#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
CHD5	26038	broad.mit.edu	37	1	6194301	6194301	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:6194301T>C	ENST00000262450.3	-	20	3130	c.3031A>G	c.(3031-3033)Aat>Gat	p.N1011D	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.N1011D(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TAGGAGCCATTGGGCAAGACA	0.597																																						uc001amb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(3031-3033)AAT>GAT		chromodomain helicase DNA binding protein 5							79.0	84.0	82.0					1																	6194301		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6194301T>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3031A>G	1.37:g.6194301T>C	ENSP00000262450:p.Asn1011Asp					CHD5_uc001alz.1_5'Flank|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.N1011D	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	20	3131	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1011					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3031A>G	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.758637	0.49468	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.74737	-0.87	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	N	0.25647	0.755	0.80722	D	1	P	0.47762	0.9	B	0.36464	0.225	T	0.65565	-0.6137	10	0.48119	T	0.1	-26.9381	14.3986	0.67027	0.0:0.0:0.0:1.0	.	1011	Q8TDI0	CHD5_HUMAN	D	1011;527;419;419	ENSP00000262450:N1011D	ENSP00000262450:N1011D	N	-	1	0	CHD5	6116888	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.917000	0.87498	1.865000	0.54081	0.459000	0.35465	AAT		PASS	0.597	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		34	111	34	111	---	---	---	---
TAS1R1	80835	broad.mit.edu	37	1	6635260	6635260	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:6635260C>T	ENST00000333172.6	+	3	1261	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	TAS1R1_ENST00000328191.4_Silent_p.S356S|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	356					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.S356S(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACAAGGGCTCCTGGTGCAGCA	0.577																																						uc001ant.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1066-1068)TCC>TCT		sweet taste receptor T1r isoform b							50.0	44.0	46.0					1																	6635260		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6635260C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1068C>T	1.37:g.6635260C>T						TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Silent_p.S356S	p.S356S	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	1068	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	356			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.1068C>T	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.190968	0.01607	.	.	ENSG00000173662	ENST00000411823	.	.	.	5.4	1.47	0.22746	.	.	.	.	.	T	0.31451	0.0797	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.24083	-1.0170	4	.	.	.	.	6.316	0.21190	0.0:0.5159:0.2637:0.2203	.	.	.	.	L	282	.	.	P	+	2	0	TAS1R1	6557847	0.000000	0.05858	0.017000	0.16124	0.090000	0.18270	-0.051000	0.11885	0.011000	0.14865	-0.165000	0.13383	CCT		PASS	0.577	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			9	37	9	37	---	---	---	---
H6PD	9563	broad.mit.edu	37	1	9324427	9324427	+	Silent	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:9324427A>T	ENST00000377403.2	+	5	2177	c.1875A>T	c.(1873-1875)ccA>ccT	p.P625P	H6PD_ENST00000602477.1_Silent_p.P636P	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	625	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.P625P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGCGTCCCACTCTCAGACC	0.672																																						uc001apt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1873-1875)CCA>CCT		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						22.0	24.0	24.0					1																	9324427		2201	4296	6497	SO:0001819	synonymous_variant	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324427A>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1875A>T	1.37:g.9324427A>T							p.P625P	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2148	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	625			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	c.1875A>T	CCDS101.1																																																																																				PASS	0.672	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		10	23	10	23	---	---	---	---
MASP2	10747	broad.mit.edu	37	1	11087244	11087244	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:11087244A>T	ENST00000400897.3	-	11	1774	c.1759T>A	c.(1759-1761)Tat>Aat	p.Y587N	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	587	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Y587N(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ATGTCGACATACATTAGATTT	0.428																																					GBM(35;611 746 20780 22741 36496)	uc001aru.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1759-1761)TAT>AAT		mannan-binding lectin serine protease 2 isoform							140.0	139.0	140.0					1																	11087244		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11087244A>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1759T>A	1.37:g.11087244A>T	ENSP00000383690:p.Tyr587Asn						p.Y587N	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	11	1780	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	587			Peptidase S1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1759T>A	CCDS123.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523385	0.44866	.	.	ENSG00000009724	ENST00000400897	D	0.88509	-2.39	5.05	5.05	0.67936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.297143	0.32935	N	0.005464	D	0.90614	0.7057	M	0.66560	2.04	0.80722	D	1	P	0.52061	0.95	P	0.51516	0.672	D	0.89989	0.4106	10	0.37606	T	0.19	.	14.4546	0.67409	1.0:0.0:0.0:0.0	.	587	O00187	MASP2_HUMAN	N	587	ENSP00000383690:Y587N	ENSP00000383690:Y587N	Y	-	1	0	MASP2	11009831	1.000000	0.71417	0.991000	0.47740	0.324000	0.28378	6.604000	0.74150	1.891000	0.54761	0.460000	0.39030	TAT		PASS	0.428	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		22	142	22	142	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	17953966	17953966	+	Nonsense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:17953966A>T	ENST00000361221.3	+	15	1711	c.1552A>T	c.(1552-1554)Aag>Tag	p.K518*	ARHGEF10L_ENST00000375420.3_Nonsense_Mutation_p.K276*|ARHGEF10L_ENST00000434513.1_Nonsense_Mutation_p.K518*|ARHGEF10L_ENST00000375415.1_Nonsense_Mutation_p.K479*|ARHGEF10L_ENST00000167825.4_Nonsense_Mutation_p.K226*|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Nonsense_Mutation_p.K296*|ARHGEF10L_ENST00000452522.1_Nonsense_Mutation_p.K479*	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	518						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K518*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCAGCTGACCAAGAGCGTCAG	0.657																																						uc001ban.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1552-1554)AAG>TAG		Rho guanine nucleotide exchange factor (GEF)							44.0	38.0	40.0					1																	17953966		2201	4300	6501	SO:0001587	stop_gained	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17953966A>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1552A>T	1.37:g.17953966A>T	ENSP00000355060:p.Lys518*					ARHGEF10L_uc009vpe.1_Nonsense_Mutation_p.K479*|ARHGEF10L_uc001bao.2_Nonsense_Mutation_p.K479*|ARHGEF10L_uc001bap.2_Nonsense_Mutation_p.K479*|ARHGEF10L_uc010ocr.1_Nonsense_Mutation_p.K276*|ARHGEF10L_uc001baq.2_Nonsense_Mutation_p.K284*|ARHGEF10L_uc010ocs.1_Nonsense_Mutation_p.K296*|ARHGEF10L_uc001bar.2_Nonsense_Mutation_p.K226*|ARHGEF10L_uc009vpf.2_RNA	p.K518*	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	15	1711	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	518					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Nonsense_Mutation	SNP	ENST00000361221.3	37	c.1552A>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	A	39	7.723064	0.98453	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	.	.	.	5.14	5.14	0.70334	.	0.061993	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.373	13.9197	0.63923	1.0:0.0:0.0:0.0	.	.	.	.	X	518;479;518;479;276;296;296;226	.	ENSP00000167825:K226X	K	+	1	0	ARHGEF10L	17826553	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.354000	0.73036	2.158000	0.67659	0.379000	0.24179	AAG		PