.Trp386Leu						p.W386L	NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	12	1434	+	Lung NSC(77;0.0147)		386			LRR 17.		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.1157G>T	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935757	0.92458	.	.	ENSG00000137269	ENST00000370888	T	0.74737	-0.87	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.76315	-0.3004	10	0.45353	T	0.12	.	18.8081	0.92047	0.0:0.0:1.0:0.0	.	386	Q9BTT6	LRRC1_HUMAN	L	386	ENSP00000359925:W386L	ENSP00000359925:W386L	W	+	2	0	LRRC1	53892305	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	TGG		PASS	0.418	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		6	72	6	72	---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82950160	82950160	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:82950160A>C	ENST00000306270.7	-	2	593	c.44T>G	c.(43-45)cTg>cGg	p.L15R	IBTK_ENST00000510291.1_Missense_Mutation_p.L15R|IBTK_ENST00000503631.1_Missense_Mutation_p.L15R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	15					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.L15R(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGCATGCTTCAGGGATCGACA	0.403																																						uc003pjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(43-45)CTG>CGG		inhibitor of Bruton's tyrosine kinase							141.0	135.0	137.0					6																	82950160		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82950160A>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.44T>G	6.37:g.82950160A>C	ENSP00000305721:p.Leu15Arg					IBTK_uc011dyv.1_Missense_Mutation_p.L15R|IBTK_uc011dyw.1_Missense_Mutation_p.L15R|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.L15R	p.L15R	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	2	571	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	15					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.44T>G	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	A	6.773	0.511604	0.12944	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.27256	1.99;1.68;2.0	5.33	4.17	0.49024	.	0.364206	0.29515	N	0.011935	T	0.10809	0.0264	M	0.63428	1.95	0.40572	D	0.981315	B;B;B;B	0.16396	0.011;0.017;0.012;0.017	B;B;B;B	0.16289	0.005;0.012;0.015;0.012	T	0.07121	-1.0789	10	0.20519	T	0.43	-6.0603	6.7375	0.23417	0.7884:0.0:0.0747:0.1369	.	15;15;15;15	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	R	15	ENSP00000305721:L15R;ENSP00000422762:L15R;ENSP00000426405:L15R	ENSP00000305721:L15R	L	-	2	0	IBTK	83006879	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.250000	0.43178	2.144000	0.66660	0.459000	0.35465	CTG		PASS	0.403	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		7	90	7	90	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90572028	90572028	+	RNA	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:90572028G>T	ENST00000551025.1	+	0	2037									caspase 8 associated protein 2									p.K200N(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATCTGGAAAAGGAAGGAAAAC	0.383																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(598-600)AAG>AAT		caspase 8 associated protein 2							209.0	195.0	199.0					6																	90572028		1899	4119	6018			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572028G>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572028G>T						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K200N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K200N	p.K200N	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	796	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	200						Missense_Mutation	SNP	ENST00000551025.1	37	c.600G>T																																																																																					PASS	0.383	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		7	203	7	203	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97679333	97679333	+	Missense_Mutation	SNP	C	C	A	rs138260692		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:97679333C>A	ENST00000275053.4	-	13	1763	c.1498G>T	c.(1498-1500)Ggc>Tgc	p.G500C	MMS22L_ENST00000369251.2_Missense_Mutation_p.G460C	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	500					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.G500C(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGATGAGGGCCATTGCTCTTC	0.348																																						uc003ppb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1498-1500)GGC>TGC		hypothetical protein LOC253714							106.0	92.0	97.0					6																	97679333		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97679333C>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1498G>T	6.37:g.97679333C>A	ENSP00000275053:p.Gly500Cys					C6orf167_uc011eaf.1_Missense_Mutation_p.G460C|C6orf167_uc010kcn.1_Missense_Mutation_p.G274C	p.G500C	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	13	1764	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	500					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1498G>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566775	0.65651	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.37411	1.2;1.2	4.68	4.68	0.58851	.	0.139183	0.47455	D	0.000223	T	0.48295	0.1492	M	0.66939	2.045	0.46336	D	0.998995	D;D	0.71674	0.998;0.994	D;P	0.63192	0.912;0.847	T	0.53975	-0.8362	10	0.87932	D	0	-4.6649	16.1445	0.81555	0.0:1.0:0.0:0.0	.	460;500	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	C	500;460	ENSP00000275053:G500C;ENSP00000358254:G460C	ENSP00000275053:G500C	G	-	1	0	MMS22L	97786054	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	3.896000	0.56266	2.298000	0.77334	0.655000	0.94253	GGC		PASS	0.348	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		5	16	5	16	---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100062259	100062259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:100062259C>A	ENST00000369215.4	+	4	2053	c.1748C>A	c.(1747-1749)tCg>tAg	p.S583*		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	583					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S583*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AAGCTGTACTCGCGCAAGTAT	0.667																																						uc003pqg.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1747-1749)TCG>TAG		PR domain containing 13							31.0	39.0	36.0					6																	100062259		2115	4228	6343	SO:0001587	stop_gained	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062259C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1748C>A	6.37:g.100062259C>A	ENSP00000358217:p.Ser583*						p.S583*	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2009	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	583			C2H2-type 2.		Q5TGC1|Q5TGC2	Nonsense_Mutation	SNP	ENST00000369215.4	37	c.1748C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	40	7.952113	0.98580	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	.	.	.	4.96	4.09	0.47781	.	0.000000	0.36740	N	0.002430	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4301	13.3121	0.60386	0.0:0.9222:0.0:0.0778	.	.	.	.	X	583;593	.	ENSP00000358216:S593X	S	+	2	0	PRDM13	100168980	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.888000	0.69758	1.230000	0.43646	0.561000	0.74099	TCG		PASS	0.667	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			13	13	13	13	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100896428	100896428	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:100896428C>T	ENST00000369208.3	-	7	1452	c.670G>A	c.(670-672)Gag>Aag	p.E224K	SIM1_ENST00000262901.4_Missense_Mutation_p.E224K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	224	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E224K(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCTTGATCTCCGTGACGGCG	0.617																																						uc003pqj.3																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(4)	4						c.(670-672)GAG>AAG		single-minded homolog 1							62.0	52.0	56.0					6																	100896428		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896428C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.670G>A	6.37:g.100896428C>T	ENSP00000358210:p.Glu224Lys					SIM1_uc010kcu.2_Missense_Mutation_p.E224K	p.E224K	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	6	877	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	224			PAS 2.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.670G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449992	0.96205	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.31247	1.5;1.5	5.57	4.7	0.59300	PAS (1);	0.090052	0.85682	D	0.000000	T	0.58323	0.2114	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72912	-0.4148	10	0.87932	D	0	.	14.0828	0.64937	0.0:0.9283:0.0:0.0717	.	224	P81133	SIM1_HUMAN	K	224	ENSP00000358210:E224K;ENSP00000262901:E224K	ENSP00000262901:E224K	E	-	1	0	SIM1	101003149	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	1.351000	0.45789	0.655000	0.94253	GAG		PASS	0.617	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		10	20	10	20	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112486384	112486384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:112486384G>T	ENST00000230538.7	-	13	2043	c.1646C>A	c.(1645-1647)tCa>tAa	p.S549*	LAMA4_ENST00000424408.2_Nonsense_Mutation_p.S542*|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.S542*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.S542*|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	549	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.S542*(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATCAAGTTCTGAAAGAGTTAG	0.433																																						uc003pvu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1645-1647)TCA>TAA		laminin, alpha 4 isoform 1 precursor							149.0	137.0	141.0					6																	112486384		2203	4300	6503	SO:0001587	stop_gained	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112486384G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1646C>A	6.37:g.112486384G>T	ENSP00000230538:p.Ser549*					LAMA4_uc003pvv.2_Nonsense_Mutation_p.S542*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.S542*	p.S549*	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	13	1955	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	549			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	ENST00000230538.7	37	c.1646C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	41	8.933960	0.99008	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.04	1.62	0.23740	.	1.204890	0.05685	N	0.591081	.	.	.	.	.	.	0.42217	D	0.99183	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	2.525	0.04689	0.3623:0.0:0.4097:0.228	.	.	.	.	X	549;542;542;542	.	ENSP00000230538:S549X	S	-	2	0	LAMA4	112593077	0.971000	0.33674	0.760000	0.31359	0.267000	0.26476	1.336000	0.33850	-0.042000	0.13535	0.484000	0.47621	TCA		PASS	0.433	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	63	6	63	---	---	---	---
FRK	2444	broad.mit.edu	37	6	116381198	116381198	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:116381198T>C	ENST00000606080.1	-	1	723	c.277A>G	c.(277-279)Agt>Ggt	p.S93G		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	93	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S93G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGTTGCTGACTGGAGCCATCT	0.473																																						uc003pwi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(277-279)AGT>GGT		fyn-related kinase							140.0	144.0	142.0					6																	116381198		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116381198T>C	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.277A>G	6.37:g.116381198T>C	ENSP00000476145:p.Ser93Gly						p.S93G	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	1	724	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	93			SH3.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.277A>G	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	T	1.824	-0.471540	0.04445	.	.	ENSG00000111816	ENST00000368626	T	0.74106	-0.81	4.59	-0.987	0.10249	Src homology-3 domain (3);	0.733379	0.12135	N	0.496374	T	0.22475	0.0542	N	0.17082	0.46	0.20703	N	0.999868	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	10	0.05436	T	0.98	.	4.5848	0.12277	0.0:0.4501:0.1527:0.3972	.	93	P42685	FRK_HUMAN	G	93	ENSP00000357615:S93G	ENSP00000357615:S93G	S	-	1	0	FRK	116487891	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.073000	0.11468	-0.325000	0.08577	0.533000	0.62120	AGT		PASS	0.473	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		62	118	62	118	---	---	---	---
KPNA5	3841	broad.mit.edu	37	6	117043288	117043288	+	Splice_Site	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:117043288G>T	ENST00000368564.1	+	9	904		c.e9-1		KPNA5_ENST00000356348.1_Splice_Site			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.?(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTCCCTTACAGGTTTCACCTT	0.343																																						uc003pxh.2																			1	Unknown(1)		lung(1)	breast(3)|skin(1)	4						c.e9-1		karyopherin alpha 5							128.0	113.0	118.0					6																	117043288		2203	4300	6503	SO:0001630	splice_region_variant	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117043288G>T	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.757-1G>T	6.37:g.117043288G>T							p.V253_splice	NM_002269	NP_002260	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	9	888	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)						B2RAI5|Q86X23	Splice_Site	SNP	ENST00000368564.1	37	c.757_splice	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763503	0.89932	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KPNA5	117149981	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.115000	0.94336	2.755000	0.94549	0.650000	0.86243	.		PASS	0.343	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	Intron	4	27	4	27	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128222064	128222064	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:128222064A>G	ENST00000368248.2	-	1	162	c.14T>C	c.(13-15)cTg>cCg	p.L5P	THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_Missense_Mutation_p.L5P	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	5	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L5P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GAATTCTTCCAGTGATAATGC	0.493																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(13-15)CTG>CCG		thymocyte selection pathway associated isoform							242.0	236.0	238.0					6																	128222064		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128222064A>G	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.14T>C	6.37:g.128222064A>G	ENSP00000357231:p.Leu5Pro					THEMIS_uc011ebt.1_Missense_Mutation_p.L5P|THEMIS_uc010kfb.2_Intron	p.L5P	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			2	333	-			5			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.14T>C	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354700	0.61293	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.32515	1.53;1.45	5.55	5.55	0.83447	.	0.205916	0.31760	N	0.007104	T	0.46112	0.1376	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.961;0.997	T	0.52631	-0.8550	10	0.87932	D	0	-0.9309	12.0598	0.53557	1.0:0.0:0.0:0.0	.	5;5	F5H1J9;Q8N1K5	.;THMS1_HUMAN	P	5	ENSP00000439594:L5P;ENSP00000357231:L5P	ENSP00000357231:L5P	L	-	2	0	THEMIS	128263757	1.000000	0.71417	0.970000	0.41538	0.511000	0.34104	4.922000	0.63404	2.108000	0.64289	0.482000	0.46254	CTG		PASS	0.493	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		24	72	24	72	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129712691	129712691	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:129712691C>T	ENST00000421865.2	+	36	5176	c.5127C>T	c.(5125-5127)gcC>gcT	p.A1709A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1709	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.A1709A(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGACGAGGCCTTTGAGAGAA	0.363																																						uc003qbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(5125-5127)GCC>GCT		laminin alpha 2 subunit isoform a precursor							101.0	113.0	109.0					6																	129712691		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129712691C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5127C>T	6.37:g.129712691C>T						LAMA2_uc003qbo.2_Silent_p.A1709A	p.A1709A	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	36	5232	+			1709			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.5127C>T	CCDS5138.1																																																																																				PASS	0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			36	95	36	95	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152734570	152734570	+	Silent	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:152734570A>G	ENST00000367255.5	-	42	6748	c.6147T>C	c.(6145-6147)gaT>gaC	p.D2049D	SYNE1_ENST00000448038.1_Silent_p.D2056D|SYNE1_ENST00000341594.5_Silent_p.D2086D|SYNE1_ENST00000423061.1_Silent_p.D2056D|SYNE1_ENST00000265368.4_Silent_p.D2049D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2049					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D2049D(2)|p.D2056D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAAAGCTACATCTTTCTGGG	0.403										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(6145-6147)GAT>GAC		spectrin repeat containing, nuclear envelope 1							228.0	209.0	216.0					6																	152734570		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152734570A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6147T>C	6.37:g.152734570A>G		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.D2056D|SYNE1_uc003qou.3_Silent_p.D2049D|SYNE1_uc010kjb.1_Silent_p.D2032D	p.D2049D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	42	6749	-		Ovarian(120;0.0955)	2049			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.6147T>C	CCDS5236.2																																																																																				PASS	0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	53	28	53	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158923577	158923577	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:158923577A>G	ENST00000367097.3	+	13	4239	c.2882A>G	c.(2881-2883)tAt>tGt	p.Y961C	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	961					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y961C(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCACCCCCGTATCCTGAAATT	0.662																																						uc003qrf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2881-2883)TAT>TGT		tubby like protein 4 isoform 1							30.0	33.0	32.0					6																	158923577		2203	4299	6502	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923577A>G		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2882A>G	6.37:g.158923577A>G	ENSP00000356064:p.Tyr961Cys					TULP4_uc003qrg.2_Intron	p.Y961C	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4239	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	961					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2882A>G	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191006	0.58017	.	.	ENSG00000130338	ENST00000367097	T	0.72615	-0.67	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80487	-0.1361	10	0.87932	D	0	-13.886	14.0599	0.64793	1.0:0.0:0.0:0.0	.	961	Q9NRJ4	TULP4_HUMAN	C	961	ENSP00000356064:Y961C	ENSP00000356064:Y961C	Y	+	2	0	TULP4	158843565	1.000000	0.71417	0.272000	0.24630	0.873000	0.50193	8.356000	0.90085	1.782000	0.52362	0.459000	0.35465	TAT		PASS	0.662	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		10	11	10	11	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161470015	161470015	+	Silent	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:161470015A>T	ENST00000392142.4	+	3	859	c.711A>T	c.(709-711)tcA>tcT	p.S237S	MAP3K4_ENST00000366920.2_Silent_p.S237S|MAP3K4_ENST00000348824.7_Silent_p.S237S|MAP3K4_ENST00000366919.2_Silent_p.S237S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	237					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S237S(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGCTTACCTCAGTCTCAAAGA	0.433																																						uc003qtn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(709-711)TCA>TCT		mitogen-activated protein kinase kinase kinase 4							41.0	41.0	41.0					6																	161470015		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470015A>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.711A>T	6.37:g.161470015A>T						MAP3K4_uc010kkc.1_Silent_p.S237S|MAP3K4_uc003qto.2_Silent_p.S237S|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	p.S237S	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	853	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	237					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.711A>T	CCDS34565.1																																																																																				PASS	0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			17	22	17	22	---	---	---	---
AP5Z1	9907	broad.mit.edu	37	7	4820834	4820834	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:4820834T>A	ENST00000348624.4	+	2	164	c.70T>A	c.(70-72)Ttc>Atc	p.F24I	AP5Z1_ENST00000401897.1_Missense_Mutation_p.F24I	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	24					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F735I(1)									GCTGAAGAAGTTCTGTTCCCG	0.542																																						uc003sne.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(70-72)TTC>ATC		hypothetical protein LOC9907							59.0	64.0	62.0					7																	4820834		1940	4159	6099	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4820834T>A	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.70T>A	7.37:g.4820834T>A	ENSP00000297562:p.Phe24Ile					KIAA0415_uc010ksp.2_RNA	p.F24I	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	2	153	+		Ovarian(82;0.0175)	24					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.70T>A	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642821	0.87859	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.61859	0.07;0.44	5.43	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.75264	2.295	0.54753	D	0.999988	D	0.60160	0.987	P	0.57620	0.824	T	0.65014	-0.6271	10	0.66056	D	0.02	.	6.8275	0.23891	0.0:0.078:0.1506:0.7713	.	24	O43299	K0415_HUMAN	I	24	ENSP00000297562:F24I;ENSP00000384980:F24I	ENSP00000297562:F24I	F	+	1	0	KIAA0415	4787360	0.997000	0.39634	0.454000	0.27019	0.944000	0.59088	2.684000	0.46951	0.334000	0.23590	0.533000	0.62120	TTC		PASS	0.542	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			29	29	29	29	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21521591	21521591	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:21521591G>A	ENST00000222584.3	+	5	2175	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	653					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.G653R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCATATTGAAGGATGTGGTAA	0.373																																						uc003sva.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1957-1959)GGA>AGA		Sp4 transcription factor							143.0	141.0	142.0					7																	21521591		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21521591G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1957G>A	7.37:g.21521591G>A	ENSP00000222584:p.Gly653Arg					SP4_uc003svb.2_Missense_Mutation_p.G340R	p.G653R	NM_003112	NP_003103	Q02446	SP4_HUMAN			5	2138	+			653			C2H2-type 1.		O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1957G>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480771	0.84747	.	.	ENSG00000105866	ENST00000222584	T	0.56941	0.43	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.112860	0.64402	D	0.000010	T	0.71609	0.3360	M	0.87328	2.875	0.58432	D	0.999995	D	0.58620	0.983	P	0.59056	0.851	T	0.76948	-0.2770	10	0.87932	D	0	.	12.6552	0.56784	0.0757:0.0:0.9243:0.0	.	653	Q02446	SP4_HUMAN	R	653	ENSP00000222584:G653R	ENSP00000222584:G653R	G	+	1	0	SP4	21488116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	2.567000	0.86603	0.591000	0.81541	GGA		PASS	0.373	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		8	69	8	69	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23207573	23207573	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:23207573C>G	ENST00000339077.5	+	9	1539	c.1296C>G	c.(1294-1296)atC>atG	p.I432M	KLHL7_ENST00000542558.1_Missense_Mutation_p.I207M|KLHL7_ENST00000539124.1_Missense_Mutation_p.I356M|KLHL7_ENST00000409689.1_Missense_Mutation_p.I384M|KLHL7_ENST00000545443.1_Missense_Mutation_p.I410M|KLHL7_ENST00000322231.7_Missense_Mutation_p.I410M	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	432					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I432M(1)|p.I410M(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGCCTAATCTATGTTTGTG	0.443																																						uc003svs.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1294-1296)ATC>ATG		kelch-like 7 isoform 1							138.0	135.0	136.0					7																	23207573		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23207573C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1296C>G	7.37:g.23207573C>G	ENSP00000343273:p.Ile432Met					KLHL7_uc003svr.3_Missense_Mutation_p.I410M|KLHL7_uc011jys.1_Missense_Mutation_p.I356M|KLHL7_uc011jyt.1_Missense_Mutation_p.I207M|KLHL7_uc003svt.2_Missense_Mutation_p.I384M|KLHL7_uc011jyv.1_Intron	p.I432M	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			9	1589	+			432			Kelch 4.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1296C>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894215	0.72639	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.69	5.69	0.88448	Kelch-type beta propeller (1);	0.048284	0.85682	D	0.000000	D	0.90376	0.6988	M	0.76002	2.32	0.48087	D	0.999587	P;D	0.62365	0.867;0.991	P;D	0.64237	0.708;0.923	D	0.90743	0.4651	10	0.72032	D	0.01	.	10.8441	0.46733	0.0:0.8862:0.0:0.1138	.	432;410	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	M	273;410;432;356;207;384;410	ENSP00000322958:I410M;ENSP00000343273:I432M;ENSP00000441136:I356M;ENSP00000442367:I207M;ENSP00000386263:I384M;ENSP00000442366:I410M	ENSP00000322958:I410M	I	+	3	3	KLHL7	23174098	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.299000	0.33424	2.683000	0.91414	0.591000	0.81541	ATC		PASS	0.443	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		31	58	31	58	---	---	---	---
HOXA2	3199	broad.mit.edu	37	7	27141032	27141032	+	Silent	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:27141032A>T	ENST00000222718.5	-	2	754	c.444T>A	c.(442-444)acT>acA	p.T148T	HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	148					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T148T(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGGTGTAAGCAGTTCTCAGGC	0.537																																						uc003syh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(442-444)ACT>ACA		homeobox A2							27.0	28.0	28.0					7																	27141032		2203	4299	6502	SO:0001819	synonymous_variant	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27141032A>T		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.444T>A	7.37:g.27141032A>T							p.T148T	NM_006735	NP_006726	O43364	HXA2_HUMAN			2	719	-			148			Homeobox.		A1L4K3|B2RMW3	Silent	SNP	ENST00000222718.5	37	c.444T>A	CCDS5403.1																																																																																				PASS	0.537	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			11	10	11	10	---	---	---	---
PPP1R17	10842	broad.mit.edu	37	7	31736665	31736665	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:31736665G>C	ENST00000342032.3	+	4	950	c.322G>C	c.(322-324)Gac>Cac	p.D108H	PPP1R17_ENST00000409146.3_Missense_Mutation_p.D57H|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	108					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.D108H(1)									TCATAACACTGACCTGGAACA	0.458																																						uc003tcl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(322-324)GAC>CAC		G-substrate isoform 1							111.0	102.0	105.0					7																	31736665		2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31736665G>C	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.322G>C	7.37:g.31736665G>C	ENSP00000340125:p.Asp108His					C7orf16_uc011kaf.1_Missense_Mutation_p.D57H	p.D108H	NM_006658	NP_006649	O96001	GSUB_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		4	480	+			108					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.322G>C	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350161	0.82132	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.37584	1.19;1.24	5.63	5.63	0.86233	.	0.073789	0.64402	D	0.000020	T	0.59088	0.2168	L	0.59436	1.845	0.48395	D	0.999646	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.59069	-0.7523	10	0.87932	D	0	-15.5513	19.642	0.95762	0.0:0.0:1.0:0.0	.	57;108	B4DE58;O96001	.;PPR17_HUMAN	H	108;57	ENSP00000340125:D108H;ENSP00000386459:D57H	ENSP00000340125:D108H	D	+	1	0	C7orf16	31703190	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.679000	0.74513	2.802000	0.96397	0.563000	0.77884	GAC		PASS	0.458	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		29	59	29	59	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47979871	47979871	+	Silent	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:47979871A>G	ENST00000289672.2	-	3	254	c.204T>C	c.(202-204)tgT>tgC	p.C68C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	68					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.C68C(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGGACAGCCACACTTCCCAT	0.473																																						uc003tny.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(202-204)TGT>TGC		polycystin-1L1							138.0	120.0	126.0					7																	47979871		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47979871A>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.204T>C	7.37:g.47979871A>G							p.C68C	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			3	204	-			68			Extracellular (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.204T>C	CCDS34633.1																																																																																				PASS	0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		38	37	38	37	---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72756882	72756882	+	Silent	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:72756882A>T	ENST00000252037.4	+	8	1038	c.969A>T	c.(967-969)acA>acT	p.T323T	FKBP6_ENST00000413573.2_Silent_p.T293T|FKBP6_ENST00000431982.2_Silent_p.T318T	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	323					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.T323T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATGGTTCTACAGCAGGAGAAA	0.537											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tya.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(967-969)ACA>ACT		FK506 binding protein 6 isoform a							101.0	105.0	104.0					7																	72756882		2026	4188	6214	SO:0001819	synonymous_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72756882A>T	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.969A>T	7.37:g.72756882A>T			OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	FKBP6_uc003twz.2_Silent_p.T293T|FKBP6_uc011kew.1_Silent_p.T318T	p.T323T	NM_003602	NP_003593	O75344	FKBP6_HUMAN			8	1101	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	323					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	c.969A>T	CCDS43595.1																																																																																				PASS	0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		49	68	49	68	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77539631	77539631	+	Silent	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:77539631A>G	ENST00000248550.7	+	8	757	c.681A>G	c.(679-681)acA>acG	p.T227T	PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000415251.2_Silent_p.T189T|PHTF2_ENST00000307305.8_Silent_p.T189T|PHTF2_ENST00000424760.1_Silent_p.T189T|PHTF2_ENST00000422959.2_Silent_p.T193T|PHTF2_ENST00000416283.2_Silent_p.T193T|PHTF2_ENST00000450574.1_Silent_p.T193T|PHTF2_ENST00000275575.7_Silent_p.T189T			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T227T(1)|p.T193T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CAGATAACACACAAGAGGGAG	0.448																																						uc003ugs.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(679-681)ACA>ACG		putative homeodomain transcription factor 2							124.0	123.0	123.0					7																	77539631		2002	4165	6167	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77539631A>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.681A>G	7.37:g.77539631A>G						PHTF2_uc003ugo.3_Silent_p.T189T|PHTF2_uc003ugp.2_Silent_p.T189T|PHTF2_uc003ugq.3_Silent_p.T189T|PHTF2_uc010ldv.2_Silent_p.T189T|PHTF2_uc003ugr.3_Silent_p.T193T|PHTF2_uc003ugt.3_Silent_p.T193T|PHTF2_uc003ugu.3_Silent_p.T189T|PHTF2_uc003ugv.2_Silent_p.T52T|PHTF2_uc010ldw.1_Silent_p.T52T	p.T227T	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			8	807	+			227					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.681A>G																																																																																					PASS	0.448	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		45	49	45	49	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87196249	87196249	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:87196249C>A	ENST00000265724.3	-	7	799	c.382G>T	c.(382-384)Gct>Tct	p.A128S	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	128	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A128S(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATGTAAGCAGCAACCAGCACC	0.403																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(382-384)GCT>TCT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						104.0	95.0	98.0					7																	87196249		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87196249C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.382G>T	7.37:g.87196249C>A	ENSP00000265724:p.Ala128Ser					ABCB1_uc011khc.1_Intron	p.A128S	NM_000927	NP_000918	P08183	MDR1_HUMAN			7	800	-	Esophageal squamous(14;0.00164)		128			ABC transmembrane type-1 1.|Helical; (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.382G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548051	0.65311	.	.	ENSG00000085563	ENST00000265724	T	0.80566	-1.39	5.54	5.54	0.83059	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.408964	0.28465	N	0.015249	D	0.83514	0.5271	L	0.41710	1.295	0.80722	D	1	P	0.43412	0.806	P	0.56474	0.799	T	0.83303	-0.0027	10	0.49607	T	0.09	-10.0995	15.024	0.71653	0.0:0.8582:0.1418:0.0	.	128	P08183	MDR1_HUMAN	S	128	ENSP00000265724:A128S	ENSP00000265724:A128S	A	-	1	0	ABCB1	87034185	0.988000	0.35896	0.954000	0.39281	0.977000	0.68977	3.790000	0.55461	2.615000	0.88500	0.655000	0.94253	GCT		PASS	0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		9	53	9	53	---	---	---	---
CLDN12	9069	broad.mit.edu	37	7	90042424	90042424	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:90042424C>G	ENST00000287916.4	+	3	721	c.434C>G	c.(433-435)aCt>aGt	p.T145S	CLDN12_ENST00000394605.2_Missense_Mutation_p.T145S|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000535571.1_Missense_Mutation_p.T145S	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	145					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T145S(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTGGCAGGTACTGTGAGCCTC	0.488																																						uc003ukp.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(433-435)ACT>AGT		claudin 12							159.0	147.0	151.0					7																	90042424		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042424C>G	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.434C>G	7.37:g.90042424C>G	ENSP00000287916:p.Thr145Ser					CLDN12_uc003ukq.2_Missense_Mutation_p.T145S|CLDN12_uc010leq.2_Missense_Mutation_p.T145S|CLDN12_uc003ukr.2_Missense_Mutation_p.T145S|CLDN12_uc003uks.2_Missense_Mutation_p.T145S	p.T145S	NM_012129	NP_036261	P56749	CLD12_HUMAN			5	1070	+			145			Helical; (Potential).		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.434C>G	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	C	9.208	1.030135	0.19512	.	.	ENSG00000157224	ENST00000422604;ENST00000416322;ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	T;T;T;T;T;T	0.73363	-0.56;-0.74;-0.74;-0.74;-0.52;-0.74	5.45	0.15	0.14883	.	0.272379	0.42053	D	0.000771	T	0.48960	0.1529	N	0.14661	0.345	0.22858	N	0.998641	B	0.06786	0.001	B	0.04013	0.001	T	0.34403	-0.9830	10	0.56958	D	0.05	-9.0432	1.863	0.03193	0.132:0.4083:0.1298:0.3299	.	145	P56749	CLD12_HUMAN	S	145	ENSP00000411399:T145S;ENSP00000419053:T145S;ENSP00000287916:T145S;ENSP00000443476:T145S;ENSP00000378102:T145S;ENSP00000378103:T145S	ENSP00000287916:T145S	T	+	2	0	CLDN12	89880360	0.605000	0.26941	0.989000	0.46669	0.809000	0.45718	1.118000	0.31246	0.119000	0.18210	-0.136000	0.14681	ACT		PASS	0.488	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		11	68	11	68	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94174935	94174935	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:94174935C>T	ENST00000297273.4	+	12	1842	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	519						integral component of membrane (GO:0016021)		p.P519S(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTTTGTCCCCTTGGTCAC	0.328																																						uc003uni.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1555-1557)CCC>TCC		CAS1 domain containing 1 precursor							199.0	168.0	178.0					7																	94174935		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94174935C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1555C>T	7.37:g.94174935C>T	ENSP00000297273:p.Pro519Ser					CASD1_uc003unj.3_Missense_Mutation_p.P519S	p.P519S	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	1782	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		519			Helical; (Potential).		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1555C>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891106	0.91889	.	.	ENSG00000127995	ENST00000297273	T	0.70164	-0.46	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88732	0.3237	10	0.87932	D	0	.	18.7033	0.91629	0.0:1.0:0.0:0.0	.	519;519	Q8WZ77;Q96PB1	.;CASD1_HUMAN	S	519	ENSP00000297273:P519S	ENSP00000297273:P519S	P	+	1	0	CASD1	94012871	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.765000	0.85310	2.489000	0.83994	0.491000	0.48974	CCC		PASS	0.328	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		29	21	29	21	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100552224	100552224	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:100552224T>C	ENST00000319509.7	+	1	975	c.975T>C	c.(973-975)acT>acC	p.T325T				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1990	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.T325T(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTCCAGGAACTATAACAATTA	0.493																																						uc003uxk.1																			2	Substitution - coding silent(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							432.0	427.0	428.0					7																	100552224		876	1991	2867	SO:0001819	synonymous_variant	0							g.chr7:100552224T>C	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.975T>C	7.37:g.100552224T>C						uc003uxl.1_Silent_p.T225T								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.1475T>C																																																																																					PASS	0.493	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		77	304	77	304	---	---	---	---
ZNHIT1	10467	broad.mit.edu	37	7	100866982	100866982	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:100866982A>G	ENST00000305105.2	+	4	830	c.302A>G	c.(301-303)tAc>tGc	p.Y101C	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	101	Interaction with NR1D2.				negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)	p.Y101C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCCTAACTACCTGACGGCC	0.682																																						uc003uye.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(301-303)TAC>TGC		zinc finger, HIT domain containing 1							48.0	54.0	52.0					7																	100866982		2203	4300	6503	SO:0001583	missense	10467						metal ion binding|protein binding	g.chr7:100866982A>G	AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"""Zinc fingers, HIT-type"""	21688	protein-coding gene	gene with protein product	"""putative cyclin G1 interacting protein"""		"""zinc finger protein, subfamily 4A (HIT domain containing), member 1"", ""zinc finger, HIT domain containing 1"""	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.302A>G	7.37:g.100866982A>G	ENSP00000304593:p.Tyr101Cys					ZNHIT1_uc003uyf.2_RNA	p.Y101C	NM_006349	NP_006340	O43257	ZNHI1_HUMAN			4	794	+	Lung NSC(181;0.168)|all_lung(186;0.215)		101					Q6IB12	Missense_Mutation	SNP	ENST00000305105.2	37	c.302A>G	CCDS5716.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477987	0.84747	.	.	ENSG00000106400	ENST00000305105	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	M	0.80982	2.52	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.81202	-0.1040	9	0.87932	D	0	-33.6006	13.1339	0.59399	1.0:0.0:0.0:0.0	.	101	O43257	ZNHI1_HUMAN	C	101	.	ENSP00000304593:Y101C	Y	+	2	0	ZNHIT1	100653702	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.293000	0.89932	2.003000	0.58678	0.448000	0.29417	TAC		PASS	0.682	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		17	21	17	21	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107323902	107323902	+	Silent	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:107323902G>C	ENST00000265715.3	+	8	1145	c.921G>C	c.(919-921)acG>acC	p.T307T		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	307					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.T307T(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TATTTCAGACGATAATTGCTA	0.348									Pendred syndrome																													uc003vep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(919-921)ACG>ACC		pendrin							82.0	83.0	83.0					7																	107323902		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107323902G>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.921G>C	7.37:g.107323902G>C							p.T307T	NM_000441	NP_000432	O43511	S26A4_HUMAN			8	1145	+			307			Helical; (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.921G>C	CCDS5746.1																																																																																				PASS	0.348	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		19	35	19	35	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519573	113519573	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:113519573C>T	ENST00000284601.3	-	4	1642	c.1574G>A	c.(1573-1575)gGt>gAt	p.G525D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	525					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.G525D(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCATTAACACCTAAATATAT	0.353																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1573-1575)GGT>GAT		protein phosphatase 1, regulatory (inhibitor)							71.0	66.0	68.0					7																	113519573		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519573C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1574G>A	7.37:g.113519573C>T	ENSP00000284601:p.Gly525Asp						p.G525D	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1605	-			525					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1574G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155156	0.21371	.	.	ENSG00000154415	ENST00000284601	T	0.19532	2.14	5.73	-1.52	0.08637	.	1.224680	0.05505	N	0.559180	T	0.11623	0.0283	N	0.21373	0.66	0.09310	N	1	B	0.21606	0.058	B	0.17098	0.017	T	0.29610	-1.0006	10	0.25751	T	0.34	-0.2089	2.2462	0.04032	0.1239:0.3274:0.1211:0.4276	.	525	Q16821	PPR3A_HUMAN	D	525	ENSP00000284601:G525D	ENSP00000284601:G525D	G	-	2	0	PPP1R3A	113306809	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.132000	0.03235	-0.370000	0.08016	-0.136000	0.14681	GGT		PASS	0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		12	23	12	23	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114271687	114271687	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:114271687C>T	ENST00000393494.2	+	6	981	c.702C>T	c.(700-702)ctC>ctT	p.L234L	FOXP2_ENST00000393489.3_Silent_p.L142L|FOXP2_ENST00000350908.4_Silent_p.L234L|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.L142L|FOXP2_ENST00000393498.2_Silent_p.L213L|FOXP2_ENST00000390668.3_Silent_p.L258L|FOXP2_ENST00000408937.3_Silent_p.L259L|FOXP2_ENST00000378237.3_Silent_p.L234L|FOXP2_ENST00000393500.3_Silent_p.L159L|FOXP2_ENST00000403559.4_Silent_p.L251L|FOXP2_ENST00000360232.4_Silent_p.L234L			O15409	FOXP2_HUMAN	forkhead box P2	234	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L259L(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGCATCTGCTCAGCCTTCAGC	0.552																																						uc003vhb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(700-702)CTC>CTT		forkhead box P2 isoform I							78.0	60.0	66.0					7																	114271687		2203	4300	6503	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114271687C>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.702C>T	7.37:g.114271687C>T						FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.L259L|FOXP2_uc003vha.2_Silent_p.L142L|FOXP2_uc011kmu.1_Silent_p.L251L|FOXP2_uc011kmv.1_Silent_p.L233L|FOXP2_uc010ljz.1_Silent_p.L142L|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.L234L|FOXP2_uc003vgx.2_Silent_p.L234L|FOXP2_uc003vhd.2_Silent_p.L234L|FOXP2_uc003vhc.2_Silent_p.L259L	p.L234L	NM_014491	NP_055306	O15409	FOXP2_HUMAN			6	1076	+			234			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.702C>T	CCDS5760.1																																																																																				PASS	0.552	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		14	18	14	18	---	---	---	---
TES	26136	broad.mit.edu	37	7	115892000	115892000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:115892000G>T	ENST00000358204.4	+	5	1104	c.889G>T	c.(889-891)Gag>Tag	p.E297*	AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Nonsense_Mutation_p.E288*|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Nonsense_Mutation_p.E55*	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	297	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E297*(2)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTGTGACAGCGAGAAACCCCG	0.493																																						uc003vho.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(889-891)GAG>TAG		testin isoform 1							81.0	74.0	77.0					7																	115892000		2203	4300	6503	SO:0001587	stop_gained	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115892000G>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.889G>T	7.37:g.115892000G>T	ENSP00000350937:p.Glu297*					TES_uc011kmy.1_Nonsense_Mutation_p.E55*|TES_uc003vhp.2_Nonsense_Mutation_p.E288*|uc003vhq.1_5'Flank	p.E297*	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	1070	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	297			LIM zinc-binding 1.		A4D0U6|Q9GZQ1|Q9HAJ9	Nonsense_Mutation	SNP	ENST00000358204.4	37	c.889G>T	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	G	36	5.847066	0.97023	.	.	ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481	.	.	.	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-42.9659	20.0016	0.97412	0.0:0.0:1.0:0.0	.	.	.	.	X	297;55;297;288	.	ENSP00000257721:E297X	E	+	1	0	TES	115679236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	GAG		PASS	0.493	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		31	32	31	32	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121753271	121753271	+	Silent	SNP	C	C	G	rs139733515		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:121753271C>G	ENST00000393376.1	-	10	1274	c.1179G>C	c.(1177-1179)tcG>tcC	p.S393S	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.S393S			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	393	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.S393S(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TCAGGATCCCCGAGCCTTCAA	0.408																																						uc003vka.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1177-1179)TCG>TCC		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						80.0	73.0	76.0					7																	121753271		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121753271C>G	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1179G>C	7.37:g.121753271C>G						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.S393S|AASS_uc011knw.1_Intron	p.S393S	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			10	1275	-			393			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.1179G>C	CCDS5783.1																																																																																				PASS	0.408	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		12	16	12	16	---	---	---	---
C7orf55	154791	broad.mit.edu	37	7	139030286	139030286	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:139030286C>T	ENST00000297534.6	+	2	431	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	C7orf55_ENST00000481123.1_3'UTR|C7orf55-LUC7L2_ENST00000541170.3_Intron|LUC7L2_ENST00000541515.3_Missense_Mutation_p.H60Y	NM_197964.4	NP_932068.2	Q96HJ9	CG055_HUMAN	chromosome 7 open reading frame 55	60						mitochondrion (GO:0005739)		p.H60Y(1)		breast(1)|lung(2)	3						ACATGAGCTTCATTTCCAAGC	0.507																																						uc011kqt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)CAT>TAT		LUC7-like 2							82.0	72.0	75.0					7																	139030286		2203	4300	6503	SO:0001583	missense	51631						enzyme binding|metal ion binding	g.chr7:139030286C>T	AF161386	CCDS5853.1	7q34	2009-01-22	2009-01-22	2009-01-22	ENSG00000164898	ENSG00000164898			26946	protein-coding gene	gene with protein product	"""formation of mitochondrial complexes 1 homolog (S. cerevisiae)"""					12477932	Standard	NM_197964		Approved	HSPC268, FMC1		Q96HJ9	OTTHUMG00000151719	ENST00000297534.6:c.178C>T	7.37:g.139030286C>T	ENSP00000297534:p.His60Tyr					LUC7L2_uc011kqs.1_Intron|C7orf55_uc003vuw.3_Missense_Mutation_p.H60Y	p.H60Y	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN			2	412	+	Melanoma(164;0.242)		Error:Variant_position_missing_in_Q9Y383_after_alignment					B7Z4Q3|Q75M90|Q9P0B3	Missense_Mutation	SNP	ENST00000297534.6	37	c.178C>T	CCDS5853.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318434	0.60524	.	.	ENSG00000164898;ENSG00000146963	ENST00000297534;ENST00000541515	T;T	0.46063	0.88;1.49	5.52	5.52	0.82312	.	0.059650	0.64402	D	0.000004	T	0.45955	0.1368	L	0.59436	1.845	0.46586	D	0.999113	P;P	0.52316	0.92;0.952	B;P	0.47470	0.26;0.548	T	0.38478	-0.9659	10	0.07030	T	0.85	-4.5756	19.4428	0.94827	0.0:1.0:0.0:0.0	.	60;60	B7Z4Q3;Q96HJ9	.;CG055_HUMAN	Y	60	ENSP00000297534:H60Y;ENSP00000440222:H60Y	ENSP00000297534:H60Y	H	+	1	0	LUC7L2;C7orf55	138680826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.902000	0.63266	2.585000	0.87301	0.557000	0.71058	CAT		PASS	0.507	C7orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323626.1	NM_197964		14	42	14	42	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140301390	140301390	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:140301390G>A	ENST00000275884.6	-	2	1225	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	DENND2A_ENST00000496613.1_Missense_Mutation_p.R270W|DENND2A_ENST00000537639.1_Missense_Mutation_p.R270W|DENND2A_ENST00000492720.1_Missense_Mutation_p.R270W			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	270					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R270W(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AACGTTCTCCGGGGTTTTGGC	0.562																																						uc010lnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(808-810)CGG>TGG		DENN/MADD domain containing 2A							129.0	135.0	133.0					7																	140301390		1925	4131	6056	SO:0001583	missense	27147							g.chr7:140301390G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.808C>T	7.37:g.140301390G>A	ENSP00000275884:p.Arg270Trp					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R270W|DENND2A_uc003vvw.2_Missense_Mutation_p.R270W|DENND2A_uc003vvx.2_Missense_Mutation_p.R270W	p.R270W	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	953	-	Melanoma(164;0.00956)		270					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.808C>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060878	0.55432	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.14516	3.26;3.26;3.26;2.5	4.85	3.89	0.44902	.	0.221123	0.39475	N	0.001348	T	0.36386	0.0965	M	0.73962	2.25	0.38279	D	0.942374	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.36504	-0.9745	10	0.87932	D	0	-13.5772	13.8015	0.63204	0.0:0.0:0.7648:0.2352	.	270;270	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	W	270	ENSP00000275884:R270W;ENSP00000442245:R270W;ENSP00000419654:R270W;ENSP00000419464:R270W	ENSP00000275884:R270W	R	-	1	2	DENND2A	139947859	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	2.146000	0.42216	2.519000	0.84933	0.462000	0.41574	CGG		PASS	0.562	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		65	96	65	96	---	---	---	---
TAS2R38	5726	broad.mit.edu	37	7	141673168	141673168	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:141673168A>T	ENST00000547270.1	-	1	405	c.322T>A	c.(322-324)Tgg>Agg	p.W108R		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	108					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.W108R(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCAGCAAGCCAGAGGTTGGCT	0.517																																						uc003vwx.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(322-324)TGG>AGG		taste receptor, type 2, member 38							91.0	90.0	90.0					7																	141673168		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673168A>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.322T>A	7.37:g.141673168A>T	ENSP00000448219:p.Trp108Arg						p.W108R	NM_176817	NP_789787	P59533	T2R38_HUMAN			1	406	-	Melanoma(164;0.0171)		108			Helical; Name=3; (Potential).		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.322T>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434793	0.43224	.	.	ENSG00000257138	ENST00000547270	T	0.07114	3.22	4.7	3.52	0.40303	.	0.000000	0.64402	D	0.000001	T	0.28699	0.0711	M	0.84585	2.705	0.38506	D	0.948356	D	0.89917	1.0	D	0.97110	1.0	T	0.07616	-1.0763	10	0.87932	D	0	.	8.4712	0.32986	0.8028:0.1972:0.0:0.0	.	108	P59533	T2R38_HUMAN	R	108	ENSP00000448219:W108R	ENSP00000331291:W108R	W	-	1	0	TAS2R38	141319637	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	5.128000	0.64733	0.910000	0.36722	0.533000	0.62120	TGG		PASS	0.517	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		30	33	30	33	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141800656	141800656	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:141800656G>A	ENST00000549489.2	+	45	5336	c.5241G>A	c.(5239-5241)ggG>ggA	p.G1747G	MGAM_ENST00000475668.2_Silent_p.G2643G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1747	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.G1747G(2)|p.G2644G(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAACTGCTGGGGGCTGGCTCT	0.498																																						uc003vwy.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(5239-5241)GGG>GGA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						85.0	84.0	84.0					7																	141800656		1956	4140	6096	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141800656G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5241G>A	7.37:g.141800656G>A							p.G1747G	NM_004668	NP_004659	O43451	MGA_HUMAN			45	5295	+	Melanoma(164;0.0272)		1747			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.5241G>A	CCDS47727.1																																																																																				PASS	0.498	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	25	5	25	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142723686	142723686	+	Silent	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:142723686C>G	ENST00000350513.2	-	1	596	c.534G>C	c.(532-534)ggG>ggC	p.G178G		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G178G(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TGAGCAATTGCCCTCGGTCAC	0.398																																						uc003wcc.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(532-534)GGG>GGC		olfactory receptor, family 9, subfamily A,							94.0	91.0	92.0					7																	142723686		2203	4299	6502	SO:0001819	synonymous_variant	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723686C>G		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.534G>C	7.37:g.142723686C>G							p.G178G	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	534	-	Melanoma(164;0.059)		178			Extracellular (Potential).		B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	c.534G>C	CCDS34767.1																																																																																				PASS	0.398	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			33	49	33	49	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151878701	151878701	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:151878701T>C	ENST00000262189.6	-	36	6462	c.6244A>G	c.(6244-6246)Ata>Gta	p.I2082V	KMT2C_ENST00000355193.2_Missense_Mutation_p.I2082V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2082	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I2082V(2)									AAATTATCTATAGGTCTTGGT	0.458																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(6244-6246)ATA>GTA		myeloid/lymphoid or mixed-lineage leukemia 3							71.0	72.0	72.0					7																	151878701		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151878701T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6244A>G	7.37:g.151878701T>C	ENSP00000262189:p.Ile2082Val					MLL3_uc003wkz.2_Missense_Mutation_p.I1143V	p.I2082V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	6463	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2082			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6244A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	3.310	-0.141042	0.06669	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.40476	1.03;1.03	5.52	0.945	0.19543	.	0.796894	0.10298	N	0.691452	T	0.11922	0.0290	N	0.00823	-1.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	10	0.07325	T	0.83	.	6.5782	0.22579	0.0:0.6232:0.1277:0.2491	.	2082;1143	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	2082	ENSP00000262189:I2082V;ENSP00000347325:I2082V	ENSP00000262189:I2082V	I	-	1	0	MLL3	151509634	0.001000	0.12720	0.001000	0.08648	0.841000	0.47740	0.360000	0.20250	-0.024000	0.13941	-1.252000	0.01501	ATA		PASS	0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	35	27	35	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2876056	2876056	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:2876056G>T	ENST00000520002.1	-	53	8530	c.7975C>A	c.(7975-7977)Cat>Aat	p.H2659N	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2659N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2658N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2659	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.H2658N(1)|p.H2387N(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTCTGACATGAGACCCCACA	0.488																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(7975-7977)CAT>AAT		CUB and Sushi multiple domains 1 precursor							197.0	194.0	195.0					8																	2876056		1985	4161	6146	SO:0001583	missense	64478					integral to membrane		g.chr8:2876056G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7975C>A	8.37:g.2876056G>T	ENSP00000430733:p.His2659Asn					CSMD1_uc011kwj.1_Missense_Mutation_p.H1988N|CSMD1_uc010lrg.2_Intron	p.H2659N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8365	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2659			Extracellular (Potential).|Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7975C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.34|14.34	2.506654|2.506654	0.44558|0.44558	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.62232|.	0.04;0.04|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.34861|.	0.0912|.	N|N	0.03029|0.03029	-0.43|-0.43	0.80722|0.80722	D|D	1|1	D;P|.	0.53312|.	0.959;0.888|.	B;P|.	0.49192|.	0.446;0.602|.	T|.	0.26608|.	-1.0098|.	10|.	0.17369|0.11485	T|T	0.5|0.65	.|.	19.093|19.093	0.93235|0.93235	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2659;2659|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	N|X	2659;2520;2658|2075	ENSP00000430733:H2659N;ENSP00000441462:H2658N|.	ENSP00000320445:H2520N|ENSP00000334828:S2075X	H|S	-|-	1|2	0|0	CSMD1|CSMD1	2863463|2863463	1.000000|1.000000	0.71417|0.71417	0.348000|0.348000	0.25681|0.25681	0.046000|0.046000	0.14306|0.14306	6.270000|6.270000	0.72563|0.72563	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	CAT|TCA		PASS	0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		101	44	101	44	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3245035	3245035	+	Silent	SNP	G	G	A	rs375511102		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:3245035G>A	ENST00000520002.1	-	19	3321	c.2766C>T	c.(2764-2766)caC>caT	p.H922H	CSMD1_ENST00000602723.1_Silent_p.H922H|CSMD1_ENST00000400186.3_Silent_p.H922H|CSMD1_ENST00000542608.1_Silent_p.H921H|CSMD1_ENST00000539096.1_Silent_p.H921H|CSMD1_ENST00000602557.1_Silent_p.H922H|CSMD1_ENST00000537824.1_Silent_p.H921H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	922	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.H650H(1)|p.H921H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGCAAGGCGTGGTTCCACT	0.582																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2764-2766)CAC>CAT		CUB and Sushi multiple domains 1 precursor							41.0	47.0	45.0					8																	3245035		2111	4226	6337	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3245035G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2766C>T	8.37:g.3245035G>A						CSMD1_uc011kwj.1_Silent_p.H314H|CSMD1_uc003wqe.2_Silent_p.H78H	p.H922H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	18	3156	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	922			Extracellular (Potential).|Sushi 5.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2766C>T		.	.	.	.	.	.	.	.	.	.	G	7.229	0.598857	0.13939	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.11	-2.09	0.07232	.	.	.	.	.	T	0.55768	0.1941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53012	-0.8498	4	.	.	.	.	10.8297	0.46652	0.7634:0.0:0.2366:0.0	.	.	.	.	C	402	.	.	R	-	1	0	CSMD1	3232442	0.029000	0.19370	0.746000	0.31095	0.761000	0.43186	-0.700000	0.05081	-0.298000	0.08921	-0.142000	0.14014	CGC		PASS	0.582	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	1	4	1	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957525	12957525	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:12957525A>T	ENST00000276297.4	-	9	2730	c.2321T>A	c.(2320-2322)aTg>aAg	p.M774K	DLC1_ENST00000358919.2_Missense_Mutation_p.M337K|DLC1_ENST00000512044.2_Missense_Mutation_p.M371K|DLC1_ENST00000520226.1_Missense_Mutation_p.M263K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	774	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.M774K(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTCTAAGTACATGCCCACCCG	0.577																																						uc003wwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2320-2322)ATG>AAG		deleted in liver cancer 1 isoform 1							71.0	65.0	67.0					8																	12957525		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957525A>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2321T>A	8.37:g.12957525A>T	ENSP00000276297:p.Met774Lys					DLC1_uc003wwk.1_Missense_Mutation_p.M337K|DLC1_uc003wwl.1_Missense_Mutation_p.M371K|DLC1_uc011kxx.1_Missense_Mutation_p.M263K	p.M774K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2765	-			774					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2321T>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201286	0.79015	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06608	3.54;3.31;3.3;3.28	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.80746	2.51	0.80722	D	1	D;D;D	0.76494	0.968;0.999;0.992	P;D;D	0.71656	0.554;0.968;0.974	T	0.02444	-1.1158	10	0.72032	D	0.01	.	13.9834	0.64319	1.0:0.0:0.0:0.0	.	774;371;337	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	K	774;337;371;263	ENSP00000276297:M774K;ENSP00000351797:M337K;ENSP00000422595:M371K;ENSP00000428028:M263K	ENSP00000276297:M774K	M	-	2	0	DLC1	13001896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.166000	0.77553	1.953000	0.56701	0.459000	0.35465	ATG		PASS	0.577	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		16	3	16	3	---	---	---	---
CLU	1191	broad.mit.edu	37	8	27468014	27468014	+	Silent	SNP	C	C	A	rs141237968	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:27468014C>A	ENST00000316403.10	-	2	480	c.75G>T	c.(73-75)acG>acT	p.T25T	CLU_ENST00000405140.3_Silent_p.T25T|CLU_ENST00000546343.1_Silent_p.T36T|CLU_ENST00000560366.1_Silent_p.T77T|CLU_ENST00000523500.1_Silent_p.T25T			P10909	CLUS_HUMAN	clusterin	25					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.T77T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGTCTGAGACCGTCTGGTCCC	0.567																																						uc003xfw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(73-75)ACG>ACT		clusterin isoform 2							115.0	104.0	108.0					8																	27468014		2203	4300	6503	SO:0001819	synonymous_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27468014C>A	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.75G>T	8.37:g.27468014C>A						CLU_uc010lux.1_5'UTR|CLU_uc003xfx.1_Silent_p.T25T|CLU_uc003xfy.1_Silent_p.T36T|CLU_uc003xfz.1_Silent_p.T77T	p.T25T	NM_203339	NP_976084	P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	1	133	-		Ovarian(32;2.61e-05)	25					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	c.75G>T	CCDS47832.1																																																																																				PASS	0.567	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		17	9	17	9	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30703523	30703523	+	Nonsense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:30703523A>T	ENST00000256246.2	-	1	3085	c.3011T>A	c.(3010-3012)tTa>tAa	p.L1004*	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1004					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.L1004*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCTTTTTTTAAGTGAACAAC	0.338																																						uc003xil.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(3010-3012)TTA>TAA		testis expressed 15							110.0	122.0	118.0					8																	30703523		2203	4299	6502	SO:0001587	stop_gained	56154							g.chr8:30703523A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3011T>A	8.37:g.30703523A>T	ENSP00000256246:p.Leu1004*						p.L1004*	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3011	-			1004						Nonsense_Mutation	SNP	ENST00000256246.2	37	c.3011T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	41	8.986806	0.99027	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.62	5.62	0.85841	.	0.000000	0.41823	D	0.000803	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3395	0.60537	1.0:0.0:0.0:0.0	.	.	.	.	X	1004	.	ENSP00000256246:L1004X	L	-	2	0	TEX15	30823065	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.281000	0.65609	2.138000	0.66242	0.383000	0.25322	TTA		PASS	0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			54	19	54	19	---	---	---	---
HTRA4	203100	broad.mit.edu	37	8	38832580	38832580	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:38832580A>G	ENST00000302495.4	+	2	597	c.497A>G	c.(496-498)aAt>aGt	p.N166S	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	166					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.N166S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTCAGGAGGAATTACAACTTC	0.557																																						uc003xmj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)AAT>AGT		HtrA serine peptidase 4 precursor							155.0	156.0	156.0					8																	38832580		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38832580A>G	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.497A>G	8.37:g.38832580A>G	ENSP00000305919:p.Asn166Ser						p.N166S	NM_153692	NP_710159	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		2	612	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	166					Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.497A>G	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625735	0.28889	.	.	ENSG00000169495	ENST00000302495	D	0.84298	-1.83	5.34	4.17	0.49024	Peptidase cysteine/serine, trypsin-like (1);	0.388405	0.24167	N	0.040927	T	0.76506	0.3997	L	0.36672	1.1	0.24132	N	0.995767	B	0.30584	0.286	B	0.20184	0.028	T	0.67597	-0.5630	10	0.54805	T	0.06	-24.6176	10.9455	0.47297	0.8428:0.1572:0.0:0.0	.	166	P83105	HTRA4_HUMAN	S	166	ENSP00000305919:N166S	ENSP00000305919:N166S	N	+	2	0	HTRA4	38951737	1.000000	0.71417	0.133000	0.22050	0.174000	0.22865	4.219000	0.58561	0.970000	0.38263	0.379000	0.24179	AAT		PASS	0.557	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		59	27	59	27	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733199	52733199	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:52733199C>T	ENST00000360540.5	-	7	1192	c.786G>A	c.(784-786)gaG>gaA	p.E262E	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.E262E|PCMTD1_ENST00000544451.1_Silent_p.E186E	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	262						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.E262E(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGGCCTGCATCTCATCATTTA	0.408																																						uc003xqx.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(784-786)GAG>GAA		protein-L-isoaspartate (D-aspartate)							94.0	98.0	96.0					8																	52733199		2203	4298	6501	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733199C>T		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.786G>A	8.37:g.52733199C>T						PCMTD1_uc011ldm.1_Silent_p.E132E|PCMTD1_uc003xqw.3_Silent_p.E262E|PCMTD1_uc011ldn.1_Silent_p.E74E|PCMTD1_uc010lya.2_Silent_p.E186E	p.E262E	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1127	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	262					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.786G>A	CCDS6148.1																																																																																				PASS	0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		7	102	7	102	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534821	55534821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:55534821G>T	ENST00000220676.1	+	3	908	c.760G>T	c.(760-762)Gga>Tga	p.G254*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	254					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.G64*(1)|p.G254*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTACCCCAAGGGAAATGCAAA	0.423																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			2	Substitution - Nonsense(2)		lung(2)	skin(7)|ovary(4)|pancreas(1)	12						c.(760-762)GGA>TGA		retinitis pigmentosa RP1 protein							80.0	82.0	82.0					8																	55534821		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534821G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.760G>T	8.37:g.55534821G>T	ENSP00000220676:p.Gly254*					RP1_uc011ldy.1_Nonsense_Mutation_p.G254*	p.G254*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	908	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	254						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.760G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750753	0.96890	.	.	ENSG00000104237	ENST00000427058;ENST00000220676	.	.	.	5.91	5.91	0.95273	.	0.221564	0.32093	N	0.006590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.6866	0.62520	0.0:0.0:0.7305:0.2695	.	.	.	.	X	64;254	.	ENSP00000220676:G254X	G	+	1	0	RP1	55697374	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	2.075000	0.41538	2.793000	0.96121	0.655000	0.94253	GGA		PASS	0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		39	12	39	12	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616390	77616390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:77616390G>T	ENST00000521891.2	+	2	515	c.67G>T	c.(67-69)Gga>Tga	p.G23*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.G23*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.G23*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.G23*|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G23*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGCTATGTGGAACGACACA	0.493										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(67-69)GGA>TGA		zinc finger homeodomain 4							59.0	59.0	59.0					8																	77616390		1997	4198	6195	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616390G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.67G>T	8.37:g.77616390G>T	ENSP00000430497:p.Gly23*	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Nonsense_Mutation_p.G23*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.G23*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.G23*	p.G23*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	454	+			23					G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.67G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079086	0.76528	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	.	.	.	5.65	5.65	0.86999	.	0.000000	0.43260	U	0.000582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000050961:G23X	G	+	1	0	ZFHX4	77778945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.707000	0.68370	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	53	5	53	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77775461	77775461	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:77775461C>A	ENST00000521891.2	+	11	9959	c.9511C>A	c.(9511-9513)Cct>Act	p.P3171T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3145T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3122T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3126T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3155T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			tcctcctcctcctcctccttc	0.502										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9376-9378)CCT>ACT		zinc finger homeodomain 4							46.0	46.0	46.0					8																	77775461		2048	4213	6261	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775461C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9511C>A	8.37:g.77775461C>A	ENSP00000430497:p.Pro3171Thr	HNSCC(33;0.089)					p.P3126T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9763	+			3122			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9376C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	9.719	1.159215	0.21454	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.71	4.71	0.59529	.	0.000000	0.40469	U	0.001086	D	0.84428	0.5470	L	0.46157	1.445	0.45607	D	0.998547	B	0.29646	0.253	B	0.31337	0.128	D	0.83537	0.0094	10	0.49607	T	0.09	.	16.7611	0.85512	0.0:1.0:0.0:0.0	.	3126	Q86UP3-4	.	T	3171;3155;3126;3122;3145	ENSP00000430497:P3171T;ENSP00000399605:P3126T;ENSP00000050961:P3122T;ENSP00000430848:P3145T	ENSP00000050961:P3122T	P	+	1	0	ZFHX4	77938016	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	0.757000	0.26433	2.601000	0.87937	0.561000	0.74099	CCT		PASS	0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	9	18	9	---	---	---	---
RALYL	138046	broad.mit.edu	37	8	85799928	85799928	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:85799928G>A	ENST00000521268.1	+	8	1880	c.775G>A	c.(775-777)Gct>Act	p.A259T	RALYL_ENST00000521695.1_Missense_Mutation_p.A259T|RALYL_ENST00000518566.1_Missense_Mutation_p.A248T|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000523850.1_Missense_Mutation_p.A186T|RALYL_ENST00000522455.1_Missense_Mutation_p.A259T|RALYL_ENST00000517638.1_Missense_Mutation_p.A272T	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	259							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A259T(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGAGGAGCCTGCTGAAGGAGG	0.507																																						uc003ycq.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(775-777)GCT>ACT		RALY RNA binding protein-like isoform 2							142.0	145.0	144.0					8																	85799928		1996	4163	6159	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799928G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.775G>A	8.37:g.85799928G>A	ENSP00000430367:p.Ala259Thr					RALYL_uc003ycr.3_Missense_Mutation_p.A259T|RALYL_uc003ycs.3_Missense_Mutation_p.A259T|RALYL_uc010lzy.2_Missense_Mutation_p.A248T|RALYL_uc003yct.3_Missense_Mutation_p.A272T|RALYL_uc003ycu.3_Missense_Mutation_p.A186T|RALYL_uc003ycv.3_Intron	p.A259T	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			9	1191	+			259					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.775G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890037	0.52014	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.14144	2.94;2.94;2.94;2.94;2.94;2.53	5.46	4.39	0.52855	.	0.499727	0.21314	N	0.076599	T	0.04770	0.0129	N	0.02539	-0.55	0.80722	D	1	B;B;B;B	0.19935	0.04;0.002;0.006;0.001	B;B;B;B	0.16722	0.016;0.003;0.003;0.001	T	0.40384	-0.9566	10	0.23891	T	0.37	-9.0628	6.3358	0.21294	0.268:0.0:0.732:0.0	.	248;186;272;259	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	T	259;259;259;248;272;186	ENSP00000430394:A259T;ENSP00000428667:A259T;ENSP00000430367:A259T;ENSP00000430065:A248T;ENSP00000430128:A272T;ENSP00000428807:A186T	ENSP00000430128:A272T	A	+	1	0	RALYL	85962483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.181000	0.50903	2.562000	0.86427	0.561000	0.74099	GCT		PASS	0.507	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			9	137	9	137	---	---	---	---
CTHRC1	115908	broad.mit.edu	37	8	104390442	104390442	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:104390442C>T	ENST00000330295.5	+	3	702	c.560C>T	c.(559-561)tCa>tTa	p.S187L	CTHRC1_ENST00000520880.1_Missense_Mutation_p.S57L|CTHRC1_ENST00000520337.1_Missense_Mutation_p.S173L	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	187					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.S187L(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GAAATGAATTCAACAATTAAT	0.373																																						uc003ylk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(559-561)TCA>TTA		collagen triple helix repeat containing 1							72.0	72.0	72.0					8																	104390442		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104390442C>T	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.560C>T	8.37:g.104390442C>T	ENSP00000330523:p.Ser187Leu						p.S187L	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		3	659	+			187					G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.560C>T	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645913	0.67358	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.66099	-0.19;0.85	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.38838	1.175	0.80722	D	1	B	0.25441	0.126	B	0.18871	0.023	T	0.53121	-0.8483	10	0.51188	T	0.08	-14.1229	19.3347	0.94312	0.0:1.0:0.0:0.0	.	187	Q96CG8	CTHR1_HUMAN	L	187;173;173;57	ENSP00000330523:S187L;ENSP00000430550:S173L	ENSP00000297577:S173L	S	+	2	0	CTHRC1	104459618	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.571000	0.86741	0.650000	0.86243	TCA		PASS	0.373	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		8	46	8	46	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815050	106815050	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:106815050A>G	ENST00000407775.2	+	8	2990	c.2740A>G	c.(2740-2742)Ata>Gta	p.I914V	ZFPM2_ENST00000520492.1_Missense_Mutation_p.I782V|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I782V|ZFPM2_ENST00000378472.4_Missense_Mutation_p.I645V|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	914					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I914V(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGAAGCATAATAAAATGTGA	0.453																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(2740-2742)ATA>GTA		zinc finger protein, multitype 2							40.0	39.0	40.0					8																	106815050		1891	4118	6009	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815050A>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2740A>G	8.37:g.106815050A>G	ENSP00000384179:p.Ile914Val					ZFPM2_uc011lhs.1_Missense_Mutation_p.I645V	p.I914V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2763	+			914					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2740A>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	0.717	-0.784862	0.02907	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19250	2.16;2.65;2.65;3.86	5.76	5.76	0.90799	.	0.143194	0.64402	D	0.000009	T	0.13670	0.0331	N	0.14661	0.345	0.37573	D	0.91949	B	0.15473	0.013	B	0.06405	0.002	T	0.16305	-1.0407	10	0.17369	T	0.5	.	16.0709	0.80928	1.0:0.0:0.0:0.0	.	914	Q8WW38	FOG2_HUMAN	V	914;782;782;645	ENSP00000384179:I914V;ENSP00000430757:I782V;ENSP00000428720:I782V;ENSP00000367733:I645V	ENSP00000367733:I645V	I	+	1	0	ZFPM2	106884226	0.998000	0.40836	0.901000	0.35422	0.989000	0.77384	3.435000	0.52849	2.198000	0.70561	0.528000	0.53228	ATA		PASS	0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			23	22	23	22	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120759010	120759010	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:120759010C>G	ENST00000378164.2	-	23	3341	c.3043G>C	c.(3043-3045)Gca>Cca	p.A1015P	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1015					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A1015P(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGTTGCCTGCTACTGACTCT	0.428																																						uc003you.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(3043-3045)GCA>CCA		TBP-associated factor 2							236.0	233.0	234.0					8																	120759010		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120759010C>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3043G>C	8.37:g.120759010C>G	ENSP00000367406:p.Ala1015Pro						p.A1015P	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		23	3313	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1015					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3043G>C	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671744	0.29693	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.32988	2.36;1.43	5.68	1.69	0.24217	.	0.525074	0.21271	N	0.077315	T	0.17238	0.0414	N	0.19112	0.55	0.18873	N	0.999981	B	0.02656	0.0	B	0.04013	0.001	T	0.21008	-1.0258	10	0.25106	T	0.35	-20.1523	9.3104	0.37900	0.0:0.6941:0.0:0.3059	.	1015	Q6P1X5	TAF2_HUMAN	P	1015;139	ENSP00000367406:A1015P;ENSP00000436750:A139P	ENSP00000367406:A1015P	A	-	1	0	TAF2	120828191	0.036000	0.19791	0.057000	0.19452	0.729000	0.41735	0.664000	0.25068	0.268000	0.21939	0.563000	0.77884	GCA		PASS	0.428	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		17	125	17	125	---	---	---	---
ZNF34	80778	broad.mit.edu	37	8	145999031	145999031	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:145999031C>A	ENST00000343459.4	-	6	1368	c.1303G>T	c.(1303-1305)Gtg>Ttg	p.V435L	ZNF34_ENST00000429371.2_Missense_Mutation_p.V414L			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V435L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TGATGTTCCACGAGTTTGGTT	0.413																																						uc003zdy.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1303-1305)GTG>TTG		zinc finger protein 34							68.0	70.0	70.0					8																	145999031		2202	4300	6502	SO:0001583	missense	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145999031C>A	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1303G>T	8.37:g.145999031C>A	ENSP00000341528:p.Val435Leu					ZNF34_uc010mgb.2_Missense_Mutation_p.V332L|ZNF34_uc003zdx.3_Missense_Mutation_p.V414L	p.V435L	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	6	1405	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	435			C2H2-type 8.		D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	37	c.1303G>T	CCDS47945.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837483	0.32513	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	T;T	0.35605	1.3;1.3	3.4	0.588	0.17445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29900	N	0.010912	T	0.16769	0.0403	N	0.16602	0.42	0.09310	N	1	B;B	0.34399	0.452;0.452	B;B	0.32677	0.15;0.15	T	0.11179	-1.0598	10	0.30854	T	0.27	.	4.4773	0.11750	0.0:0.5255:0.1669:0.3075	.	394;435	E7EN25;Q8IZ26	.;ZNF34_HUMAN	L	394;364;435;414	ENSP00000341528:V435L;ENSP00000396894:V414L	ENSP00000341528:V435L	V	-	1	0	ZNF34	145969835	0.000000	0.05858	0.030000	0.17652	0.863000	0.49368	-3.122000	0.00594	0.097000	0.17492	0.462000	0.41574	GTG		PASS	0.413	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		39	13	39	13	---	---	---	---
DMRT1	1761	broad.mit.edu	37	9	893917	893917	+	Missense_Mutation	SNP	C	C	T	rs573886620		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:893917C>T	ENST00000382276.3	+	3	693	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	DMRT1_ENST00000569227.1_Missense_Mutation_p.R24C	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	182					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R182C(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TTTAGAGGGACGTATGGTCAT	0.448											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(544-546)CGT>TGT		doublesex and mab-3 related transcription factor							63.0	58.0	60.0					9																	893917		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:893917C>T	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.544C>T	9.37:g.893917C>T	ENSP00000371711:p.Arg182Cys		OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	DMRT1_uc003zgu.1_Missense_Mutation_p.R182C	p.R182C	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	3	693	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	182					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.544C>T	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658698	0.67586	.	.	ENSG00000137090	ENST00000382276	T	0.22336	1.96	5.92	5.92	0.95590	.	0.108147	0.64402	D	0.000004	T	0.49029	0.1533	M	0.84683	2.71	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.49153	-0.8969	10	0.49607	T	0.09	.	12.1627	0.54113	0.1336:0.7376:0.1288:0.0	.	182;182	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	C	182	ENSP00000371711:R182C	ENSP00000371711:R182C	R	+	1	0	DMRT1	883917	0.978000	0.34361	0.937000	0.37676	0.994000	0.84299	2.583000	0.46094	2.820000	0.97059	0.650000	0.86243	CGT		PASS	0.448	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		4	18	4	18	---	---	---	---
SPATA6L	55064	broad.mit.edu	37	9	4605351	4605351	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:4605351T>C	ENST00000454239.2	-	11	1330	c.1085A>G	c.(1084-1086)aAc>aGc	p.N362S	SPATA6L_ENST00000475086.1_Missense_Mutation_p.N304S|SPATA6L_ENST00000381890.5_3'UTR|SPATA6L_ENST00000381895.5_Missense_Mutation_p.N239S			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	362								p.N362S(1)									TCTAACCTTGTTTTGGTGCAG	0.428																																						uc011llz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)AAC>AGC		hypothetical protein LOC55064							124.0	116.0	118.0					9																	4605351		1896	4147	6043	SO:0001583	missense	55064							g.chr9:4605351T>C	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.1085A>G	9.37:g.4605351T>C	ENSP00000404277:p.Asn362Ser					C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Missense_Mutation_p.N362S|C9orf68_uc011lly.1_Missense_Mutation_p.N239S	p.N304S	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN		GBM - Glioblastoma multiforme(50;0.0222)	9	1149	-		Breast(48;0.0456)	304					B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37	c.911A>G		.	.	.	.	.	.	.	.	.	.	T	1.764	-0.485998	0.04352	.	.	ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895	T;T;T	0.21191	2.03;2.04;2.02	4.99	0.113	0.14631	.	6.143530	0.00166	N	0.000002	T	0.09113	0.0225	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.003	B;B;B	0.10450	0.005;0.005;0.004	T	0.21314	-1.0249	10	0.14656	T	0.56	-13.7235	4.17	0.10326	0.0:0.2837:0.1908:0.5255	.	304;239;362	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	S	362;304;239	ENSP00000404277:N362S;ENSP00000417063:N304S;ENSP00000371319:N239S	ENSP00000371319:N239S	N	-	2	0	C9orf68	4595351	0.025000	0.19082	0.006000	0.13384	0.011000	0.07611	-0.266000	0.08631	0.133000	0.18654	-0.290000	0.09829	AAC		PASS	0.428	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		29	7	29	7	---	---	---	---
C9orf72	203228	broad.mit.edu	37	9	27556758	27556758	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:27556758C>T	ENST00000380003.3	-	8	955	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	298					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.V298I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCATACATGACTTGCCGGAAA	0.378																																						uc003zqq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(892-894)GTC>ATC		hypothetical protein LOC203228 isoform a							147.0	137.0	140.0					9																	27556758		2203	4300	6503	SO:0001583	missense	203228							g.chr9:27556758C>T	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.892G>A	9.37:g.27556758C>T	ENSP00000369339:p.Val298Ile						p.V298I	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	8	989	-		all_neural(11;7.57e-10)	298					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	c.892G>A	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459983	0.63401	.	.	ENSG00000147894	ENST00000380003	T	0.47528	0.84	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.35723	1.085	0.80722	D	1	P	0.36483	0.555	B	0.39562	0.303	T	0.18524	-1.0334	9	.	.	.	.	20.0308	0.97536	0.0:1.0:0.0:0.0	.	298	Q96LT7	CI072_HUMAN	I	298	ENSP00000369339:V298I	.	V	-	1	0	C9orf72	27546758	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.469000	0.80959	2.732000	0.93576	0.585000	0.79938	GTC		PASS	0.378	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		46	27	46	27	---	---	---	---
UBAP1	51271	broad.mit.edu	37	9	34241647	34241647	+	Silent	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:34241647G>C	ENST00000297661.4	+	4	859	c.624G>C	c.(622-624)gtG>gtC	p.V208V	UBAP1_ENST00000545103.1_Silent_p.V272V|UBAP1_ENST00000379186.4_Silent_p.V208V|UBAP1_ENST00000540348.1_Silent_p.V208V|UBAP1_ENST00000536252.1_Silent_p.V208V|UBAP1_ENST00000359544.2_Silent_p.V208V|UBAP1_ENST00000543944.1_Silent_p.V244V	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	208					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)	p.V208V(1)|p.V272V(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CTGGGTCTGTGTTACAGGATG	0.483																																					NSCLC(109;1074 1634 14978 20375 39620)	uc003ztx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(622-624)GTG>GTC		ubiquitin associated protein 1							60.0	59.0	59.0					9																	34241647		2203	4300	6503	SO:0001819	synonymous_variant	51271					cytoplasm		g.chr9:34241647G>C	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.624G>C	9.37:g.34241647G>C						UBAP1_uc010mka.1_Silent_p.V244V|UBAP1_uc003zty.2_Silent_p.V208V|UBAP1_uc011loi.1_Silent_p.V244V|UBAP1_uc011loj.1_Silent_p.V272V|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Silent_p.V208V	p.V208V	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		4	859	+			208					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Silent	SNP	ENST00000297661.4	37	c.624G>C	CCDS6550.1																																																																																				PASS	0.483	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			13	162	13	162	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34257596	34257596	+	Missense_Mutation	SNP	G	G	T	rs10972026		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:34257596G>T	ENST00000402558.2	-	10	2033	c.2009C>A	c.(2008-2010)tCt>tAt	p.S670Y	KIF24_ENST00000379174.3_Missense_Mutation_p.S536Y|KIF24_ENST00000345050.2_Missense_Mutation_p.S536Y|KIF24_ENST00000379166.2_Missense_Mutation_p.S670Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	670					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S670Y(1)|p.S152Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATTTTTCTCAGAGCACAATGG	0.527																																						uc003zua.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2008-2010)TCT>TAT		kinesin family member 24							85.0	86.0	86.0					9																	34257596		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257596G>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2009C>A	9.37:g.34257596G>T	ENSP00000384433:p.Ser670Tyr					KIF24_uc010mkb.2_Intron	p.S670Y	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2129	-			670					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.2009C>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359113	0.41801	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.73575	-0.54;-0.76;-0.54;-0.76	5.69	5.69	0.88448	.	0.181563	0.27302	N	0.019987	T	0.79811	0.4510	M	0.80183	2.485	0.41551	D	0.988576	D	0.59767	0.986	P	0.51999	0.687	T	0.76958	-0.2766	10	0.11485	T	0.65	.	14.0156	0.64523	0.072:0.0:0.928:0.0	.	670	Q5T7B8	KIF24_HUMAN	Y	670;536;670;536;670	ENSP00000384433:S670Y;ENSP00000368472:S536Y;ENSP00000368464:S670Y;ENSP00000340179:S536Y	ENSP00000340179:S536Y	S	-	2	0	KIF24	34247596	0.999000	0.42202	1.000000	0.80357	0.078000	0.17371	2.505000	0.45424	2.676000	0.91093	0.655000	0.94253	TCT		PASS	0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			11	443	11	443	---	---	---	---
VCP	7415	broad.mit.edu	37	9	35061053	35061053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:35061053C>A	ENST00000358901.6	-	11	2213	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	440					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.E440*(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTCATGACCTCGGCATCAATG	0.527																																						uc003zvy.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1318-1320)GAG>TAG		valosin-containing protein							238.0	221.0	226.0					9																	35061053		2203	4300	6503	SO:0001587	stop_gained	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35061053C>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1318G>T	9.37:g.35061053C>A	ENSP00000351777:p.Glu440*					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Nonsense_Mutation_p.E109*|VCP_uc010mki.1_Nonsense_Mutation_p.E395*	p.E440*	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		11	1707	-			440					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Nonsense_Mutation	SNP	ENST00000358901.6	37	c.1318G>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	45	12.053767	0.99631	.	.	ENSG00000165280	ENST00000358901	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.3151	18.7507	0.91814	0.0:1.0:0.0:0.0	.	.	.	.	X	440	.	ENSP00000351777:E440X	E	-	1	0	VCP	35051053	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.776000	0.85560	2.514000	0.84764	0.462000	0.41574	GAG		PASS	0.527	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		11	882	11	882	---	---	---	---
FAM166B	730112	broad.mit.edu	37	9	35563227	35563227	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:35563227C>A	ENST00000399742.2	-	2	292	c.222G>T	c.(220-222)agG>agT	p.R74S	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	74								p.R74S(2)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						GTAGACTCTCCCTGGGAACCT	0.617																																						uc010mkr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(220-222)AGG>AGT		hypothetical protein LOC730112 isoform 1							130.0	135.0	134.0					9																	35563227		2078	4214	6292	SO:0001583	missense	730112							g.chr9:35563227C>A	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.222G>T	9.37:g.35563227C>A	ENSP00000382646:p.Arg74Ser					FAM166B_uc011lov.1_Missense_Mutation_p.R74S|FAM166B_uc011low.1_Missense_Mutation_p.R74S|FAM166B_uc003zwy.2_Missense_Mutation_p.R74S	p.R74S	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN			2	293	-			74					A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	c.222G>T	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	C	7.678	0.688355	0.14973	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.9	-0.626	0.11544	.	0.626869	0.11888	U	0.519906	T	0.25754	0.0627	L	0.43152	1.355	0.09310	N	1	P;P;B;B	0.39352	0.669;0.454;0.065;0.4	B;B;B;B	0.41374	0.355;0.192;0.033;0.173	T	0.14476	-1.0471	9	0.37606	T	0.19	-0.7976	1.2829	0.02044	0.1422:0.4016:0.1384:0.3178	.	74;74;74;74	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	S	74	.	ENSP00000382646:R74S	R	-	3	2	FAM166B	35553227	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.442000	0.06871	-0.095000	0.12351	0.655000	0.94253	AGG		PASS	0.617	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		12	552	12	552	---	---	---	---
MSMP	692094	broad.mit.edu	37	9	35753243	35753243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:35753243C>A	ENST00000436428.2	-	3	413	c.274G>T	c.(274-276)Gag>Tag	p.E92*	MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	92						cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.E92*(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						TGACGTACCTCACACCCAGCC	0.602																																						uc003zyb.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(274-276)GAG>TAG		PC3-secreted microprotein precursor							43.0	47.0	46.0					9																	35753243		2139	4246	6385	SO:0001587	stop_gained	692094					extracellular region		g.chr9:35753243C>A	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.274G>T	9.37:g.35753243C>A	ENSP00000419194:p.Glu92*						p.E92*	NM_001044264	NP_001037729	Q1L6U9	MSMP_HUMAN			3	420	-			92						Nonsense_Mutation	SNP	ENST00000436428.2	37	c.274G>T	CCDS43797.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072617	0.76415	.	.	ENSG00000215183	ENST00000436428	.	.	.	5.81	5.81	0.92471	.	0.000000	0.34133	U	0.004225	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-12.0072	16.3296	0.83005	0.0:0.868:0.132:0.0	.	.	.	.	X	92	.	ENSP00000419194:E92X	E	-	1	0	MSMP	35743243	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.292000	0.43549	2.733000	0.93635	0.655000	0.94253	GAG		PASS	0.602	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		6	129	6	129	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35807326	35807326	+	Splice_Site	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:35807326G>T	ENST00000342694.2	+	18	2898		c.e18-1		SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.?(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATCCCTTTTAGGTAGTGACAC	0.423																																						uc003zyd.2																			2	Unknown(2)		lung(2)	ovary(2)|stomach(1)	3						c.e18-1		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						204.0	206.0	205.0					9																	35807326		2203	4300	6503	SO:0001630	splice_region_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35807326G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2644-1G>T	9.37:g.35807326G>T						NPR2_uc010mlb.2_Splice_Site_p.V858_splice	p.V882_splice	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		18	2644	+	all_epithelial(49;0.161)							B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Splice_Site	SNP	ENST00000342694.2	37	c.2644_splice	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472582	0.63737	.	.	ENSG00000159899	ENST00000342694;ENST00000421267;ENST00000447210	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4575	0.94900	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPR2	35797326	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.851000	0.86920	2.941000	0.99782	0.655000	0.94253	.		PASS	0.423	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		Intron	12	689	12	689	---	---	---	---
TMEM8B	51754	broad.mit.edu	37	9	35853137	35853137	+	Splice_Site	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:35853137G>T	ENST00000377991.4	+	13	1981		c.e13-1		TMEM8B_ENST00000377988.2_Splice_Site	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B						cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCTTTCTCTAGGTGCTGTATT	0.582																																						uc003zym.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e13-1		transmembrane protein 8B isoform a							163.0	163.0	163.0					9																	35853137		1992	4176	6168	SO:0001630	splice_region_variant	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35853137G>T	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.967-1G>T	9.37:g.35853137G>T						TMEM8B_uc003zyo.2_Splice_Site_p.V323_splice	p.V323_splice	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN			13	1982	+								B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Splice_Site	SNP	ENST00000377991.4	37	c.967_splice	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084149	0.76642	.	.	ENSG00000137103	ENST00000377991;ENST00000377988	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1165	0.81306	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM8B	35843137	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.768000	0.98965	2.473000	0.83533	0.555000	0.69702	.		PASS	0.582	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446	Intron	11	831	11	831	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73235238	73235238	+	Missense_Mutation	SNP	C	C	A	rs145000157		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:73235238C>A	ENST00000377111.2	-	15	2090	c.1847G>T	c.(1846-1848)cGt>cTt	p.R616L	TRPM3_ENST00000396285.1_Missense_Mutation_p.R463L|TRPM3_ENST00000423814.3_Missense_Mutation_p.R643L|TRPM3_ENST00000357533.2_Missense_Mutation_p.R620L|TRPM3_ENST00000377110.3_Missense_Mutation_p.R616L|TRPM3_ENST00000360823.2_Missense_Mutation_p.R478L|TRPM3_ENST00000377105.1_Missense_Mutation_p.R475L|TRPM3_ENST00000377106.1_Missense_Mutation_p.R488L|TRPM3_ENST00000358082.3_Missense_Mutation_p.R478L|TRPM3_ENST00000408909.2_Missense_Mutation_p.R475L|TRPM3_ENST00000396292.4_Missense_Mutation_p.R488L|TRPM3_ENST00000396280.5_Missense_Mutation_p.R465L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	641					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.R620L(1)|p.R616L(1)|p.R488L(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTCTTCTTCACGTTTCTTGGT	0.463																																						uc004aid.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1846-1848)CGT>CTT		transient receptor potential cation channel,							300.0	267.0	278.0					9																	73235238		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73235238C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1847G>T	9.37:g.73235238C>A	ENSP00000366315:p.Arg616Leu					TRPM3_uc004ahu.2_Missense_Mutation_p.R446L|TRPM3_uc004ahv.2_Missense_Mutation_p.R418L|TRPM3_uc004ahw.2_Missense_Mutation_p.R488L|TRPM3_uc004ahx.2_Missense_Mutation_p.R475L|TRPM3_uc004ahy.2_Missense_Mutation_p.R478L|TRPM3_uc004ahz.2_Missense_Mutation_p.R465L|TRPM3_uc004aia.2_Missense_Mutation_p.R463L|TRPM3_uc004aib.2_Missense_Mutation_p.R453L|TRPM3_uc004aic.2_Missense_Mutation_p.R616L	p.R616L	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			15	2091	-			641			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1847G>T		.	.	.	.	.	.	.	.	.	.	C	15.72	2.915735	0.52546	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	L	0.29908	0.895	0.41478	D	0.988143	B;B;P;B;B;B;B;B	0.42961	0.092;0.015;0.795;0.328;0.328;0.123;0.016;0.009	B;B;B;B;B;B;B;B	0.43680	0.109;0.01;0.427;0.111;0.157;0.13;0.008;0.013	T	0.64918	-0.6294	10	0.41790	T	0.15	-11.4553	15.6892	0.77436	0.0:0.9332:0.0:0.0668	.	616;616;606;620;478;475;588;463	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	L	616;616;488;478;475;620;475;463;488;478;643	ENSP00000366315:R616L;ENSP00000366314:R616L;ENSP00000366310:R488L;ENSP00000354066:R478L;ENSP00000366309:R475L;ENSP00000350140:R620L;ENSP00000386127:R475L;ENSP00000379581:R463L;ENSP00000379587:R488L;ENSP00000350791:R478L;ENSP00000389542:R643L	ENSP00000350140:R620L	R	-	2	0	TRPM3	72425058	0.997000	0.39634	0.999000	0.59377	0.956000	0.61745	2.063000	0.41423	2.890000	0.99128	0.650000	0.86243	CGT		PASS	0.463	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		129	26	129	26	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79324805	79324805	+	Silent	SNP	C	C	A	rs367561759		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:79324805C>A	ENST00000376718.3	-	8	2508	c.2385G>T	c.(2383-2385)gcG>gcT	p.A795A	PRUNE2_ENST00000428286.1_Silent_p.A436A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	795					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.A795A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGGAATGGCGCCACAGCTG	0.488																																						uc010mpk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2383-2385)GCG>GCT		prune homolog 2		C		0,3136		0,0,1568	41.0	37.0	38.0		2385	-1.3	0.0	9		38	1,7163		0,1,3581	no	coding-synonymous	PRUNE2	NM_015225.2		0,1,5149	AA,AC,CC		0.014,0.0,0.0097		795/3089	79324805	1,10299	1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324805C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2385G>T	9.37:g.79324805C>A							p.A795A	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2509	-			795					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.2385G>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.154073	0.00325	0.0	1.4E-4	ENSG00000106772	ENST00000426088	T	0.21031	2.03	5.71	-1.27	0.09347	.	1.527240	0.04129	N	0.317668	T	0.15003	0.0362	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19386	-1.0307	7	0.46703	T	0.11	4.0037	1.2634	0.02006	0.1502:0.2393:0.3108:0.2997	.	.	.	.	S	117	ENSP00000389706:A117S	ENSP00000389706:A117S	A	-	1	0	PRUNE2	78514625	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.596000	0.02091	-0.562000	0.06086	-1.520000	0.00934	GCC		PASS	0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		7	35	7	35	---	---	---	---
GKAP1	80318	broad.mit.edu	37	9	86403544	86403544	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:86403544C>A	ENST00000376371.2	-	5	810	c.410G>T	c.(409-411)aGt>aTt	p.S137I	GKAP1_ENST00000376365.3_Missense_Mutation_p.S137I	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	137					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)		p.S137I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCTAGTTTACTTAGTAACAA	0.303																																						uc004amy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)AGT>ATT		G kinase anchoring protein 1 isoform a							146.0	146.0	146.0					9																	86403544		2200	4298	6498	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86403544C>A	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.410G>T	9.37:g.86403544C>A	ENSP00000365550:p.Ser137Ile					GKAP1_uc004amz.2_Missense_Mutation_p.S137I|GKAP1_uc011lsu.1_RNA	p.S137I	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN			5	906	-			137			Potential.		Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.410G>T	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053343	0.75960	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77731	0.4174	M	0.81942	2.565	0.80722	D	1	P;D	0.64830	0.86;0.994	B;P	0.56343	0.406;0.796	T	0.80955	-0.1151	9	0.87932	D	0	-1.2588	19.1566	0.93514	0.0:1.0:0.0:0.0	.	137;137	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	I	137	.	ENSP00000365544:S137I	S	-	2	0	GKAP1	85593364	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.383000	0.66219	2.700000	0.92200	0.585000	0.79938	AGT		PASS	0.303	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		4	107	4	107	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90500668	90500668	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:90500668C>A	ENST00000325643.5	+	4	1332	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	422					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V422V(1)									CTCAGCAAGTCTCTGATGCCA	0.577																																						uc004app.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1264-1266)GTC>GTA		chromosome 9 open reading frame 79							101.0	81.0	88.0					9																	90500668		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90500668C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1266C>A	9.37:g.90500668C>A						C9orf79_uc004apo.1_Silent_p.V234V	p.V422V	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	1301	+			422					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.1266C>A	CCDS6676.1																																																																																				PASS	0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		75	19	75	19	---	---	---	---
FANCC	2176	broad.mit.edu	37	9	97864116	97864116	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:97864116T>A	ENST00000289081.3	-	15	1804	c.1550A>T	c.(1549-1551)gAg>gTg	p.E517V	FANCC_ENST00000375305.1_Missense_Mutation_p.E517V	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	517					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E517V(1)		kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GTGAGTTATCTCAGCAGTGTG	0.473			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004avh.2			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	D|Mis|N|F|S	"""Fanconi anemia, complementation group C"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1549-1551)GAG>GTG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group C							79.0	70.0	73.0					9																	97864116		2203	4300	6503	SO:0001583	missense	2176	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97864116T>A	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1550A>T	9.37:g.97864116T>A	ENSP00000289081:p.Glu517Val						p.E517V	NM_000136	NP_000127	Q00597	FANCC_HUMAN			15	1812	-		Acute lymphoblastic leukemia(62;0.138)	517					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1550A>T	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996009	0.54147	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.52057	0.68;0.68	4.9	2.5	0.30297	.	0.439557	0.23928	N	0.043164	T	0.42630	0.1211	L	0.50333	1.59	0.09310	N	1	P	0.38300	0.626	B	0.40410	0.328	T	0.26258	-1.0108	10	0.48119	T	0.1	-0.5261	9.9772	0.41791	0.0:0.0:0.3732:0.6268	.	517	Q00597	FANCC_HUMAN	V	517	ENSP00000289081:E517V;ENSP00000364454:E517V	ENSP00000289081:E517V	E	-	2	0	FANCC	96903937	0.004000	0.15560	0.005000	0.12908	0.186000	0.23388	0.046000	0.14035	0.341000	0.23771	0.459000	0.35465	GAG		PASS	0.473	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		17	64	17	64	---	---	---	---
IKBKAP	8518	broad.mit.edu	37	9	111640903	111640903	+	Splice_Site	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:111640903C>A	ENST00000374647.5	-	34	4007	c.3700G>T	c.(3700-3702)Gat>Tat	p.D1234Y	IKBKAP_ENST00000467959.1_5'Flank|IKBKAP_ENST00000537196.1_Splice_Site_p.D885Y	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1234					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.D1234Y(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGAATATACCTTTCAGGTTT	0.498																																						uc004bdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(3700-3702)GAT>TAT		inhibitor of kappa light polypeptide gene							199.0	196.0	197.0					9																	111640903		2203	4300	6503	SO:0001630	splice_region_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111640903C>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3700+1G>T	9.37:g.111640903C>A						IKBKAP_uc004bdl.2_Missense_Mutation_p.D885Y|IKBKAP_uc011lwc.1_Missense_Mutation_p.D1120Y|IKBKAP_uc010mtq.2_Missense_Mutation_p.D885Y|IKBKAP_uc004bdk.2_Missense_Mutation_p.D238Y|IKBKAP_uc010mtp.2_RNA	p.D1234Y	NM_003640	NP_003631	O95163	ELP1_HUMAN			34	4220	-			1234					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.3700G>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676962	0.68042	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.30182	1.93;1.54	5.86	5.86	0.93980	.	0.136239	0.56097	D	0.000022	T	0.51686	0.1689	M	0.72894	2.215	0.80722	D	1	D	0.62365	0.991	P	0.58721	0.844	T	0.45205	-0.9277	9	.	.	.	-23.0127	17.6957	0.88281	0.0:1.0:0.0:0.0	.	1234	O95163	ELP1_HUMAN	Y	1234;885	ENSP00000363779:D1234Y;ENSP00000439367:D885Y	.	D	-	1	0	IKBKAP	110680724	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	6.403000	0.73264	2.776000	0.95493	0.655000	0.94253	GAT		PASS	0.498	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1		Missense_Mutation	8	175	8	175	---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114296103	114296103	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:114296103A>C	ENST00000309235.5	+	4	744	c.586A>C	c.(586-588)Aag>Cag	p.K196Q	ZNF483_ENST00000358151.4_Missense_Mutation_p.K196Q|ZNF483_ENST00000355824.3_Missense_Mutation_p.K196Q	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	196	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K196Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGAGCTATATAAGGAAGTGCT	0.408																																						uc004bff.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(586-588)AAG>CAG		zinc finger protein 483 isoform a							96.0	104.0	101.0					9																	114296103		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114296103A>C	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.586A>C	9.37:g.114296103A>C	ENSP00000311679:p.Lys196Gln					ZNF483_uc011lwq.1_Missense_Mutation_p.K196Q|ZNF483_uc004bfg.2_Missense_Mutation_p.K196Q	p.K196Q	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			4	810	+			196			KRAB.		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.586A>C	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	A	7.125	0.578757	0.13686	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	T;T;T	0.01887	4.58;4.58;4.58	3.91	2.74	0.32292	Krueppel-associated box (4);	0.518457	0.16317	N	0.219726	T	0.02571	0.0078	L	0.39020	1.185	0.25890	N	0.983488	B;B;B	0.23937	0.094;0.094;0.053	B;B;B	0.26969	0.075;0.075;0.053	T	0.38499	-0.9658	10	0.51188	T	0.08	-6.2396	8.7874	0.34830	0.8088:0.1912:0.0:0.0	.	196;196;196	Q6P088;Q8NAE1;Q8TF39	.;.;ZN483_HUMAN	Q	196	ENSP00000350871:K196Q;ENSP00000438048:K196Q;ENSP00000311679:K196Q	ENSP00000311679:K196Q	K	+	1	0	ZNF483	113335924	0.083000	0.21467	0.602000	0.28890	0.022000	0.10575	0.053000	0.14184	0.656000	0.30886	-0.316000	0.08728	AAG		PASS	0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		6	64	6	64	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5799560	5799560	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:5799560T>C	ENST00000328090.5	+	17	7435	c.6810T>C	c.(6808-6810)gaT>gaC	p.D2270D		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2270								p.D2270D(1)									ATGTTCTTGATCACACCTACC	0.438																																						uc001iij.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(6808-6810)GAT>GAC		hypothetical protein LOC54906							238.0	223.0	228.0					10																	5799560		1904	4139	6043	SO:0001819	synonymous_variant	54906							g.chr10:5799560T>C	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6810T>C	10.37:g.5799560T>C						C10orf18_uc001iik.2_Silent_p.D1114D	p.D2270D	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			17	7435	+			2270					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.6810T>C	CCDS41485.1																																																																																				PASS	0.438	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		43	159	43	159	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17156039	17156039	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:17156039C>A	ENST00000377833.4	-	8	935	c.870G>T	c.(868-870)ggG>ggT	p.G290G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	290	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G290G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGACAGGCCCCACAGTAGA	0.552																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(868-870)GGG>GGT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						55.0	40.0	45.0					10																	17156039		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17156039C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.870G>T	10.37:g.17156039C>A							p.G290G	NM_001081	NP_001072	O60494	CUBN_HUMAN			8	922	-			290			EGF-like 3; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.870G>T	CCDS7113.1																																																																																				PASS	0.552	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	12	7	12	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31810412	31810412	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:31810412C>A	ENST00000320985.10	+	7	2259	c.2149C>A	c.(2149-2151)Cag>Aag	p.Q717K	ZEB1_ENST00000446923.2_Missense_Mutation_p.Q701K|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q697K|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q718K|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q650K			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	717					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q717K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGAAATACACAGGGTTACTT	0.453																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(2149-2151)CAG>AAG		zinc finger E-box binding homeobox 1 isoform b							86.0	79.0	81.0					10																	31810412		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810412C>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2149C>A	10.37:g.31810412C>A	ENSP00000319248:p.Gln717Lys					ZEB1_uc001ivr.3_Missense_Mutation_p.Q499K|ZEB1_uc010qee.1_Missense_Mutation_p.Q499K|ZEB1_uc010qef.1_Missense_Mutation_p.Q499K|ZEB1_uc009xlj.1_Missense_Mutation_p.Q643K|ZEB1_uc010qeg.1_Missense_Mutation_p.Q576K|ZEB1_uc009xlk.1_Missense_Mutation_p.Q499K|ZEB1_uc001ivt.3_Missense_Mutation_p.Q499K|ZEB1_uc001ivu.3_Missense_Mutation_p.Q718K|ZEB1_uc001ivv.3_Missense_Mutation_p.Q697K|ZEB1_uc010qeh.1_Missense_Mutation_p.Q650K|ZEB1_uc009xlo.1_Missense_Mutation_p.Q700K|ZEB1_uc009xlp.2_Missense_Mutation_p.Q701K	p.Q717K	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2212	+		Prostate(175;0.0156)	717					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2149C>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399507	0.25291	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.11930	3.04;2.74;2.78;2.73;2.78	5.19	5.19	0.71726	.	0.000000	0.51477	D	0.000089	T	0.16385	0.0394	L	0.51422	1.61	0.35625	D	0.809775	B;B;B;B;B;B;B;B	0.28933	0.228;0.082;0.085;0.085;0.049;0.02;0.085;0.085	B;B;B;B;B;B;B;B	0.31614	0.133;0.036;0.026;0.026;0.016;0.028;0.026;0.026	T	0.09773	-1.0659	10	0.45353	T	0.12	-10.4713	14.6715	0.68948	0.0:0.855:0.145:0.0	.	650;717;701;717;717;697;718;717	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	K	499;717;718;717;650;717;697;576;608;701	ENSP00000444282:Q499K;ENSP00000354487:Q718K;ENSP00000444891:Q650K;ENSP00000319248:Q717K;ENSP00000391612:Q701K	ENSP00000319248:Q717K	Q	+	1	0	ZEB1	31850418	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.747000	0.47475	2.575000	0.86900	0.650000	0.86243	CAG		PASS	0.453	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		16	41	16	41	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345348	38345348	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:38345348G>C	ENST00000458705.2	+	5	2451	c.2293G>C	c.(2293-2295)Gta>Cta	p.V765L	ZNF33A_ENST00000432900.2_Missense_Mutation_p.V772L|ZNF33A_ENST00000374618.3_Missense_Mutation_p.V766L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.V765L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V765L(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAATCTCATTGTACATCAGAG	0.378																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2293-2295)GTA>CTA		zinc finger protein 33A isoform b							85.0	82.0	83.0					10																	38345348		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345348G>C	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2293G>C	10.37:g.38345348G>C	ENSP00000387713:p.Val765Leu					ZNF33A_uc001izg.2_Missense_Mutation_p.V766L|ZNF33A_uc010qev.1_Missense_Mutation_p.V772L|ZNF33A_uc001izi.1_Intron	p.V765L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2471	+			765			C2H2-type 16.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.2293G>C	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	0.401	-0.918412	0.02396	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.60040	3.15;0.22;3.15;3.15	1.92	0.748	0.18376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31156	N	0.008159	T	0.44705	0.1306	N	0.08118	0	0.09310	N	1	P;B;B	0.48640	0.913;0.433;0.027	P;B;B	0.59889	0.865;0.107;0.017	T	0.37934	-0.9684	10	0.16420	T	0.52	.	7.6974	0.28602	0.0:0.264:0.736:0.0	.	772;765;766	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	766;772;765;765	ENSP00000363747:V766L;ENSP00000402467:V772L;ENSP00000387713:V765L;ENSP00000304268:V765L	ENSP00000304268:V765L	V	+	1	0	ZNF33A	38385354	0.000000	0.05858	0.997000	0.53966	0.557000	0.35523	-0.929000	0.03976	1.044000	0.40200	0.313000	0.20887	GTA		PASS	0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		25	39	25	39	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49392662	49392662	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:49392662C>G	ENST00000374201.3	-	20	2833	c.2531G>C	c.(2530-2532)aGg>aCg	p.R844T	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R812T|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R819T	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	844	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R844T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGATCATCCTAACAGCCAT	0.408																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2530-2532)AGG>ACG		FERM and PDZ domain containing 2 isoform 3							106.0	101.0	103.0					10																	49392662		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49392662C>G	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2531G>C	10.37:g.49392662C>G	ENSP00000363317:p.Arg844Thr					FRMPD2_uc001jgh.2_Missense_Mutation_p.R812T|FRMPD2_uc001jgj.2_Missense_Mutation_p.R822T	p.R844T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	20	2638	-			844			PDZ 1.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.2531G>C	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348647	0.41599	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39229	1.09;1.09;1.09	5.17	-2.63	0.06133	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.32315	0.0825	N	0.16567	0.415	0.23632	N	0.997246	P;P;P	0.46987	0.763;0.888;0.763	B;P;B	0.50659	0.288;0.647;0.288	T	0.35475	-0.9787	9	0.27082	T	0.32	.	10.4242	0.44367	0.0:0.2314:0.0:0.7686	.	819;844;812	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	T	844;819;812	ENSP00000363317:R844T;ENSP00000307079:R819T;ENSP00000384339:R812T	ENSP00000307079:R819T	R	-	2	0	FRMPD2	49062668	0.971000	0.33674	0.924000	0.36721	0.653000	0.38743	0.192000	0.17096	-0.340000	0.08388	-0.345000	0.07892	AGG		PASS	0.408	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		16	25	16	25	---	---	---	---
SAMD8	142891	broad.mit.edu	37	10	76910349	76910349	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:76910349G>A	ENST00000542569.1	+	2	166	c.63G>A	c.(61-63)ctG>ctA	p.L21L	SAMD8_ENST00000372687.4_Silent_p.L21L|SAMD8_ENST00000372690.3_Silent_p.L84L	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	21	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.L21L(1)|p.L84L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTGTGTGGCTGAAGGATGAAG	0.453																																						uc001jwx.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(61-63)CTG>CTA		sterile alpha motif domain containing 8							134.0	124.0	127.0					10																	76910349		2203	4300	6503	SO:0001819	synonymous_variant	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76910349G>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.63G>A	10.37:g.76910349G>A						SAMD8_uc001jwy.1_Silent_p.L21L	p.L21L	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN			2	166	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		21			SAM.		Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.63G>A	CCDS53543.1																																																																																				PASS	0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		23	26	23	26	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104135269	104135269	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:104135269G>C	ENST00000369983.3	+	30	4071	c.3811G>C	c.(3811-3813)Gag>Cag	p.E1271Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1271					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E1271Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACACTGCTGGAGTGCATCGG	0.592																																						uc001kux.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3811-3813)GAG>CAG		golgi-specific brefeldin A resistant guanine							101.0	78.0	86.0					10																	104135269		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104135269G>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3811G>C	10.37:g.104135269G>C	ENSP00000359000:p.Glu1271Gln					GBF1_uc001kuy.1_Missense_Mutation_p.E1271Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1272Q	p.E1271Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	30	4051	+		Colorectal(252;0.0236)	1271					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3811G>C	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055703	0.93793	.	.	ENSG00000107862	ENST00000369983	T	0.08008	3.14	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.72982	0.977;0.968;0.979	T	0.00233	-1.1894	10	0.33940	T	0.23	-18.5717	19.3333	0.94303	0.0:0.0:1.0:0.0	.	1271;1271;1271	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Q	1271	ENSP00000359000:E1271Q	ENSP00000359000:E1271Q	E	+	1	0	GBF1	104125259	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	GAG		PASS	0.592	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			16	8	16	8	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106907389	106907389	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:106907389C>T	ENST00000369701.3	+	9	1544	c.1317C>T	c.(1315-1317)atC>atT	p.I439I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	439					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.I439I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGCACATCATCAGTACAGACG	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1315-1317)ATC>ATT		VPS10 domain receptor protein SORCS 3 precursor							173.0	142.0	153.0					10																	106907389		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106907389C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1317C>T	10.37:g.106907389C>T							p.I439I	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	9	1544	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	439			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.1317C>T	CCDS7558.1																																																																																				PASS	0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		11	19	11	19	---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116232760	116232760	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:116232760T>C	ENST00000277895.5	-	10	1348	c.1251A>G	c.(1249-1251)aaA>aaG	p.K417K	ABLIM1_ENST00000369252.4_Silent_p.K357K|ABLIM1_ENST00000369266.3_Silent_p.K129K|ABLIM1_ENST00000392952.3_Silent_p.K129K|ABLIM1_ENST00000533213.2_Silent_p.K357K|ABLIM1_ENST00000369253.2_Silent_p.K75K	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	417					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.K129K(1)|p.K357K(1)|p.K417K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCTCTCCTGTTTGTCATCAT	0.403																																						uc010qsg.1																			3	Substitution - coding silent(3)		lung(3)	breast(1)	1						c.(1249-1251)AAA>AAG		actin-binding LIM protein 1 isoform a							198.0	185.0	189.0					10																	116232760		2203	4300	6503	SO:0001819	synonymous_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116232760T>C	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1251A>G	10.37:g.116232760T>C						ABLIM1_uc010qsh.1_Silent_p.K385K|ABLIM1_uc010qsi.1_Silent_p.K357K|ABLIM1_uc010qsk.1_Silent_p.K341K|ABLIM1_uc009xyp.2_Silent_p.K379K|ABLIM1_uc010qsf.1_Silent_p.K129K|ABLIM1_uc009xyn.2_Silent_p.K68K|ABLIM1_uc010qsj.1_Silent_p.K94K|ABLIM1_uc009xyo.2_Silent_p.K265K	p.K417K	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	10	1350	-		Colorectal(252;0.0373)|Breast(234;0.231)	417					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	c.1251A>G	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352909	0.24512	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.47	-6.14	0.02111	.	.	.	.	.	T	0.64724	0.2624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67035	-0.5772	4	.	.	.	.	16.4569	0.84021	0.0:0.6609:0.0:0.3391	.	.	.	.	S	326	.	.	N	-	2	0	ABLIM1	116222750	0.964000	0.33143	0.851000	0.33527	0.962000	0.63368	0.051000	0.14141	-1.301000	0.02338	0.533000	0.62120	AAC		PASS	0.403	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			44	14	44	14	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129913759	129913759	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:129913759C>G	ENST00000368654.3	-	7	1288	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	305					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E305Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAAGCAGGCTCTGCCACAGCG	0.552																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(913-915)GAG>CAG		antigen identified by monoclonal antibody Ki-67							80.0	83.0	82.0					10																	129913759		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913759C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.913G>C	10.37:g.129913759C>G	ENSP00000357643:p.Glu305Gln					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.E305Q	NM_002417	NP_002408	P46013	KI67_HUMAN			7	1108	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	305					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.913G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445488	0.25987	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01446	4.88	3.44	1.47	0.22746	.	1.434490	0.04660	N	0.408763	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	P	0.49185	0.92	B	0.37888	0.26	T	0.46261	-0.9204	10	0.87932	D	0	.	5.4867	0.16753	0.0:0.7226:0.0:0.2774	.	305	P46013	KI67_HUMAN	Q	305	ENSP00000357643:E305Q	ENSP00000357643:E305Q	E	-	1	0	MKI67	129803749	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.267000	0.08619	0.407000	0.25591	0.655000	0.94253	GAG		PASS	0.552	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	20	4	20	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	133106547	133106547	+	Silent	SNP	A	A	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr10:133106547A>C	ENST00000368642.4	-	3	682	c.597T>G	c.(595-597)gcT>gcG	p.A199A		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	199								p.A158A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		ACAGAGACACAGCTACTTGAT	0.522																																						uc001lkp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(595-597)GCT>GCG		transcription elongation regulator 1-like							67.0	64.0	65.0					10																	133106547		2203	4300	6503	SO:0001819	synonymous_variant	256536							g.chr10:133106547A>C	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.597T>G	10.37:g.133106547A>C							p.A199A	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	3	683	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	199					Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	c.597T>G	CCDS7662.2																																																																																				PASS	0.522	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		21	8	21	8	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1020215	1020215	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:1020215G>T	ENST00000421673.2	-	29	3733	c.3683C>A	c.(3682-3684)aCc>aAc	p.T1228N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1228					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1228N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGATGGTGGTGGAGGTTCC	0.657																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3682-3684)ACC>AAC		mucin 6, gastric							87.0	101.0	96.0					11																	1020215		2093	4212	6305	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1020215G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3683C>A	11.37:g.1020215G>T	ENSP00000406861:p.Thr1228Asn						p.T1228N	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	29	3734	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1228					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3683C>A	CCDS44513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.179|1.179	-0.638716|-0.638716	0.03557|0.03557	.|.	.|.	ENSG00000184956|ENSG00000184956	ENST00000527242|ENST00000421673	.|T	.|0.19938	.|2.11	1.59|1.59	-3.18|-3.18	0.05186|0.05186	.|.	.|.	.|.	.|.	.|.	T|T	0.07863|0.07863	0.0197|0.0197	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.12013	.|0.005	.|B	.|0.12837	.|0.008	T|T	0.22452|0.22452	-1.0216|-1.0216	5|9	.|0.44086	.|T	.|0.13	.|.	0.6892|0.6892	0.00888|0.00888	0.2965:0.3134:0.2234:0.1666|0.2965:0.3134:0.2234:0.1666	.|.	.|1228	.|Q6W4X9	.|MUC6_HUMAN	T|N	33|1228	.|ENSP00000406861:T1228N	.|ENSP00000406861:T1228N	P|T	-|-	1|2	0|0	MUC6|MUC6	1010215|1010215	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	-1.231000|-1.231000	0.02939|0.02939	-2.271000|-2.271000	0.00683|0.00683	0.313000|0.313000	0.20887|0.20887	CCA|ACC		PASS	0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		16	6	16	6	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5411036	5411036	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:5411036G>T	ENST00000328611.3	+	1	430	c.408G>T	c.(406-408)gtG>gtT	p.V136V	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	136					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V136V(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCGCCTTGTGGCCATCTGCC	0.517																																						uc010qzc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(406-408)GTG>GTT		olfactory receptor, family 51, subfamily M,							216.0	207.0	210.0					11																	5411036		2064	4243	6307	SO:0001819	synonymous_variant	390059					integral to membrane	olfactory receptor activity	g.chr11:5411036G>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.408G>T	11.37:g.5411036G>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.V136V	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	408	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	136					Q6IF80	Silent	SNP	ENST00000328611.3	37	c.408G>T	CCDS53596.1																																																																																				PASS	0.517	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		83	37	83	37	---	---	---	---
OR52H1	390067	broad.mit.edu	37	11	5566079	5566079	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:5566079G>T	ENST00000322653.4	-	1	700	c.675C>A	c.(673-675)tcC>tcA	p.S225S	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S225S(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGTGCGTAGGAAACAGCAA	0.507																																						uc010qzh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(673-675)TCC>TCA		olfactory receptor, family 52, subfamily H,							121.0	100.0	107.0					11																	5566079		2201	4297	6498	SO:0001819	synonymous_variant	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566079G>T	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.675C>A	11.37:g.5566079G>T						HBG2_uc001mak.1_Intron	p.S225S	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	675	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	225			Helical; Name=5; (Potential).		B9EH26|Q6IF79	Silent	SNP	ENST00000322653.4	37	c.675C>A	CCDS31386.1																																																																																				PASS	0.507	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		4	28	4	28	---	---	---	---
FAR1	84188	broad.mit.edu	37	11	13729455	13729455	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:13729455T>C	ENST00000354817.3	+	4	518	c.374T>C	c.(373-375)gTt>gCt	p.V125A		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	125					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.V125A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						AGAGATGCTGTTCAGTTAAAT	0.343																																						uc001mld.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(373-375)GTT>GCT		fatty acyl CoA reductase 1							77.0	72.0	74.0					11																	13729455		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13729455T>C	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.374T>C	11.37:g.13729455T>C	ENSP00000346874:p.Val125Ala					FAR1_uc009ygp.2_Missense_Mutation_p.V125A	p.V125A	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			4	529	+			125					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.374T>C	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630494	0.87660	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.30182	1.54;1.54	5.73	5.73	0.89815	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.107041	0.64402	D	0.000007	T	0.34919	0.0914	L	0.53729	1.69	0.80722	D	1	P;P	0.45768	0.866;0.494	B;B	0.42959	0.403;0.314	T	0.15150	-1.0447	10	0.56958	D	0.05	-13.7044	15.6648	0.77221	0.0:0.0:0.0:1.0	.	125;125	E7ETC1;Q8WVX9	.;FACR1_HUMAN	A	125	ENSP00000346874:V125A;ENSP00000437111:V125A	ENSP00000346874:V125A	V	+	2	0	FAR1	13686031	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.040000	0.89188	2.171000	0.68590	0.477000	0.44152	GTT		PASS	0.343	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		16	1	16	1	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14280884	14280884	+	RNA	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:14280884C>A	ENST00000310358.7	+	0	2086							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.C516*(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GCATCTCCTGCGGCATGGGCA	0.632																																						uc001mle.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1549-1551)TGC>TGA		spondin 1, extracellular matrix protein							35.0	38.0	37.0					11																	14280884		2143	4255	6398			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14280884C>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14280884C>A							p.C517*	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	13	2089	+			517			TSP type-1 2.		A8K6W5|O94862|Q8NCD7|Q8WUR5	Nonsense_Mutation	SNP	ENST00000310358.7	37	c.1551C>A		.	.	.	.	.	.	.	.	.	.	C	40	8.246134	0.98724	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.87	0.303	0.15791	.	0.101477	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8662	0.46856	0.0:0.6427:0.0:0.3573	.	.	.	.	X	516	.	ENSP00000309297:C516X	C	+	3	2	SPON1	14237460	0.019000	0.18553	0.996000	0.52242	0.675000	0.39556	-0.871000	0.04223	0.139000	0.18822	0.655000	0.94253	TGC		PASS	0.632	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		8	3	8	3	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20668427	20668428	+	Missense_Mutation	DNP	CC	CC	GG			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:20668427_20668428CC>GG	ENST00000525748.1	+	14	2290_2291	c.2017_2018CC>GG	c.(2017-2019)CCt>GGt	p.P673G	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	673					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P673G(1)|p.P673A(1)|p.P673R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGGATTCCAGCCTAACATCTTC	0.431																																						uc001mqd.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(1)|skin(1)	4						c.(2017-2019)CCT>GCT|c.(2017-2019)CCT>CGT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)																																			SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20668427C>G|g.chr11:20668428C>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	Exception_encountered	11.37:g.20668427_20668428delinsGG	ENSP00000434364:p.Pro673Gly					SLC6A5_uc009yic.2_Missense_Mutation_p.P438A|SLC6A5_uc009yic.2_Missense_Mutation_p.P438R	p.P673A|p.P673R	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			14	2290|2291	+			673					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2017C>G|c.2018C>G	CCDS7854.1																																																																																				PASS	0.431	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		23	12	23	12	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26620410	26620410	+	Silent	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:26620410A>T	ENST00000256737.3	+	16	2388	c.1536A>T	c.(1534-1536)acA>acT	p.T512T	ANO3_ENST00000531568.1_Silent_p.T366T|ANO3_ENST00000537978.1_Silent_p.T496T|ANO3_ENST00000525139.1_Silent_p.T496T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	512					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.T512T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATAGGAAACACTTCGTCCCC	0.393																																						uc001mqt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1534-1536)ACA>ACT		transmembrane protein 16C							64.0	58.0	60.0					11																	26620410		2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26620410A>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1536A>T	11.37:g.26620410A>T						ANO3_uc010rdr.1_Silent_p.T496T|ANO3_uc010rds.1_Silent_p.T351T|ANO3_uc010rdt.1_Silent_p.T366T	p.T512T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			16	1681	+			512			Cytoplasmic (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.1536A>T	CCDS31447.1																																																																																				PASS	0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		6	14	6	14	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433025	55433025	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:55433025T>A	ENST00000314259.3	+	1	412	c.383T>A	c.(382-384)cTg>cAg	p.L128Q		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L128Q(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGTAAGCCCCTGCACTACACG	0.537																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(382-384)CTG>CAG		olfactory receptor, family 4, subfamily C,							106.0	98.0	100.0					11																	55433025		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433025T>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.383T>A	11.37:g.55433025T>A	ENSP00000324769:p.Leu128Gln					OR4C6_uc010rik.1_Missense_Mutation_p.L128Q	p.L128Q	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	648	+			128			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.383T>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248156	0.80024	.	.	ENSG00000181903	ENST00000314259	T	0.01516	4.81	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30830	N	0.008799	T	0.20740	0.0499	H	0.99535	4.615	0.33495	D	0.589215	D	0.89917	1.0	D	0.91635	0.999	T	0.57923	-0.7727	10	0.87932	D	0	.	11.4632	0.50223	0.0:0.0:0.0:1.0	.	128	Q8NH72	OR4C6_HUMAN	Q	128	ENSP00000324769:L128Q	ENSP00000324769:L128Q	L	+	2	0	OR4C6	55189601	0.960000	0.32886	0.998000	0.56505	0.967000	0.64934	6.491000	0.73649	1.383000	0.46405	0.438000	0.28831	CTG		PASS	0.537	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		26	11	26	11	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60704035	60704035	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:60704035G>C	ENST00000453848.2	+	11	2886	c.2728G>C	c.(2728-2730)Gac>Cac	p.D910H	TMEM132A_ENST00000005286.4_Missense_Mutation_p.D911H			Q24JP5	T132A_HUMAN	transmembrane protein 132A	910	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D911H(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGCCAGCTGGACCGGCAGTC	0.721																																						uc001nqj.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2728-2730)GAC>CAC		transmembrane protein 132A isoform b							22.0	26.0	25.0					11																	60704035		2203	4298	6501	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60704035G>C	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2728G>C	11.37:g.60704035G>C	ENSP00000405823:p.Asp910His					TMEM132A_uc001nqi.2_Missense_Mutation_p.D911H|TMEM132A_uc001nqm.2_Missense_Mutation_p.D120H	p.D910H	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			11	2921	+			910			Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2728G>C	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178513	0.57692	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.08370	3.1;3.1	5.04	5.04	0.67666	.	0.087990	0.46758	D	0.000276	T	0.24353	0.0590	L	0.51914	1.62	0.43814	D	0.996376	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.00286	-1.1847	10	0.87932	D	0	-40.6508	16.5569	0.84487	0.0:0.0:1.0:0.0	.	910;911	Q24JP5;Q24JP5-2	T132A_HUMAN;.	H	661;910;911	ENSP00000405823:D910H;ENSP00000005286:D911H	ENSP00000005286:D911H	D	+	1	0	TMEM132A	60460611	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.799000	0.62517	2.516000	0.84829	0.655000	0.94253	GAC		PASS	0.721	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		3	7	3	7	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62416108	62416108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:62416108C>A	ENST00000330574.2	-	2	1496	c.1444G>T	c.(1444-1446)Gga>Tga	p.G482*	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	482					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.G482*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CACAGCTCTCCAACATGGTTT	0.602																																						uc001nud.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1444-1446)GGA>TGA		integrator complex subunit 5							87.0	87.0	87.0					11																	62416108		2202	4299	6501	SO:0001587	stop_gained	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416108C>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1444G>T	11.37:g.62416108C>A	ENSP00000327889:p.Gly482*					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.G482*	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1497	-			482					Q8N6W5|Q9C0G5	Nonsense_Mutation	SNP	ENST00000330574.2	37	c.1444G>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619039	0.87460	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.87	4.87	0.63330	.	0.365080	0.27782	N	0.017873	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.2638	0.49099	0.0:0.8155:0.1844:0.0	.	.	.	.	X	482	.	ENSP00000327889:G482X	G	-	1	0	INTS5	62172684	0.889000	0.30405	0.995000	0.50966	0.958000	0.62258	2.260000	0.43267	2.537000	0.85549	0.655000	0.94253	GGA		PASS	0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		5	76	5	76	---	---	---	---
MRGPRF	116535	broad.mit.edu	37	11	68773711	68773711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:68773711C>A	ENST00000309099.6	-	3	449	c.67G>T	c.(67-69)Gag>Tag	p.E23*	MRGPRF_ENST00000441623.1_Nonsense_Mutation_p.E23*|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E23*(1)		endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCGGGGCCTCGCTCAGGCCA	0.667																																						uc001ooo.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(67-69)GAG>TAG		MAS-related GPR, member F							29.0	34.0	32.0					11																	68773711		2200	4294	6494	SO:0001587	stop_gained	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68773711C>A	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.67G>T	11.37:g.68773711C>A	ENSP00000309782:p.Glu23*					MRGPRF_uc001oop.3_Nonsense_Mutation_p.E23*	p.E23*	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	434	-			23			Extracellular (Potential).		B3KV43|Q8NBK8	Nonsense_Mutation	SNP	ENST00000309099.6	37	c.67G>T	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278139	0.95459	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	.	.	.	4.35	4.35	0.52113	.	0.150917	0.30658	N	0.009148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-24.6112	12.2679	0.54689	0.0:1.0:0.0:0.0	.	.	.	.	X	23	.	ENSP00000309782:E23X	E	-	1	0	MRGPRF	68530287	0.000000	0.05858	0.896000	0.35187	0.304000	0.27724	0.261000	0.18442	2.261000	0.74972	0.561000	0.74099	GAG		PASS	0.667	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		3	9	3	9	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70009436	70009436	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:70009436G>A	ENST00000355303.5	+	19	2245	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	ANO1_ENST00000398543.2_Missense_Mutation_p.R501Q|ANO1_ENST00000316296.5_Missense_Mutation_p.R589Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R501Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R356Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R647Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	647					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.R647Q(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CGTTCCTTCCGAATGGAAGAG	0.517																																						uc001opj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1939-1941)CGA>CAA		anoctamin 1, calcium activated chloride channel							66.0	69.0	68.0					11																	70009436		1943	4129	6072	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70009436G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1940G>A	11.37:g.70009436G>A	ENSP00000347454:p.Arg647Gln					ANO1_uc001opk.1_Missense_Mutation_p.R589Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R356Q	p.R647Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			19	2245	+			647			Extracellular (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1940G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702650	0.88924	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.71222	-0.14;-0.14;-0.14;-0.55;-0.14;-0.14	5.08	5.08	0.68730	.	0.137550	0.48767	D	0.000162	D	0.84674	0.5524	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.85055	0.0931	9	.	.	.	.	18.8833	0.92365	0.0:0.0:1.0:0.0	.	356;589;647	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	Q	647;647;501;405;589;501;356	ENSP00000347454:R647Q;ENSP00000444689:R647Q;ENSP00000381551:R501Q;ENSP00000319477:R589Q;ENSP00000435797:R501Q;ENSP00000432843:R356Q	.	R	+	2	0	ANO1	69687084	1.000000	0.71417	0.988000	0.46212	0.395000	0.30598	8.802000	0.91910	2.535000	0.85469	0.655000	0.94253	CGA		PASS	0.517	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		10	13	10	13	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83344300	83344300	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:83344300C>A	ENST00000532653.1	-	14	1881	c.1579G>T	c.(1579-1581)Ggg>Tgg	p.G527W	DLG2_ENST00000280241.8_Missense_Mutation_p.G566W|DLG2_ENST00000404783.3_Missense_Mutation_p.G9W|DLG2_ENST00000426717.2_Missense_Mutation_p.G9W|DLG2_ENST00000524982.1_Missense_Mutation_p.G527W|DLG2_ENST00000330014.6_Missense_Mutation_p.G466W|DLG2_ENST00000398309.2_Missense_Mutation_p.G527W|DLG2_ENST00000376104.2_Missense_Mutation_p.G632W|DLG2_ENST00000531015.1_Missense_Mutation_p.G494W|DLG2_ENST00000537455.1_Missense_Mutation_p.G281W|DLG2_ENST00000543673.1_Missense_Mutation_p.G632W|DLG2_ENST00000398304.1_Missense_Mutation_p.G9W|DLG2_ENST00000376106.3_Missense_Mutation_p.G9W|DLG2_ENST00000418306.2_Missense_Mutation_p.G424W|DLG2_ENST00000530800.1_Missense_Mutation_p.G36W			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	244	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.G527W(1)|p.G566W(1)|p.G632W(1)|p.G424W(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GATCCGGACCCGGAGCTCATG	0.468																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1579-1581)GGG>TGG		chapsyn-110 isoform 2							144.0	142.0	143.0					11																	83344300		1968	4165	6133	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83344300C>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1579G>T	11.37:g.83344300C>A	ENSP00000435849:p.Gly527Trp					DLG2_uc001pai.2_Missense_Mutation_p.G424W|DLG2_uc010rsy.1_Missense_Mutation_p.G494W|DLG2_uc010rsz.1_Missense_Mutation_p.G527W|DLG2_uc010rta.1_Missense_Mutation_p.G527W|DLG2_uc001pak.2_Missense_Mutation_p.G632W|DLG2_uc010rtb.1_Missense_Mutation_p.G494W|DLG2_uc001pal.1_Missense_Mutation_p.G527W|DLG2_uc010rsw.1_Missense_Mutation_p.G9W|DLG2_uc010rsx.1_Missense_Mutation_p.G8W	p.G527W	NM_001364	NP_001355	Q15700	DLG2_HUMAN			14	1882	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	527					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1579G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.243641	0.95272	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000420775;ENST00000524601;ENST00000398304;ENST00000530800;ENST00000529399;ENST00000434967	D;T;D;D;D;D;T;D;D;T;D;D;D;T;D;D	0.82711	-1.64;2.85;-1.64;-1.64;-1.64;-1.64;3.15;-1.64;-1.64;2.85;-1.64;-1.64;-1.64;1.41;-1.64;-1.64	6.16	6.16	0.99307	Src homology-3 domain (1);	0.072263	0.53938	D	0.000047	D	0.90314	0.6970	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.951;0.99;0.998;0.999;0.986;1.0	D	0.88353	0.2982	9	.	.	.	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	494;527;527;466;9;632;527;424	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	W	527;9;632;424;632;566;9;466;281;9;527;527;632;494;9;9;9;36;9;38	ENSP00000381355:G527W;ENSP00000393049:G9W;ENSP00000365272:G632W;ENSP00000402275:G424W;ENSP00000441994:G632W;ENSP00000280241:G566W;ENSP00000385113:G9W;ENSP00000381353:G466W;ENSP00000443248:G281W;ENSP00000365274:G9W;ENSP00000432894:G527W;ENSP00000435849:G527W;ENSP00000433848:G494W;ENSP00000391017:G9W;ENSP00000436302:G36W;ENSP00000403239:G38W	.	G	-	1	0	DLG2	83021948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	GGG		PASS	0.468	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		25	10	25	10	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	100061878	100061878	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:100061878G>T	ENST00000524871.1	+	14	1891	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	CNTN5_ENST00000528682.1_Missense_Mutation_p.G534V|CNTN5_ENST00000527185.1_Missense_Mutation_p.G534V|CNTN5_ENST00000279463.3_Missense_Mutation_p.G534V|CNTN5_ENST00000418526.2_Missense_Mutation_p.G460V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	534	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.G534V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTCCAGACGGGAGTCTACGG	0.368																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1600-1602)GGG>GTG		contactin 5 isoform long							62.0	61.0	61.0					11																	100061878		1818	4071	5889	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100061878G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1601G>T	11.37:g.100061878G>T	ENSP00000435637:p.Gly534Val					CNTN5_uc009ywv.1_Missense_Mutation_p.G534V|CNTN5_uc001pfz.2_Missense_Mutation_p.G534V|CNTN5_uc001pgb.2_Missense_Mutation_p.G460V|CNTN5_uc010ruk.1_5'UTR	p.G534V	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	14	1940	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	534			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1601G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656359	0.67586	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.142130	0.64402	D	0.000003	T	0.68924	0.3054	H	0.97732	4.065	0.80722	D	1	D;P;P	0.53312	0.959;0.91;0.927	P;P;P	0.53146	0.719;0.597;0.719	T	0.81245	-0.1020	10	0.87932	D	0	.	18.7762	0.91912	0.0:0.0:1.0:0.0	.	534;460;534	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	V	534;534;534;460;534	ENSP00000433575:G534V;ENSP00000436185:G534V;ENSP00000435637:G534V;ENSP00000393229:G460V;ENSP00000279463:G534V	ENSP00000279463:G534V	G	+	2	0	CNTN5	99567088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.422000	0.66453	2.758000	0.94735	0.650000	0.86243	GGG		PASS	0.368	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		18	11	18	11	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105623843	105623843	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:105623843C>G	ENST00000530497.1	+	3	384	c.384C>G	c.(382-384)agC>agG	p.S128R	GRIA4_ENST00000393127.2_Missense_Mutation_p.S128R|GRIA4_ENST00000428631.2_Missense_Mutation_p.S128R|GRIA4_ENST00000282499.5_Missense_Mutation_p.S128R|GRIA4_ENST00000393125.2_Missense_Mutation_p.S128R|GRIA4_ENST00000525187.1_Missense_Mutation_p.S128R			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	128					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.S128R(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGGGGGAGAGCCAGTTTGTGC	0.473																																						uc001pix.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(382-384)AGC>AGG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						157.0	129.0	138.0					11																	105623843		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105623843C>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.384C>G	11.37:g.105623843C>G	ENSP00000435775:p.Ser128Arg					GRIA4_uc001piu.1_Missense_Mutation_p.S128R|GRIA4_uc001piw.2_Missense_Mutation_p.S128R|GRIA4_uc001piv.2_Missense_Mutation_p.S128R|GRIA4_uc009yxk.1_Missense_Mutation_p.S128R	p.S128R	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	4	830	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	128			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.384C>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614922	0.28712	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.51	2.18	0.27775	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	N	0.14661	0.345	0.48288	D	0.999621	B;P;P;B	0.41498	0.03;0.488;0.752;0.332	B;B;P;B	0.47705	0.043;0.305;0.555;0.158	T	0.64896	-0.6299	10	0.17832	T	0.49	.	5.8806	0.18854	0.0:0.5432:0.1497:0.3071	.	128;128;158;128	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	R	128	ENSP00000376833:S128R;ENSP00000282499:S128R;ENSP00000376835:S128R;ENSP00000415551:S128R;ENSP00000432443:S128R;ENSP00000435775:S128R;ENSP00000432180:S128R	ENSP00000282499:S128R	S	+	3	2	GRIA4	105129053	0.676000	0.27567	1.000000	0.80357	0.971000	0.66376	-0.120000	0.10660	0.675000	0.31264	0.655000	0.94253	AGC		PASS	0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			26	11	26	11	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105795143	105795143	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:105795143G>T	ENST00000530497.1	+	11	1495	c.1495G>T	c.(1495-1497)Gcc>Tcc	p.A499S	GRIA4_ENST00000393127.2_Missense_Mutation_p.A499S|GRIA4_ENST00000282499.5_Missense_Mutation_p.A499S|GRIA4_ENST00000525187.1_Missense_Mutation_p.A499S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	499					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A499S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GATTGCTATTGCCCCTCTGAC	0.383																																						uc001pix.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1495-1497)GCC>TCC		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						104.0	105.0	105.0					11																	105795143		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795143G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1495G>T	11.37:g.105795143G>T	ENSP00000435775:p.Ala499Ser					GRIA4_uc001piw.2_Missense_Mutation_p.A499S	p.A499S	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	12	1941	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	499			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1495G>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827052	0.90955	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.76	5.76	0.90799	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000002	T	0.61565	0.2357	L	0.48362	1.52	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.87578	0.926;0.998	T	0.60870	-0.7177	10	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	499;499	P48058;G3V164	GRIA4_HUMAN;.	S	499	ENSP00000282499:A499S;ENSP00000376835:A499S;ENSP00000435775:A499S;ENSP00000432180:A499S	ENSP00000282499:A499S	A	+	1	0	GRIA4	105300353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.882000	0.98803	0.655000	0.94253	GCC		PASS	0.383	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			36	10	36	10	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106680751	106680751	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:106680751C>G	ENST00000526355.2	-	5	2128	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.D554H|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.D575H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	554	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.D554H(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CACTGGTGGTCAAATCTGGTG	0.358																																						uc001pjg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1660-1662)GAC>CAC		guanylate cyclase 1, soluble, alpha 2							72.0	70.0	70.0					11																	106680751		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106680751C>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1660G>C	11.37:g.106680751C>G	ENSP00000431245:p.Asp554His					GUCY1A2_uc010rvo.1_Missense_Mutation_p.D575H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.D554H	p.D554H	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	2050	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	554			Guanylate cyclase.		A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1660G>C	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308378	0.81247	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.83914	-1.78;-1.78;-1.78	5.51	5.51	0.81932	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.45361	U	0.000373	D	0.95915	0.8670	H	0.99789	4.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.98124	1.0427	10	0.87932	D	0	.	18.4077	0.90541	0.0:1.0:0.0:0.0	.	575;554;554	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	H	554;554;575	ENSP00000431245:D554H;ENSP00000282249:D554H;ENSP00000344874:D575H	ENSP00000282249:D554H	D	-	1	0	GUCY1A2	106185961	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	7.818000	0.86416	2.592000	0.87571	0.650000	0.86243	GAC		PASS	0.358	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			4	18	4	18	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108380315	108380315	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:108380315G>T	ENST00000265843.4	-	6	6029	c.5919C>A	c.(5917-5919)acC>acA	p.T1973T	EXPH5_ENST00000428840.1_Silent_p.T1897T|EXPH5_ENST00000525344.1_Silent_p.T1966T|EXPH5_ENST00000443411.1_Silent_p.T1785T	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1973					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.T1973T(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCATCTGTGGTTGTGTCTG	0.403																																						uc001pkk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(5917-5919)ACC>ACA		exophilin 5 isoform a							177.0	176.0	177.0					11																	108380315		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380315G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5919C>A	11.37:g.108380315G>T						EXPH5_uc010rvy.1_Silent_p.T1785T|EXPH5_uc010rvz.1_Silent_p.T1817T|EXPH5_uc010rwa.1_Silent_p.T1897T	p.T1973T	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	6030	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1973					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.5919C>A	CCDS8341.1																																																																																				PASS	0.403	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		6	76	6	76	---	---	---	---
BACE1	23621	broad.mit.edu	37	11	117160476	117160476	+	Silent	SNP	A	A	G	rs138594731	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:117160476A>G	ENST00000313005.6	-	9	1772	c.1312T>C	c.(1312-1314)Ttg>Ctg	p.L438L	BACE1_ENST00000392937.6_Silent_p.L338L|BACE1_ENST00000510630.1_Silent_p.L313L|BACE1_ENST00000428381.2_Silent_p.L369L|BACE1_ENST00000528053.1_Silent_p.L404L|BACE1_ENST00000513780.1_Silent_p.L413L|BACE1_ENST00000445823.2_Silent_p.L394L	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	438					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.L438L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TCCATGTCCAAGGTGACAAAA	0.517													A|||	7	0.00139776	0.0045	0.0014	5008	,	,		22365	0.0		0.0	False		,,,				2504	0.0					uc001pqz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1312-1314)TTG>CTG		beta-site APP-cleaving enzyme 1 isoform A		A	,,,,,	29,4373	35.2+/-66.4	0,29,2172	149.0	129.0	136.0		1012,937,1312,1180,1237,1105	1.4	0.2	11	dbSNP_134	136	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BACE1	NM_001207048.1,NM_001207049.1,NM_012104.4,NM_138971.3,NM_138972.3,NM_138973.3	,,,,,	0,29,6468	GG,GA,AA		0.0,0.6588,0.2232	,,,,,	338/402,313/377,438/502,394/458,413/477,369/433	117160476	29,12965	2201	4296	6497	SO:0001819	synonymous_variant	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117160476A>G	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.1312T>C	11.37:g.117160476A>G						BACE1_uc001pqw.2_Silent_p.L413L|BACE1_uc001pqx.2_Silent_p.L369L|BACE1_uc001pqy.2_Silent_p.L394L|BACE1_uc010rxg.1_Silent_p.L313L|BACE1_uc010rxh.1_Silent_p.L338L|uc010rxi.1_5'Flank	p.L438L	NM_012104	NP_036236	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	9	1773	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	438			Extracellular (Potential).		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	c.1312T>C	CCDS8383.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	7.136	0.580894	0.13686	0.006588	0.0	ENSG00000186318	ENST00000292095	.	.	.	5.65	1.4	0.22301	.	0.940569	0.09088	N	0.850268	T	0.29423	0.0733	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38866	-0.9641	6	0.87932	D	0	.	3.8174	0.08821	0.1427:0.2433:0.4956:0.1185	.	.	.	.	P	199	.	ENSP00000292095:L199P	L	-	2	0	BACE1	116665686	0.000000	0.05858	0.191000	0.23289	0.961000	0.63080	0.141000	0.16076	0.716000	0.32124	-0.132000	0.14878	CTT		PASS	0.517	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			15	7	15	7	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440879	124440879	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:124440879C>A	ENST00000284287.3	+	1	987	c.915C>A	c.(913-915)atC>atA	p.I305I		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	305					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I305I(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ATCCCCTAATCTACAGCCTGA	0.443																																						uc010san.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(913-915)ATC>ATA		olfactory receptor, family 8, subfamily A,							72.0	65.0	68.0					11																	124440879		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440879C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.915C>A	11.37:g.124440879C>A							p.I305I	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	915	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	305			Helical; Name=7; (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.915C>A	CCDS31712.1																																																																																				PASS	0.443	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		20	8	20	8	---	---	---	---
PATE1	160065	broad.mit.edu	37	11	125618497	125618497	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:125618497G>T	ENST00000305738.5	+	5	262	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	PATE1_ENST00000437148.2_Missense_Mutation_p.D72Y	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	84						extracellular region (GO:0005576)		p.D84Y(1)		large_intestine(1)|lung(5)	6						CTCCACAGGGGATGGTAATCC	0.448																																						uc001qct.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GAT>TAT		expressed in prostate and testis precursor							114.0	94.0	101.0					11																	125618497		2201	4299	6500	SO:0001583	missense	160065					extracellular region		g.chr11:125618497G>T	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"""PATE family"""	24664	protein-coding gene	gene with protein product	"""expressed in prostate and testis"""	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.250G>T	11.37:g.125618497G>T	ENSP00000307164:p.Asp84Tyr					PATE1_uc009zbr.2_Missense_Mutation_p.D72Y	p.D84Y	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN			5	262	+			84					Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	c.250G>T	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	G	8.035	0.762621	0.15914	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.39406	1.08;1.08	4.07	-2.36	0.06663	.	0.536026	0.15568	N	0.255610	T	0.43366	0.1244	L	0.39898	1.24	0.09310	N	0.999991	D;D	0.76494	0.99;0.999	D;D	0.63192	0.912;0.912	T	0.32745	-0.9895	10	0.66056	D	0.02	-3.6621	5.1259	0.14884	0.4621:0.1647:0.3732:0.0	.	72;84	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	Y	84;72	ENSP00000307164:D84Y;ENSP00000396056:D72Y	ENSP00000307164:D84Y	D	+	1	0	PATE1	125123707	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.056000	0.14256	-0.469000	0.06911	-1.124000	0.02001	GAT		PASS	0.448	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		13	8	13	8	---	---	---	---
FAM118B	79607	broad.mit.edu	37	11	126126634	126126634	+	Missense_Mutation	SNP	G	G	T	rs377146318		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:126126634G>T	ENST00000533050.1	+	7	1362	c.869G>T	c.(868-870)cGa>cTa	p.R290L	FAM118B_ENST00000360194.4_Missense_Mutation_p.R290L|FAM118B_ENST00000529731.1_Missense_Mutation_p.R214L	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	290								p.R290L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AAAAAGCTTCGAGAAAACATG	0.443																																						uc001qdf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)CGA>CTA		hypothetical protein LOC79607							137.0	141.0	139.0					11																	126126634		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126126634G>T	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.869G>T	11.37:g.126126634G>T	ENSP00000433343:p.Arg290Leu					FAM118B_uc009zca.2_Missense_Mutation_p.R294L|FAM118B_uc001qdg.2_Missense_Mutation_p.R290L	p.R290L	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1052	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	290					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.869G>T	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193874	0.78902	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000525338	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.14	2.27	0.28462	.	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	N	0.19112	0.55	0.58432	D	0.99999	B;D;D	0.64830	0.0;0.994;0.993	B;D;D	0.74023	0.001;0.982;0.946	T	0.04400	-1.0954	10	0.41790	T	0.15	-25.5964	7.7098	0.28671	0.1398:0.0:0.7267:0.1335	.	214;290;290	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	L	290;290;214;290;214	ENSP00000433343:R290L;ENSP00000434952:R290L;ENSP00000432712:R214L;ENSP00000353321:R290L;ENSP00000435754:R214L	ENSP00000353321:R290L	R	+	2	0	FAM118B	125631844	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.420000	0.97426	0.335000	0.23614	-0.218000	0.12543	CGA		PASS	0.443	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		4	99	4	99	---	---	---	---
ZNF705A	440077	broad.mit.edu	37	12	8330139	8330139	+	Missense_Mutation	SNP	T	T	A	rs377688583		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:8330139T>A	ENST00000359286.4	+	5	952	c.863T>A	c.(862-864)cTa>cAa	p.L288Q	FAM66C_ENST00000456135.2_RNA|FAM66C_ENST00000541558.1_RNA|FAM66C_ENST00000454799.2_RNA|FAM66C_ENST00000544214.1_RNA	NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L288Q(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		GCTTGTCTTCTATGTGGGAAG	0.418																																						uc001qud.1																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)CTA>CAA		zinc finger protein 705A							25.0	23.0	24.0					12																	8330139		1827	3714	5541	SO:0001583	missense	440077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:8330139T>A	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.863T>A	12.37:g.8330139T>A	ENSP00000352233:p.Leu288Gln					FAM66C_uc001que.3_5'Flank|FAM66C_uc001quf.3_5'Flank|FAM66C_uc009zgc.2_5'Flank|FAM66C_uc001qug.3_5'Flank	p.L288Q	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN		Kidney(36;0.0877)	5	935	+			288						Missense_Mutation	SNP	ENST00000359286.4	37	c.863T>A	CCDS31737.1	.	.	.	.	.	.	.	.	.	.	.	7.064	0.567058	0.13560	.	.	ENSG00000196946	ENST00000359286	T	0.20463	2.07	1.35	-2.7	0.06004	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	N	0.05414	-0.055	0.09310	N	1	B	0.21071	0.051	B	0.20955	0.032	T	0.35126	-0.9801	8	.	.	.	.	3.698	0.08372	0.5782:0.0:0.193:0.2287	.	288	Q6ZN79	Z705A_HUMAN	Q	288	ENSP00000352233:L288Q	.	L	+	2	0	ZNF705A	8221406	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.029000	0.13666	-1.419000	0.02012	-0.910000	0.02820	CTA		PASS	0.418	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		9	46	9	46	---	---	---	---
CLEC4E	26253	broad.mit.edu	37	12	8689737	8689737	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:8689737C>A	ENST00000299663.3	-	4	511	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	CLEC4E_ENST00000545274.1_Intron|CLEC4E_ENST00000446457.2_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	116	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.V116L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TTGATAACCACCAGGTGAGCC	0.478																																						uc001quo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(346-348)GTG>TTG		C-type lectin domain family 4, member E							85.0	81.0	82.0					12																	8689737		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8689737C>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.346G>T	12.37:g.8689737C>A	ENSP00000299663:p.Val116Leu						p.V116L	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			4	511	-	Lung SC(5;0.184)		116			C-type lectin.|Extracellular (Potential).		B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.346G>T	CCDS8594.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.89|15.89	2.966291|2.966291	0.53507|0.53507	.|.	.|.	ENSG00000166523|ENSG00000166523	ENST00000299663|ENST00000537698	T|.	0.18810|.	2.19|.	5.01|5.01	5.01|5.01	0.66863|0.66863	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	0.126179|.	0.36134|.	N|.	0.002771|.	T|T	0.70263|0.70263	0.3204|0.3204	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.59948|.	0.866|.	T|T	0.68213|0.68213	-0.5468|-0.5468	10|5	0.39692|.	T|.	0.17|.	.|.	14.0225|14.0225	0.64565|0.64565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116|.	Q9ULY5|.	CLC4E_HUMAN|.	L|C	116|55	ENSP00000299663:V116L|.	ENSP00000299663:V116L|.	V|W	-|-	1|3	0|0	CLEC4E|CLEC4E	8581004|8581004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.186000|0.186000	0.23388|0.23388	3.776000|3.776000	0.55356|0.55356	2.777000|2.777000	0.95525|0.95525	0.591000|0.591000	0.81541|0.81541	GTG|TGG		PASS	0.478	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		20	14	20	14	---	---	---	---
CLEC1B	51266	broad.mit.edu	37	12	10149584	10149584	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:10149584C>A	ENST00000298527.6	-	4	478	c.299G>T	c.(298-300)aGc>aTc	p.S100I	CLEC1B_ENST00000348658.4_Missense_Mutation_p.S67I|CLEC1B_ENST00000428126.2_Missense_Mutation_p.S67I	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	100					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S100I(1)|p.S4I(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GTCACAGGGGCTGCATTTATG	0.413																																						uc001qwu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(298-300)AGC>ATC		C-type lectin domain family 1, member B isoform							148.0	130.0	135.0					12																	10149584		1865	4119	5984	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149584C>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.299G>T	12.37:g.10149584C>A	ENSP00000298527:p.Ser100Ile					CLEC1B_uc009zhd.2_Missense_Mutation_p.S67I	p.S100I	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			4	499	-			100			Extracellular (Potential).		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.299G>T	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938567	0.52972	.	.	ENSG00000165682	ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.05	-0.489	0.12052	C-type lectin-like (1);	0.355351	0.27420	N	0.019455	T	0.30792	0.0776	M	0.80183	2.485	0.26101	N	0.980813	D;D	0.76494	0.999;0.999	D;P	0.64042	0.921;0.878	T	0.09292	-1.0681	10	0.52906	T	0.07	.	2.8275	0.05489	0.2013:0.4292:0.0:0.3695	.	67;100	Q9P126-2;Q9P126	.;CLC1B_HUMAN	I	7;67;100;67;4	ENSP00000381910:S7I;ENSP00000406338:S67I;ENSP00000298527:S100I;ENSP00000327169:S67I	ENSP00000298527:S100I	S	-	2	0	CLEC1B	10040851	0.994000	0.37717	0.930000	0.37139	0.933000	0.57130	0.369000	0.20416	0.019000	0.15079	0.491000	0.48974	AGC		PASS	0.413	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		33	44	33	44	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14633957	14633957	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:14633957A>G	ENST00000540793.1	+	12	3273	c.3118A>G	c.(3118-3120)Aca>Gca	p.T1040A	ATF7IP_ENST00000543189.1_Missense_Mutation_p.T1039A|ATF7IP_ENST00000536444.1_Missense_Mutation_p.T1039A|ATF7IP_ENST00000261168.4_Missense_Mutation_p.T1040A|ATF7IP_ENST00000544627.1_Missense_Mutation_p.T1048A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1040					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.T1040A(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CGTGAATGTAACACATCGTCC	0.423																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(3118-3120)ACA>GCA		activating transcription factor 7 interacting							111.0	111.0	111.0					12																	14633957		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14633957A>G	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3118A>G	12.37:g.14633957A>G	ENSP00000444589:p.Thr1040Ala					ATF7IP_uc001rbv.1_Missense_Mutation_p.T1039A|ATF7IP_uc001rbx.2_Missense_Mutation_p.T1039A|ATF7IP_uc001rby.3_Missense_Mutation_p.T1040A|ATF7IP_uc001rca.2_Missense_Mutation_p.T1040A	p.T1040A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			13	3276	+			1040					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3118A>G	CCDS8663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.9|22.9	4.346570|4.346570	0.82022|0.82022	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000535738|ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.|T;T;T;T;T	.|0.27720	.|1.92;1.65;1.93;1.92;1.92	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.52597|0.52597	0.1744|0.1744	L|L	0.59436|0.59436	1.845|1.845	0.47819|0.47819	D|D	0.999521|0.999521	.|D;D;D	.|0.89917	.|0.996;0.996;1.0	.|D;D;D	.|0.85130	.|0.987;0.987;0.997	T|T	0.53514|0.53514	-0.8428|-0.8428	5|10	.|0.59425	.|D	.|0.04	-14.2256|-14.2256	15.7733|15.7733	0.78190|0.78190	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1039;1040;1039	.|G3V1U0;Q6VMQ6;Q6VMQ6-2	.|.;MCAF1_HUMAN;.	S|A	53|1040;1039;1039;1048;1040	.|ENSP00000261168:T1040A;ENSP00000443179:T1039A;ENSP00000445955:T1039A;ENSP00000440440:T1048A;ENSP00000444589:T1040A	.|ENSP00000261168:T1040A	N|T	+|+	2|1	0|0	ATF7IP|ATF7IP	14525224|14525224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	6.034000|6.034000	0.70933|0.70933	2.174000|2.174000	0.68829|0.68829	0.528000|0.528000	0.53228|0.53228	AAC|ACA		PASS	0.423	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		41	65	41	65	---	---	---	---
FAM60A	58516	broad.mit.edu	37	12	31448254	31448254	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:31448254G>T	ENST00000337682.4	-	3	510	c.142C>A	c.(142-144)Cgt>Agt	p.R48S	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.R48S	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	48					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)		p.R48S(1)		large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TCTCCTGAACGAGTCTCATGC	0.383																																						uc010sjz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)CGT>AGT		family with sequence similarity 60, member A							71.0	67.0	68.0					12																	31448254		2203	4300	6503	SO:0001583	missense	58516							g.chr12:31448254G>T	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.142C>A	12.37:g.31448254G>T	ENSP00000337477:p.Arg48Ser					FAM60A_uc001rkd.2_Missense_Mutation_p.R48S|FAM60A_uc010ska.1_Missense_Mutation_p.R48S|FAM60A_uc001rke.2_Missense_Mutation_p.R48S|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.R73S	p.R48S	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN			3	381	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		48					D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	c.142C>A	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747320	0.69533	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	M	0.81112	2.525	0.80722	D	1	B;D	0.62365	0.3;0.991	B;P	0.60345	0.092;0.873	T	0.82758	-0.0299	10	0.87932	D	0	.	17.8807	0.88840	0.0:0.0:1.0:0.0	.	48;89	Q9NP50;B7Z287	FA60A_HUMAN;.	S	48;48;89;48;48	ENSP00000337477:R48S;ENSP00000393279:R48S;ENSP00000443881:R48S;ENSP00000437363:R48S	ENSP00000337477:R48S	R	-	1	0	FAM60A	31339521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.637000	0.98443	2.285000	0.76669	0.561000	0.74099	CGT		PASS	0.383	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		4	44	4	44	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40692290	40692290	+	Missense_Mutation	SNP	A	A	T	rs35808389		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:40692290A>T	ENST00000298910.7	+	24	3400	c.3342A>T	c.(3340-3342)ttA>ttT	p.L1114F	LRRK2_ENST00000343742.2_Missense_Mutation_p.L1114F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1114					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L1114F(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCTCATTTTAGAAGGGTAAG	0.353																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	GRCh37	CS053469	LRRK2	S	rs35808389	c.(3340-3342)TTA>TTT		leucine-rich repeat kinase 2							93.0	94.0	94.0					12																	40692290		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40692290A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3342A>T	12.37:g.40692290A>T	ENSP00000298910:p.Leu1114Phe					LRRK2_uc001rmh.1_Missense_Mutation_p.L736F|LRRK2_uc009zjw.2_5'UTR	p.L1114F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			24	3463	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1114			LRR 6.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3342A>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369035	0.61624	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.35973	1.52;1.28	5.76	1.83	0.25207	.	0.393472	0.25296	N	0.031699	T	0.59797	0.2220	M	0.88842	2.985	0.52501	D	0.999954	D;D	0.71674	0.998;0.998	P;D	0.65684	0.905;0.937	T	0.63193	-0.6692	10	0.72032	D	0.01	.	9.7364	0.40390	0.5549:0.0:0.4451:0.0	.	1114;1114	E9PC85;Q5S007	.;LRRK2_HUMAN	F	1114	ENSP00000341930:L1114F;ENSP00000298910:L1114F	ENSP00000298910:L1114F	L	+	3	2	LRRK2	38978557	0.998000	0.40836	0.933000	0.37362	0.844000	0.47949	0.569000	0.23638	0.369000	0.24510	0.482000	0.46254	TTA		PASS	0.353	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		46	61	46	61	---	---	---	---
PPHLN1	51535	broad.mit.edu	37	12	42729762	42729762	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:42729762C>A	ENST00000395568.2	+	2	142	c.58C>A	c.(58-60)Cga>Aga	p.R20R	PPHLN1_ENST00000317560.9_Silent_p.R27R|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000395580.3_Silent_p.R27R|PPHLN1_ENST00000549190.1_Silent_p.R38R|PPHLN1_ENST00000449194.2_Silent_p.R20R|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Silent_p.R20R|PPHLN1_ENST00000358314.7_Silent_p.R20R|PPHLN1_ENST00000432191.2_Silent_p.R20R|PPHLN1_ENST00000552761.1_Silent_p.R27R	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	20					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R20R(2)|p.R27R(1)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGCACCTCCTCGAAGTCATCC	0.368																																						uc001rng.1																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|breast(1)	2						c.(58-60)CGA>AGA		periphilin 1 isoform 1							118.0	122.0	120.0					12																	42729762		2203	4300	6503	SO:0001819	synonymous_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42729762C>A	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.58C>A	12.37:g.42729762C>A						PPHLN1_uc001rmy.2_Silent_p.R38R|PPHLN1_uc001rna.2_Silent_p.R27R|PPHLN1_uc001rne.2_Silent_p.R27R|PPHLN1_uc001rnb.2_Silent_p.R27R|PPHLN1_uc001rnd.2_Silent_p.R27R|PPHLN1_uc001rnc.2_Silent_p.R20R|PPHLN1_uc001rnf.2_Silent_p.R20R|PPHLN1_uc010skq.1_Silent_p.R20R|PPHLN1_uc010skr.1_Silent_p.R20R|PPHLN1_uc010sks.1_Silent_p.R20R|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Silent_p.R20R|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Silent_p.R27R	p.R20R	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	2	163	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	20					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	c.58C>A	CCDS31777.1																																																																																				PASS	0.368	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		4	97	4	97	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49949466	49949466	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:49949466G>C	ENST00000257981.6	+	12	2460	c.2200G>C	c.(2200-2202)Gat>Cat	p.D734H	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	734					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.D734H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GAAGGAGACAGATGGGGAGCA	0.637																																						uc001ruh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2200-2202)GAT>CAT		potassium voltage-gated channel, subfamily H							39.0	35.0	37.0					12																	49949466		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49949466G>C	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2200G>C	12.37:g.49949466G>C	ENSP00000257981:p.Asp734His					KCNH3_uc010smj.1_Missense_Mutation_p.D674H	p.D734H	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			12	2460	+			734			Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2200G>C	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402708	0.42613	.	.	ENSG00000135519	ENST00000257981	D	0.98862	-5.19	4.71	3.79	0.43588	.	0.000000	0.49916	D	0.000128	D	0.93936	0.8059	N	0.08118	0	0.34387	D	0.693721	P	0.43701	0.815	B	0.37198	0.243	D	0.95671	0.8723	10	0.48119	T	0.1	.	11.2658	0.49110	0.0:0.1858:0.8142:0.0	.	734	Q9ULD8	KCNH3_HUMAN	H	734	ENSP00000257981:D734H	ENSP00000257981:D734H	D	+	1	0	KCNH3	48235733	0.996000	0.38824	0.892000	0.35008	0.993000	0.82548	3.736000	0.55052	1.256000	0.44068	0.655000	0.94253	GAT		PASS	0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		5	20	5	20	---	---	---	---
KRT84	3890	broad.mit.edu	37	12	52778981	52778981	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:52778981C>A	ENST00000257951.3	-	1	455	c.389G>T	c.(388-390)gGa>gTa	p.G130V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	130	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.G130V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTGGGACTCCAACCCCTCC	0.572																																						uc001sah.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(388-390)GGA>GTA		keratin, hair, basic, 4							169.0	166.0	167.0					12																	52778981		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52778981C>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.389G>T	12.37:g.52778981C>A	ENSP00000257951:p.Gly130Val						p.G130V	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	437	-	all_hematologic(5;0.12)		130			Head.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.389G>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061513	0.36373	.	.	ENSG00000161849	ENST00000257951	D	0.95205	-3.64	5.15	5.15	0.70609	.	0.138816	0.33712	N	0.004636	D	0.94039	0.8090	L	0.39514	1.22	0.58432	D	0.999998	D	0.63880	0.993	P	0.60949	0.881	D	0.90344	0.4361	10	0.07325	T	0.83	.	15.8565	0.78983	0.0:1.0:0.0:0.0	.	130	Q9NSB2	KRT84_HUMAN	V	130	ENSP00000257951:G130V	ENSP00000257951:G130V	G	-	2	0	KRT84	51065248	0.002000	0.14202	0.785000	0.31869	0.589000	0.36550	0.781000	0.26774	2.849000	0.98006	0.609000	0.83330	GGA		PASS	0.572	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		58	81	58	81	---	---	---	---
KRT74	121391	broad.mit.edu	37	12	52962040	52962040	+	Missense_Mutation	SNP	C	C	G	rs139298074		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:52962040C>G	ENST00000305620.2	-	7	1315	c.1268G>C	c.(1267-1269)cGc>cCc	p.R423P	KRT74_ENST00000549343.1_Missense_Mutation_p.R437P	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	423	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.R423P(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGGTACTCGCGCAGCATCCG	0.652																																						uc001sap.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1267-1269)CGC>CCC		keratin 6 irs4							90.0	81.0	84.0					12																	52962040		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52962040C>G	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1268G>C	12.37:g.52962040C>G	ENSP00000307240:p.Arg423Pro						p.R423P	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	7	1316	-			423			Rod.|Coil 2.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.1268G>C	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049348	0.75846	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.89875	-2.58;-2.58	4.57	3.67	0.42095	Filament (1);	0.000000	0.35096	N	0.003450	D	0.94512	0.8233	M	0.91300	3.195	0.35529	D	0.802088	D	0.62365	0.991	D	0.68483	0.958	D	0.96443	0.9328	10	0.87932	D	0	.	9.8249	0.40905	0.0:0.8378:0.0:0.1622	.	423	Q7RTS7	K2C74_HUMAN	P	437;423	ENSP00000447447:R437P;ENSP00000307240:R423P	ENSP00000307240:R423P	R	-	2	0	KRT74	51248307	0.042000	0.20092	0.960000	0.40013	0.975000	0.68041	2.153000	0.42282	1.230000	0.43646	0.655000	0.94253	CGC		PASS	0.652	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		24	44	24	44	---	---	---	---
KRT74	121391	broad.mit.edu	37	12	52967522	52967522	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:52967522C>A	ENST00000305620.2	-	1	87	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	KRT74_ENST00000549343.1_Missense_Mutation_p.G14C	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	14	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.G14C(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGAAGTTGCCCTTGTCACCA	0.557																																						uc001sap.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(40-42)GGC>TGC		keratin 6 irs4							65.0	62.0	63.0					12																	52967522		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52967522C>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.40G>T	12.37:g.52967522C>A	ENSP00000307240:p.Gly14Cys						p.G14C	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	1	88	-			14			Head.|Gly-rich.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.40G>T	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901970	0.52227	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.19532	2.14;2.14	4.51	3.6	0.41247	.	0.238872	0.21855	N	0.068102	T	0.36635	0.0974	L	0.54965	1.715	0.22851	N	0.998656	D	0.63046	0.992	P	0.60886	0.88	T	0.11792	-1.0573	10	0.54805	T	0.06	.	13.421	0.60998	0.0:0.6791:0.3209:0.0	.	14	Q7RTS7	K2C74_HUMAN	C	14	ENSP00000447447:G14C;ENSP00000307240:G14C	ENSP00000307240:G14C	G	-	1	0	KRT74	51253789	0.000000	0.05858	0.935000	0.37517	0.944000	0.59088	0.209000	0.17435	1.174000	0.42811	0.561000	0.74099	GGC		PASS	0.557	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		32	37	32	37	---	---	---	---
KRT77	374454	broad.mit.edu	37	12	53091506	53091506	+	Missense_Mutation	SNP	C	C	A	rs573529190		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:53091506C>A	ENST00000341809.3	-	2	746	c.718G>T	c.(718-720)Gtc>Ttc	p.V240F	KRT77_ENST00000537195.1_Missense_Mutation_p.V7F|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	240	Coil 1B.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V240F(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ATGCTCCTGACCTCCGCGTTC	0.592																																						uc001saw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(718-720)GTC>TTC		keratin 77							307.0	289.0	295.0					12																	53091506		2203	4300	6503	SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53091506C>A	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.718G>T	12.37:g.53091506C>A	ENSP00000342710:p.Val240Phe					KRT77_uc009zmi.2_5'UTR	p.V240F	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN			2	747	-			240			Coil 1B.|Rod.		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	c.718G>T	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573416	0.65765	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.89415	-2.41;-2.51	4.4	-5.04	0.02964	Filament (1);	.	.	.	.	D	0.83968	0.5369	L	0.29908	0.895	0.09310	N	1	P	0.47191	0.891	P	0.54889	0.763	T	0.74074	-0.3782	9	0.87932	D	0	.	1.4299	0.02331	0.1879:0.1537:0.1849:0.4735	.	240	Q7Z794	K2C1B_HUMAN	F	240;7	ENSP00000342710:V240F;ENSP00000440803:V7F	ENSP00000342710:V240F	V	-	1	0	KRT77	51377773	0.007000	0.16637	0.001000	0.08648	0.925000	0.55904	0.494000	0.22467	-0.805000	0.04404	0.561000	0.74099	GTC		PASS	0.592	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		30	331	30	331	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759748	55759748	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:55759748C>T	ENST00000343399.3	+	1	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P285L(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTCTTGAATCCCTTCATATAC	0.383																																						uc010spk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(853-855)CCC>CTC		olfactory receptor, family 6, subfamily C,							74.0	66.0	69.0					12																	55759748		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759748C>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.854C>T	12.37:g.55759748C>T	ENSP00000368987:p.Pro285Leu						p.P285L	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	854	+			285			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000343399.3	37	c.854C>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	c	19.53	3.844183	0.71488	.	.	ENSG00000187857	ENST00000343399	T	0.63417	-0.04	5.22	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	U	0.000547	D	0.82802	0.5116	M	0.92077	3.27	0.49798	D	0.999822	D	0.89917	1.0	D	0.97110	1.0	D	0.87002	0.2117	10	0.87932	D	0	.	13.4032	0.60896	0.0:0.9239:0.0:0.0761	.	285	A6NL08	O6C75_HUMAN	L	285	ENSP00000368987:P285L	ENSP00000368987:P285L	P	+	2	0	OR6C75	54046015	0.996000	0.38824	0.933000	0.37362	0.987000	0.75469	4.013000	0.57138	1.445000	0.47624	0.632000	0.83419	CCC		PASS	0.383	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			12	49	12	49	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62894643	62894643	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:62894643G>T	ENST00000393632.2	+	6	1037	c.646G>T	c.(646-648)Gca>Tca	p.A216S	MON2_ENST00000393630.3_Missense_Mutation_p.A216S|MON2_ENST00000546600.1_Missense_Mutation_p.A216S|MON2_ENST00000280379.6_Missense_Mutation_p.A216S|MON2_ENST00000552738.1_Missense_Mutation_p.A216S|MON2_ENST00000552115.1_Missense_Mutation_p.A216S|MON2_ENST00000393629.2_Missense_Mutation_p.A216S|MON2_ENST00000549378.1_3'UTR	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	216					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A216S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGCTAAAGATGCATATATGCT	0.303																																						uc001sre.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(646-648)GCA>TCA		MON2 homolog							93.0	90.0	91.0					12																	62894643		2203	4298	6501	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62894643G>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.646G>T	12.37:g.62894643G>T	ENSP00000377252:p.Ala216Ser					MON2_uc009zqj.2_Missense_Mutation_p.A216S|MON2_uc010ssl.1_Missense_Mutation_p.A144S|MON2_uc010ssm.1_Missense_Mutation_p.A216S|MON2_uc010ssn.1_Missense_Mutation_p.A216S|MON2_uc001srf.2_5'Flank|MON2_uc001srd.1_Missense_Mutation_p.A108S	p.A216S	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	6	1037	+			216					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.646G>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922012	0.92319	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.70399	-0.15;-0.48;-0.48;-0.15;-0.15;-0.48;0.62	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.86602	0.5972	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.993;0.998;1.0;1.0	D;D;D;D;D	0.83275	0.988;0.94;0.974;0.993;0.996	D	0.88075	0.2803	9	.	.	.	-15.4774	18.8131	0.92065	0.0:0.0:1.0:0.0	.	216;216;216;216;216	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4;Q7Z3U7	.;.;.;.;MON2_HUMAN	S	216;216;216;216;144;216;216;216	ENSP00000377252:A216S;ENSP00000377250:A216S;ENSP00000280379:A216S;ENSP00000447407:A216S;ENSP00000449215:A216S;ENSP00000377249:A216S;ENSP00000446635:A216S	.	A	+	1	0	MON2	61180910	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.867000	0.99620	2.456000	0.83038	0.555000	0.69702	GCA		PASS	0.303	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		32	41	32	41	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62894645	62894645	+	Silent	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:62894645A>T	ENST00000393632.2	+	6	1039	c.648A>T	c.(646-648)gcA>gcT	p.A216A	MON2_ENST00000393630.3_Silent_p.A216A|MON2_ENST00000546600.1_Silent_p.A216A|MON2_ENST00000280379.6_Silent_p.A216A|MON2_ENST00000552738.1_Silent_p.A216A|MON2_ENST00000552115.1_Silent_p.A216A|MON2_ENST00000393629.2_Silent_p.A216A|MON2_ENST00000549378.1_3'UTR	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	216					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A216A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTAAAGATGCATATATGCTTT	0.294																																						uc001sre.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(646-648)GCA>GCT		MON2 homolog							90.0	88.0	89.0					12																	62894645		2203	4298	6501	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62894645A>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.648A>T	12.37:g.62894645A>T						MON2_uc009zqj.2_Silent_p.A216A|MON2_uc010ssl.1_Silent_p.A144A|MON2_uc010ssm.1_Silent_p.A216A|MON2_uc010ssn.1_Silent_p.A216A|MON2_uc001srf.2_5'Flank|MON2_uc001srd.1_Silent_p.A108A	p.A216A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	6	1039	+			216					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.648A>T	CCDS31849.1																																																																																				PASS	0.294	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		32	41	32	41	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71095029	71095029	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:71095029G>A	ENST00000283228.2	-	7	1534	c.1082C>T	c.(1081-1083)aCa>aTa	p.T361I	PTPRR_ENST00000378778.1_Missense_Mutation_p.T155I|PTPRR_ENST00000549308.1_Missense_Mutation_p.T116I|PTPRR_ENST00000440835.2_Missense_Mutation_p.T116I|PTPRR_ENST00000342084.4_Missense_Mutation_p.T249I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	361					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T361I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTCCCGTGGTGTTGGTATAGA	0.463																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1081-1083)ACA>ATA		protein tyrosine phosphatase, receptor type, R							152.0	132.0	139.0					12																	71095029		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71095029G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1082C>T	12.37:g.71095029G>A	ENSP00000283228:p.Thr361Ile					PTPRR_uc001swh.1_Missense_Mutation_p.T116I|PTPRR_uc009zrs.2_Missense_Mutation_p.T210I|PTPRR_uc010stq.1_Missense_Mutation_p.T249I|PTPRR_uc010str.1_Missense_Mutation_p.T210I	p.T361I	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1498	-			361			Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1082C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131078	0.37630	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.25749	4.01;3.8;3.98;3.97;4.01;1.78	5.59	3.7	0.42460	.	0.235442	0.29459	N	0.012098	T	0.20495	0.0493	L	0.41492	1.28	0.45025	D	0.998043	B;B;B;B	0.27498	0.18;0.011;0.005;0.022	B;B;B;B	0.23150	0.044;0.015;0.011;0.012	T	0.05435	-1.0885	10	0.49607	T	0.09	-12.0867	11.0759	0.48032	0.0698:0.1303:0.7999:0.0	.	210;249;155;361	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	I	116;361;155;249;116;116	ENSP00000391750:T116I;ENSP00000283228:T361I;ENSP00000368054:T155I;ENSP00000339605:T249I;ENSP00000446943:T116I;ENSP00000449616:T116I	ENSP00000283228:T361I	T	-	2	0	PTPRR	69381296	1.000000	0.71417	0.968000	0.41197	0.462000	0.32619	5.681000	0.68175	1.455000	0.47813	0.557000	0.71058	ACA		PASS	0.463	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		6	78	6	78	---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77419463	77419463	+	Missense_Mutation	SNP	G	G	A	rs566695974	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:77419463G>A	ENST00000322886.7	-	12	2675	c.2440C>T	c.(2440-2442)Cct>Tct	p.P814S	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	814					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P814S(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGAAGCTGAGGGTCTGCAGAA	0.537													G|||	5	0.000998403	0.0	0.0	5008	,	,		19050	0.0		0.0	False		,,,				2504	0.0051					uc001sym.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(2440-2442)CCT>TCT		E2F transcription factor 7							158.0	140.0	146.0					12																	77419463		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77419463G>A	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2440C>T	12.37:g.77419463G>A	ENSP00000323246:p.Pro814Ser					E2F7_uc009zse.2_Intron	p.P814S	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			12	2676	-			814					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.2440C>T	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864299	0.32977	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.15256	2.44	5.92	5.03	0.67393	.	0.318240	0.29900	N	0.010911	T	0.14917	0.0360	L	0.29908	0.895	0.80722	D	1	P	0.48589	0.912	B	0.43754	0.43	T	0.06716	-1.0811	10	0.16896	T	0.51	-8.2554	14.7477	0.69501	0.0:0.1438:0.8562:0.0	.	814	Q96AV8	E2F7_HUMAN	S	814;285	ENSP00000323246:P814S	ENSP00000323246:P814S	P	-	1	0	E2F7	75943594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.726000	0.38085	1.518000	0.48934	0.655000	0.94253	CCT		PASS	0.537	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		17	52	17	52	---	---	---	---
MGAT4C	25834	broad.mit.edu	37	12	86373490	86373490	+	Silent	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:86373490A>T	ENST00000604798.1	-	8	2218	c.1014T>A	c.(1012-1014)ccT>ccA	p.P338P	MGAT4C_ENST00000332156.1_Silent_p.P338P|MGAT4C_ENST00000393205.2_Silent_p.P367P|MGAT4C_ENST00000548651.1_Silent_p.P338P|MGAT4C_ENST00000549405.2_Silent_p.P338P|MGAT4C_ENST00000552808.2_Silent_p.P338P			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	338					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.P338P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGGGGTTATCAGGAATGTCAA	0.408																																						uc001tai.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1012-1014)CCT>CCA		alpha-1,3-mannosyl-glycoprotein							75.0	72.0	73.0					12																	86373490		2203	4300	6503	SO:0001819	synonymous_variant	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373490A>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1014T>A	12.37:g.86373490A>T						MGAT4C_uc001tal.3_Silent_p.P338P|MGAT4C_uc001taj.3_Silent_p.P338P|MGAT4C_uc001tak.3_Silent_p.P338P|MGAT4C_uc010sum.1_Silent_p.P362P|MGAT4C_uc001tah.3_Silent_p.P338P	p.P338P	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2264	-			338			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Silent	SNP	ENST00000604798.1	37	c.1014T>A	CCDS9030.1																																																																																				PASS	0.408	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		20	34	20	34	---	---	---	---
FGD6	55785	broad.mit.edu	37	12	95488424	95488424	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:95488424T>A	ENST00000343958.4	-	15	3767	c.3544A>T	c.(3544-3546)Ata>Tta	p.I1182L	FGD6_ENST00000549499.1_Missense_Mutation_p.I1182L|FGD6_ENST00000546711.1_Missense_Mutation_p.I1182L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1182	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.I1182L(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TACTCTTCTATTGCCCTGGAA	0.398																																						uc001tdp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(3544-3546)ATA>TTA		FYVE, RhoGEF and PH domain containing 6							163.0	159.0	160.0					12																	95488424		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95488424T>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3544A>T	12.37:g.95488424T>A	ENSP00000344446:p.Ile1182Leu					FGD6_uc009zsx.2_Missense_Mutation_p.I315L|FGD6_uc001tdq.1_Missense_Mutation_p.I218L	p.I1182L	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			15	3768	-			1182			PH 1.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3544A>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.180977	0.57800	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521;ENST00000549499	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	6.04	6.04	0.98038	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.53938	D	0.000046	T	0.79149	0.4397	N	0.25957	0.775	0.58432	D	0.999996	P;D	0.71674	0.712;0.998	P;D	0.72338	0.493;0.977	T	0.80067	-0.1537	10	0.48119	T	0.1	-25.6088	16.5763	0.84648	0.0:0.0:0.0:1.0	.	1182;1182	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	L	1182;1182;178;1182	ENSP00000344446:I1182L;ENSP00000450342:I1182L;ENSP00000450240:I178L;ENSP00000449005:I1182L	ENSP00000344446:I1182L	I	-	1	0	FGD6	94012555	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.429000	0.80309	2.317000	0.78254	0.459000	0.35465	ATA		PASS	0.398	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		12	44	12	44	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102492903	102492903	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:102492903T>A	ENST00000552283.1	-	5	569	c.430A>T	c.(430-432)Agt>Tgt	p.S144C	NUP37_ENST00000251074.1_Missense_Mutation_p.S144C|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	144					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.S144C(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TGATCGTCACTCACACTTGCA	0.343																																						uc001tjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)AGT>TGT		nucleoporin 37kDa							110.0	99.0	102.0					12																	102492903		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102492903T>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.430A>T	12.37:g.102492903T>A	ENSP00000448054:p.Ser144Cys					NUP37_uc009zub.1_Missense_Mutation_p.S144C	p.S144C	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			4	495	-			144			WD 2.		Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.430A>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163829	0.78226	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T;T	0.73681	-0.77;-0.77;-0.77	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.039409	0.85682	D	0.000000	D	0.86531	0.5955	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.977;0.983	D	0.87835	0.2647	10	0.56958	D	0.05	-19.1371	14.5196	0.67842	0.0:0.0:0.0:1.0	.	144;144	B4DKV8;Q8NFH4	.;NUP37_HUMAN	C	144	ENSP00000448054:S144C;ENSP00000251074:S144C;ENSP00000448086:S144C	ENSP00000251074:S144C	S	-	1	0	NUP37	101017033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.602000	0.61098	2.250000	0.74265	0.482000	0.46254	AGT		PASS	0.343	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		18	20	18	20	---	---	---	---
KIAA1033	23325	broad.mit.edu	37	12	105551091	105551091	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:105551091A>G	ENST00000332180.5	+	28	2990	c.2903A>G	c.(2902-2904)aAa>aGa	p.K968R		NM_015275.1	NP_056090.1			KIAA1033									p.K968R(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAAACATTAAAAGCAGCAAGG	0.303																																						uc001tld.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(2902-2904)AAA>AGA		hypothetical protein LOC23325							59.0	53.0	55.0					12																	105551091		1788	4058	5846	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105551091A>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2903A>G	12.37:g.105551091A>G	ENSP00000328062:p.Lys968Arg					KIAA1033_uc010swr.1_Missense_Mutation_p.K969R|KIAA1033_uc010sws.1_Missense_Mutation_p.K780R	p.K968R	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			28	2990	+			968						Missense_Mutation	SNP	ENST00000332180.5	37	c.2903A>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525717	0.27299	.	.	ENSG00000136051	ENST00000332180;ENST00000552203;ENST00000551224	T;T	0.77229	-1.08;-1.08	5.26	1.41	0.22369	.	0.238237	0.49916	N	0.000136	T	0.55033	0.1895	N	0.17082	0.46	0.40686	D	0.982352	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30031	-0.9992	10	0.16896	T	0.51	.	5.8035	0.18428	0.7061:0.1411:0.1529:0.0	.	969;968	B7ZKT9;Q2M389	.;WASH7_HUMAN	R	968;46;46	ENSP00000328062:K968R;ENSP00000447015:K46R	ENSP00000328062:K968R	K	+	2	0	KIAA1033	104075221	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	2.244000	0.43124	0.333000	0.23563	0.383000	0.25322	AAA		PASS	0.303	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		26	31	26	31	---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109201450	109201450	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:109201450C>A	ENST00000326495.5	-	8	783	c.690G>T	c.(688-690)ctG>ctT	p.L230L	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Silent_p.L230L|SSH1_ENST00000326470.5_Silent_p.L241L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	230				L -> P (in Ref. 1; BAB84116). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L230L(1)|p.L241L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGTAGACTCCAGGTCCTGCA	0.617																																						uc001tnm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(688-690)CTG>CTT		slingshot 1 isoform 1							98.0	100.0	99.0					12																	109201450		2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109201450C>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.690G>T	12.37:g.109201450C>A						SSH1_uc001tnl.2_5'Flank|SSH1_uc010sxg.1_Silent_p.L241L|SSH1_uc001tnn.3_Silent_p.L230L|SSH1_uc001tno.1_Silent_p.L134L	p.L230L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			8	777	-			230	L -> P (in Ref. 1; BAB84116).				Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.690G>T	CCDS9121.1																																																																																				PASS	0.617	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	49	6	49	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112688130	112688130	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:112688130C>A	ENST00000430131.2	-	24	3647	c.2502G>T	c.(2500-2502)ccG>ccT	p.P834P	HECTD4_ENST00000377560.5_Silent_p.P1084P|HECTD4_ENST00000550722.1_Silent_p.P1110P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	834					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P834P(1)|p.P1084P(1)									GAGAGGGGCTCGGAGTAAGGG	0.542																																						uc009zwc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(2500-2502)CCG>CCT		chromosome 12 open reading frame 51							106.0	98.0	101.0					12																	112688130		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112688130C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2502G>T	12.37:g.112688130C>A						C12orf51_uc010syk.1_Silent_p.P656P|C12orf51_uc001tts.2_Silent_p.P647P|C12orf51_uc001ttt.3_Silent_p.P645P	p.P834P	NM_001109662	NP_001103132					18	2520	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.2502G>T																																																																																					PASS	0.542	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	55	4	55	---	---	---	---
SDS	10993	broad.mit.edu	37	12	113837484	113837484	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:113837484C>A	ENST00000257549.4	-	2	152	c.30G>T	c.(28-30)aaG>aaT	p.K10N		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	10					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.K10N(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	GGATGGGGGTCTTCACGTGCA	0.602																																						uc001tvg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(28-30)AAG>AAT		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						42.0	33.0	36.0					12																	113837484		2203	4299	6502	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113837484C>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.30G>T	12.37:g.113837484C>A	ENSP00000257549:p.Lys10Asn					SDS_uc001tvh.1_Missense_Mutation_p.K10N	p.K10N	NM_006843	NP_006834	P20132	SDHL_HUMAN			2	152	-			10					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.30G>T	CCDS9169.1	.	.	.	.	.	.	.	.	.	.	C	7.755	0.704176	0.15172	.	.	ENSG00000135094;ENSG00000135094;ENSG00000135094;ENSG00000257606	ENST00000257549;ENST00000446302;ENST00000552280;ENST00000547342	D;D;D	0.96619	-4.07;-4.07;-4.07	4.7	1.91	0.25777	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.516189	0.20669	N	0.087861	D	0.90769	0.7102	L	0.28115	0.83	0.21416	N	0.999693	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.82667	-0.0344	10	0.52906	T	0.07	-4.0694	5.8508	0.18691	0.0:0.5396:0.244:0.2164	.	10;10	Q8WW81;P20132	.;SDHL_HUMAN	N	10;10;10;104	ENSP00000257549:K10N;ENSP00000449833:K10N;ENSP00000449061:K104N	ENSP00000449061:K104N	K	-	3	2	SDS;RP11-303O9.2	112321867	0.527000	0.26306	0.006000	0.13384	0.245000	0.25701	0.704000	0.25661	0.235000	0.21160	0.561000	0.74099	AAG		PASS	0.602	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		6	7	6	7	---	---	---	---
P2RX7	5027	broad.mit.edu	37	12	121592748	121592748	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:121592748C>A	ENST00000546057.1	+	2	429	c.286C>A	c.(286-288)Cct>Act	p.P96T	P2RX7_ENST00000377162.2_Missense_Mutation_p.P96T|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	96					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)	p.P96T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTACACCTTCCCTTTGCAGGT	0.567																																						uc001tzm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)|breast(1)|skin(1)	5						c.(286-288)CCT>ACT		purinergic receptor P2X7							220.0	151.0	175.0					12																	121592748		2203	4300	6503	SO:0001583	missense	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121592748C>A	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.286C>A	12.37:g.121592748C>A	ENSP00000442349:p.Pro96Thr					P2RX7_uc001tzn.2_5'UTR|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_5'UTR|P2RX7_uc001tzq.2_5'UTR	p.P96T	NM_002562	NP_002553	Q99572	P2RX7_HUMAN			2	382	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		96					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	c.286C>A	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542136	0.65198	.	.	ENSG00000089041	ENST00000546057;ENST00000377162	T;T	0.17213	2.29;2.29	5.49	4.59	0.56863	.	0.000000	0.64402	D	0.000017	T	0.50274	0.1606	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.60616	-0.7228	10	0.87932	D	0	.	9.2246	0.37398	0.0:0.9037:0.0:0.0963	.	96	Q99572	P2RX7_HUMAN	T	96	ENSP00000442349:P96T;ENSP00000366367:P96T	ENSP00000261826:P96T	P	+	1	0	P2RX7	120077131	0.930000	0.31532	0.997000	0.53966	0.774000	0.43823	1.682000	0.37628	2.578000	0.87016	0.591000	0.81541	CCT		PASS	0.567	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		5	64	5	64	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124317842	124317842	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:124317842A>G	ENST00000409039.3	+	26	4398	c.4373A>G	c.(4372-4374)cAa>cGa	p.Q1458R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1458	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q50R(1)|p.Q1458R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCTTTTCTGCAAACTGTTCAC	0.423																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4372-4374)CAA>CGA		dynein, axonemal, heavy chain 10							64.0	61.0	62.0					12																	124317842		1872	4106	5978	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124317842A>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4373A>G	12.37:g.124317842A>G	ENSP00000386770:p.Gln1458Arg						p.Q1458R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	26	4398	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1458			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4373A>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	12.05	1.823097	0.32237	.	.	ENSG00000197653	ENST00000409039	T	0.61627	0.09	5.83	3.55	0.40652	Dynein heavy chain, domain-2 (1);	0.598203	0.14952	U	0.288830	T	0.40423	0.1116	N	0.17631	0.505	0.23813	N	0.996776	B	0.12630	0.006	B	0.19666	0.026	T	0.27123	-1.0083	10	0.40728	T	0.16	.	7.9094	0.29782	0.6894:0.2248:0.0858:0.0	.	1458	Q8IVF4	DYH10_HUMAN	R	1458	ENSP00000386770:Q1458R	ENSP00000386770:Q1458R	Q	+	2	0	DNAH10	122883795	0.013000	0.17824	0.920000	0.36463	0.994000	0.84299	1.264000	0.33015	1.040000	0.40099	0.533000	0.62120	CAA		PASS	0.423	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			17	18	17	18	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558710	129558710	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:129558710G>T	ENST00000422113.2	-	9	3336	c.3010C>A	c.(3010-3012)Ctc>Atc	p.L1004I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.L542I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1004					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.L1004I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTTGTGCTGAGGAGATATTTA	0.463																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(3010-3012)CTC>ATC		transmembrane protein 132D precursor							107.0	101.0	103.0					12																	129558710		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558710G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3010C>A	12.37:g.129558710G>T	ENSP00000408581:p.Leu1004Ile					TMEM132D_uc001uia.2_Missense_Mutation_p.L542I	p.L1004I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3338	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1004			Cytoplasmic (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3010C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702517	0.48307	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.11169	2.8;3.63	4.14	3.25	0.37280	.	0.205095	0.33496	N	0.004849	T	0.33498	0.0865	M	0.84326	2.69	0.47659	D	0.999482	D;D	0.71674	0.998;0.983	D;P	0.83275	0.996;0.894	T	0.09997	-1.0649	9	.	.	.	-24.6549	11.9874	0.53155	0.0866:0.0:0.9134:0.0	.	1004;542	Q14C87;Q14C87-2	T132D_HUMAN;.	I	542;1004	ENSP00000374092:L542I;ENSP00000408581:L1004I	.	L	-	1	0	TMEM132D	128124663	1.000000	0.71417	0.176000	0.23000	0.819000	0.46315	5.236000	0.65354	0.848000	0.35191	0.411000	0.27672	CTC		PASS	0.463	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	68	5	68	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23906110	23906110	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:23906110G>A	ENST00000382292.3	-	9	12178	c.11905C>T	c.(11905-11907)Ctt>Ttt	p.L3969F	SACS_ENST00000382298.3_Missense_Mutation_p.L3969F|SACS_ENST00000402364.1_Missense_Mutation_p.L3219F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3969					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.L3969F(1)|p.L3822F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGAGGTCTAAGTTTTTGAGGA	0.393																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11905-11907)CTT>TTT		sacsin							118.0	117.0	117.0					13																	23906110		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906110G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11905C>T	13.37:g.23906110G>A	ENSP00000371729:p.Leu3969Phe					SACS_uc001uoo.2_Missense_Mutation_p.L3822F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.L3969F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12494	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3969					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11905C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362534	0.41902	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90620	-2.56;-2.7;-2.56	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	L	0.32530	0.975	0.45118	D	0.998136	D	0.76494	0.999	D	0.85130	0.997	D	0.91936	0.5559	10	0.87932	D	0	.	11.1518	0.48464	0.1424:0.0:0.8576:0.0	.	3969	Q9NZJ4	SACS_HUMAN	F	3969;3219;3969	ENSP00000371729:L3969F;ENSP00000385844:L3219F;ENSP00000371735:L3969F	ENSP00000371729:L3969F	L	-	1	0	SACS	22804110	1.000000	0.71417	0.772000	0.31596	0.283000	0.27025	2.973000	0.49264	2.646000	0.89796	0.655000	0.94253	CTT		PASS	0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		10	76	10	76	---	---	---	---
MIPEP	4285	broad.mit.edu	37	13	24380178	24380178	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:24380178G>T	ENST00000382172.3	-	16	1857	c.1759C>A	c.(1759-1761)Cat>Aat	p.H587N		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	587					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.H587N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TGCTTCCCATGGTAGATTTGA	0.413																																						uc001uox.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1759-1761)CAT>AAT		mitochondrial intermediate peptidase precursor							170.0	158.0	162.0					13																	24380178		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24380178G>T		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1759C>A	13.37:g.24380178G>T	ENSP00000371607:p.His587Asn						p.H587N	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	16	1859	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	587					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.1759C>A	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645190	0.87859	.	.	ENSG00000027001	ENST00000382172	T	0.14766	2.48	5.72	5.72	0.89469	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65405	-0.6176	10	0.87932	D	0	.	18.0165	0.89242	0.0:0.0:1.0:0.0	.	587	Q99797	MIPEP_HUMAN	N	587	ENSP00000371607:H587N	ENSP00000371607:H587N	H	-	1	0	MIPEP	23278178	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.153000	0.89640	2.865000	0.98341	0.655000	0.94253	CAT		PASS	0.413	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			6	83	6	83	---	---	---	---
PARP4	143	broad.mit.edu	37	13	25026687	25026687	+	Silent	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:25026687G>C	ENST00000381989.3	-	24	2976	c.2871C>G	c.(2869-2871)ctC>ctG	p.L957L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	957	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L957L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TAAGATATCGGAGTGTTTTCC	0.493																																						uc001upl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2869-2871)CTC>CTG		poly (ADP-ribose) polymerase family, member 4							153.0	148.0	150.0					13																	25026687		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25026687G>C	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2871C>G	13.37:g.25026687G>C						PARP4_uc010tdc.1_Silent_p.L957L	p.L957L	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	24	2977	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	957			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.2871C>G	CCDS9307.1																																																																																				PASS	0.493	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		39	42	39	42	---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28794441	28794441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:28794441C>A	ENST00000380958.3	+	6	1078	c.926C>A	c.(925-927)tCa>tAa	p.S309*	PAN3_ENST00000399613.1_Nonsense_Mutation_p.S109*	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.S109*(1)|p.S309*(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTGTCCCAGTCAAATATGTCT	0.428																																						uc001urz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(487-489)TCA>TAA		PABP1-dependent poly A-specific ribonuclease							204.0	197.0	199.0					13																	28794441		2203	4300	6503	SO:0001587	stop_gained	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794441C>A	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.926C>A	13.37:g.28794441C>A	ENSP00000370345:p.Ser309*					PAN3_uc010tdo.1_Nonsense_Mutation_p.S309*|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Nonsense_Mutation_p.S109*	p.S163*	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	496	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	309			Interaction with polyadenylate-binding protein.			Nonsense_Mutation	SNP	ENST00000380958.3	37	c.488C>A	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	37	5.995054	0.97184	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	.	.	.	5.88	5.88	0.94601	.	0.119337	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1051	20.2371	0.98361	0.0:1.0:0.0:0.0	.	.	.	.	X	309;109	.	ENSP00000370345:S309X	S	+	2	0	PAN3	27692441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.642000	0.67888	2.788000	0.95919	0.555000	0.69702	TCA		PASS	0.428	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		34	203	34	203	---	---	---	---
KL	9365	broad.mit.edu	37	13	33638087	33638087	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:33638087T>A	ENST00000380099.3	+	5	2811	c.2803T>A	c.(2803-2805)Ttt>Att	p.F935I	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	935	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.F935I(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGCAGATCAGTTTGAGCCCAA	0.448																																						uc001uus.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2803-2805)TTT>ATT		klotho precursor							145.0	142.0	143.0					13																	33638087		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638087T>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2803T>A	13.37:g.33638087T>A	ENSP00000369442:p.Phe935Ile						p.F935I	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2811	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	935			Glycosyl hydrolase-1 2.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2803T>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678519	0.47886	.	.	ENSG00000133116	ENST00000380099	T	0.31510	1.49	5.33	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.312848	0.34435	N	0.003972	T	0.45796	0.1360	M	0.88979	2.995	0.33430	D	0.581049	P	0.37276	0.589	B	0.39771	0.309	T	0.65730	-0.6097	10	0.46703	T	0.11	-20.4641	15.3023	0.73962	0.0:0.0:0.0:1.0	.	935	Q9UEF7	KLOT_HUMAN	I	935	ENSP00000369442:F935I	ENSP00000369442:F935I	F	+	1	0	KL	32536087	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.438000	0.44837	2.011000	0.59026	0.533000	0.62120	TTT		PASS	0.448	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			40	32	40	32	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35517158	35517158	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:35517158C>T	ENST00000400445.3	+	1	735	c.201C>T	c.(199-201)atC>atT	p.I67I	NBEA_ENST00000379939.2_Silent_p.I67I|NBEA_ENST00000310336.4_Silent_p.I67I|NBEA_ENST00000540320.1_Silent_p.I67I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	67					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.I67I(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CGGTGCCGATCCGCAACATCC	0.627																																						uc001uvb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(199-201)ATC>ATT		neurobeachin							86.0	95.0	92.0					13																	35517158		2047	4194	6241	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35517158C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.201C>T	13.37:g.35517158C>T							p.I67I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	2	407	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	67					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.201C>T	CCDS45026.1																																																																																				PASS	0.627	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		20	44	20	44	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39271908	39271908	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:39271908T>C	ENST00000280481.7	+	2	5463	c.5247T>C	c.(5245-5247)ttT>ttC	p.F1749F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1749					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1749F(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTCTATTTTGCAGTTGAAG	0.393																																						uc001uwv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(5245-5247)TTT>TTC		FRAS1-related extracellular matrix protein 2							177.0	156.0	163.0					13																	39271908		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39271908T>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5247T>C	13.37:g.39271908T>C							p.F1749F	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	2	5556	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1749			Extracellular (Potential).|CSPG 12.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.5247T>C	CCDS31960.1																																																																																				PASS	0.393	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	33	4	33	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42385440	42385440	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:42385440G>C	ENST00000379310.3	-	17	2052	c.1984C>G	c.(1984-1986)Ctg>Gtg	p.L662V	VWA8_ENST00000281496.6_Missense_Mutation_p.L662V	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	662						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L662V(1)									ATTCGCAACAGTTGTCTGGTA	0.393																																						uc001uyj.2																			1	Substitution - Missense(1)	p.L662L(1)	lung(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(1984-1986)CTG>GTG		hypothetical protein LOC23078 isoform a							128.0	130.0	129.0					13																	42385440		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42385440G>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1984C>G	13.37:g.42385440G>C	ENSP00000368612:p.Leu662Val					KIAA0564_uc001uyk.2_Missense_Mutation_p.L662V	p.L662V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	17	2054	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	662					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1984C>G	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043413	0.55003	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.53206	0.63;0.63	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.69726	0.3143	M	0.87900	2.915	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.73678	-0.3907	10	0.52906	T	0.07	.	11.9347	0.52866	0.0808:0.0:0.9192:0.0	.	662	A3KMH1	K0564_HUMAN	V	566;662;662	ENSP00000368612:L662V;ENSP00000281496:L662V	ENSP00000251030:L566V	L	-	1	2	KIAA0564	41283440	0.997000	0.39634	0.999000	0.59377	0.457000	0.32468	2.572000	0.45999	2.457000	0.83068	0.585000	0.79938	CTG		PASS	0.393	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		4	73	4	73	---	---	---	---
COG3	83548	broad.mit.edu	37	13	46085956	46085956	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:46085956A>T	ENST00000349995.5	+	16	1888	c.1776A>T	c.(1774-1776)ttA>ttT	p.L592F	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	592					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.L592F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTCAGTCCTTACTTGGAGCGT	0.398																																					Ovarian(150;1048 1859 18083 21577 42700)	uc001vak.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1774-1776)TTA>TTT		component of golgi transport complex 3							128.0	118.0	121.0					13																	46085956		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46085956A>T	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1776A>T	13.37:g.46085956A>T	ENSP00000258654:p.Leu592Phe					COG3_uc001vaj.1_Missense_Mutation_p.L592F|COG3_uc010tfv.1_Missense_Mutation_p.L429F|COG3_uc010aci.2_Missense_Mutation_p.L368F	p.L592F	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	16	1877	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	592					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1776A>T	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638034	0.67130	.	.	ENSG00000136152	ENST00000349995	T	0.44083	0.93	5.41	-1.01	0.10169	.	0.078500	0.53938	D	0.000059	T	0.59998	0.2235	M	0.84511	2.7	0.80722	D	1	P;P	0.52577	0.875;0.954	P;P	0.59825	0.864;0.784	T	0.64879	-0.6303	10	0.54805	T	0.06	-9.4433	12.9529	0.58411	0.3201:0.0:0.6799:0.0	.	429;592	B4E2F3;Q96JB2	.;COG3_HUMAN	F	592	ENSP00000258654:L592F	ENSP00000258654:L592F	L	+	3	2	COG3	44983957	1.000000	0.71417	0.359000	0.25824	0.951000	0.60555	1.088000	0.30877	-0.291000	0.09012	0.482000	0.46254	TTA		PASS	0.398	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			17	16	17	16	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67800610	67800610	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:67800610G>T	ENST00000377865.2	-	1	2097	c.1963C>A	c.(1963-1965)Cgt>Agt	p.R655S	PCDH9_ENST00000377861.3_Missense_Mutation_p.R655S|PCDH9_ENST00000456367.1_Missense_Mutation_p.R655S|PCDH9_ENST00000328454.5_Missense_Mutation_p.R655S|PCDH9_ENST00000544246.1_Missense_Mutation_p.R655S			Q9HC56	PCDH9_HUMAN	protocadherin 9	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R655S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTAGAGGAACGAGGTGGTTGT	0.433																																						uc001vik.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1963-1965)CGT>AGT		protocadherin 9 isoform 1 precursor							115.0	100.0	105.0					13																	67800610		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800610G>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1963C>A	13.37:g.67800610G>T	ENSP00000367096:p.Arg655Ser					PCDH9_uc001vil.2_Missense_Mutation_p.R655S|PCDH9_uc010thl.1_Missense_Mutation_p.R655S|PCDH9_uc001vin.3_Missense_Mutation_p.R655S	p.R655S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2655	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	655			Extracellular (Potential).|Cadherin 6.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1963C>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898316	0.52227	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.046304	0.85682	D	0.000000	T	0.52773	0.1755	M	0.71036	2.16	0.58432	D	0.999999	B;B;B;B	0.25719	0.036;0.029;0.064;0.132	B;B;B;B	0.26969	0.048;0.047;0.045;0.075	T	0.53556	-0.8422	10	0.59425	D	0.04	.	19.3757	0.94508	0.0:0.0:1.0:0.0	.	655;655;655;655	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	655	ENSP00000442186:R655S;ENSP00000367096:R655S;ENSP00000401699:R655S;ENSP00000332060:R655S;ENSP00000367092:R655S	ENSP00000332060:R655S	R	-	1	0	PCDH9	66698611	1.000000	0.71417	0.633000	0.29310	0.995000	0.86356	5.184000	0.65070	2.814000	0.96858	0.655000	0.94253	CGT		PASS	0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		4	60	4	60	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76382282	76382282	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:76382282G>T	ENST00000321797.8	+	8	1885	c.1164G>T	c.(1162-1164)gaG>gaT	p.E388D	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.E388D|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.E673D|LMO7_ENST00000377534.3_Missense_Mutation_p.E673D|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	673					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E388D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGATGGGAGGCCATCCGGG	0.532																																						uc001vjv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(1162-1164)GAG>GAT		LIM domain only 7 isoform 2							69.0	66.0	67.0					13																	76382282		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76382282G>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1164G>T	13.37:g.76382282G>T	ENSP00000317802:p.Glu388Asp					LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.E294D	p.E388D	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	7	1924	+		Breast(118;0.0992)	673					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1164G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.60|18.60	3.658573|3.658573	0.67586|0.67586	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261|ENST00000447038	T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55|.	5.97|5.97	2.2|2.2	0.27929|0.27929	.|.	0.164161|.	0.52532|.	D|.	0.000067|.	T|T	0.60958|0.60958	0.2309|0.2309	M|M	0.67953|0.67953	2.075|2.075	0.40390|0.40390	D|D	0.979536|0.979536	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.65874|.	0.939;0.939|.	T|T	0.56872|0.56872	-0.7907|-0.7907	10|5	0.62326|.	D|.	0.03|.	-23.8152|-23.8152	7.3801|7.3801	0.26851|0.26851	0.5433:0.0:0.4567:0.0|0.5433:0.0:0.4567:0.0	.|.	673;388|.	Q8WWI1;E9PLH4|.	LMO7_HUMAN;.|.	D|C	673;673;388;388|297	ENSP00000349571:E673D;ENSP00000366757:E673D;ENSP00000317802:E388D;ENSP00000433352:E388D|.	ENSP00000317802:E388D|.	E|G	+|+	3|1	2|0	LMO7|LMO7	75280283|75280283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	1.779000|1.779000	0.38624|0.38624	0.372000|0.372000	0.24591|0.24591	-0.345000|-0.345000	0.07892|0.07892	GAG|GGC		PASS	0.532	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		16	17	16	17	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861116	108861116	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:108861116T>A	ENST00000356922.4	-	2	2773	c.2501A>T	c.(2500-2502)gAg>gTg	p.E834V	LIG4_ENST00000405925.1_Missense_Mutation_p.E834V|LIG4_ENST00000442234.1_Missense_Mutation_p.E834V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	834	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.E834V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCTTGTCCCCTCATTTTTGGT	0.428								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2500-2502)GAG>GTG	NHEJ	DNA ligase IV							98.0	94.0	95.0					13																	108861116		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861116T>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2501A>T	13.37:g.108861116T>A	ENSP00000349393:p.Glu834Val					LIG4_uc001vqo.2_Missense_Mutation_p.E834V|LIG4_uc010agg.1_Missense_Mutation_p.E767V|LIG4_uc010agf.2_Missense_Mutation_p.E834V|LIG4_uc001vqp.2_Missense_Mutation_p.E834V	p.E834V	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2774	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		834			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2501A>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	8.274	0.814055	0.16537	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.62788	0.0;0.0;0.0	5.75	3.37	0.38596	BRCT (3);	0.892903	0.10057	N	0.721437	T	0.42471	0.1204	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.17979	0.02	T	0.27297	-1.0078	10	0.30854	T	0.27	.	6.2355	0.20760	0.0:0.1457:0.1363:0.718	.	834	P49917	DNLI4_HUMAN	V	834	ENSP00000385955:E834V;ENSP00000402030:E834V;ENSP00000349393:E834V	ENSP00000349393:E834V	E	-	2	0	LIG4	107659117	0.004000	0.15560	0.043000	0.18650	0.578000	0.36192	1.014000	0.29950	1.024000	0.39682	0.462000	0.41574	GAG		PASS	0.428	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		21	33	21	33	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20215703	20215704	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr14:20215703_20215704CC>AG	ENST00000331723.1	+	1	117_118	c.117_118CC>AG	c.(115-120)gtCCtg>gtAGtg	p.L40V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L40V(2)|p.V39V(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTATTGTCCTGGGAAACCT	0.386																																						uc010tkt.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)	|p.L40L(3)	lung(3)	breast(3)	3						c.(115-117)GTC>GTA|c.(118-120)CTG>GTG		olfactory receptor, family 4, subfamily Q,																																				SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215703C>A|g.chr14:20215704C>G	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		Exception_encountered	14.37:g.20215703_20215704delinsAG	ENSP00000330049:p.Leu40Val						p.V39V|p.L40V	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	117|118	+	all_cancers(95;0.00108)		39|40			Helical; Name=1; (Potential).		Q6IEX4	Silent|Missense_Mutation	SNP	ENST00000331723.1	37	c.117C>A|c.118C>G	CCDS32020.1																																																																																				PASS	0.386	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			41|44	43|41	41	41	---	---	---	---
AP4S1	11154	broad.mit.edu	37	14	31549788	31549788	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr14:31549788G>T	ENST00000542754.2	+	5	697	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000216366.4_Missense_Mutation_p.D102Y|AP4S1_ENST00000334725.4_Missense_Mutation_p.D102Y|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000554345.1_Intron	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	102						coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.D102Y(2)		lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		GAGTGAATTAGATGTATCCTT	0.443																																					Pancreas(128;620 2365 4508 44145)	uc001wqy.3																			2	Substitution - Missense(2)		lung(2)		0						c.(304-306)GAT>TAT		adaptor-related protein complex 4, sigma 1							148.0	122.0	131.0					14																	31549788		2203	4300	6503	SO:0001583	missense	11154					coated pit|Golgi apparatus	protein transporter activity	g.chr14:31549788G>T	AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.304G>T	14.37:g.31549788G>T	ENSP00000438170:p.Asp102Tyr					AP4S1_uc001wqw.3_Missense_Mutation_p.D102Y|AP4S1_uc001wqx.3_Missense_Mutation_p.D102Y|AP4S1_uc010amh.2_Intron|AP4S1_uc001wqz.3_Intron	p.D102Y	NM_001128126	NP_001121598	Q9Y587	AP4S1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)	5	686	+	Hepatocellular(127;0.0877)|Breast(36;0.176)		102					G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Missense_Mutation	SNP	ENST00000542754.2	37	c.304G>T	CCDS45093.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201255	0.79015	.	.	ENSG00000100478	ENST00000557346;ENST00000542754;ENST00000216366;ENST00000334725	.	.	.	5.61	5.61	0.85477	Longin-like (1);AP complex, mu/sigma subunit (1);	0.221929	0.53938	D	0.000058	D	0.87313	0.6146	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.81914	0.922;0.995;0.988	D	0.90202	0.4258	9	0.87932	D	0	.	18.7722	0.91896	0.0:0.0:1.0:0.0	.	102;102;102	Q9Y587;Q86U36;Q9Y587-2	AP4S1_HUMAN;.;.	Y	102	.	ENSP00000216366:D102Y	D	+	1	0	AP4S1	30619539	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.503000	0.73699	2.793000	0.96121	0.655000	0.94253	GAT		PASS	0.443	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409723.1			4	22	4	22	---	---	---	---
SLC10A1	6554	broad.mit.edu	37	14	70245986	70245986	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr14:70245986G>T	ENST00000216540.4	-	3	792	c.659C>A	c.(658-660)cCa>cAa	p.P220Q		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	220					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.P220Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	AATCAAGAGTGGTGTCATGGC	0.488																																						uc001xlr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)CCA>CAA		solute carrier family 10, member 1							151.0	99.0	117.0					14																	70245986		2203	4300	6503	SO:0001583	missense	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70245986G>T	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.659C>A	14.37:g.70245986G>T	ENSP00000216540:p.Pro220Gln						p.P220Q	NM_003049	NP_003040	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	3	793	-			220			Helical; (Potential).		B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	c.659C>A	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939900	0.52972	.	.	ENSG00000100652	ENST00000216540	T	0.09350	2.99	4.71	3.81	0.43845	.	0.320993	0.33572	N	0.004772	T	0.31199	0.0789	M	0.83603	2.65	0.24566	N	0.993941	D	0.71674	0.998	D	0.65443	0.935	T	0.07520	-1.0768	10	0.29301	T	0.29	-7.7092	13.7701	0.63019	0.0782:0.0:0.9218:0.0	.	220	Q14973	NTCP_HUMAN	Q	220	ENSP00000216540:P220Q	ENSP00000216540:P220Q	P	-	2	0	SLC10A1	69315739	1.000000	0.71417	0.992000	0.48379	0.696000	0.40369	5.300000	0.65721	2.610000	0.88304	0.655000	0.94253	CCA		PASS	0.488	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			5	34	5	34	---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77686394	77686394	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr14:77686394C>A	ENST00000298351.4	+	5	420	c.276C>A	c.(274-276)ccC>ccA	p.P92P	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	92					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.P92P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AGACATCTCCCTCGGAGACTT	0.607																																						uc001xtf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)CCC>CCA		transmembrane protein 63C							48.0	50.0	49.0					14																	77686394		2018	4142	6160	SO:0001819	synonymous_variant	57156					integral to membrane		g.chr14:77686394C>A		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.276C>A	14.37:g.77686394C>A						TMEM63C_uc010asq.1_Silent_p.P92P	p.P92P	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	5	488	+			92					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	c.276C>A	CCDS45141.1																																																																																				PASS	0.607	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			3	5	3	5	---	---	---	---
ADCK1	57143	broad.mit.edu	37	14	78353520	78353520	+	Silent	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr14:78353520G>C	ENST00000238561.5	+	5	609	c.510G>C	c.(508-510)ggG>ggC	p.G170G	ADCK1_ENST00000341211.5_Silent_p.G102G	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	177	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G102G(1)|p.G170G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGCATGATGGGCGGACGGTGG	0.607																																						uc001xui.2																			2	Substitution - coding silent(2)		lung(2)	stomach(2)|ovary(1)	3						c.(508-510)GGG>GGC		aarF domain containing kinase 1 isoform a							91.0	87.0	88.0					14																	78353520		2203	4300	6503	SO:0001819	synonymous_variant	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78353520G>C	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.510G>C	14.37:g.78353520G>C						ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.2_Silent_p.G102G|ADCK1_uc001xuk.1_Silent_p.G44G	p.G170G	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	5	609	+			177			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	c.510G>C	CCDS9869.1																																																																																				PASS	0.607	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		17	5	17	5	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	80130287	80130287	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr14:80130287C>A	ENST00000557594.1	+	3	1549	c.596C>A	c.(595-597)cCt>cAt	p.P199H	NRXN3_ENST00000335750.5_Missense_Mutation_p.P831H|NRXN3_ENST00000554719.1_Missense_Mutation_p.P831H|NRXN3_ENST00000428277.2_Missense_Mutation_p.P199H|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Missense_Mutation_p.P199H	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	199	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.P199H(1)|p.P831H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAACATTATCCTACAGGTACA	0.478																																						uc001xun.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2491-2493)CCT>CAT		neurexin 3 isoform 1 precursor							124.0	112.0	116.0					14																	80130287		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80130287C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.596C>A	14.37:g.80130287C>A	ENSP00000451672:p.Pro199His					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.P199H|NRXN3_uc010asw.2_Missense_Mutation_p.P199H|NRXN3_uc001xur.3_Missense_Mutation_p.P199H	p.P831H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	14	2983	+		Renal(4;0.00876)	1204			Extracellular (Potential).|Laminin G-like 6.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.2492C>A		.	.	.	.	.	.	.	.	.	.	C	27.9	4.874194	0.91664	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78924	-1.22;-1.22;-1.16;-1.16;-1.16	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90321	0.6972	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.991;0.983;0.993	D	0.91088	0.4904	9	.	.	.	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	199;199;199;831	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	H	1204;1193;831;831;199;199;199	ENSP00000451648:P831H;ENSP00000338349:P831H;ENSP00000451672:P199H;ENSP00000281127:P199H;ENSP00000394426:P199H	.	P	+	2	0	NRXN3	79200040	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.759000	0.85235	2.674000	0.91012	0.462000	0.41574	CCT		PASS	0.478	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		12	3	12	3	---	---	---	---
CINP	51550	broad.mit.edu	37	14	102816311	102816311	+	Silent	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr14:102816311A>G	ENST00000216756.6	-	4	421	c.381T>C	c.(379-381)taT>taC	p.Y127Y	CINP_ENST00000536961.2_Silent_p.Y142Y|CINP_ENST00000541568.2_Intron|CINP_ENST00000560326.1_5'Flank	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	127					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)		p.Y127Y(1)		large_intestine(2)|lung(2)	4						TCTCCTCCCCATAATGGTAGT	0.408																																						uc001ylv.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(379-381)TAT>TAC		cyclin-dependent kinase 2-interacting protein							130.0	126.0	128.0					14																	102816311		2203	4300	6503	SO:0001819	synonymous_variant	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102816311A>G	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.381T>C	14.37:g.102816311A>G						CINP_uc001ylu.1_RNA	p.Y127Y	NM_032630	NP_116019	Q9BW66	CINP_HUMAN			4	446	-			127					F5H7P3|F5H8A7|Q9NPF9	Silent	SNP	ENST00000216756.6	37	c.381T>C	CCDS9972.1																																																																																				PASS	0.408	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		23	13	23	13	---	---	---	---
VPS39	23339	broad.mit.edu	37	15	42459085	42459085	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:42459085C>A	ENST00000348544.4	-	15	1436	c.1437G>T	c.(1435-1437)ttG>ttT	p.L479F	VPS39_ENST00000318006.5_Missense_Mutation_p.L468F			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	479					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.L468F(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCAGGCGTAGCAAGGGGGCCA	0.562																																						uc001zpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1435-1437)TTG>TTT		vacuolar protein sorting 39							87.0	87.0	87.0					15																	42459085		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42459085C>A	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1437G>T	15.37:g.42459085C>A	ENSP00000335193:p.Leu479Phe					VPS39_uc001zpc.2_Missense_Mutation_p.L468F|VPS39_uc001zpb.2_5'Flank	p.L479F	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	15	1588	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	479					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.1437G>T	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840880	0.71488	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.60040	0.22;0.25	5.74	3.85	0.44370	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.65459	-0.6163	10	0.29301	T	0.29	-10.6735	8.8563	0.35229	0.0:0.7383:0.1249:0.1368	.	479;468	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	F	468;479	ENSP00000326534:L468F;ENSP00000335193:L479F	ENSP00000326534:L468F	L	-	3	2	VPS39	40246377	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.612000	0.36889	1.579000	0.49836	0.563000	0.77884	TTG		PASS	0.562	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		10	28	10	28	---	---	---	---
SLC30A4	7782	broad.mit.edu	37	15	45814396	45814396	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:45814396C>A	ENST00000261867.4	-	2	471	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	53	Asp-rich (acidic).				regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)	p.D53Y(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TCGGAACCGTCATCGGCCACC	0.572																																						uc001zvj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GAC>TAC		solute carrier family 30 (zinc transporter),							70.0	76.0	74.0					15																	45814396		2198	4298	6496	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45814396C>A		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.157G>T	15.37:g.45814396C>A	ENSP00000261867:p.Asp53Tyr					C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron	p.D53Y	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	2	469	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	53			Cytoplasmic (Potential).|Asp-rich (acidic).		Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.157G>T	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.730864	0.69074	.	.	ENSG00000104154	ENST00000261867	T	0.67523	-0.27	5.01	5.01	0.66863	.	0.053759	0.85682	D	0.000000	T	0.69904	0.3163	N	0.24115	0.695	0.46586	D	0.999113	D	0.71674	0.998	D	0.64042	0.921	T	0.71774	-0.4491	10	0.44086	T	0.13	-13.3736	16.8993	0.86109	0.0:1.0:0.0:0.0	.	53	O14863	ZNT4_HUMAN	Y	53	ENSP00000261867:D53Y	ENSP00000261867:D53Y	D	-	1	0	SLC30A4	43601688	0.999000	0.42202	0.327000	0.25402	0.574000	0.36063	4.739000	0.62080	2.334000	0.79466	0.655000	0.94253	GAC		PASS	0.572	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			21	30	21	30	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48056121	48056121	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:48056121G>C	ENST00000316364.5	+	10	1261	c.822G>C	c.(820-822)tgG>tgC	p.W274C	SEMA6D_ENST00000358066.4_Missense_Mutation_p.W274C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.W274C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.W274C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.W274C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.W274C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.W274C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.W274C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.W274C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.W274C|SEMA6D_ENST00000389425.3_Missense_Mutation_p.W274C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.W274C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	274	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.W274C(3)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGAAACACTGGACTTCATTTC	0.468																																						uc010bek.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	skin(3)|breast(1)	4						c.(820-822)TGG>TGC		semaphorin 6D isoform 4 precursor							154.0	142.0	146.0					15																	48056121		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056121G>C	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.822G>C	15.37:g.48056121G>C	ENSP00000324857:p.Trp274Cys					SEMA6D_uc001zvw.2_Missense_Mutation_p.W274C|SEMA6D_uc001zvx.1_Missense_Mutation_p.W274C|SEMA6D_uc001zvy.2_Missense_Mutation_p.W274C|SEMA6D_uc001zvz.2_Missense_Mutation_p.W274C|SEMA6D_uc001zwa.2_Missense_Mutation_p.W274C|SEMA6D_uc001zwb.2_Missense_Mutation_p.W274C|SEMA6D_uc001zwc.2_Missense_Mutation_p.W274C	p.W274C	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1182	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	274			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.822G>C	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784908	0.90282	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	H	0.96970	3.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.85031	0.0917	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	274;274;274;274;274	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	C	274	ENSP00000442040:W274C;ENSP00000446152:W274C;ENSP00000324857:W274C;ENSP00000374084:W274C;ENSP00000374083:W274C;ENSP00000346786:W274C;ENSP00000350770:W274C;ENSP00000374079:W274C;ENSP00000348276:W274C;ENSP00000374076:W274C	ENSP00000324857:W274C	W	+	3	0	SEMA6D	45843413	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	TGG		PASS	0.468	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		32	48	32	48	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50190438	50190438	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:50190438A>G	ENST00000284509.6	-	22	2441	c.2300T>C	c.(2299-2301)cTa>cCa	p.L767P	ATP8B4_ENST00000559829.1_Missense_Mutation_p.L767P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	767						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L767P(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATCACTTTCTAGGGCATGAGC	0.383																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(2299-2301)CTA>CCA		ATPase class I type 8B member 4							85.0	78.0	80.0					15																	50190438		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50190438A>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2300T>C	15.37:g.50190438A>G	ENSP00000284509:p.Leu767Pro					ATP8B4_uc010ber.2_Missense_Mutation_p.L640P|ATP8B4_uc010ufd.1_Missense_Mutation_p.L577P|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.L65P	p.L767P	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	22	2442	-		all_lung(180;0.00183)	767			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2300T>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.737773	0.49045	.	.	ENSG00000104043	ENST00000284509	D	0.93076	-3.16	5.92	5.92	0.95590	HAD-like domain (1);	0.084039	0.48286	D	0.000182	D	0.97393	0.9147	H	0.96861	3.895	0.80722	D	1	D	0.56287	0.975	P	0.58130	0.833	D	0.98335	1.0535	10	0.72032	D	0.01	.	14.3151	0.66443	1.0:0.0:0.0:0.0	.	767	Q8TF62	AT8B4_HUMAN	P	767	ENSP00000284509:L767P	ENSP00000284509:L767P	L	-	2	0	ATP8B4	47977730	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	8.904000	0.92590	2.266000	0.75297	0.533000	0.62120	CTA		PASS	0.383	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		15	17	15	17	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305821	54305821	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:54305821G>A	ENST00000260323.11	+	1	721	c.721G>A	c.(721-723)Gat>Aat	p.D241N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D241N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D241N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	241					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.D241N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCAAACACATGATGTCATGGA	0.448																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(721-723)GAT>AAT		unc-13 homolog C							76.0	75.0	76.0					15																	54305821		1929	4121	6050	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305821G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.721G>A	15.37:g.54305821G>A	ENSP00000260323:p.Asp241Asn						p.D241N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	721	+			241					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.721G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230155	0.79688	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.87887	-2.31;-2.31;-2.31	4.97	4.97	0.65823	.	.	.	.	.	T	0.80696	0.4672	N	0.19112	0.55	0.48632	D	0.999687	B	0.17038	0.02	B	0.19391	0.025	T	0.76315	-0.3004	9	0.48119	T	0.1	.	17.243	0.87019	0.0:0.0:1.0:0.0	.	241	Q8NB66	UN13C_HUMAN	N	241	ENSP00000260323:D241N;ENSP00000438156:D241N;ENSP00000442569:D241N	ENSP00000260323:D241N	D	+	1	0	UNC13C	52093113	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	7.982000	0.88131	2.281000	0.76405	0.650000	0.86243	GAT		PASS	0.448	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		42	49	42	49	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305932	54305932	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:54305932T>A	ENST00000260323.11	+	1	832	c.832T>A	c.(832-834)Tcc>Acc	p.S278T	UNC13C_ENST00000545554.1_Missense_Mutation_p.S278T|UNC13C_ENST00000537900.1_Missense_Mutation_p.S278T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	278					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S278T(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CGATGAGATCTCCAGCAGTGT	0.438																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(832-834)TCC>ACC		unc-13 homolog C							110.0	107.0	108.0					15																	54305932		1982	4179	6161	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305932T>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.832T>A	15.37:g.54305932T>A	ENSP00000260323:p.Ser278Thr						p.S278T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	832	+			278					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.832T>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328147	0.81690	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.86030	-2.06;-2.06;-2.06	5.08	5.08	0.68730	.	.	.	.	.	D	0.87896	0.6293	L	0.34521	1.04	0.50313	D	0.999867	D	0.69078	0.997	D	0.73380	0.98	D	0.89366	0.3671	9	0.87932	D	0	.	14.0546	0.64759	0.0:0.0:0.0:1.0	.	278	Q8NB66	UN13C_HUMAN	T	278	ENSP00000260323:S278T;ENSP00000438156:S278T;ENSP00000442569:S278T	ENSP00000260323:S278T	S	+	1	0	UNC13C	52093224	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.974000	0.88039	1.900000	0.55004	0.533000	0.62120	TCC		PASS	0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		42	67	42	67	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54592473	54592473	+	Silent	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:54592473G>C	ENST00000260323.11	+	12	4170	c.4170G>C	c.(4168-4170)ggG>ggC	p.G1390G	UNC13C_ENST00000545554.1_Silent_p.G1390G|UNC13C_ENST00000537900.1_Silent_p.G1388G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1390					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G1390G(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGTCAAAGGGGATGAAGCCT	0.368																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4168-4170)GGG>GGC		unc-13 homolog C							113.0	106.0	108.0					15																	54592473		1835	4102	5937	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54592473G>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4170G>C	15.37:g.54592473G>C						UNC13C_uc002acl.2_Silent_p.G220G	p.G1390G	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	11	4170	+			1390					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.4170G>C	CCDS45264.1																																																																																				PASS	0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		9	5	9	5	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59225621	59225621	+	Silent	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:59225621G>C	ENST00000380516.2	-	1	231	c.144C>G	c.(142-144)ctC>ctG	p.L48L	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	48	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L48L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCGGGAGATGAGCACGGTCT	0.637																																						uc002afp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(142-144)CTC>CTG		modulator of estrogen induced transcription							45.0	40.0	41.0					15																	59225621		2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59225621G>C	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.144C>G	15.37:g.59225621G>C						SLTM_uc002afo.2_Silent_p.L48L|SLTM_uc002afq.2_5'UTR|SLTM_uc010bgd.2_5'UTR|SLTM_uc002afr.1_Silent_p.L48L	p.L48L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			1	232	-			48			SAP.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.144C>G	CCDS10168.2																																																																																				PASS	0.637	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		3	7	3	7	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65499327	65499327	+	Silent	SNP	G	G	T	rs368935809		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:65499327G>T	ENST00000261883.4	-	4	383	c.217C>A	c.(217-219)Cgg>Agg	p.R73R		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	73					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R73R(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCGTCCAGCCGCTCATAGTCG	0.612																																						uc002aon.2																			1	Substitution - coding silent(1)	p.R73Q(1)	lung(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(217-219)CGG>AGG		cartilage intermediate layer protein							53.0	43.0	46.0					15																	65499327		2201	4299	6500	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65499327G>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.217C>A	15.37:g.65499327G>T							p.R73R	NM_003613	NP_003604	O75339	CILP1_HUMAN			4	398	-			73					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.217C>A	CCDS10203.1																																																																																				PASS	0.612	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		7	15	7	15	---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68378917	68378917	+	Missense_Mutation	SNP	G	G	T	rs372799008		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:68378917G>T	ENST00000249636.6	+	2	446	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	PIAS1_ENST00000545237.1_Missense_Mutation_p.D102Y	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	100					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D100Y(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACTCACTTACGATGGTCACCC	0.478																																						uc002aqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(298-300)GAT>TAT		protein inhibitor of activated STAT, 1							219.0	215.0	216.0					15																	68378917		2071	4214	6285	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68378917G>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.298G>T	15.37:g.68378917G>T	ENSP00000249636:p.Asp100Tyr					PIAS1_uc010ujx.1_Missense_Mutation_p.D100Y	p.D100Y	NM_016166	NP_057250	O75925	PIAS1_HUMAN			2	394	+			100					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.298G>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390733	0.62066	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.32023	1.47;1.47	5.28	5.28	0.74379	.	0.094314	0.64402	D	0.000001	T	0.42131	0.1189	L	0.54323	1.7	0.80722	D	1	D;D	0.57257	0.979;0.977	P;P	0.50537	0.612;0.643	T	0.24261	-1.0165	10	0.46703	T	0.11	-11.1855	18.5071	0.90901	0.0:0.0:1.0:0.0	.	100;100	C5J4B4;O75925	.;PIAS1_HUMAN	Y	100;102	ENSP00000249636:D100Y;ENSP00000438574:D102Y	ENSP00000249636:D100Y	D	+	1	0	PIAS1	66165971	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	9.476000	0.97823	2.478000	0.83669	0.650000	0.86243	GAT		PASS	0.478	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			4	114	4	114	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	823224	823224	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:823224G>A	ENST00000442466.1	-	9	990	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Silent_p.L682L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	331					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L682L(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGCCATCCAGGCAGGACTCA	0.632																																						uc002cjz.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)	4						c.(2044-2046)CTG>TTG		mesothelin-like							55.0	64.0	61.0					16																	823224		2154	4244	6398	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:823224G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.991C>T	16.37:g.823224G>A							p.L682L	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			10	2044	-			331			Extracellular (Potential).			Silent	SNP	ENST00000442466.1	37	c.2044C>T																																																																																					PASS	0.632	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		21	14	21	14	---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1557674	1557674	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:1557674G>T	ENST00000262319.6	+	20	2643	c.2364G>T	c.(2362-2364)gaG>gaT	p.E788D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	788					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.E788D(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCCTGCTGGAGGACCTGATGG	0.687																																						uc002cly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2362-2364)GAG>GAT		TEL2, telomere maintenance 2, homolog							54.0	47.0	49.0					16																	1557674		2198	4298	6496	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1557674G>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2364G>T	16.37:g.1557674G>T	ENSP00000262319:p.Glu788Asp						p.E788D	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			20	2655	+		Hepatocellular(780;0.219)	788					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.2364G>T	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	7.267	0.606280	0.14002	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.35048	1.33	5.15	-4.18	0.03846	.	1.361880	0.04100	N	0.312693	T	0.20941	0.0504	L	0.27053	0.805	0.09310	N	0.999999	B	0.28233	0.204	B	0.26310	0.068	T	0.14587	-1.0467	10	0.14656	T	0.56	-4.6886	5.9652	0.19320	0.4561:0.0:0.3452:0.1987	.	788	Q9Y4R8	TELO2_HUMAN	D	311;788	ENSP00000262319:E788D	ENSP00000262319:E788D	E	+	3	2	TELO2	1497675	0.380000	0.25131	0.026000	0.17262	0.430000	0.31655	0.574000	0.23714	-0.520000	0.06435	0.462000	0.41574	GAG		PASS	0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		4	8	4	8	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2331382	2331382	+	Splice_Site	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:2331382C>A	ENST00000301732.5	-	27	4864	c.4164G>T	c.(4162-4164)aaG>aaT	p.K1388N	ABCA3_ENST00000382381.3_Splice_Site_p.K1330N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1388	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.K1388N(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCAAGGGTACCTTGGAGAGCT	0.607																																						uc002cpy.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(4162-4164)AAG>AAT		ATP-binding cassette, sub-family A member 3							85.0	86.0	86.0					16																	2331382		2198	4300	6498	SO:0001630	splice_region_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2331382C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4164+1G>T	16.37:g.2331382C>A						ABCA3_uc010bsk.1_Missense_Mutation_p.K1330N	p.K1388N	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			27	4876	-		Ovarian(90;0.17)	1388			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.4164G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047051	0.75846	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.93811	-3.29	5.54	4.59	0.56863	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	H	0.96604	3.85	0.80722	D	1	P;D	0.76494	0.762;0.999	P;D	0.70935	0.542;0.971	D	0.97892	1.0298	9	.	.	.	.	11.4498	0.50145	0.0:0.916:0.0:0.084	.	1392;1388	Q4LE27;Q99758	.;ABCA3_HUMAN	N	1388;1392	ENSP00000301732:K1388N	.	K	-	3	2	ABCA3	2271383	1.000000	0.71417	0.998000	0.56505	0.440000	0.31957	3.638000	0.54332	1.333000	0.45449	0.655000	0.94253	AAG		PASS	0.607	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Missense_Mutation	5	62	5	62	---	---	---	---
ZNF213	7760	broad.mit.edu	37	16	3187644	3187644	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:3187644G>A	ENST00000396878.3	+	2	838	c.363G>A	c.(361-363)gaG>gaA	p.E121E	RP11-473M20.14_ENST00000575089.1_RNA|RP11-473M20.14_ENST00000571449.1_RNA|ZNF213_ENST00000574902.1_Silent_p.E121E|ZNF213_ENST00000416391.2_5'UTR|RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000576416.1_Silent_p.E121E|RP11-473M20.14_ENST00000576590.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E121E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCTTGGTGGAGGACCTACAGA	0.627																																						uc010uws.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)GAG>GAA		zinc finger protein 213							21.0	22.0	22.0					16																	3187644		2197	4299	6496	SO:0001819	synonymous_variant	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3187644G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.363G>A	16.37:g.3187644G>A						ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_Silent_p.E121E|ZNF213_uc010bth.2_Silent_p.E121E|ZNF213_uc010uwt.1_Silent_p.E121E	p.E121E	NM_004220	NP_004211	O14771	ZN213_HUMAN			2	810	+			121			SCAN box.		A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	c.363G>A	CCDS10495.1																																																																																				PASS	0.627	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		8	4	8	4	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3614540	3614541	+	RNA	DNP	CG	CG	TT	rs201854363	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:3614540_3614541CG>TT	ENST00000301749.7	-	0	802_803				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R180Q(1)|p.R180R(1)|p.R180K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACAGACACCCGGGAGAGAGGC	0.703																																						uc010btn.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(397-399)CGG>CAG|c.(397-399)CGG>AGG		NOD3 protein																																						197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614540C>T|g.chr16:3614541G>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561	ENST00000301749.7:c.397_398delinsTT	16.37:g.3614540_3614541delinsTT							p.R133Q|p.R133R	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	809|808	-			133					Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation|Silent	SNP	ENST00000301749.7	37	c.398G>A|c.397C>A																																																																																					PASS	0.703	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		7	11|12	7	11	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4163760	4163760	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:4163760G>T	ENST00000294016.3	-	2	2222	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	562					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.Q562K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTTTCAACTGGTCAGCAACC	0.468																																						uc002cvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1684-1686)CAG>AAG		adenylate cyclase 9							134.0	126.0	129.0					16																	4163760		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4163760G>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1684C>A	16.37:g.4163760G>T	ENSP00000294016:p.Gln562Lys						p.Q562K	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	2223	-			562			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1684C>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251489	0.39797	.	.	ENSG00000162104	ENST00000294016	D	0.82344	-1.6	5.19	5.19	0.71726	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	N	0.12182	0.205	0.58432	D	0.999998	B	0.26147	0.143	B	0.27262	0.078	T	0.66602	-0.5882	10	0.10377	T	0.69	.	18.7461	0.91794	0.0:0.0:1.0:0.0	.	562	O60503	ADCY9_HUMAN	K	562	ENSP00000294016:Q562K	ENSP00000294016:Q562K	Q	-	1	0	ADCY9	4103761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.438000	0.82558	0.555000	0.69702	CAG		PASS	0.468	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			5	85	5	85	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335151	20335151	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:20335151C>A	ENST00000381362.4	-	3	598	c.522G>T	c.(520-522)ctG>ctT	p.L174L	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Silent_p.L174L	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	174					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.L174L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCAGTATCTCAGATTACACC	0.572																																						uc002dgv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(520-522)CTG>CTT		zymogen granule membrane glycoprotein 2 isoform							22.0	22.0	22.0					16																	20335151		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335151C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.522G>T	16.37:g.20335151C>A						GP2_uc002dgw.2_Silent_p.L174L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	p.L174L	NM_001007240	NP_001007241	P55259	GP2_HUMAN			3	605	-			174					A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.522G>T	CCDS42128.1																																																																																				PASS	0.572	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		8	8	8	8	---	---	---	---
COG7	91949	broad.mit.edu	37	16	23456434	23456434	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:23456434A>T	ENST00000307149.5	-	3	555	c.370T>A	c.(370-372)Tct>Act	p.S124T	CTD-2270L9.2_ENST00000561624.2_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	124					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.S124T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCCTGAAGAGATTCGGCAGCA	0.453																																						uc002dlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)TCT>ACT		component of oligomeric golgi complex 7							182.0	162.0	169.0					16																	23456434		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23456434A>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.370T>A	16.37:g.23456434A>T	ENSP00000305442:p.Ser124Thr						p.S124T	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	3	558	-			124					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.370T>A	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443865	0.63067	.	.	ENSG00000168434	ENST00000307149	T	0.41758	0.99	5.55	5.55	0.83447	.	0.100806	0.64402	D	0.000001	T	0.42381	0.1200	L	0.53249	1.67	0.52501	D	0.999959	P	0.35124	0.485	B	0.40741	0.339	T	0.22173	-1.0224	10	0.10636	T	0.68	-25.1687	14.8794	0.70519	1.0:0.0:0.0:0.0	.	124	P83436	COG7_HUMAN	T	124	ENSP00000305442:S124T	ENSP00000305442:S124T	S	-	1	0	COG7	23363935	1.000000	0.71417	0.964000	0.40570	0.995000	0.86356	6.661000	0.74422	2.102000	0.63906	0.472000	0.43445	TCT		PASS	0.453	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			8	87	8	87	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24583481	24583481	+	Silent	SNP	C	C	G	rs199542387		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:24583481C>G	ENST00000319715.4	+	18	5526	c.5094C>G	c.(5092-5094)gtC>gtG	p.V1698V	RBBP6_ENST00000381039.3_Silent_p.V858V|RBBP6_ENST00000348022.2_Silent_p.V1664V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1698					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V1698V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCCCCAGCGTCAGCCCCAGCA	0.527																																						uc002dmh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(5092-5094)GTC>GTG		retinoblastoma-binding protein 6 isoform 1							55.0	57.0	56.0					16																	24583481		2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583481C>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.5094C>G	16.37:g.24583481C>G						RBBP6_uc002dmi.2_Silent_p.V1664V|RBBP6_uc010bxr.2_Silent_p.V858V|RBBP6_uc002dmk.2_Silent_p.V1531V	p.V1698V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	6134	+			1698					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.5094C>G	CCDS10621.1																																																																																				PASS	0.527	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		8	31	8	31	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24922792	24922792	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:24922792C>A	ENST00000347898.3	+	16	2588	c.1966C>A	c.(1966-1968)Ctg>Atg	p.L656M	SLC5A11_ENST00000545376.1_Missense_Mutation_p.L586M|SLC5A11_ENST00000565769.1_Missense_Mutation_p.L592M|SLC5A11_ENST00000539472.1_Missense_Mutation_p.L592M|SLC5A11_ENST00000449109.2_Missense_Mutation_p.L500M|SLC5A11_ENST00000568579.1_Missense_Mutation_p.L586M|SLC5A11_ENST00000569071.1_Missense_Mutation_p.L500M|SLC5A11_ENST00000424767.2_Missense_Mutation_p.L621M|SLC5A11_ENST00000567758.1_Missense_Mutation_p.L621M	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.L656M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAAGACCCTCCTGGACGTCAA	0.527																																						uc002dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1966-1968)CTG>ATG		solute carrier family 5 (sodium/glucose							188.0	190.0	189.0					16																	24922792		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24922792C>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1966C>A	16.37:g.24922792C>A	ENSP00000289932:p.Leu656Met					SLC5A11_uc002dms.2_Missense_Mutation_p.L592M|SLC5A11_uc010vcd.1_Missense_Mutation_p.L621M|SLC5A11_uc002dmt.2_Missense_Mutation_p.L500M|SLC5A11_uc010vce.1_Missense_Mutation_p.L586M|SLC5A11_uc010bxt.2_Missense_Mutation_p.L592M|SLC5A11_uc002dmv.2_Missense_Mutation_p.L279M	p.L656M	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	16	2198	+			656			Helical; (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.1966C>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739799	0.30865	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.88896	-2.31;-2.07;-2.44;-2.42;-2.44	5.66	3.66	0.41972	.	0.220716	0.38778	N	0.001574	D	0.91955	0.7452	M	0.64997	1.995	0.36953	D	0.89295	D;D;P;D	0.76494	0.998;0.999;0.867;0.959	D;D;B;P	0.71870	0.951;0.975;0.323;0.556	D	0.92087	0.5677	10	0.51188	T	0.08	.	9.8825	0.41242	0.0:0.8266:0.0:0.1734	.	586;621;656;500	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	M	656;500;621;586;592	ENSP00000289932:L656M;ENSP00000389606:L500M;ENSP00000416782:L621M;ENSP00000441384:L586M;ENSP00000441018:L592M	ENSP00000289932:L656M	L	+	1	2	SLC5A11	24830293	0.897000	0.30589	0.480000	0.27341	0.160000	0.22226	1.520000	0.35899	0.696000	0.31696	-0.300000	0.09419	CTG		PASS	0.527	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		79	84	79	84	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847341	28847341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:28847341C>T	ENST00000336783.4	+	22	3150	c.2983C>T	c.(2983-2985)Cag>Tag	p.Q995*	ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.Q995*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.Q995*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.Q995*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.Q995*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.Q1001*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.Q995*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	995					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.Q995*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCACCCACCCCAGAGTCATGG	0.672																																						uc002drc.2																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2983-2985)CAG>TAG		ataxin 2 related protein isoform A							31.0	41.0	37.0					16																	28847341		2072	4176	6248	SO:0001587	stop_gained	11273					membrane		g.chr16:28847341C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2983C>T	16.37:g.28847341C>T	ENSP00000338718:p.Gln995*					uc010vct.1_Intron|ATXN2L_uc002drb.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc002dqy.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc002dra.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc002dqz.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc010vdb.1_Nonsense_Mutation_p.Q1001*|ATXN2L_uc002dre.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc002drf.2_Nonsense_Mutation_p.Q404*|ATXN2L_uc002drg.2_Nonsense_Mutation_p.Q278*	p.Q995*	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			22	3151	+			995					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	ENST00000336783.4	37	c.2983C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	40	8.140729	0.98672	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-11.2417	18.8665	0.92294	0.0:1.0:0.0:0.0	.	.	.	.	X	995	.	ENSP00000315650:Q995X	Q	+	1	0	ATXN2L	28754842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.532000	0.60608	2.753000	0.94483	0.467000	0.42956	CAG		PASS	0.672	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		6	28	6	28	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31089893	31089893	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:31089893G>A	ENST00000394979.2	+	1	2671	c.2248G>A	c.(2248-2250)Ggt>Agt	p.G750S	ZNF646_ENST00000300850.5_Missense_Mutation_p.G750S			O15015	ZN646_HUMAN	zinc finger protein 646	750					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G750S(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCATTTCCAGGGTGATAAAGA	0.532																																						uc002eap.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(2248-2250)GGT>AGT		zinc finger protein 646							130.0	128.0	129.0					16																	31089893		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089893G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2248G>A	16.37:g.31089893G>A	ENSP00000378429:p.Gly750Ser						p.G750S	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	2537	+			750					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.2248G>A		.	.	.	.	.	.	.	.	.	.	G	15.21	2.766491	0.49574	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08634	3.07;3.1	5.5	2.0	0.26442	.	.	.	.	.	T	0.06872	0.0175	L	0.29908	0.895	0.28927	N	0.89178	B	0.19331	0.035	B	0.17722	0.019	T	0.19516	-1.0303	9	0.66056	D	0.02	-0.9545	7.9105	0.29787	0.3015:0.0:0.6985:0.0	.	750	O15015-2	.	S	750	ENSP00000300850:G750S;ENSP00000378429:G750S	ENSP00000300850:G750S	G	+	1	0	ZNF646	30997394	0.001000	0.12720	0.980000	0.43619	0.422000	0.31414	0.103000	0.15292	0.696000	0.31696	0.563000	0.77884	GGT		PASS	0.532	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		15	79	15	79	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48119595	48119595	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:48119595A>G	ENST00000311303.3	-	27	4082	c.3737T>C	c.(3736-3738)tTa>tCa	p.L1246S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1246	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L1246S(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCTGCCTGTAATTTTTCTGG	0.403																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3736-3738)TTA>TCA		ATP-binding cassette protein C12							155.0	155.0	155.0					16																	48119595		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48119595A>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3737T>C	16.37:g.48119595A>G	ENSP00000311030:p.Leu1246Ser					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.L1246S	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			27	4083	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1246			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.3737T>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737032	0.69304	.	.	ENSG00000140798	ENST00000311303	D	0.91464	-2.85	5.59	4.49	0.54785	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.080645	0.51477	D	0.000088	D	0.96580	0.8884	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96668	0.9494	10	0.87932	D	0	.	12.0152	0.53309	0.8551:0.1449:0.0:0.0	.	1246	Q96J65	MRP9_HUMAN	S	1246	ENSP00000311030:L1246S	ENSP00000311030:L1246S	L	-	2	0	ABCC12	46677096	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.647000	0.67923	0.941000	0.37499	-0.291000	0.09656	TTA		PASS	0.403	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		12	40	12	40	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53499487	53499488	+	Nonsense_Mutation	DNP	TG	TG	GT			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:53499487_53499488TG>GT	ENST00000262133.6	+	13	1973_1974	c.1836_1837TG>GT	c.(1834-1839)aaTGaa>aaGTaa	p.612_613NE>K*	RBL2_ENST00000544545.1_Nonsense_Mutation_p.396_397NE>K*|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	612	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.N612K(1)|p.N612_E613>K*(1)|p.E613*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTAGAGACAATGAAAACAGAGT	0.342																																						uc002ehi.3																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1834-1836)AAT>AAG|c.(1837-1839)GAA>TAA		retinoblastoma-like 2 (p130)																																				SO:0001587	stop_gained	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53499487T>G|g.chr16:53499488G>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	Exception_encountered	16.37:g.53499487_53499488delinsGT	ENSP00000262133:p.N612_E613delinsK*					RBL2_uc010vgv.1_Missense_Mutation_p.N538K|RBL2_uc002ehj.2_Missense_Mutation_p.N322K|RBL2_uc010vgw.1_Missense_Mutation_p.N396K|RBL2_uc010vgv.1_Nonsense_Mutation_p.E539*|RBL2_uc002ehj.2_Nonsense_Mutation_p.E323*|RBL2_uc010vgw.1_Nonsense_Mutation_p.E397*	p.N612K|p.E613*	NM_005611	NP_005602	Q08999	RBL2_HUMAN			13	1954|1955	+			612|613			Domain A.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000262133.6	37	c.1836T>G|c.1837G>T	CCDS10748.1																																																																																				PASS	0.342	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		12	34	12	34	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72157488	72157488	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:72157488C>G	ENST00000537792.1	-	2	147	c.148G>C	c.(148-150)Gat>Cat	p.D50H	PMFBP1_ENST00000355636.6_Missense_Mutation_p.D739H|PMFBP1_ENST00000537465.1_Missense_Mutation_p.D889H|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D884H			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	889						cytoplasm (GO:0005737)		p.D884H(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATAATCTGATCATTCCCTCGG	0.557																																						uc002fcc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2665-2667)GAT>CAT		polyamine modulated factor 1 binding protein 1							118.0	99.0	105.0					16																	72157488		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72157488C>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.148G>C	16.37:g.72157488C>G	ENSP00000443366:p.Asp50His					PMFBP1_uc002fcd.2_Missense_Mutation_p.D884H|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.D739H	p.D889H	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			18	2837	-		Ovarian(137;0.179)	889					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537792.1	37	c.2665G>C		.	.	.	.	.	.	.	.	.	.	C	13.31	2.198874	0.38806	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	T;T;T;T	0.55052	0.54;2.41;2.42;2.39	4.95	3.96	0.45880	.	0.000000	0.50627	D	0.000108	T	0.67785	0.2930	M	0.68317	2.08	0.33277	D	0.561837	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.971;0.998	T	0.76154	-0.3063	10	0.87932	D	0	-23.1327	11.3106	0.49362	0.0:0.8172:0.1828:0.0	.	889;884;889	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	H	50;889;884;739	ENSP00000443366:D50H;ENSP00000443817:D889H;ENSP00000237353:D884H;ENSP00000347854:D739H	ENSP00000237353:D884H	D	-	1	0	PMFBP1	70714989	0.526000	0.26298	0.992000	0.48379	0.088000	0.18126	1.244000	0.32778	2.583000	0.87209	0.650000	0.86243	GAT		PASS	0.557	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		24	18	24	18	---	---	---	---
MLYCD	23417	broad.mit.edu	37	16	83941731	83941731	+	Splice_Site	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:83941731G>T	ENST00000262430.4	+	3	661	c.642G>T	c.(640-642)gaG>gaT	p.E214D	RP11-505K9.4_ENST00000566309.1_5'Flank	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	214	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)	p.E214D(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCCGCCCCAGGGCTGAGGCTG	0.468																																						uc002fgz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)GAG>GAT		malonyl-CoA decarboxylase precursor							48.0	50.0	50.0					16																	83941731		2026	4200	6226	SO:0001630	splice_region_variant	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83941731G>T	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.642-1G>T	16.37:g.83941731G>T							p.E214D	NM_012213	NP_036345	O95822	DCMC_HUMAN			3	662	+			214					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.642G>T	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	G	4.727	0.135273	0.09032	.	.	ENSG00000103150	ENST00000262430	D	0.91521	-2.86	5.4	1.15	0.20763	.	0.105842	0.64402	D	0.000004	T	0.81173	0.4767	L	0.34521	1.04	0.50039	D	0.999843	B	0.15930	0.015	B	0.18871	0.023	T	0.66372	-0.5940	9	.	.	.	.	5.0176	0.14345	0.3266:0.0:0.528:0.1454	.	214	O95822	DCMC_HUMAN	D	214	ENSP00000262430:E214D	.	E	+	3	2	MLYCD	82499232	1.000000	0.71417	0.577000	0.28562	0.002000	0.02628	3.563000	0.53784	0.311000	0.23014	-0.794000	0.03295	GAG		PASS	0.468	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213	Missense_Mutation	21	13	21	13	---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84218511	84218511	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:84218511C>A	ENST00000567759.1	-	2	266	c.84G>T	c.(82-84)atG>atT	p.M28I	TAF1C_ENST00000378541.4_Missense_Mutation_p.M28I|TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000566732.1_Missense_Mutation_p.M28I|TAF1C_ENST00000341690.6_Intron	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	28					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.M28I(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCAGCTGCACATGAAAGAGA	0.627																																						uc002fhn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)ATG>ATT		TBP-associated factor 1C isoform 1							37.0	34.0	35.0					16																	84218511		2199	4300	6499	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84218511C>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.84G>T	16.37:g.84218511C>A	ENSP00000455265:p.Met28Ile					TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Missense_Mutation_p.M28I|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Missense_Mutation_p.M28I	p.M28I	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			2	312	-			28					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.84G>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013932	0.19277	.	.	ENSG00000103168	ENST00000378541;ENST00000537450	T	0.39592	1.07	4.01	2.96	0.34315	.	0.390538	0.24154	N	0.041056	T	0.38904	0.1058	M	0.68317	2.08	0.80722	D	1	B;B;B	0.26845	0.008;0.013;0.161	B;B;B	0.27380	0.022;0.022;0.079	T	0.45056	-0.9287	10	0.56958	D	0.05	-21.6004	8.3452	0.32268	0.2347:0.7653:0.0:0.0	.	28;28;28	F5H7W6;Q15572-6;Q15572	.;.;TAF1C_HUMAN	I	28	ENSP00000367802:M28I	ENSP00000367802:M28I	M	-	3	0	TAF1C	82776012	0.996000	0.38824	1.000000	0.80357	0.065000	0.16274	1.208000	0.32345	2.232000	0.73038	0.555000	0.69702	ATG		PASS	0.627	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		8	11	8	11	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90102917	90102917	+	Nonsense_Mutation	SNP	G	G	T	rs574664551		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr16:90102917G>T	ENST00000268699.4	+	6	801	c.679G>T	c.(679-681)Gag>Tag	p.E227*	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Nonsense_Mutation_p.E202*	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	227	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.E227*(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GCAGCGCCACGAGGAGGCCTT	0.567																																						uc002fqi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(679-681)GAG>TAG		growth arrest-specific 8							122.0	82.0	96.0					16																	90102917		2198	4300	6498	SO:0001587	stop_gained	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90102917G>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.679G>T	16.37:g.90102917G>T	ENSP00000268699:p.Glu227*					GAS8_uc010vps.1_Nonsense_Mutation_p.E202*|GAS8_uc002fqh.2_Nonsense_Mutation_p.E144*|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_Nonsense_Mutation_p.E144*|GAS8_uc010vpv.1_Nonsense_Mutation_p.E198*|GAS8_uc010cjc.1_Nonsense_Mutation_p.E144*|GAS8_uc010vpw.1_Nonsense_Mutation_p.E144*|GAS8_uc002fqj.1_Nonsense_Mutation_p.E35*	p.E227*	NM_001481	NP_001472	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	6	801	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	227			Microtubule-binding.		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Nonsense_Mutation	SNP	ENST00000268699.4	37	c.679G>T	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693637	0.96793	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	.	.	.	4.99	4.99	0.66335	.	0.102178	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-38.6224	18.2872	0.90118	0.0:0.0:1.0:0.0	.	.	.	.	X	202;227;198	.	.	E	+	1	0	GAS8	88630418	1.000000	0.71417	0.919000	0.36401	0.509000	0.34042	4.762000	0.62250	2.315000	0.78130	0.655000	0.94253	GAG		PASS	0.567	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			4	23	4	23	---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2075968	2075968	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:2075968T>A	ENST00000263073.6	-	13	3391	c.3341A>T	c.(3340-3342)gAg>gTg	p.E1114V	SMG6_ENST00000354901.4_Missense_Mutation_p.E206V|SMG6_ENST00000536871.2_Missense_Mutation_p.E206V|SMG6_ENST00000544865.1_Missense_Mutation_p.E1083V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1114					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.E1114V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGAGGTTTTCTCCACGTAGCA	0.547																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)|kidney(1)	4						c.(3340-3342)GAG>GTG		Smg-6 homolog, nonsense mediated mRNA decay							74.0	72.0	73.0					17																	2075968		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2075968T>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3341A>T	17.37:g.2075968T>A	ENSP00000263073:p.Glu1114Val					SMG6_uc010vqv.1_Missense_Mutation_p.E206V	p.E1114V	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			13	3396	-			1114					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.3341A>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307036	0.40795	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.18016	2.24;2.24;2.24	6.02	6.02	0.97574	.	0.217078	0.42294	D	0.000738	T	0.15739	0.0379	N	0.19112	0.55	0.34361	D	0.690972	D	0.53151	0.958	P	0.45138	0.471	T	0.13282	-1.0515	10	0.72032	D	0.01	-11.6062	15.1137	0.72380	0.0:0.0:0.0:1.0	.	1114	Q86US8	EST1A_HUMAN	V	1114;1083;206	ENSP00000263073:E1114V;ENSP00000443920:E1083V;ENSP00000440283:E206V	ENSP00000263073:E1114V	E	-	2	0	SMG6	2022718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.877000	0.75562	2.309000	0.77851	0.448000	0.29417	GAG		PASS	0.547	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			30	5	30	5	---	---	---	---
OR1A2	26189	broad.mit.edu	37	17	3101463	3101463	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:3101463T>C	ENST00000381951.1	+	1	651	c.651T>C	c.(649-651)taT>taC	p.Y217Y		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	217					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y217Y(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTGTCTCCTATGTTCAGGTCT	0.433																																						uc002fvd.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(649-651)TAT>TAC		olfactory receptor, family 1, subfamily A,							224.0	195.0	205.0					17																	3101463		2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101463T>C	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.651T>C	17.37:g.3101463T>C							p.Y217Y	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			1	651	+			217			Helical; Name=5; (Potential).		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.651T>C	CCDS11021.1																																																																																				PASS	0.433	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		103	32	103	32	---	---	---	---
OR1E2	8388	broad.mit.edu	37	17	3337053	3337053	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:3337053T>C	ENST00000248384.1	-	1	82	c.83A>G	c.(82-84)tAt>tGt	p.Y28C		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	28					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.Y28C(1)		endometrium(3)|large_intestine(3)|lung(3)	9						GAACAGGGCATAGCACAGGTT	0.522																																						uc010vre.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(82-84)TAT>TGT		olfactory receptor, family 1, subfamily E,							64.0	65.0	65.0					17																	3337053		2202	4280	6482	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3337053T>C	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.83A>G	17.37:g.3337053T>C	ENSP00000248384:p.Tyr28Cys						p.Y28C	NM_003554	NP_003545	P47887	OR1E2_HUMAN			1	83	-			28			Helical; Name=1; (Potential).		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.83A>G	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816312	0.50527	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.00583	6.41	5.34	1.62	0.23740	.	0.116901	0.39210	N	0.001440	T	0.00637	0.0021	L	0.37630	1.12	0.30389	N	0.78121	B	0.15473	0.013	B	0.20767	0.031	T	0.24119	-1.0169	10	0.72032	D	0.01	.	10.4396	0.44457	0.585:0.0:0.0:0.4149	.	28	P47887	OR1E2_HUMAN	C	28;27	ENSP00000248384:Y28C	ENSP00000248384:Y28C	Y	-	2	0	OR1E2	3283803	0.922000	0.31269	0.010000	0.14722	0.736000	0.42039	1.783000	0.38664	0.440000	0.26502	0.473000	0.43528	TAT		PASS	0.522	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			40	12	40	12	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	G	rs11540652		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:7577538C>G	ENST00000269305.4	-	7	932	c.743G>C	c.(742-744)cGg>cCg	p.R248P	TP53_ENST00000455263.2_Missense_Mutation_p.R248P|TP53_ENST00000445888.2_Missense_Mutation_p.R248P|TP53_ENST00000420246.2_Missense_Mutation_p.R248P|TP53_ENST00000359597.4_Missense_Mutation_p.R248P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CCG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							152.0	112.0	126.0					17																	7577538		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>C	17.37:g.7577538C>G	ENSP00000269305:p.Arg248Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248P|TP53_uc002gih.2_Missense_Mutation_p.R248P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116P|TP53_uc010cng.1_Missense_Mutation_p.R116P|TP53_uc002gii.1_Missense_Mutation_p.R116P|TP53_uc010cnh.1_Missense_Mutation_p.R248P|TP53_uc010cni.1_Missense_Mutation_p.R248P|TP53_uc002gij.2_Missense_Mutation_p.R248P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155P|TP53_uc002gio.2_Missense_Mutation_p.R116P	p.R248P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061628	0.76187	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999;0.999	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	P	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248P;ENSP00000352610:R248P;ENSP00000269305:R248P;ENSP00000398846:R248P;ENSP00000391127:R248P;ENSP00000391478:R248P;ENSP00000425104:R116P;ENSP00000423862:R155P	ENSP00000269305:R248P	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		PASS	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	8	25	8	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7710538	7710538	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:7710538G>T	ENST00000572933.1	+	62	10973	c.9513G>T	c.(9511-9513)aaG>aaT	p.K3171N	DNAH2_ENST00000389173.2_Missense_Mutation_p.K3171N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3171	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K3171N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCTGAAGAAGATTGGGGCCT	0.527																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(9511-9513)AAG>AAT		dynein heavy chain domain 3							112.0	112.0	112.0					17																	7710538		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7710538G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9513G>T	17.37:g.7710538G>T	ENSP00000458355:p.Lys3171Asn					DNAH2_uc010cnm.1_Missense_Mutation_p.K109N	p.K3171N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			61	9527	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3171			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9513G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	g	18.81	3.703574	0.68501	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.74106	-0.81	5.18	4.21	0.49690	Dynein heavy chain, coiled coil stalk (1);	0.179793	0.45126	D	0.000395	D	0.85344	0.5675	M	0.88031	2.925	0.80722	D	1	P;D	0.60575	0.846;0.988	B;D	0.65323	0.379;0.934	D	0.84695	0.0725	10	0.19147	T	0.46	.	13.046	0.58925	0.0799:0.0:0.9201:0.0	.	3132;3171	Q9P225-2;Q9P225	.;DYH2_HUMAN	N	3132;3171	ENSP00000373825:K3171N	ENSP00000353818:K3132N	K	+	3	2	DNAH2	7651263	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.023000	0.41040	1.342000	0.45619	0.580000	0.79431	AAG		PASS	0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		54	16	54	16	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10412856	10412857	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:10412856_10412857CC>AA	ENST00000226207.5	-	15	1626_1627	c.1532_1533GG>TT	c.(1531-1533)tGG>tTT	p.W511F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	511	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.W511C(1)|p.W511F(1)|p.W511L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAATGAACGTCCACTCAATGCC	0.485																																						uc002gmo.2																			3	Substitution - Missense(3)		lung(3)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1531-1533)TGG>TGT|c.(1531-1533)TGG>TTG		myosin, heavy chain 1, skeletal muscle, adult																																				SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10412856C>A|g.chr17:10412857C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1532_1533delinsAA	17.37:g.10412856_10412857delinsAA	ENSP00000226207:p.Trp511Phe					uc002gml.1_Intron	p.W511C|p.W511L	NM_005963	NP_005954	P12882	MYH1_HUMAN			15	1627|1626	-			511			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1533G>T|c.1532G>T	CCDS11155.1																																																																																				PASS	0.485	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		44|45	29|27	44	27	---	---	---	---
ARHGAP44	9912	broad.mit.edu	37	17	12860030	12860030	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:12860030A>G	ENST00000379672.5	+	15	1609	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.I437V|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.I437V	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	437	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.I437V(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CATTGAACCTATCATCCAGCA	0.527																																						uc002gnr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)ATC>GTC		Rho GTPase-activating protein RICH2							93.0	93.0	93.0					17																	12860030		2100	4244	6344	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12860030A>G		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1309A>G	17.37:g.12860030A>G	ENSP00000368994:p.Ile437Val					RICH2_uc010vvk.1_Missense_Mutation_p.I437V|RICH2_uc010vvl.1_Missense_Mutation_p.I437V|RICH2_uc002gns.3_Missense_Mutation_p.I237V|RICH2_uc010vvm.1_Missense_Mutation_p.I437V|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_Missense_Mutation_p.I160V	p.I437V	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			15	1636	+			437			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.1309A>G	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680507	0.29872	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825	T;T	0.12465	2.68;2.68	5.85	5.85	0.93711	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.058807	0.64402	D	0.000003	T	0.19087	0.0458	M	0.66297	2.02	0.50632	D	0.99988	B;B;B;P	0.36577	0.198;0.228;0.338;0.558	B;B;B;B	0.39935	0.068;0.146;0.281;0.314	T	0.01561	-1.1324	10	0.72032	D	0.01	.	9.4806	0.38898	0.8423:0.0:0.0:0.1577	.	437;82;99;437	A6NCP5;Q9Y4Q4;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	V	437;99;437	ENSP00000368994:I437V;ENSP00000342566:I437V	ENSP00000342566:I437V	I	+	1	0	ARHGAP44	12800755	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	4.522000	0.60539	2.238000	0.73509	0.477000	0.44152	ATC		PASS	0.527	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		17	7	17	7	---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30696771	30696771	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:30696771G>T	ENST00000321233.6	+	11	1584	c.1430G>T	c.(1429-1431)cGt>cTt	p.R477L	ZNF207_ENST00000394670.4_Missense_Mutation_p.R493L|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496L|ZNF207_ENST00000341711.6_Missense_Mutation_p.R394L|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462L|ZNF207_ENST00000577908.1_Intron	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	477					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R477L(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAGGTGGCCGTTACTGATCT	0.507																																						uc002hhh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1429-1431)CGT>CTT		zinc finger protein 207 isoform a							82.0	71.0	75.0					17																	30696771		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30696771G>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1430G>T	17.37:g.30696771G>T	ENSP00000322777:p.Arg477Leu					ZNF207_uc002hhj.3_Missense_Mutation_p.R493L|ZNF207_uc002hhi.3_Missense_Mutation_p.R462L|ZNF207_uc010csz.2_Missense_Mutation_p.R496L|ZNF207_uc002hhk.1_Intron|ZNF207_uc002hhl.1_RNA	p.R477L	NM_003457	NP_003448	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		11	1578	+		Breast(31;0.116)|Ovarian(249;0.182)	477					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1430G>T	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810329	0.50421	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T	0.54071	0.63;0.75;0.59	5.65	4.69	0.59074	.	.	.	.	.	T	0.49712	0.1573	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.60575	0.988;0.988;0.988;0.988	P;P;P;P	0.54889	0.763;0.763;0.763;0.763	T	0.58346	-0.7652	9	0.87932	D	0	.	14.8335	0.70166	0.0692:0.0:0.9308:0.0	.	446;493;462;477	A8MTG3;E1P660;O43670-2;O43670	.;.;.;ZN207_HUMAN	L	493;446;462;394;477	ENSP00000378165:R493L;ENSP00000322777:R462L;ENSP00000344913:R394L	ENSP00000322777:R462L	R	+	2	0	ZNF207	27720884	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.004000	0.88535	1.406000	0.46857	-0.320000	0.08662	CGT		PASS	0.507	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			14	24	14	24	---	---	---	---
FBXO47	494188	broad.mit.edu	37	17	37099956	37099956	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:37099956G>T	ENST00000378079.2	-	8	1026	c.827C>A	c.(826-828)cCt>cAt	p.P276H		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	276								p.P276H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TTCATCTGTAGGTTCTTCTAT	0.383																																						uc002hrc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)CCT>CAT		F-box protein 47							125.0	119.0	121.0					17																	37099956		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37099956G>T		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.827C>A	17.37:g.37099956G>T	ENSP00000367319:p.Pro276His						p.P276H	NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN			8	1027	-			276					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.827C>A	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237630	0.58886	.	.	ENSG00000204952	ENST00000378079	T	0.47528	0.84	5.75	4.76	0.60689	.	0.526265	0.21576	N	0.072336	T	0.60495	0.2273	L	0.60455	1.87	0.33948	D	0.644117	D	0.89917	1.0	D	0.67231	0.95	T	0.71820	-0.4477	10	0.72032	D	0.01	-4.2187	8.9313	0.35672	0.0783:0.151:0.7707:0.0	.	276	Q5MNV8	FBX47_HUMAN	H	276	ENSP00000367319:P276H	ENSP00000367319:P276H	P	-	2	0	FBXO47	34353482	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.452000	0.52971	1.396000	0.46663	0.650000	0.86243	CCT		PASS	0.383	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		5	58	5	58	---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43195803	43195803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:43195803C>A	ENST00000322765.5	-	6	1083	c.970G>T	c.(970-972)Gag>Tag	p.E324*	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	324					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E324*(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GCAGCCCCCTCCGGCGACAAC	0.577																																						uc002iib.2																			2	Substitution - Nonsense(2)		lung(2)	breast(2)|lung(1)	3						c.(970-972)GAG>TAG		phospholipase C delta 3	Phosphatidylserine(DB00144)						121.0	135.0	131.0					17																	43195803		2119	4224	6343	SO:0001587	stop_gained	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43195803C>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.970G>T	17.37:g.43195803C>A	ENSP00000313731:p.Glu324*						p.E324*	NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN			6	1084	-			324					Q8TEC1|Q8TF37|Q96FL6	Nonsense_Mutation	SNP	ENST00000322765.5	37	c.970G>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.250327	0.80024	.	.	ENSG00000161714	ENST00000322765	.	.	.	4.26	3.29	0.37713	.	0.236887	0.41712	D	0.000836	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.4144	0.49943	0.0:0.9083:0.0:0.0917	.	.	.	.	X	324	.	ENSP00000313731:E324X	E	-	1	0	PLCD3	40551329	0.997000	0.39634	0.657000	0.29651	0.371000	0.29859	5.890000	0.69774	1.136000	0.42199	0.455000	0.32223	GAG		PASS	0.577	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		5	59	5	59	---	---	---	---
HOXB7	3217	broad.mit.edu	37	17	46688189	46688189	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:46688189G>A	ENST00000239165.7	-	1	190	c.92C>T	c.(91-93)tCt>tTt	p.S31F	HOXB7_ENST00000567101.2_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	31					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S31F(1)		NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						AAACGCACAAGAAGTTTGTTC	0.552																																						uc002inv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)TCT>TTT		homeobox B7							30.0	33.0	32.0					17																	46688189		2186	4269	6455	SO:0001583	missense	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46688189G>A		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.92C>T	17.37:g.46688189G>A	ENSP00000239165:p.Ser31Phe						p.S31F	NM_004502	NP_004493	P09629	HXB7_HUMAN			1	195	-			31					A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	ENST00000239165.7	37	c.92C>T	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615567	0.87359	.	.	ENSG00000120087	ENST00000239165	T	0.37235	1.21	4.26	4.26	0.50523	.	0.062950	0.64402	D	0.000004	T	0.64832	0.2634	M	0.89534	3.04	0.58432	D	0.999999	D	0.69078	0.997	P	0.62813	0.907	T	0.75416	-0.3325	10	0.87932	D	0	.	16.4647	0.84074	0.0:0.0:1.0:0.0	.	31	P09629	HXB7_HUMAN	F	31	ENSP00000239165:S31F	ENSP00000239165:S31F	S	-	2	0	HOXB7	44043188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.207000	0.71202	0.555000	0.69702	TCT		PASS	0.552	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			13	37	13	37	---	---	---	---
PRR11	55771	broad.mit.edu	37	17	57262807	57262807	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:57262807G>A	ENST00000262293.4	+	4	598	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	96						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E96K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCAGAGTTTAGAAGTATTGAA	0.323																																						uc002ixf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(286-288)GAA>AAA		proline rich 11							69.0	70.0	69.0					17																	57262807		2203	4300	6503	SO:0001583	missense	55771							g.chr17:57262807G>A		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.286G>A	17.37:g.57262807G>A	ENSP00000262293:p.Glu96Lys					PRR11_uc002ixg.1_RNA	p.E96K	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN			4	365	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		96					Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	c.286G>A	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501481	0.44455	.	.	ENSG00000068489	ENST00000262293	.	.	.	6.03	4.0	0.46444	.	0.468200	0.21760	N	0.069535	T	0.36880	0.0983	L	0.32530	0.975	0.32877	D	0.509982	B	0.16802	0.019	B	0.16289	0.015	T	0.39860	-0.9593	9	0.16896	T	0.51	-22.2251	8.4085	0.32629	0.0818:0.1545:0.7637:0.0	.	96	Q96HE9	PRR11_HUMAN	K	96	.	ENSP00000262293:E96K	E	+	1	0	PRR11	54617589	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.361000	0.34136	0.839000	0.34971	0.655000	0.94253	GAA		PASS	0.323	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		21	41	21	41	---	---	---	---
CD300C	10871	broad.mit.edu	37	17	72539071	72539071	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:72539071G>T	ENST00000330793.1	-	3	816	c.456C>A	c.(454-456)ccC>ccA	p.P152P		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	152	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.P152P(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GCAGCTTCGTGGGAGGACCTG	0.637																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	uc002jky.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(454-456)CCC>CCA		CD300C antigen precursor							104.0	90.0	95.0					17																	72539071		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539071G>T	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.456C>A	17.37:g.72539071G>T							p.P152P	NM_006678	NP_006669	Q08708	CLM6_HUMAN			3	817	-			152			Pro-rich.|Extracellular (Potential).			Silent	SNP	ENST00000330793.1	37	c.456C>A	CCDS11701.1																																																																																				PASS	0.637	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		15	14	15	14	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73489806	73489806	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:73489806G>T	ENST00000314256.7	+	18	2610	c.2216G>T	c.(2215-2217)cGa>cTa	p.R739L	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R749L|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R390L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	739						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R739L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTACCAGCGAGCCTGCCTG	0.607																																						uc002jnz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2215-2217)CGA>CTA		hypothetical protein LOC9772							138.0	117.0	124.0					17																	73489806		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73489806G>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2216G>T	17.37:g.73489806G>T	ENSP00000313885:p.Arg739Leu					KIAA0195_uc010wsa.1_Missense_Mutation_p.R749L|KIAA0195_uc010wsb.1_Missense_Mutation_p.R379L|KIAA0195_uc002job.3_5'Flank	p.R739L	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2491	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		739					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.2216G>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301113	0.60195	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.82711	-1.64;-1.64	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.993;0.997;0.993	D	0.91802	0.5452	10	0.72032	D	0.01	-7.6047	19.2744	0.94026	0.0:0.0:1.0:0.0	.	749;749;739	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	L	739;749	ENSP00000313885:R739L;ENSP00000364397:R749L	ENSP00000313885:R739L	R	+	2	0	KIAA0195	71001401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.564000	0.86499	0.561000	0.74099	CGA		PASS	0.607	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		4	103	4	103	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78337588	78337588	+	Silent	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr17:78337588C>G	ENST00000582970.1	+	41	11891	c.11748C>G	c.(11746-11748)gtC>gtG	p.V3916V	RNF213_ENST00000508628.2_Silent_p.V3965V|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.V1989V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3916					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V1989V(1)|p.V3965V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAGGGAAGTCAGGTGAGACC	0.607																																						uc002jyh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(5965-5967)GTC>GTG		ring finger protein 213							34.0	28.0	30.0					17																	78337588		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78337588C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11748C>G	17.37:g.78337588C>G						uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.V371V	p.V1989V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		16	6190	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.5967C>G	CCDS58606.1																																																																																				PASS	0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		3	9	3	9	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8783855	8783855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr18:8783855G>T	ENST00000306329.11	+	5	1825	c.1825G>T	c.(1825-1827)Gag>Tag	p.E609*	SOGA2_ENST00000359865.3_Nonsense_Mutation_p.E249*|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Nonsense_Mutation_p.E249*|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.E249*														p.E249*(1)									GCAGGAGCGGGAGGGCCCGGG	0.647																																						uc002knr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(745-747)GAG>TAG		hypothetical protein LOC23255							38.0	39.0	39.0					18																	8783855		2203	4300	6503	SO:0001587	stop_gained	23255							g.chr18:8783855G>T																												ENST00000306329.11:c.1825G>T	18.37:g.8783855G>T	ENSP00000305027:p.Glu609*					KIAA0802_uc002knq.2_Nonsense_Mutation_p.E249*|KIAA0802_uc010dkw.1_Nonsense_Mutation_p.E87*	p.E249*	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	887	+			600			Potential.			Nonsense_Mutation	SNP	ENST00000306329.11	37	c.745G>T		.	.	.	.	.	.	.	.	.	.	G	41	9.038013	0.99044	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	.	.	.	5.55	5.55	0.83447	.	0.000000	0.36519	N	0.002545	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-23.6163	19.4968	0.95077	0.0:0.0:1.0:0.0	.	.	.	.	X	270;249;249;249	.	ENSP00000305027:E270X	E	+	1	0	CCDC165	8773855	1.000000	0.71417	0.874000	0.34290	0.392000	0.30506	9.723000	0.98772	2.626000	0.88956	0.555000	0.69702	GAG		PASS	0.647	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			6	31	6	31	---	---	---	---
MC5R	4161	broad.mit.edu	37	18	13826055	13826055	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr18:13826055C>T	ENST00000324750.3	+	1	513	c.291C>T	c.(289-291)taC>taT	p.Y97Y	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	97					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.Y97Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCACCATCTACCTACTCAACA	0.522																																						uc010xaf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(1)	6						c.(289-291)TAC>TAT		melanocortin 5 receptor							155.0	130.0	138.0					18																	13826055		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826055C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.291C>T	18.37:g.13826055C>T							p.Y97Y	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	291	+			97			Helical; Name=2; (Potential).		B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.291C>T	CCDS11868.1																																																																																				PASS	0.522	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		4	27	4	27	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21758027	21758027	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr18:21758027C>T	ENST00000319481.3	-	21	2249	c.2043G>A	c.(2041-2043)ggG>ggA	p.G681G	OSBPL1A_ENST00000357041.4_Silent_p.G299G|OSBPL1A_ENST00000399443.3_Silent_p.G168G	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	681					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.G681G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTACACTCTTCCCCCAGAATT	0.443																																						uc002kve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2041-2043)GGG>GGA		oxysterol-binding protein-like 1A isoform B							141.0	126.0	131.0					18																	21758027		2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21758027C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2043G>A	18.37:g.21758027C>T						OSBPL1A_uc002kvd.2_Silent_p.G168G|OSBPL1A_uc010xbc.1_Silent_p.G299G	p.G681G	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			21	2217	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		681					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.2043G>A	CCDS11884.1																																																																																				PASS	0.443	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		8	42	8	42	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31324435	31324435	+	Silent	SNP	T	T	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr18:31324435T>C	ENST00000269197.5	+	12	4623	c.4623T>C	c.(4621-4623)gcT>gcC	p.A1541A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1541					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1541A(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTTCATTGCTGCTTCGGCAG	0.507											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dmg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4621-4623)GCT>GCC		additional sex combs like 3							34.0	36.0	35.0					18																	31324435		2067	4208	6275	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324435T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4623T>C	18.37:g.31324435T>C			OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Silent_p.A1248A	p.A1541A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4678	+			1541					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.4623T>C	CCDS45847.1																																																																																				PASS	0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			3	12	3	12	---	---	---	---
RPRD1A	55197	broad.mit.edu	37	18	33613794	33613794	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr18:33613794G>A	ENST00000399022.4	-	2	329	c.158C>T	c.(157-159)cCa>cTa	p.P53L	RPRD1A_ENST00000588737.1_Missense_Mutation_p.P17L|RPRD1A_ENST00000590898.1_Missense_Mutation_p.P17L|RPRD1A_ENST00000337059.5_Missense_Mutation_p.P17L|RPRD1A_ENST00000357384.4_Missense_Mutation_p.P53L|RPRD1A_ENST00000319040.6_Missense_Mutation_p.P53L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	53	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.P53L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CTTCCTGTTTGGTTTGGCTGA	0.333																																						uc002kzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(157-159)CCA>CTA		regulation of nuclear pre-mRNA domain containing							86.0	85.0	85.0					18																	33613794		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33613794G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.158C>T	18.37:g.33613794G>A	ENSP00000381984:p.Pro53Leu					RPRD1A_uc002kze.1_Missense_Mutation_p.P17L|RPRD1A_uc002kzg.2_Missense_Mutation_p.P53L|RPRD1A_uc010dmw.2_Missense_Mutation_p.P17L|RPRD1A_uc010dmx.2_Missense_Mutation_p.P53L	p.P53L	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN			2	164	-			53			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.158C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952258	0.53293	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.98	4.98	0.66077	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.110409	0.64402	D	0.000006	T	0.47619	0.1455	L	0.54323	1.7	0.58432	D	0.999999	B;B;P	0.38565	0.321;0.399;0.637	B;B;B	0.37650	0.138;0.176;0.255	T	0.40850	-0.9541	10	0.12766	T	0.61	-8.1395	16.1206	0.81351	0.0:0.0:1.0:0.0	.	53;53;17	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	L	53;53;17;53	ENSP00000381984:P53L;ENSP00000349955:P53L;ENSP00000337476:P17L;ENSP00000314602:P53L	ENSP00000314602:P53L	P	-	2	0	RPRD1A	31867792	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.705000	0.68355	2.470000	0.83445	0.591000	0.81541	CCA		PASS	0.333	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		8	27	8	27	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43446904	43446904	+	Silent	SNP	C	C	A	rs142224776	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr18:43446904C>A	ENST00000282041.5	-	38	6514	c.6480G>T	c.(6478-6480)tcG>tcT	p.S2160S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2160					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.S2160S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CACTCTGGTACGACACAATAT	0.398																																						uc002lbm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(6478-6480)TCG>TCT		hypothetical protein LOC57724							110.0	110.0	110.0					18																	43446904		1944	4139	6083	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43446904C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6480G>T	18.37:g.43446904C>A						KIAA1632_uc010xcq.1_Silent_p.S714S|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.S1035S	p.S2160S	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			38	6580	-			2160					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.6480G>T	CCDS11926.2																																																																																				PASS	0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		34	18	34	18	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65181344	65181345	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr18:65181344_65181345CC>AG	ENST00000310045.7	-	2	2004_2005	c.531_532GG>CT	c.(529-534)gaGGtt>gaCTtt	p.177_178EV>DF	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	167					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.V178F(1)|p.E177_V178>DF(1)|p.E177D(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCAATTGGAACCTCATCTCCTG	0.381																																						uc002lke.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(532-534)GTT>TTT|c.(529-531)GAG>GAC		dermatan sulfate epimerase-like																																				SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181344C>A|g.chr18:65181345C>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.531_532delinsAG	18.37:g.65181344_65181345delinsAG	ENSP00000310565:p.E177_V178delinsDF						p.V178F|p.E177D	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	1756|1755	-		Esophageal squamous(42;0.129)	168|167					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.532G>T|c.531G>C	CCDS11995.1																																																																																				PASS	0.381	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		26|27	14	26	14	---	---	---	---
MADCAM1	8174	broad.mit.edu	37	19	498595	498595	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:498595C>T	ENST00000215637.3	+	3	483	c.437C>T	c.(436-438)gCg>gTg	p.A146V	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000382683.4_Missense_Mutation_p.A51V|MADCAM1_ENST00000346144.4_Missense_Mutation_p.A146V	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	146	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)	p.A146V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GACCCCAACGCGCTCTCCTTC	0.716																																						uc002los.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GCG>GTG		mucosal vascular addressin cell adhesion							21.0	23.0	22.0					19																	498595		2199	4298	6497	SO:0001583	missense	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:498595C>T	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.437C>T	19.37:g.498595C>T	ENSP00000215637:p.Ala146Val					MADCAM1_uc002lot.2_Missense_Mutation_p.A146V|MADCAM1_uc010drq.2_Missense_Mutation_p.A51V	p.A146V	NM_130760	NP_570116	Q13477	MADCA_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)	3	447	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	146			Extracellular (Potential).|Ig-like 2.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	c.437C>T	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	C	1.819	-0.472784	0.04445	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637;ENST00000346144;ENST00000382683	T;T	0.14516	2.89;2.5	3.5	-0.101	0.13618	Adhesion molecule, immunoglobulin-like (2);Immunoglobulin-like fold (1);	1.830450	0.03548	N	0.224942	T	0.06142	0.0159	N	0.12182	0.205	0.09310	N	1	B;P;B	0.34934	0.104;0.476;0.361	B;B;B	0.20577	0.02;0.016;0.03	T	0.24512	-1.0158	10	0.29301	T	0.29	-5.2332	3.5379	0.07800	0.0:0.5108:0.2269:0.2623	.	51;146;146	Q5UGI7;B2RPL9;Q13477	.;.;MADCA_HUMAN	V	146;146;146;146;146;51	ENSP00000215637:A146V;ENSP00000304247:A146V	ENSP00000215637:A146V	A	+	2	0	MADCAM1	449595	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.553000	0.06012	-0.013000	0.14199	0.561000	0.74099	GCG		PASS	0.716	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		11	2	11	2	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2217007	2217007	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:2217007G>C	ENST00000398665.3	+	21	2498	c.2462G>C	c.(2461-2463)gGc>gCc	p.G821A	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	821					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.G821A(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		AGCGTGCCTGGCAGCATGAAG	0.657																																						uc002lvb.3																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2461-2463)GGC>GCC		DOT1-like, histone H3 methyltransferase							37.0	40.0	39.0					19																	2217007		2075	4198	6273	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2217007G>C	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2462G>C	19.37:g.2217007G>C	ENSP00000381657:p.Gly821Ala					DOT1L_uc002lvc.1_Missense_Mutation_p.G115A|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.G115A	p.G821A	NM_032482	NP_115871	Q8TEK3	DOT1L_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	2498	+		Hepatocellular(1079;0.137)	821					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2462G>C	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.827|6.827	0.521825|0.521825	0.13005|0.13005	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482	.|T	.|0.21361	.|2.01	5.45|5.45	-2.33|-2.33	0.06724|0.06724	.|.	.|0.803473	.|0.11788	.|N	.|0.529560	T|T	0.13286|0.13286	0.0322|0.0322	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16802	.|0.009;0.019	.|B;B	.|0.20577	.|0.002;0.03	T|T	0.22034|0.22034	-1.0228|-1.0228	5|10	.|0.87932	.|D	.|0	-3.5036|-3.5036	9.0413|9.0413	0.36319|0.36319	0.8101:0.0934:0.0965:0.0|0.8101:0.0934:0.0965:0.0	.|.	.|821;821	.|Q8TEK3;Q8TEK3-2	.|DOT1L_HUMAN;.	P|A	608|821	.|ENSP00000381657:G821A	.|ENSP00000221482:G821A	A|G	+|+	1|2	0|0	DOT1L|DOT1L	2168007|2168007	0.059000|0.059000	0.20769|0.20769	0.000000|0.000000	0.03702|0.03702	0.044000|0.044000	0.14063|0.14063	0.404000|0.404000	0.20999|0.20999	-1.004000|-1.004000	0.03421|0.03421	-0.140000|-0.140000	0.14226|0.14226	GCA|GGC		PASS	0.657	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		8	21	8	21	---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2877439	2877439	+	Silent	SNP	C	C	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:2877439C>G	ENST00000307635.2	+	4	570	c.483C>G	c.(481-483)tcC>tcG	p.S161S	ZNF556_ENST00000586426.1_Silent_p.S160S	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S161S(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ATTCCTCATCCCTGATAAGGC	0.433																																						uc002lwp.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(481-483)TCC>TCG		zinc finger protein 556							123.0	115.0	118.0					19																	2877439		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877439C>G	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.483C>G	19.37:g.2877439C>G						ZNF556_uc002lwq.2_Silent_p.S160S	p.S161S	NM_024967	NP_079243	Q9HAH1	ZN556_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)	4	570	+			161			C2H2-type 1.		Q96GM3	Silent	SNP	ENST00000307635.2	37	c.483C>G	CCDS12097.1																																																																																				PASS	0.433	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		33	47	33	47	---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2877512	2877512	+	Missense_Mutation	SNP	C	C	T	rs374705626		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:2877512C>T	ENST00000307635.2	+	4	643	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	ZNF556_ENST00000586426.1_Missense_Mutation_p.R185C	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R186C(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AGCCTTCAGTCGCCCTTCCTA	0.453																																						uc002lwp.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(556-558)CGC>TGC		zinc finger protein 556		C	CYS/ARG	0,4406		0,0,2203	82.0	88.0	86.0		556	-2.4	0.0	19		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF556	NM_024967.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	186/457	2877512	1,13005	2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877512C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.556C>T	19.37:g.2877512C>T	ENSP00000302603:p.Arg186Cys					ZNF556_uc002lwq.2_Missense_Mutation_p.R185C	p.R186C	NM_024967	NP_079243	Q9HAH1	ZN556_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)	4	643	+			186			C2H2-type 2.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.556C>T	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288999	0.23478	0.0	1.16E-4	ENSG00000172000	ENST00000307635	T	0.07567	3.18	2.27	-2.38	0.06622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	L	0.53729	1.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38650	-0.9651	9	0.26408	T	0.33	.	7.3936	0.26923	0.0:0.4965:0.0:0.5035	.	186	Q9HAH1	ZN556_HUMAN	C	186	ENSP00000302603:R186C	ENSP00000302603:R186C	R	+	1	0	ZNF556	2828512	0.000000	0.05858	0.016000	0.15963	0.139000	0.21198	-2.734000	0.00803	-0.460000	0.07003	-0.480000	0.04831	CGC		PASS	0.453	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		45	38	45	38	---	---	---	---
UBXN6	80700	broad.mit.edu	37	19	4447574	4447574	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:4447574C>T	ENST00000301281.6	-	6	712	c.588G>A	c.(586-588)aaG>aaA	p.K196K	UBXN6_ENST00000394765.3_Silent_p.K143K|MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	196	PUB.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.K196K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCAGCTTGATCTTCCGGTACT	0.677																																						uc002man.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(586-588)AAG>AAA		UBX domain protein 6							226.0	185.0	199.0					19																	4447574		2203	4300	6503	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4447574C>T	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.588G>A	19.37:g.4447574C>T						UBXN6_uc010dty.1_Silent_p.K100K|UBXN6_uc002mam.1_Silent_p.K143K	p.K196K	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN			6	684	-			196			PUB.		D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.588G>A	CCDS12129.1																																																																																				PASS	0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		18	61	18	61	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538248	4538248	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:4538248T>A	ENST00000306390.6	-	2	1208	c.748A>T	c.(748-750)Agg>Tgg	p.R250W	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	250					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R250W(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCACCCTGGCCAGCTTG	0.607																																						uc002mau.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(748-750)AGG>TGG		leucine-rich alpha-2-glycoprotein 1 precursor							125.0	139.0	134.0					19																	4538248		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538248T>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.748A>T	19.37:g.4538248T>A	ENSP00000302621:p.Arg250Trp					PLIN5_uc002mat.1_Intron	p.R250W	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	759	-		Hepatocellular(1079;0.137)	250			LRR 7.		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.748A>T	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.202665	0.58234	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.58506	0.33	5.24	-10.5	0.00291	.	2.124880	0.02186	N	0.060902	T	0.61426	0.2346	M	0.64630	1.985	0.09310	N	1	D	0.57899	0.981	P	0.56127	0.792	T	0.71889	-0.4456	10	0.62326	D	0.03	0.2064	6.973	0.24658	0.2013:0.5515:0.1022:0.1451	.	250	P02750	A2GL_HUMAN	W	250;233	ENSP00000302621:R250W	ENSP00000302621:R250W	R	-	1	2	LRG1	4489248	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.871000	0.01640	-3.001000	0.00276	-1.219000	0.01604	AGG		PASS	0.607	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		77	38	77	38	---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7605533	7605533	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:7605533G>T	ENST00000221249.6	+	9	1046	c.615G>T	c.(613-615)gtG>gtT	p.V205V	PNPLA6_ENST00000450331.3_Silent_p.V205V|PNPLA6_ENST00000600737.1_Silent_p.V244V|PNPLA6_ENST00000545201.2_Silent_p.V205V|PNPLA6_ENST00000414982.3_Silent_p.V253V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	244					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.V205V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGAGTGTGTGGTGAAGGAAG	0.602																																						uc010xjq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(757-759)GTG>GTT		neuropathy target esterase isoform b							249.0	178.0	202.0					19																	7605533		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7605533G>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.615G>T	19.37:g.7605533G>T						PNPLA6_uc002mgq.1_Silent_p.V205V|PNPLA6_uc010xjp.1_Silent_p.V205V|PNPLA6_uc002mgr.1_Silent_p.V205V|PNPLA6_uc002mgs.2_Silent_p.V244V	p.V253V	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			8	954	+			244			cNMP 1.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.759G>T	CCDS32891.1																																																																																				PASS	0.602	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		5	66	5	66	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9090237	9090237	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:9090237C>T	ENST00000397910.4	-	1	1781	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	526	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q526Q(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTAAATTGCTGAGCTGTGC	0.542																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1576-1578)CAG>CAA		mucin 16							94.0	92.0	93.0					19																	9090237		2107	4240	6347	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090237C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1578G>A	19.37:g.9090237C>T							p.Q526Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1782	-			526			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1578G>A	CCDS54212.1																																																																																				PASS	0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		38	41	38	41	---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12739314	12739314	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:12739314G>T	ENST00000343325.4	+	4	1133	c.971G>T	c.(970-972)gGa>gTa	p.G324V	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.G215V|ZNF791_ENST00000458122.3_Missense_Mutation_p.G292V|ZNF791_ENST00000446165.1_3'UTR|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G324V(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATTCATACTGGAGAGAAGCCC	0.408																																						uc002mua.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(970-972)GGA>GTA		zinc finger protein 791							44.0	49.0	48.0					19																	12739314		2202	4300	6502	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739314G>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.971G>T	19.37:g.12739314G>T	ENSP00000342974:p.Gly324Val					ZNF791_uc010xml.1_Missense_Mutation_p.G292V|ZNF791_uc010dyu.1_Missense_Mutation_p.G215V|ZNF791_uc010xmm.1_Missense_Mutation_p.G215V	p.G324V	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	1133	+			324					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.971G>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.674972	0.47781	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.23552	1.9;1.9;1.9	1.83	1.83	0.25207	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44623	0.1302	M	0.66439	2.03	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.42241	-0.9463	9	0.87932	D	0	.	9.2247	0.37398	0.0:0.0:1.0:0.0	.	324	Q3KP31	ZN791_HUMAN	V	324;306;292;215	ENSP00000342974:G324V;ENSP00000441761:G292V;ENSP00000441038:G215V	ENSP00000342974:G324V	G	+	2	0	ZNF791	12600314	0.998000	0.40836	0.999000	0.59377	0.983000	0.72400	2.670000	0.46833	1.007000	0.39238	0.491000	0.48974	GGA		PASS	0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		5	57	5	57	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17091325	17091325	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:17091325T>A	ENST00000443236.1	-	14	1739	c.1708A>T	c.(1708-1710)Aca>Tca	p.T570S	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	523						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T570S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAAAGGTGTGTTAAACGAATC	0.587																																						uc002nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(1708-1710)ACA>TCA		C3 and PZP-like, alpha-2-macroglobulin domain							54.0	59.0	57.0					19																	17091325		1980	4142	6122	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17091325T>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1708A>T	19.37:g.17091325T>A	ENSP00000402505:p.Thr570Ser						p.T570S	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			14	1740	-			523					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1708A>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.08|15.08	2.727309|2.727309	0.48833|0.48833	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.9|2.9	2.9|2.9	0.33743|0.33743	Alpha-2-macroglobulin, N-terminal 2 (1);|.	0.440276|.	0.19288|.	U|.	0.117993|.	T|.	0.56217|.	0.1970|.	L|L	0.48362|0.48362	1.52|1.52	0.54753|0.54753	D|D	0.99998|0.99998	P|.	0.34837|.	0.472|.	B|.	0.37780|.	0.258|.	T|.	0.51076|.	-0.8751|.	9|.	0.27785|.	T|.	0.31|.	.|.	9.5419|9.5419	0.39257|0.39257	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	523|.	Q8IZJ3|.	CPMD8_HUMAN|.	S|Y	570|580	.|.	ENSP00000291440:T570S|.	T|X	-|-	1|3	0|2	CPAMD8|CPAMD8	16952325|16952325	1.000000|1.000000	0.71417|0.71417	0.404000|0.404000	0.26397|0.26397	0.753000|0.753000	0.42808|0.42808	3.380000|3.380000	0.52448|0.52448	0.978000|0.978000	0.38470|0.38470	0.383000|0.383000	0.25322|0.25322	ACA|TAA		PASS	0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		9	25	9	25	---	---	---	---
FKBP8	23770	broad.mit.edu	37	19	18649073	18649073	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:18649073G>A	ENST00000596558.2	-	5	831	c.722C>T	c.(721-723)gCc>gTc	p.A241V	FKBP8_ENST00000453489.2_Missense_Mutation_p.A270V|FKBP8_ENST00000610101.1_Intron|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000597960.3_Missense_Mutation_p.A242V|FKBP8_ENST00000608443.1_Missense_Mutation_p.A242V|FKBP8_ENST00000222308.4_Missense_Mutation_p.A241V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	241					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A242V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GTAGGAGTTGGCGGCCAGGAC	0.662																																						uc002njk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)GCC>GTC		FK506-binding protein 8							62.0	56.0	58.0					19																	18649073		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649073G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.722C>T	19.37:g.18649073G>A	ENSP00000472302:p.Ala241Val					FKBP8_uc002nji.1_Missense_Mutation_p.A79V|FKBP8_uc010xqi.1_Missense_Mutation_p.A270V|FKBP8_uc002njj.1_Missense_Mutation_p.A242V|FKBP8_uc002njl.1_Missense_Mutation_p.A242V|FKBP8_uc002njm.1_Missense_Mutation_p.A241V|FKBP8_uc010ebr.1_Missense_Mutation_p.A80V|FKBP8_uc002njn.2_RNA	p.A241V	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			5	835	-			241			TPR 1.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.722C>T		.	.	.	.	.	.	.	.	.	.	G	4.127	0.021840	0.08006	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.72942	-0.7;-0.7	3.79	3.79	0.43588	Elongated TPR repeat-containing domain (1);	0.194532	0.44285	D	0.000476	T	0.45975	0.1369	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.23735	0.01;0.004;0.09;0.022	B;B;B;B	0.16289	0.003;0.007;0.015;0.01	T	0.36696	-0.9737	10	0.21540	T	0.41	-15.4564	5.2411	0.15471	0.2413:0.0:0.7587:0.0	.	270;185;241;242	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	V	242;270	ENSP00000222308:A242V;ENSP00000388891:A270V	ENSP00000222308:A242V	A	-	2	0	FKBP8	18510073	1.000000	0.71417	0.997000	0.53966	0.173000	0.22820	4.678000	0.61641	1.959000	0.56917	0.561000	0.74099	GCC		PASS	0.662	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		7	41	7	41	---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21131712	21131712	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:21131712G>T	ENST00000328178.8	+	4	505	c.392G>T	c.(391-393)tGt>tTt	p.C131F	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000601023.1_Missense_Mutation_p.C72F|ZNF85_ENST00000345030.6_Missense_Mutation_p.C98F	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	131					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.C131F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAGGAGGTTGTAATGGACTT	0.328																																						uc002npg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(391-393)TGT>TTT		zinc finger protein 85							66.0	68.0	68.0					19																	21131712		2203	4300	6503	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131712G>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.392G>T	19.37:g.21131712G>T	ENSP00000329793:p.Cys131Phe					ZNF85_uc010ecn.2_Missense_Mutation_p.C66F|ZNF85_uc010eco.2_Missense_Mutation_p.C79F|ZNF85_uc002npi.2_Missense_Mutation_p.C72F	p.C131F	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	519	+			131					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.392G>T	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	2.203	-0.382634	0.04966	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.05786	3.53;3.39	1.23	-0.101	0.13618	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15930	0.0;0.015;0.002	B;B;B	0.08055	0.002;0.003;0.003	T	0.45425	-0.9262	9	0.30078	T	0.28	.	2.4029	0.04406	0.3698:0.0:0.3872:0.243	.	98;72;131	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	F	131;98;6	ENSP00000329793:C131F;ENSP00000342340:C98F	ENSP00000329793:C131F	C	+	2	0	ZNF85	20923552	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.162000	0.03141	-1.000000	0.03438	-0.556000	0.04195	TGT		PASS	0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		4	71	4	71	---	---	---	---
ZNF714	148206	broad.mit.edu	37	19	21300186	21300186	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:21300186A>G	ENST00000596143.1	+	5	1041	c.716A>G	c.(715-717)cAt>cGt	p.H239R	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H239R(1)|p.H344R(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GCCTTCTACCATTCTTCACAC	0.413																																						uc002npo.3																			2	Substitution - Missense(2)		lung(2)		0						c.(718-720)CAT>CGT		zinc finger protein 714							38.0	40.0	39.0					19																	21300186		2179	4295	6474	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300186A>G	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.716A>G	19.37:g.21300186A>G	ENSP00000472368:p.His239Arg					ZNF714_uc002npl.2_Missense_Mutation_p.H85R|ZNF714_uc010ecp.1_Missense_Mutation_p.H191R|ZNF714_uc002npn.2_RNA	p.H240R	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			6	1079	+			240			C2H2-type 5.		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.719A>G	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.473460	0.01044	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.02	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	N	0.01438	-0.865	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.08055	0.0;0.003;0.002	T	0.37314	-0.9711	8	0.08599	T	0.76	.	4.1585	0.10272	0.7691:0.0:0.2309:0.0	.	240;239;240	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	R	239	.	ENSP00000291770:H239R	H	+	2	0	ZNF714	21092026	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.374000	0.07484	0.383000	0.24910	0.374000	0.22700	CAT		PASS	0.413	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		26	16	26	16	---	---	---	---
ZNF599	148103	broad.mit.edu	37	19	35250747	35250747	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:35250747A>G	ENST00000329285.8	-	4	1332	c.959T>C	c.(958-960)tTt>tCt	p.F320S		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F320S(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCTGTAGTAAAAAGCTTTCCC	0.433																																						uc010edn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(958-960)TTT>TCT		zinc finger protein 599							74.0	78.0	77.0					19																	35250747		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250747A>G	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.959T>C	19.37:g.35250747A>G	ENSP00000333802:p.Phe320Ser					ZNF599_uc010edm.1_Missense_Mutation_p.F283S	p.F320S	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1347	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		320			C2H2-type 5.		Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.959T>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297714	0.60086	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.41758	0.99	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67998	0.2953	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73148	-0.4074	9	0.87932	D	0	.	8.9739	0.35924	1.0:0.0:0.0:0.0	.	320	Q96NL3	ZN599_HUMAN	S	319;320	ENSP00000333802:F320S	ENSP00000333802:F320S	F	-	2	0	ZNF599	39942587	1.000000	0.71417	0.954000	0.39281	0.962000	0.63368	4.993000	0.63895	1.433000	0.47394	0.402000	0.26972	TTT		PASS	0.433	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		3	69	3	69	---	---	---	---
HKR1	284459	broad.mit.edu	37	19	37854631	37854631	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:37854631G>C	ENST00000324411.4	+	6	2203	c.1934G>C	c.(1933-1935)aGt>aCt	p.S645T	HKR1_ENST00000591471.1_Missense_Mutation_p.S372T|HKR1_ENST00000544914.1_Missense_Mutation_p.S372T|HKR1_ENST00000589392.1_Missense_Mutation_p.S627T|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.S626T|HKR1_ENST00000541583.2_Missense_Mutation_p.S584T	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	645					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S645T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGGGGCTTTAGTCGGAAGTCC	0.473																																						uc002ogb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1933-1935)AGT>ACT		GLI-Kruppel family member HKR1							56.0	56.0	56.0					19																	37854631		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854631G>C	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1934G>C	19.37:g.37854631G>C	ENSP00000315505:p.Ser645Thr					HKR1_uc002ofx.2_Missense_Mutation_p.S361T|HKR1_uc002ofy.2_Missense_Mutation_p.S361T|HKR1_uc002oga.2_Missense_Mutation_p.S627T|HKR1_uc010xto.1_Missense_Mutation_p.S627T|HKR1_uc002ogc.2_Missense_Mutation_p.S626T|HKR1_uc010xtp.1_Missense_Mutation_p.S584T|HKR1_uc002ogd.2_Missense_Mutation_p.S584T	p.S645T	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2203	+			645			C2H2-type 13.		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.1934G>C	CCDS12502.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.400|6.400	0.441884|0.441884	0.12164|0.12164	.|.	.|.	ENSG00000181666|ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000324411;ENST00000541583|ENST00000542144	T;T;T;T|.	0.53640|.	0.61;0.61;0.61;0.61|.	3.15|3.15	0.812|0.812	0.18744|0.18744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.26557|0.26557	0.0649|0.0649	N|N	0.20483|0.20483	0.58|0.58	0.09310|0.09310	N|N	0.999997|0.999997	B;B;B;B|.	0.28324|.	0.207;0.105;0.058;0.0|.	B;B;B;B|.	0.25291|.	0.046;0.032;0.059;0.001|.	T|T	0.23619|0.23619	-1.0183|-1.0183	9|6	0.08837|0.10902	T|T	0.75|0.67	.|.	11.5477|11.5477	0.50702|0.50702	0.0:0.3489:0.6511:0.0|0.0:0.3489:0.6511:0.0	.|.	584;626;645;627|.	Q7Z6E1;P10072-2;P10072;B4DSY3|.	.;.;HKR1_HUMAN;.|.	T|L	372;424;626;645;584|680	ENSP00000437774:S372T;ENSP00000375994:S626T;ENSP00000315505:S645T;ENSP00000438261:S584T|.	ENSP00000315505:S645T|ENSP00000440633:V680L	S|V	+|+	2|1	0|0	HKR1|HKR1	42546471|42546471	0.000000|0.000000	0.05858|0.05858	0.406000|0.406000	0.26421|0.26421	0.870000|0.870000	0.49936|0.49936	-3.211000|-3.211000	0.00556|0.00556	0.156000|0.156000	0.19299|0.19299	-0.182000|-0.182000	0.12963|0.12963	AGT|GTC		PASS	0.473	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		4	49	4	49	---	---	---	---
CEACAM21	90273	broad.mit.edu	37	19	42085944	42085944	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:42085944C>A	ENST00000401445.2	+	3	689	c.663C>A	c.(661-663)agC>agA	p.S221R	CEACAM21_ENST00000407170.2_Missense_Mutation_p.S93R|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S221R|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	221	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.S221R(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ACCCAGTCAGCTCCAACAGGA	0.547																																						uc002ore.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(661-663)AGC>AGA		carcinoembryonic antigen-related cell adhesion							23.0	22.0	22.0					19																	42085944		1989	4171	6160	SO:0001583	missense	90273					integral to membrane		g.chr19:42085944C>A	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.663C>A	19.37:g.42085944C>A	ENSP00000385739:p.Ser221Arg					CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.S221R	p.S221R	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			3	759	+			221			Ig-like C2-type.|Extracellular (Potential).		B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.663C>A	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543258	0.45280	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	T;T;T	0.55588	0.51;0.51;0.51	3.56	-2.06	0.07298	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69735	0.3144	M	0.85197	2.74	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.986;0.988	T	0.60414	-0.7268	9	0.87932	D	0	.	8.1895	0.31359	0.0:0.5137:0.0:0.4863	.	221;221	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	R	93;221;221	ENSP00000384380:S93R;ENSP00000187608:S221R;ENSP00000385739:S221R	ENSP00000187608:S221R	S	+	3	2	CEACAM21	46777784	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.522000	0.06237	-0.321000	0.08627	0.385000	0.25706	AGC		PASS	0.547	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		6	8	6	8	---	---	---	---
PSG11	5680	broad.mit.edu	37	19	43529139	43529139	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:43529139A>T	ENST00000401740.1	-	2	237	c.134T>A	c.(133-135)gTg>gAg	p.V45E	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.V45E|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	45	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.V45E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCCCTCGGACACTTTGGGTGG	0.468																																						uc002ovh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(151-153)GTG>GAG		SubName: Full=Putative uncharacterized protein PSG6;							201.0	205.0	203.0					19																	43529139		2201	4295	6496	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43529139A>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.134T>A	19.37:g.43529139A>T	ENSP00000384995:p.Val45Glu					PSG11_uc002ouw.2_Missense_Mutation_p.V51E|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.V51E|PSG11_uc002ovm.1_Missense_Mutation_p.V45E|PSG11_uc002ovn.1_Missense_Mutation_p.V51E|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron	p.V51E			Q00889	PSG6_HUMAN			2	241	-		Prostate(69;0.00899)	45			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.152T>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	a	10.34	1.323410	0.24080	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.71698	-0.59;-0.59	0.929	-1.47	0.08772	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81786	0.4896	M	0.90252	3.1	0.09310	N	1	D	0.58620	0.983	D	0.66716	0.946	T	0.69548	-0.5116	9	0.87932	D	0	.	3.6813	0.08312	0.5553:0.0:0.4447:0.0	.	45	Q9UQ72	PSG11_HUMAN	E	45	ENSP00000319140:V45E;ENSP00000384995:V45E	ENSP00000319140:V45E	V	-	2	0	PSG11	48220979	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.003000	0.12901	-0.484000	0.06763	0.155000	0.16302	GTG		PASS	0.468	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		80	117	80	117	---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44740694	44740694	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:44740694G>T	ENST00000313040.7	+	6	2316	c.2111G>T	c.(2110-2112)cGc>cTc	p.R704L	ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.R653L|ZNF227_ENST00000391961.2_Missense_Mutation_p.R653L	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R704L(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TTGAATCTTCGCCATCATCAG	0.483																																						uc002oyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2110-2112)CGC>CTC		zinc finger protein 227							97.0	99.0	98.0					19																	44740694		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740694G>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2111G>T	19.37:g.44740694G>T	ENSP00000321049:p.Arg704Leu					ZNF227_uc010xwu.1_Missense_Mutation_p.R653L|ZNF227_uc002oyv.2_Missense_Mutation_p.R704L|ZNF227_uc010xwv.1_Missense_Mutation_p.R653L|ZNF227_uc010xww.1_Missense_Mutation_p.R625L|ZNF227_uc002oyw.2_Missense_Mutation_p.R676L|ZNF227_uc010ejh.2_Missense_Mutation_p.R697L|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	p.R704L	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	2316	+		Prostate(69;0.0435)	704			C2H2-type 16.		B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.2111G>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013334	0.07912	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.34667	1.35;1.35	3.55	-0.179	0.13299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28665	0.0710	N	0.17345	0.48	0.09310	N	1	P;D;P;P	0.76494	0.924;0.999;0.931;0.924	B;D;B;B	0.67548	0.427;0.952;0.403;0.427	T	0.26224	-1.0109	9	0.08599	T	0.76	.	1.118	0.01718	0.2142:0.3267:0.292:0.1672	.	625;683;656;704	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	L	704;661;653;683;343	ENSP00000321049:R704L;ENSP00000375823:R653L	ENSP00000321049:R704L	R	+	2	0	ZNF227	49432534	0.000000	0.05858	0.921000	0.36526	0.994000	0.84299	-0.642000	0.05427	0.304000	0.22809	0.563000	0.77884	CGC		PASS	0.483	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		4	82	4	82	---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45211185	45211185	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:45211185C>A	ENST00000405314.2	+	5	1090	c.993C>A	c.(991-993)ggC>ggA	p.G331G	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Silent_p.G331G			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	331					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)		p.G396G(2)		endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAACGGAGGGCCAGGACGTAA	0.662																																						uc010xxd.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(991-993)GGC>GGA		carcinoembryonic antigen-related cell adhesion							16.0	18.0	17.0					19																	45211185		2157	4245	6402	SO:0001819	synonymous_variant	388551							g.chr19:45211185C>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.993C>A	19.37:g.45211185C>A						CEACAM16_uc002ozq.2_Silent_p.G390G	p.G331G	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN			6	1199	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	331					A7LI12	Silent	SNP	ENST00000405314.2	37	c.993C>A	CCDS54278.1																																																																																				PASS	0.662	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		3	11	3	11	---	---	---	---
FOSB	2354	broad.mit.edu	37	19	45975850	45975850	+	Silent	SNP	G	G	T	rs561978912		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:45975850G>T	ENST00000353609.3	+	4	1189	c.597G>T	c.(595-597)tcG>tcT	p.S199S	FOSB_ENST00000417353.2_Silent_p.S163S|FOSB_ENST00000443841.2_Silent_p.S56S|FOSB_ENST00000586615.1_Silent_p.S150S|FOSB_ENST00000585836.1_Silent_p.S124S|FOSB_ENST00000591858.1_Silent_p.S160S|FOSB_ENST00000592436.1_Silent_p.S199S|FOSB_ENST00000592811.1_Silent_p.S150S|ERCC1_ENST00000423698.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	199	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S199S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGCTGGAGTCGGAGATCGCCG	0.577																																						uc002pbx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(595-597)TCG>TCT		FBJ murine osteosarcoma viral oncogene homolog B							31.0	37.0	35.0					19																	45975850		2203	4300	6503	SO:0001819	synonymous_variant	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45975850G>T		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.597G>T	19.37:g.45975850G>T						ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.S124S|FOSB_uc002pby.3_Silent_p.S163S|FOSB_uc010eka.1_Silent_p.S160S|FOSB_uc010ekb.1_Silent_p.S199S|FOSB_uc010ekc.1_Silent_p.S56S|FOSB_uc010ekf.2_Silent_p.S160S|FOSB_uc010ekd.1_Silent_p.S163S|FOSB_uc010ekg.2_Silent_p.S56S|FOSB_uc002pca.3_Silent_p.S150S	p.S199S	NM_006732	NP_006723	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	4	1189	+		Ovarian(192;0.051)|all_neural(266;0.112)	199			Leucine-zipper.		A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Silent	SNP	ENST00000353609.3	37	c.597G>T	CCDS12664.1																																																																																				PASS	0.577	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		13	16	13	16	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48624466	48624466	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:48624466G>T	ENST00000263274.7	-	24	2765	c.2346C>A	c.(2344-2346)tcC>tcA	p.S782S	LIG1_ENST00000536218.1_Silent_p.S714S|CTC-453G23.5_ENST00000596839.1_RNA|CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000427526.2_Silent_p.S751S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	782					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.S782S(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCTCGTCGTAGGAGGCCAGCA	0.662								Nucleotide excision repair (NER)																														uc002pia.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(2344-2346)TCC>TCA	NER	DNA ligase I	Bleomycin(DB00290)						64.0	73.0	70.0					19																	48624466		2203	4300	6503	SO:0001819	synonymous_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48624466G>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2346C>A	19.37:g.48624466G>T						LIG1_uc010xze.1_Silent_p.S475S|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.S714S|LIG1_uc010xzg.1_Silent_p.S751S	p.S782S	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	24	2466	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	782					B2RAI8|Q2TB12|Q32P23	Silent	SNP	ENST00000263274.7	37	c.2346C>A	CCDS12711.1																																																																																				PASS	0.662	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		6	67	6	67	---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49901368	49901368	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:49901368G>T	ENST00000447857.3	+	7	802	c.597G>T	c.(595-597)gaG>gaT	p.E199D		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	199						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E199D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCCTTGGGGAGGAGATCTTGG	0.647																																						uc002pnm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(595-597)GAG>GAT		coiled-coil domain containing 155							46.0	51.0	49.0					19																	49901368		2100	4212	6312	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49901368G>T		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.597G>T	19.37:g.49901368G>T	ENSP00000404220:p.Glu199Asp					CCDC155_uc002pnl.1_Missense_Mutation_p.E199D|CCDC155_uc010emx.1_Missense_Mutation_p.E172D	p.E199D	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			7	771	+			199			Potential.		Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.597G>T	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900143	0.52227	.	.	ENSG00000161609	ENST00000447857	T	0.37915	1.17	5.19	3.0	0.34707	.	0.169764	0.37955	N	0.001872	T	0.47395	0.1443	M	0.76574	2.34	0.26058	N	0.981389	P;P;D	0.60160	0.663;0.663;0.987	B;B;P	0.56042	0.343;0.343;0.79	T	0.34129	-0.9841	10	0.37606	T	0.19	-10.2778	7.3105	0.26471	0.0929:0.1699:0.7372:0.0	.	199;199;279	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	D	199	ENSP00000404220:E199D	ENSP00000404220:E199D	E	+	3	2	CCDC155	54593180	1.000000	0.71417	0.981000	0.43875	0.892000	0.51952	1.559000	0.36320	0.668000	0.31126	0.549000	0.68633	GAG		PASS	0.647	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		4	22	4	22	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50099409	50099409	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:50099409G>T	ENST00000418929.2	+	4	1829	c.1817G>T	c.(1816-1818)gGc>gTc	p.G606V		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.G606V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCGGGAGCTGGCAGCTATGCA	0.682																																						uc002poo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1816-1818)GGC>GTC		proline rich 12							24.0	30.0	28.0					19																	50099409		1991	4166	6157	SO:0001583	missense	57479						DNA binding	g.chr19:50099409G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1817G>T	19.37:g.50099409G>T	ENSP00000394510:p.Gly606Val						p.G606V	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1817	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1817G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	5.631	0.301068	0.10678	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	T	0.44477	0.1295	.	.	.	0.36062	D	0.841528	B	0.17038	0.02	B	0.15484	0.013	T	0.52873	-0.8517	7	0.54805	T	0.06	.	7.15	0.25606	0.0:0.1859:0.6227:0.1914	.	606	Q9ULL5-3	.	V	606	.	ENSP00000394510:G606V	G	+	2	0	PRR12	54791221	0.855000	0.29742	0.998000	0.56505	0.666000	0.39218	1.289000	0.33307	2.209000	0.71365	0.305000	0.20034	GGC		PASS	0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		12	14	12	14	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192460	51192460	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:51192460C>A	ENST00000293441.1	-	15	2059	c.2041G>T	c.(2041-2043)Gcc>Tcc	p.A681S	SHANK1_ENST00000359082.3_Missense_Mutation_p.A672S|SHANK1_ENST00000391813.1_Missense_Mutation_p.A68S|SHANK1_ENST00000391814.1_Missense_Mutation_p.A681S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCACCCTTGGCCCCCCGGAGC	0.607																																						uc002psx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(2041-2043)GCC>TCC		SH3 and multiple ankyrin repeat domains 1							129.0	109.0	116.0					19																	51192460		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192460C>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2041G>T	19.37:g.51192460C>A	ENSP00000293441:p.Ala681Ser					SHANK1_uc002psw.1_Missense_Mutation_p.A65S	p.A681S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	15	2060	-		all_neural(266;0.057)	681			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2041G>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575614	0.45902	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	3.48	2.41	0.29592	PDZ/DHR/GLGF (4);	0.000000	0.64402	U	0.000003	T	0.33847	0.0877	L	0.31752	0.955	0.43399	D	0.995525	D;D	0.67145	0.983;0.996	D;D	0.76575	0.923;0.988	T	0.12426	-1.0548	10	0.87932	D	0	-12.8384	9.3465	0.38111	0.0:0.8858:0.0:0.1142	.	681;68	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	S	681;68;672;681	ENSP00000293441:A681S;ENSP00000375689:A68S;ENSP00000351984:A672S;ENSP00000375690:A681S	ENSP00000293441:A681S	A	-	1	0	SHANK1	55884272	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.243000	0.58721	1.651000	0.50673	0.289000	0.19496	GCC		PASS	0.607	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	70	5	70	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53085781	53085781	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:53085781G>A	ENST00000540331.1	+	5	892	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.E157K|ZNF701_ENST00000301093.2_Missense_Mutation_p.E223K	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E157K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTTCACCCCGAAGGGAAAAT	0.413																																					NSCLC(89;451 1475 9611 20673 52284)	uc002pzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GAA>AAA		zinc finger protein 701							83.0	83.0	83.0					19																	53085781		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085781G>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.667G>A	19.37:g.53085781G>A	ENSP00000444339:p.Glu223Lys					ZNF701_uc010ydn.1_Missense_Mutation_p.E223K	p.E157K	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	596	+			157					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.469G>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	5.326	0.245488	0.10077	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05319	3.46;3.51;3.51	1.81	0.708	0.18144	.	.	.	.	.	T	0.04048	0.0113	L	0.38953	1.18	0.09310	N	1	B;B	0.28082	0.2;0.052	B;B	0.27500	0.08;0.005	T	0.45234	-0.9275	9	0.08599	T	0.76	.	3.0424	0.06142	0.1935:0.2909:0.5156:0.0	.	223;157	F5GZM6;Q9NV72	.;ZN701_HUMAN	K	157;223;223	ENSP00000375662:E157K;ENSP00000301093:E223K;ENSP00000444339:E223K	ENSP00000301093:E223K	E	+	1	0	ZNF701	57777593	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.041000	0.13927	0.100000	0.17581	0.306000	0.20318	GAA		PASS	0.413	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		32	91	32	91	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54687471	54687471	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:54687471C>T	ENST00000245615.1	-	5	906	c.426G>A	c.(424-426)ctG>ctA	p.L142L	MBOAT7_ENST00000391754.1_Silent_p.L142L|MBOAT7_ENST00000431666.2_Silent_p.L69L|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Silent_p.L69L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	142					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)	p.L142L(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTCGGGCAGCAGCCCCAGGG	0.627																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)CTG>CTA		membrane bound O-acyltransferase domain							95.0	79.0	85.0					19																	54687471		2203	4300	6503	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54687471C>T	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.426G>A	19.37:g.54687471C>T						MBOAT7_uc010erg.2_5'UTR|MBOAT7_uc010yem.1_Silent_p.L124L|MBOAT7_uc002qdr.2_Silent_p.L142L|MBOAT7_uc002qds.2_Silent_p.L69L|MBOAT7_uc010yen.1_Silent_p.L69L|MBOAT7_uc002qdt.3_Silent_p.L142L	p.L142L	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			6	692	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		142					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.426G>A	CCDS12883.1																																																																																				PASS	0.627	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		17	27	17	27	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55711656	55711656	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:55711656C>A	ENST00000376350.3	-	7	1390	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	PTPRH_ENST00000263434.5_Missense_Mutation_p.W278C|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	456	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.W456C(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTTTTTCTGCCCATACAGAGA	0.517																																						uc002qjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1366-1368)TGG>TGT		protein tyrosine phosphatase, receptor type, H							156.0	132.0	140.0					19																	55711656		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711656C>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1368G>T	19.37:g.55711656C>A	ENSP00000365528:p.Trp456Cys					PTPRH_uc010esv.2_Missense_Mutation_p.W278C|PTPRH_uc002qjs.2_Missense_Mutation_p.W463C	p.W456C	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1441	-		Renal(1328;0.245)	456			Extracellular (Potential).|Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1368G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	9.564	1.119328	0.20877	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.56611	0.45;0.45	3.87	-0.00142	0.14034	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.887686	0.09185	N	0.836956	T	0.60612	0.2282	L	0.56769	1.78	0.21719	N	0.999572	D;D;D	0.76494	0.999;0.998;0.99	D;D;D	0.71870	0.975;0.936;0.932	T	0.47235	-0.9133	10	0.39692	T	0.17	.	2.9504	0.05860	0.1799:0.5377:0.1753:0.1072	.	278;278;456	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	C	456;278	ENSP00000365528:W456C;ENSP00000263434:W278C	ENSP00000263434:W278C	W	-	3	0	PTPRH	60403468	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	0.193000	0.17116	0.004000	0.14682	0.549000	0.68633	TGG		PASS	0.517	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			18	16	18	16	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175601	57175601	+	Silent	SNP	G	G	A	rs200020270		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:57175601G>A	ENST00000537055.2	-	2	1197	c.966C>T	c.(964-966)gcC>gcT	p.A322A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A344A(1)|p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCGGTGCTCGGCCAGAGAGG	0.701																																						uc010ygo.1																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.G334fs*26(1)	lung(1)|pancreas(1)	pancreas(3)|skin(1)	4						c.(1030-1032)GCC>GCT		zinc finger protein 835							17.0	18.0	17.0					19																	57175601		2199	4294	6493	SO:0001819	synonymous_variant	90485							g.chr19:57175601G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.966C>T	19.37:g.57175601G>A						ZNF835_uc010ygn.1_Silent_p.A322A	p.A344A	NM_001005850	NP_001005850					2	1032	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1032C>T	CCDS56105.1																																																																																				PASS	0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		11	18	11	18	---	---	---	---
ZNF586	54807	broad.mit.edu	37	19	58290273	58290273	+	Silent	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:58290273C>T	ENST00000396154.2	+	3	491	c.318C>T	c.(316-318)ccC>ccT	p.P106P	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.P64L|ZNF586_ENST00000391702.3_Silent_p.P63P|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P106P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACTGAACCCAGAAGAGATC	0.413																																						uc002qqd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(316-318)CCC>CCT		zinc finger protein 586							74.0	73.0	73.0					19																	58290273		2033	4239	6272	SO:0001819	synonymous_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290273C>T	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.318C>T	19.37:g.58290273C>T						ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.P64L|ZNF586_uc010euh.2_Silent_p.P63P|ZNF586_uc002qqf.1_Intron	p.P106P	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	504	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	106			C2H2-type 1; degenerate.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Silent	SNP	ENST00000396154.2	37	c.318C>T	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	C	1.895	-0.454635	0.04540	.	.	ENSG00000083828	ENST00000396150	T	0.30182	1.54	1.76	-1.23	0.09465	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.23940	-1.0174	8	0.27785	T	0.31	.	5.6925	0.17837	0.0:0.2619:0.0:0.7381	.	64	A0JLV8	.	L	64	ENSP00000379454:P64L	ENSP00000379454:P64L	P	+	2	0	ZNF586	62982085	0.085000	0.21516	0.003000	0.11579	0.048000	0.14542	0.021000	0.13489	-0.629000	0.05575	-0.251000	0.11542	CCA		PASS	0.413	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		14	70	14	70	---	---	---	---
ZNF446	55663	broad.mit.edu	37	19	58991863	58991863	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:58991863C>T	ENST00000594369.1	+	7	1504	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	ZNF446_ENST00000335841.4_3'UTR|ZNF446_ENST00000596341.1_Missense_Mutation_p.P324S	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	375					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P375S(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGAGAAGCCACCACAAGGGGA	0.647																																						uc002qsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1123-1125)CCA>TCA		zinc finger protein 446							27.0	29.0	28.0					19																	58991863		2202	4300	6502	SO:0001583	missense	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991863C>T		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1123C>T	19.37:g.58991863C>T	ENSP00000472802:p.Pro375Ser					ZNF446_uc002qta.2_3'UTR|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	p.P375S	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	7	1240	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	375						Missense_Mutation	SNP	ENST00000594369.1	37	c.1123C>T	CCDS12982.1	.	.	.	.	.	.	.	.	.	.	C	6.445	0.450181	0.12223	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	3.73	1.03	0.20045	.	1.097320	0.07235	N	0.863181	T	0.16385	0.0394	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23726	-1.0180	9	0.02654	T	1	-1.856	7.1438	0.25570	0.0:0.7075:0.0:0.2925	.	375	Q9NWS9	ZN446_HUMAN	S	375;375;272	.	ENSP00000336565:P375S	P	+	1	0	ZNF446	63683675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.058000	0.11750	0.308000	0.22923	-0.263000	0.10527	CCA		PASS	0.647	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		7	7	7	7	---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2778860	2778860	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr20:2778860C>A	ENST00000380605.2	-	4	592	c.528G>T	c.(526-528)gtG>gtT	p.V176V		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	176	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.V176V(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCCCAGCGTCCACCTGAAACC	0.592																																						uc002wgu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(526-528)GTG>GTT		carboxypeptidase X, member 1 precursor							73.0	73.0	73.0					20																	2778860		2203	4300	6503	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2778860C>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.528G>T	20.37:g.2778860C>A						CPXM1_uc010gas.2_Silent_p.V176V	p.V176V	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			4	592	-			176			F5/8 type C.		Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.528G>T	CCDS13033.1																																																																																				PASS	0.592	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		5	46	5	46	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8769342	8769342	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr20:8769342A>T	ENST00000338037.6	+	29	3278	c.3251A>T	c.(3250-3252)aAa>aTa	p.K1084I	PLCB1_ENST00000378637.2_Missense_Mutation_p.K1084I|PLCB1_ENST00000378641.3_Missense_Mutation_p.K1084I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1084					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.K1084I(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGAAGCTAAATCCAAAGAC	0.363																																						uc002wnb.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(3250-3252)AAA>ATA		phosphoinositide-specific phospholipase C beta 1							75.0	71.0	72.0					20																	8769342		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8769342A>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3251A>T	20.37:g.8769342A>T	ENSP00000338185:p.Lys1084Ile					PLCB1_uc002wna.2_Missense_Mutation_p.K1084I	p.K1084I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			29	3254	+			1084					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3251A>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256080	0.80246	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.48201	0.82;0.82;0.82	5.28	5.28	0.74379	PLC-beta, C-terminal (1);	0.117593	0.56097	D	0.000033	T	0.59238	0.2179	L	0.59436	1.845	0.54753	D	0.999987	P;P	0.48589	0.912;0.908	P;P	0.55011	0.734;0.766	T	0.61302	-0.7090	10	0.54805	T	0.06	.	14.6933	0.69101	1.0:0.0:0.0:0.0	.	1084;1084	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	I	1084;1084;1084;1004;1004	ENSP00000367908:K1084I;ENSP00000338185:K1084I;ENSP00000367904:K1084I	ENSP00000338185:K1084I	K	+	2	0	PLCB1	8717342	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.664000	0.91139	2.133000	0.65898	0.460000	0.39030	AAA		PASS	0.363	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			10	28	10	28	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20079402	20079402	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr20:20079402C>A	ENST00000245957.5	+	8	879	c.803C>A	c.(802-804)cCa>cAa	p.P268Q	C20orf26_ENST00000451767.2_Missense_Mutation_p.P268Q|C20orf26_ENST00000377306.1_Missense_Mutation_p.P268Q|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		268								p.P268Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCTGTTTCCCACATCCTGAT	0.488																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(802-804)CCA>CAA		hypothetical protein LOC26074							174.0	141.0	152.0					20																	20079402		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20079402C>A																												ENST00000245957.5:c.803C>A	20.37:g.20079402C>A	ENSP00000245957:p.Pro268Gln					C20orf26_uc010gcw.1_Missense_Mutation_p.P222Q|C20orf26_uc010zse.1_Missense_Mutation_p.P268Q|C20orf26_uc010zsf.1_Missense_Mutation_p.P268Q	p.P268Q	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	8	879	+			268					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.803C>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195573	0.78902	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000442372;ENST00000377297	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.61	5.61	0.85477	.	0.188556	0.37393	N	0.002116	T	0.58666	0.2138	L	0.55834	1.745	0.80722	D	1	D;P;D;D	0.89917	1.0;0.798;0.999;1.0	D;B;D;D	0.91635	0.999;0.269;0.983;0.999	T	0.58923	-0.7550	10	0.72032	D	0.01	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	268;268;222;268	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	Q	222;268;268;268;268;268;27;60	ENSP00000345553:P222Q;ENSP00000245957:P268Q;ENSP00000366521:P268Q;ENSP00000414537:P268Q;ENSP00000397311:P27Q	ENSP00000245957:P268Q	P	+	2	0	C20orf26	20027402	0.998000	0.40836	0.283000	0.24790	0.699000	0.40488	5.578000	0.67450	2.639000	0.89480	0.655000	0.94253	CCA		PASS	0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			16	41	16	41	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687473	21687473	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr20:21687473G>T	ENST00000398485.2	+	2	738	c.684G>T	c.(682-684)ctG>ctT	p.L228L	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.L204L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	228					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L228L(1)|p.L134L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCGGCAGCCTGGCGCAGCCCG	0.642																																						uc002wsj.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(682-684)CTG>CTT		paired box 1							40.0	47.0	45.0					20																	21687473		2202	4298	6500	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687473G>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.684G>T	20.37:g.21687473G>T						PAX1_uc010zsl.1_Silent_p.L228L|PAX1_uc010zsm.1_Silent_p.L204L	p.L228L	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	738	+			228					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.684G>T	CCDS13146.2																																																																																				PASS	0.642	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			26	10	26	10	---	---	---	---
MAPRE1	22919	broad.mit.edu	37	20	31421598	31421598	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr20:31421598A>C	ENST00000375571.5	+	3	336	c.197A>C	c.(196-198)aAg>aCg	p.K66T		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	66	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.K66T(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TTCCAAGCTAAGCTAGAACAC	0.398																																						uc002wyh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)AAG>ACG		microtubule-associated protein, RP/EB family,							147.0	132.0	137.0					20																	31421598		2203	4300	6503	SO:0001583	missense	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31421598A>C	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.197A>C	20.37:g.31421598A>C	ENSP00000364721:p.Lys66Thr						p.K66T	NM_012325	NP_036457	Q15691	MARE1_HUMAN			3	336	+			66			CH.		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.197A>C	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785946	0.70337	.	.	ENSG00000101367	ENST00000375571	D	0.94828	-3.53	4.62	4.62	0.57501	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	M	0.79258	2.445	0.80722	D	1	B	0.20887	0.049	B	0.23419	0.046	D	0.92397	0.5926	10	0.54805	T	0.06	-17.0485	13.5333	0.61633	1.0:0.0:0.0:0.0	.	66	Q15691	MARE1_HUMAN	T	66	ENSP00000364721:K66T	ENSP00000364721:K66T	K	+	2	0	MAPRE1	30885259	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.109000	0.94291	1.849000	0.53698	0.533000	0.62120	AAG		PASS	0.398	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		51	62	51	62	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44663663	44663663	+	Silent	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr20:44663663G>A	ENST00000454036.2	+	2	247	c.198G>A	c.(196-198)aaG>aaA	p.K66K	SLC12A5_ENST00000372315.1_Silent_p.K43K|SLC12A5_ENST00000243964.3_Silent_p.K43K|SLC12A5_ENST00000608944.1_5'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	66					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.K43K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGATGGCAAGAACATGGCCT	0.547																																						uc010zxl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(196-198)AAG>AAA		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						267.0	178.0	208.0					20																	44663663		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44663663G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.198G>A	20.37:g.44663663G>A						SLC12A5_uc002xra.2_Silent_p.K43K|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.K43K	p.K66K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			2	274	+		Myeloproliferative disorder(115;0.0122)	66			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.198G>A	CCDS46610.1																																																																																				PASS	0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			43	74	43	74	---	---	---	---
PTPN1	5770	broad.mit.edu	37	20	49177930	49177930	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr20:49177930T>G	ENST00000371621.3	+	2	268	c.94T>G	c.(94-96)Tgt>Ggt	p.C32G	Y_RNA_ENST00000364631.1_RNA|PTPN1_ENST00000541713.1_Intron	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	32	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)	p.C32G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	TGACTTCCCATGTAGAGTGGC	0.453																																						uc002xvl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)TGT>GGT		protein tyrosine phosphatase, non-receptor type	Clodronate(DB00720)|Tiludronate(DB01133)						122.0	102.0	109.0					20																	49177930		2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49177930T>G		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.94T>G	20.37:g.49177930T>G	ENSP00000360683:p.Cys32Gly					PTPN1_uc010zys.1_Intron	p.C32G	NM_002827	NP_002818	P18031	PTN1_HUMAN			2	268	+		Lung NSC(126;0.163)	32			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.94T>G	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.679081	0.68042	.	.	ENSG00000196396	ENST00000371621	T	0.03386	3.95	5.02	5.02	0.67125	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000003	T	0.10337	0.0253	M	0.72479	2.2	0.80722	D	1	P	0.52316	0.952	P	0.51516	0.672	T	0.16512	-1.0400	10	0.27785	T	0.31	.	13.8559	0.63527	0.0:0.0:0.0:1.0	.	32	P18031	PTN1_HUMAN	G	32	ENSP00000360683:C32G	ENSP00000360683:C32G	C	+	1	0	PTPN1	48611337	1.000000	0.71417	0.913000	0.36048	0.997000	0.91878	7.458000	0.80787	2.103000	0.63969	0.528000	0.53228	TGT		PASS	0.453	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			6	57	6	57	---	---	---	---
KRTAP13-1	140258	broad.mit.edu	37	21	31768868	31768868	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr21:31768868G>A	ENST00000355459.2	+	1	477	c.464G>A	c.(463-465)aGg>aAg	p.R155K		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	155						intermediate filament (GO:0005882)		p.R155K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGCTTCTAGGAGCTGCCAG	0.502																																						uc002yoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)AGG>AAG		keratin associated protein 13-1							48.0	46.0	47.0					21																	31768868		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768868G>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.464G>A	21.37:g.31768868G>A	ENSP00000347635:p.Arg155Lys						p.R155K	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	477	+			155					Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.464G>A	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145092	0.57044	.	.	ENSG00000198390	ENST00000355459	T	0.02890	4.12	4.54	1.68	0.24146	.	0.140255	0.32386	N	0.006174	T	0.03783	0.0107	M	0.66939	2.045	0.09310	N	1	B	0.33022	0.394	B	0.37304	0.246	T	0.35968	-0.9767	10	0.21014	T	0.42	.	3.7309	0.08492	0.1806:0.0:0.4812:0.3382	.	155	Q8IUC0	KR131_HUMAN	K	155	ENSP00000347635:R155K	ENSP00000347635:R155K	R	+	2	0	KRTAP13-1	30690739	0.013000	0.17824	0.000000	0.03702	0.585000	0.36419	1.766000	0.38491	0.377000	0.24735	0.650000	0.86243	AGG		PASS	0.502	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			16	15	16	15	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37333986	37333986	+	Silent	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr22:37333986C>A	ENST00000403662.3	+	14	2358	c.2136C>A	c.(2134-2136)gtC>gtA	p.V712V	CSF2RB_ENST00000406230.1_Silent_p.V718V|CSF2RB_ENST00000536485.1_Silent_p.V659V|CSF2RB_ENST00000262825.5_Silent_p.V718V			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	712					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.V712V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTGGTTATGTCTCCTCTGCAG	0.597																																						uc003aqa.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|pancreas(1)	3						c.(2134-2136)GTC>GTA		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						74.0	84.0	80.0					22																	37333986		2203	4300	6503	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333986C>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2136C>A	22.37:g.37333986C>A						CSF2RB_uc003aqc.3_Silent_p.V718V	p.V712V	NM_000395	NP_000386	P32927	IL3RB_HUMAN			14	2353	+			712			Cytoplasmic (Potential).		Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.2136C>A	CCDS13936.1																																																																																				PASS	0.597	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		17	19	17	19	---	---	---	---
JOSD1	9929	broad.mit.edu	37	22	39085044	39085044	+	Silent	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr22:39085044G>C	ENST00000216039.5	-	3	1084	c.405C>G	c.(403-405)ctC>ctG	p.L135L		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	135	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)	p.L135L(1)		large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					GCTGCCTTTTGAGGGGCAGTT	0.572																																						uc003awf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)CTC>CTG		Josephin domain containing 1							96.0	79.0	85.0					22																	39085044		2203	4300	6503	SO:0001819	synonymous_variant	9929						peptidase activity	g.chr22:39085044G>C		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.405C>G	22.37:g.39085044G>C							p.L135L	NM_014876	NP_055691	Q15040	JOS1_HUMAN			3	872	-	Melanoma(58;0.04)		135			Josephin.		A8K712	Silent	SNP	ENST00000216039.5	37	c.405C>G	CCDS13976.1	.	.	.	.	.	.	.	.	.	.	G	9.194	1.026672	0.19512	.	.	ENSG00000100221	ENST00000545590	.	.	.	5.76	4.74	0.60224	.	.	.	.	.	T	0.64170	0.2574	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62882	-0.6760	4	.	.	.	.	12.5656	0.56308	0.0:0.1268:0.7413:0.1319	.	.	.	.	E	87	.	.	Q	-	1	0	JOSD1	37414990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.334000	0.33827	1.424000	0.47217	0.655000	0.94253	CAA		PASS	0.572	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		27	33	27	33	---	---	---	---
PARVB	29780	broad.mit.edu	37	22	44532354	44532354	+	Silent	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr22:44532354G>T	ENST00000338758.7	+	7	711	c.648G>T	c.(646-648)ctG>ctT	p.L216L	PARVB_ENST00000404989.1_Silent_p.L179L|PARVB_ENST00000406477.3_Silent_p.L249L	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	216					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.L249L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGGAAGGCCTGCTGCATTCCA	0.562																																						uc003ben.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)CTG>CTT		parvin, beta isoform b							91.0	77.0	82.0					22																	44532354		2203	4300	6503	SO:0001819	synonymous_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44532354G>T	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.648G>T	22.37:g.44532354G>T						PARVB_uc003bem.2_Silent_p.L249L|PARVB_uc010gzn.2_Silent_p.L164L|PARVB_uc003beo.2_Silent_p.L179L	p.L216L	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN			7	700	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	216					B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	37	c.648G>T	CCDS14056.1																																																																																				PASS	0.562	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		17	20	17	20	---	---	---	---
SUPT20HL1	100130302	broad.mit.edu	37	X	24382817	24382817	+	IGR	SNP	A	A	G	rs373393584		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:24382817A>G								AC004552.1 (15794 upstream) : PDK3 (100520 downstream)														p.D652G(2)									AGTGGCAGTGACCTTCAGTCC	0.612																																						uc011mjx.1																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(1939-1941)GAC>GGC		hypothetical protein LOC100130302							41.0	38.0	39.0					X																	24382817		1568	3582	5150	SO:0001628	intergenic_variant	100130302							g.chrX:24382817A>G																													X.37:g.24382817A>G							p.D647G	NM_001136234	NP_001129706					1	1940	+									Missense_Mutation	SNP		37	c.1940A>G																																																																																				0	PASS	0.612									10	5	10	5	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24753605	24753605	+	Splice_Site	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:24753605G>T	ENST00000379059.3	+	18	1920	c.1905G>T	c.(1903-1905)gtG>gtT	p.V635V	POLA1_ENST00000379068.3_Splice_Site_p.V641V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	635					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.V635V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ATATCATTGTGGTGAGTAGAT	0.368																																						uc004dbl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1903-1905)GTG>GTT		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						129.0	115.0	120.0					X																	24753605		2203	4300	6503	SO:0001630	splice_region_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24753605G>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1905+1G>T	X.37:g.24753605G>T							p.V635V	NM_016937	NP_058633	P09884	DPOLA_HUMAN			18	1928	+			635					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.1905G>T	CCDS14214.1																																																																																				PASS	0.368	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	Silent	5	43	5	43	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26213027	26213027	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:26213027A>G	ENST00000379034.1	+	2	1213	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	355	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y355C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCTCCATGCTATGAGTTCCTG	0.498																																						uc004dbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1063-1065)TAT>TGT		melanoma antigen family B, 6							64.0	62.0	63.0					X																	26213027		2202	4297	6499	SO:0001583	missense	158809							g.chrX:26213027A>G	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1064A>G	X.37:g.26213027A>G	ENSP00000368320:p.Tyr355Cys					MAGEB6_uc010ngc.1_Missense_Mutation_p.Y135C	p.Y355C	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1213	+			355			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1064A>G	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.967433	0.34754	.	.	ENSG00000176746	ENST00000379034	T	0.05382	3.45	3.29	2.09	0.27110	.	0.151251	0.45361	U	0.000364	T	0.23492	0.0568	M	0.89414	3.03	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04767	-1.0928	10	0.72032	D	0.01	.	5.0397	0.14452	0.7314:0.0:0.0:0.2686	.	355	Q8N7X4	MAGB6_HUMAN	C	355	ENSP00000368320:Y355C	ENSP00000368320:Y355C	Y	+	2	0	MAGEB6	26122948	0.000000	0.05858	0.003000	0.11579	0.195000	0.23768	0.725000	0.25970	0.468000	0.27243	0.481000	0.45027	TAT		PASS	0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		28	5	28	5	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39934379	39934379	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:39934379G>T	ENST00000378444.4	-	4	448	c.220C>A	c.(220-222)Cgc>Agc	p.R74S	BCOR_ENST00000342274.4_Missense_Mutation_p.R74S|BCOR_ENST00000397354.3_Missense_Mutation_p.R74S|BCOR_ENST00000378455.4_Missense_Mutation_p.R74S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	74					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R74S(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGCCAGTGCGGTCCATGCTC	0.582			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(220-222)CGC>AGC		BCL-6 interacting corepressor isoform c							29.0	22.0	24.0					X																	39934379		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934379G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.220C>A	X.37:g.39934379G>T	ENSP00000367705:p.Arg74Ser					BCOR_uc004dep.3_Missense_Mutation_p.R74S|BCOR_uc004deo.3_Missense_Mutation_p.R74S|BCOR_uc004dem.3_Missense_Mutation_p.R74S|BCOR_uc004deq.3_Missense_Mutation_p.R74S	p.R74S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	512	-			74					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.220C>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	g	16.19	3.054336	0.55218	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.08	4.13	0.48395	.	.	.	.	.	T	0.72439	0.3460	L	0.32530	0.975	0.44214	D	0.997042	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.994;0.997	T	0.74225	-0.3734	9	0.52906	T	0.07	-19.8797	13.5537	0.61747	0.0:0.0:0.7808:0.2192	.	74;74;74;74	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	S	74	ENSP00000367716:R74S;ENSP00000380512:R74S;ENSP00000367705:R74S;ENSP00000345923:R74S;ENSP00000384485:R74S	ENSP00000345923:R74S	R	-	1	0	BCOR	39819323	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.913000	0.56394	2.107000	0.64212	0.525000	0.51046	CGC		PASS	0.582	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	9	4	9	---	---	---	---
UBA1	7317	broad.mit.edu	37	X	47070573	47070573	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:47070573G>C	ENST00000335972.6	+	20	2596	c.2413G>C	c.(2413-2415)Gtc>Ctc	p.V805L	UBA1_ENST00000377269.3_Missense_Mutation_p.V253L|UBA1_ENST00000377351.4_Missense_Mutation_p.V805L	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	805					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.V805L(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAAGTCTGGCGTCAAGATCCA	0.607																																						uc004dhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2413-2415)GTC>CTC		ubiquitin-activating enzyme E1							115.0	83.0	94.0					X																	47070573		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47070573G>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2413G>C	X.37:g.47070573G>C	ENSP00000338413:p.Val805Leu					UBA1_uc004dhk.3_Missense_Mutation_p.V805L|UBA1_uc004dhm.2_Missense_Mutation_p.V253L	p.V805L	NM_153280	NP_695012	P22314	UBA1_HUMAN			20	2564	+			805					Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.2413G>C	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995903	0.54147	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.47528	0.84;0.84;0.84	4.66	4.66	0.58398	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.79805	2.47	0.58432	D	0.999997	P;P	0.51537	0.946;0.493	P;P	0.47941	0.562;0.543	T	0.64351	-0.6428	10	0.44086	T	0.13	-21.2911	15.6561	0.77136	0.0:0.0:1.0:0.0	.	253;805	Q5JRR6;P22314	.;UBA1_HUMAN	L	805;805;253	ENSP00000366568:V805L;ENSP00000338413:V805L;ENSP00000366481:V253L	ENSP00000338413:V805L	V	+	1	0	UBA1	46955517	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	3.841000	0.55850	2.296000	0.77279	0.529000	0.55759	GTC		PASS	0.607	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		4	39	4	39	---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51638459	51638459	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:51638459C>A	ENST00000375722.1	+	3	608	c.356C>A	c.(355-357)cCa>cAa	p.P119Q	MAGED1_ENST00000375772.3_Missense_Mutation_p.P119Q|MAGED1_ENST00000375695.2_Missense_Mutation_p.P175Q|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.P119Q			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	119				P -> S (in Ref. 1; AAG09704). {ECO:0000305}.	apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.P175Q(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AATGCTACCCCAAAGGGTCCA	0.502										Multiple Myeloma(10;0.10)																												uc004dpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(355-357)CCA>CAA		melanoma antigen family D, 1 isoform b							35.0	33.0	34.0					X																	51638459		2203	4299	6502	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51638459C>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.356C>A	X.37:g.51638459C>A	ENSP00000364874:p.Pro119Gln	Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Missense_Mutation_p.P175Q|MAGED1_uc004dpo.2_Missense_Mutation_p.P119Q|MAGED1_uc011mnx.1_Intron	p.P119Q	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			3	451	+	Ovarian(276;0.236)		119	P -> S (in Ref. 1; AAG09704).				Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.356C>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	4.054	0.007665	0.07866	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	3.65	0.913	0.19354	.	0.837868	0.10020	N	0.726102	T	0.44850	0.1313	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.998;0.996	P;P	0.59703	0.862;0.731	T	0.29427	-1.0012	10	0.38643	T	0.18	.	5.7291	0.18030	0.0:0.6332:0.0:0.3668	.	175;119	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	Q	119;119;119;175	ENSP00000364927:P119Q;ENSP00000364874:P119Q;ENSP00000325333:P119Q;ENSP00000364847:P175Q	ENSP00000325333:P119Q	P	+	2	0	MAGED1	51655199	0.198000	0.23374	0.018000	0.16275	0.762000	0.43233	0.311000	0.19380	0.069000	0.16605	-0.362000	0.07510	CCA		PASS	0.502	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		3	6	3	6	---	---	---	---
NKRF	55922	broad.mit.edu	37	X	118724197	118724197	+	Silent	SNP	A	A	G			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:118724197A>G	ENST00000371527.1	-	2	1843	c.1191T>C	c.(1189-1191)agT>agC	p.S397S	NKRF_ENST00000304449.5_Silent_p.S397S|NKRF_ENST00000542113.1_Silent_p.S412S|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	397					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S397S(1)|p.S412S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CTGCATGTTTACTTGTTTTCT	0.413																																						uc004erq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1189-1191)AGT>AGC		transcription factor NRF							123.0	112.0	116.0					X																	118724197		2203	4300	6503	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724197A>G	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1191T>C	X.37:g.118724197A>G						NKRF_uc004err.2_Silent_p.S397S	p.S397S	NM_017544	NP_060014	O15226	NKRF_HUMAN			2	1844	-			397					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1191T>C	CCDS35375.1																																																																																				PASS	0.413	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		71	10	71	10	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038229	139038229	+	Missense_Mutation	SNP	C	C	A	rs186251954		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:139038229C>A	ENST00000370540.1	-	3	935	c.912G>T	c.(910-912)aaG>aaT	p.K304N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	304						integral component of membrane (GO:0016021)		p.K304N(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGGAAGAGGACTTGACTTTGC	0.378													C|||	1	0.000264901	0.0	0.0	3775	,	,		16230	0.0		0.001	False		,,,				2504	0.0					uc004fbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)AAG>AAT		hypothetical protein LOC347487 precursor							212.0	182.0	192.0					X																	139038229		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038229C>A		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.912G>T	X.37:g.139038229C>A	ENSP00000359571:p.Lys304Asn						p.K304N	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	934	-			304			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.912G>T	CCDS35411.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.51	1.659303	0.29515	.	.	ENSG00000203933	ENST00000370540	T	0.67698	-0.28	3.85	-4.89	0.03103	.	0.889844	0.09325	N	0.817667	T	0.45074	0.1324	L	0.34521	1.04	0.09310	N	1	B	0.31790	0.34	B	0.32864	0.154	T	0.30238	-0.9985	9	.	.	.	0.2095	1.6799	0.02830	0.1311:0.1658:0.2572:0.446	.	304	Q5JRM2	CX066_HUMAN	N	304	ENSP00000359571:K304N	.	K	-	3	2	CXorf66	138865895	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.919000	0.04017	-1.583000	0.01638	-0.245000	0.11935	AAG		PASS	0.378	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		15	35	15	35	---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967551	142967551	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:142967551A>C	ENST00000370494.1	+	1	379	c.349A>C	c.(349-351)Aat>Cat	p.N117H		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	117						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.N117H(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCTCCCAATCCAGATGA	0.453																																						uc004fca.2																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)AAT>CAT		ubiquitin-conjugating enzyme E2N-like							135.0	114.0	121.0					X																	142967551		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967551A>C			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.349A>C	X.37:g.142967551A>C	ENSP00000359525:p.Asn117His						p.N117H	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	379	+	Acute lymphoblastic leukemia(192;6.56e-05)		117					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.349A>C	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532452	0.27387	.	.	ENSG00000102069	ENST00000370494	T	0.75589	-0.95	1.16	1.16	0.20824	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.33364	U	0.004983	D	0.89938	0.6860	H	0.99626	4.665	0.80722	D	1	D	0.57899	0.981	D	0.66979	0.948	D	0.87553	0.2466	10	0.87932	D	0	-5.7054	6.204	0.20591	1.0:0.0:0.0:0.0	.	117	Q5JXB2	UE2NL_HUMAN	H	117	ENSP00000359525:N117H	ENSP00000359525:N117H	N	+	1	0	UBE2NL	142795217	1.000000	0.71417	0.974000	0.42286	0.166000	0.22503	5.919000	0.70005	0.738000	0.32606	0.151000	0.16131	AAT		PASS	0.453	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		30	39	30	39	---	---	---	---
GDI1	2664	broad.mit.edu	37	X	153667172	153667172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:153667172G>A	ENST00000447750.2	+	3	550	c.215G>A	c.(214-216)tGg>tAg	p.W72*		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	72					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.W72*(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCGAGACTGGAATGTTGAC	0.572																																						uc004fli.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(214-216)TGG>TAG		GDP dissociation inhibitor 1							181.0	187.0	185.0					X																	153667172		2203	4300	6503	SO:0001587	stop_gained	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153667172G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.215G>A	X.37:g.153667172G>A	ENSP00000394071:p.Trp72*					GDI1_uc011mzo.1_Nonsense_Mutation_p.W72*	p.W72*	NM_001493	NP_001484	P31150	GDIA_HUMAN			3	557	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		72					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Nonsense_Mutation	SNP	ENST00000447750.2	37	c.215G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	39	7.752866	0.98471	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.012	14.3717	0.66843	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000358756:W72X	W	+	2	0	GDI1	153320366	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.754000	0.98908	1.967000	0.57214	0.600000	0.82982	TGG		PASS	0.572	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		86	11	86	11	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247751925	247751926	+	Frame_Shift_Ins	INS	-	-	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr1:247751925_247751926insT	ENST00000320065.1	+	1	264_265	c.264_265insT	c.(265-267)tggfs	p.W89fs	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGTAAACCTGTGGGAACCCAT	0.515																																						uc010pyy.1																			0					0						c.(262-267)CTGTGGfs		olfactory receptor, family 2, subfamily G,																																				SO:0001589	frameshift_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751925_247751926insT	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.265dupT	1.37:g.247751926_247751926dupT	ENSP00000326349:p.Trp89fs						p.L88fs	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	264_265	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		88_89			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Frame_Shift_Ins	INS	ENST00000320065.1	37	c.264_265insT	CCDS31092.1																																																																																					0.515	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			50	50	50	50	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124641091	124641092	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr3:124641091_124641092delTC	ENST00000311075.3	-	4	731_732	c.693_694delGA	c.(691-696)gagaaafs	p.K232fs		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	233	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ATGGAATGTTTCTCTTCTGGGT	0.361																																						uc003ehq.1																			0					0						c.(691-696)GAGAAAfs		mucin 13, epithelial transmembrane																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124641091_124641092delTC	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.693_694delGA	3.37:g.124641093_124641094delTC	ENSP00000312235:p.Lys232fs						p.E231fs	NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN			4	717_718	-			231_232			SEA.|Extracellular (Potential).		Q6UWD9|Q9NXT5	Frame_Shift_Del	DEL	ENST00000311075.3	37	c.693_694delGA																																																																																						0.361	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		22	55	22	55	---	---	---	---
CWC27	10283	broad.mit.edu	37	5	64082402	64082402	+	Frame_Shift_Del	DEL	A	A	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr5:64082402delA	ENST00000381070.3	+	6	764	c.547delA	c.(547-549)aaafs	p.K184fs	CWC27_ENST00000508024.1_Frame_Shift_Del_p.K184fs	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	184					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TAAAAGGCTGAAAAAAGAGAA	0.308																																						uc003jtn.1																			0					0						c.(547-549)AAAfs		serologically defined colon cancer antigen 10							73.0	76.0	75.0					5																	64082402		2203	4299	6502	SO:0001589	frameshift_variant	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64082402delA	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.547delA	5.37:g.64082402delA	ENSP00000370460:p.Lys184fs					CWC27_uc003jtl.2_Frame_Shift_Del_p.K183fs|CWC27_uc003jtm.2_Frame_Shift_Del_p.K183fs|CWC27_uc010iwt.1_Frame_Shift_Del_p.K183fs	p.K183fs	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			6	766	+			183					O60529|O60530|Q96EM3	Frame_Shift_Del	DEL	ENST00000381070.3	37	c.547delA	CCDS3982.2																																																																																					0.308	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		10	26	10	26	---	---	---	---
ZSCAN23	222696	broad.mit.edu	37	6	28402480	28402480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:28402480delC	ENST00000289788.4	-	4	1077	c.932delG	c.(931-933)ggcfs	p.G311fs	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	311					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						GAAGGCTTTGCCACAAACACT	0.532																																						uc003nli.3																			0					0						c.(931-933)GGCfs		zinc finger protein 390							72.0	64.0	66.0					6																	28402480		692	1591	2283	SO:0001589	frameshift_variant	222696				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28402480delC	AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.932delG	6.37:g.28402480delC	ENSP00000289788:p.Gly311fs					ZSCAN23_uc003nlh.2_RNA|ZSCAN23_uc010jrf.1_RNA|ZSCAN23_uc011dli.1_3'UTR	p.G311fs	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN			4	1113	-			311			C2H2-type 3.		Q96KV9	Frame_Shift_Del	DEL	ENST00000289788.4	37	c.932delG	CCDS47393.1																																																																																					0.532	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043751.2	XM_167147		7	10	7	10	---	---	---	---
LOC101929705	101929705	broad.mit.edu	37	6	44042334	44042335	+	RNA	DEL	AC	AC	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr6:44042334_44042335delAC	ENST00000422059.1	-	0	54_55				RP5-1120P11.3_ENST00000455005.1_lincRNA																							CAGTTTCATTACACACACAGAC	0.574											OREG0017461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owm.1																			0													Homo sapiens cDNA: FLJ21083 fis, clone CAS03150.																																						0							g.chr6:44042334_44042335delAC																													6.37:g.44042340_44042341delAC			OREG0017461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921									1		-									RNA	DEL	ENST00000422059.1	37	c.55_56delGT																																																																																						0.574	RP5-1120P11.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000040699.1			4	2	4	2	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255577	70255579	+	In_Frame_Del	DEL	CCA	CCA	-	rs35604576|rs375018695		TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr7:70255577_70255579delCCA	ENST00000342771.4	+	19	3696_3698	c.3375_3377delCCA	c.(3373-3378)agccac>agc	p.H1133del	AUTS2_ENST00000406775.2_In_Frame_Del_p.H1109del	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1133	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGACTACAGccaccaccaccac	0.68																																						uc003tvw.3																			0				ovary(2)|central_nervous_system(1)	3						c.(3373-3378)AGCCAC>AGC		autism susceptibility candidate 2 isoform 1																																				SO:0001651	inframe_deletion	26053							g.chr7:70255577_70255579delCCA	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3375_3377delCCA	7.37:g.70255586_70255588delCCA	ENSP00000344087:p.His1133del					AUTS2_uc003tvx.3_In_Frame_Del_p.H1109del|AUTS2_uc011keg.1_In_Frame_Del_p.H585del	p.H1133del	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4118_4120	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1133			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	In_Frame_Del	DEL	ENST00000342771.4	37	c.3375_3377delCCA	CCDS5539.1																																																																																					0.680	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			4	2	4	2	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139890382	139890382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:139890382delA	ENST00000303045.6	-	3	715	c.269delT	c.(268-270)ttcfs	p.F90fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.F90fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	90	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCAACTCGAAGGCCGTGGT	0.701										HNSCC(7;0.00092)																												uc003yvd.2																			0				ovary(11)|pancreas(1)|skin(1)	13						c.(268-270)TTCfs		collagen, type XXII, alpha 1							15.0	18.0	17.0					8																	139890382		2190	4284	6474	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890382delA	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.269delT	8.37:g.139890382delA	ENSP00000303153:p.Phe90fs	HNSCC(7;0.00092)					p.F90fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	716	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		90			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.269delT	CCDS6376.1																																																																																					0.701	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	2	4	2	---	---	---	---
ARC	23237	broad.mit.edu	37	8	143694528	143694528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr8:143694528delG	ENST00000356613.2	-	1	2305	c.1105delC	c.(1105-1107)cacfs	p.H369fs	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	120					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACCGGGAGGTGGGGGCCGGCC	0.711																																						uc003ywn.1																			0				breast(1)	1						c.(1105-1107)CACfs		activity-regulated cytoskeleton-associated							9.0	11.0	10.0					8																	143694528		2158	4244	6402	SO:0001589	frameshift_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694528delG	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1105delC	8.37:g.143694528delG	ENSP00000349022:p.His369fs						p.H369fs	NM_015193	NP_056008	Q7LC44	ARC_HUMAN			1	1306	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	369					B4DFL0|O60937	Frame_Shift_Del	DEL	ENST00000356613.2	37	c.1105delC	CCDS34950.1																																																																																					0.711	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			2	4	2	4	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					uc004chh.2																			2	Deletion - In frame(2)		prostate(1)|central_nervous_system(1)		0						c.(1624-1626)AGCdel		small nuclear RNA activating complex,																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1633_1635	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																					0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		7	6	7	6	---	---	---	---
SLC35C1	55343	broad.mit.edu	37	11	45832809	45832810	+	Frame_Shift_Ins	INS	-	-	T			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:45832809_45832810insT	ENST00000314134.3	+	2	2414_2415	c.1018_1019insT	c.(1018-1020)gtcfs	p.V340fs	SLC35C1_ENST00000456334.1_Frame_Shift_Ins_p.V327fs|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000442528.2_Frame_Shift_Ins_p.V327fs	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	340					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CTACACCTGGGTCAGGGGCTGG	0.634																																						uc001nbp.2																			0					0						c.(1018-1020)GTCfs		GDP-fucose transporter 1 isoform a																																				SO:0001589	frameshift_variant	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45832809_45832810insT		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.1019dupT	11.37:g.45832810_45832810dupT	ENSP00000313318:p.Val340fs					SLC35C1_uc001nbo.2_Frame_Shift_Ins_p.V327fs|SLC35C1_uc010rgm.1_Frame_Shift_Ins_p.V327fs	p.V340fs	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	2	1730_1731	+			340					B2RDB2|Q9BV76|Q9NUJ8	Frame_Shift_Ins	INS	ENST00000314134.3	37	c.1018_1019insT	CCDS7914.1																																																																																					0.634	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		2	11	2	11	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106849403	106849403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr11:106849403delG	ENST00000526355.2	-	3	897	c.429delC	c.(427-429)tccfs	p.S143fs	GUCY1A2_ENST00000282249.2_Frame_Shift_Del_p.S143fs|GUCY1A2_ENST00000347596.2_Frame_Shift_Del_p.S143fs	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	143					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CTTCTTTGTTGGAGTGGTCTG	0.323																																						uc001pjg.1																			0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(427-429)TCCfs		guanylate cyclase 1, soluble, alpha 2							122.0	119.0	120.0					11																	106849403		2201	4298	6499	SO:0001589	frameshift_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106849403delG	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.429delC	11.37:g.106849403delG	ENSP00000431245:p.Ser143fs					GUCY1A2_uc010rvo.1_Frame_Shift_Del_p.S143fs|GUCY1A2_uc009yxn.1_Frame_Shift_Del_p.S143fs	p.S143fs	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	3	819	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	143					A1L4C4|B7ZLT5	Frame_Shift_Del	DEL	ENST00000526355.2	37	c.429delC	CCDS8335.1																																																																																					0.323	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			10	21	10	21	---	---	---	---
H3F3C	440093	broad.mit.edu	37	12	31945016	31945016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr12:31945016delT	ENST00000340398.3	-	1	159	c.85delA	c.(85-87)agcfs	p.S29fs		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	29					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GAGGGGGTGCTTTTCCTGGCA	0.587										HNSCC(67;0.2)																												uc001rkr.2																			0					0						c.(85-87)AGCfs		histone H3-like							50.0	50.0	50.0					12																	31945016		2203	4300	6503	SO:0001589	frameshift_variant	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31945016delT	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.85delA	12.37:g.31945016delT	ENSP00000339835:p.Ser29fs	HNSCC(67;0.2)					p.S29fs	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	160	-			29					E9P281	Frame_Shift_Del	DEL	ENST00000340398.3	37	c.85delA	CCDS31769.1																																																																																					0.587	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		32	17	32	17	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208948	58208948	+	Frame_Shift_Del	DEL	G	G	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr13:58208948delG	ENST00000377918.3	+	1	2294	c.2268delG	c.(2266-2268)aagfs	p.K756fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	756					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTGGGGGCAAGGGCAAGAAGA	0.557																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2266-2268)AAGfs		protocadherin 17 precursor							90.0	81.0	84.0					13																	58208948		2203	4300	6503	SO:0001589	frameshift_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208948delG	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2268delG	13.37:g.58208948delG	ENSP00000367151:p.Lys756fs					PCDH17_uc010aec.1_Frame_Shift_Del_p.K756fs	p.K756fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3160	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	756			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Frame_Shift_Del	DEL	ENST00000377918.3	37	c.2268delG	CCDS31986.1																																																																																					0.557	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		27	22	27	22	---	---	---	---
CYP1A1	1543	broad.mit.edu	37	15	75013955	75013974	+	Frame_Shift_Del	DEL	ATGTTAATGATCTTCTCATC	ATGTTAATGATCTTCTCATC	-	rs368742906	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr15:75013955_75013974delATGTTAATGATCTTCTCATC	ENST00000379727.3	-	3	1108_1127	c.910_929delGATGAGAAGATCATTAACAT	c.(910-930)gatgagaagatcattaacatcfs	p.DEKIINI304fs	CYP1A1_ENST00000564596.1_Frame_Shift_Del_p.DEKIINI43fs|CYP1A1_ENST00000395049.4_Frame_Shift_Del_p.DEKIINI304fs|CYP1A1_ENST00000395048.2_Frame_Shift_Del_p.DEKIINI304fs|CYP1A1_ENST00000567032.1_Frame_Shift_Del_p.DEKIINI304fs			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	304					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GTCCAAGACGATGTTAATGATCTTCTCATCTGACAGCTGG	0.514									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3																			0				ovary(2)|breast(2)|pancreas(1)	5						c.(910-930)GATGAGAAGATCATTAACATCfs		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)																																			SO:0001589	frameshift_variant	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013955_75013974delATGTTAATGATCTTCTCATC	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.910_929delGATGAGAAGATCATTAACAT	15.37:g.75013955_75013974delATGTTAATGATCTTCTCATC	ENSP00000369050:p.Asp304fs					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Frame_Shift_Del_p.D40fs|CYP1A1_uc010bjx.2_Frame_Shift_Del_p.D40fs|CYP1A1_uc002ayq.3_Frame_Shift_Del_p.D304fs|CYP1A1_uc010bjy.2_Frame_Shift_Del_p.D304fs|CYP1A1_uc010bjz.1_Frame_Shift_Del_p.D40fs	p.D304fs	NM_000499	NP_000490	P04798	CP1A1_HUMAN			3	1032_1051	-			304_310					A4F3V9|A4F3W0|Q53G18	Frame_Shift_Del	DEL	ENST00000379727.3	37	c.910_929delGATGAGAAGATCATTAACAT	CCDS10268.1																																																																																					0.514	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		26	12	26	12	---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44096824	44096826	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr19:44096824_44096826delTCT	ENST00000602269.1	-	2	1409_1411	c.1224_1226delAGA	c.(1222-1227)tcagag>tcg	p.E409del	IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_In_Frame_Del_p.E409del			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	409	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AGCGGCCCGCTCTGAGTCGCCAC	0.66																																						uc002oww.2																			0				ovary(1)|pancreas(1)	2						c.(1222-1227)TCAGAG>TCG		immunity-related GTPase family, Q																																				SO:0001651	inframe_deletion	126298						protein binding	g.chr19:44096824_44096826delTCT	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1224_1226delAGA	19.37:g.44096824_44096826delTCT	ENSP00000472250:p.Glu409del					IRGQ_uc010eiv.2_In_Frame_Del_p.E409del	p.E409del	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			2	1342_1344	-		Prostate(69;0.0199)	409					B2RNP3	In_Frame_Del	DEL	ENST00000602269.1	37	c.1224_1226delAGA	CCDS33040.1																																																																																					0.660	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		65	32	65	32	---	---	---	---
CARD10	29775	broad.mit.edu	37	22	37890147	37890147	+	Frame_Shift_Del	DEL	C	C	-	rs200284070	byFrequency	TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chr22:37890147delC	ENST00000403299.1	-	17	2638	c.2422delG	c.(2422-2424)gtgfs	p.V808fs	CARD10_ENST00000406271.3_Frame_Shift_Del_p.V522fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.V808fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	808					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGCGCCCCCACGGGCTTGGGC	0.677																																						uc003asx.1																			0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(2422-2424)GTGfs		caspase recruitment domain protein 10							9.0	12.0	11.0					22																	37890147		2147	4218	6365	SO:0001589	frameshift_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37890147delC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2422delG	22.37:g.37890147delC	ENSP00000384570:p.Val808fs					CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'Flank|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Frame_Shift_Del_p.V126fs|CARD10_uc003asw.1_Frame_Shift_Del_p.V522fs|CARD10_uc003asy.1_Frame_Shift_Del_p.V808fs	p.V808fs	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			16	2425	-	Melanoma(58;0.0574)		808					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Del	DEL	ENST00000403299.1	37	c.2422delG	CCDS13948.1																																																																																					0.677	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		4	3	4	3	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37663222	37663222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:37663222delA	ENST00000378588.4	+	9	1057	c.990delA	c.(988-990)ccafs	p.P330fs	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Frame_Shift_Del_p.P298fs|CYBB_ENST00000536160.1_Frame_Shift_Del_p.P63fs|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	330	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TCAAGTGCCCAAAGGTGTCCA	0.478																																						uc004ddr.2																			0				central_nervous_system(1)|skin(1)	2						c.(988-990)CCAfs		cytochrome b-245 beta polypeptide							105.0	95.0	99.0					X																	37663222		2202	4300	6502	SO:0001589	frameshift_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37663222delA	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.990delA	X.37:g.37663222delA	ENSP00000367851:p.Pro330fs					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Frame_Shift_Del_p.P298fs|CYBB_uc011mkg.1_Frame_Shift_Del_p.P63fs	p.P330fs	NM_000397	NP_000388	P04839	CY24B_HUMAN			9	1051	+			330			Cytoplasmic (Potential).|FAD-binding FR-type.		A8K138|Q2PP16	Frame_Shift_Del	DEL	ENST00000378588.4	37	c.990delA	CCDS14242.1																																																																																					0.478	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			13	30	13	30	---	---	---	---
NXF3	56000	broad.mit.edu	37	X	102334777	102334778	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-46-3768-01A-01D-0983-08	TCGA-46-3768-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	30666313-cc29-4fce-8308-b04fb932083c	b7921120-9dcf-49f4-b1a3-dd33a3fddc47	g.chrX:102334777_102334778delAG	ENST00000395065.3	-	13	1174_1175	c.1073_1074delCT	c.(1072-1074)tctfs	p.S358fs	NXF3_ENST00000425644.1_Frame_Shift_Del_p.S30fs	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	358	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTCGATCTCCAGAGTCATAGAT	0.52																																						uc004eju.2																			0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1072-1074)TCTfs		nuclear RNA export factor 3																																				SO:0001589	frameshift_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102334777_102334778delAG	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1073_1074delCT	X.37:g.102334779_102334780delAG	ENSP00000378504:p.Ser358fs					NXF3_uc010noi.1_Frame_Shift_Del_p.S208fs	p.S358fs	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			13	1144_1145	-			358			NTF2.		B4DYS7|Q5H9I1|Q9H1A9	Frame_Shift_Del	DEL	ENST00000395065.3	37	c.1073_1074delCT	CCDS14503.1																																																																																					0.520	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		19	46	19	46	---	---	---	---
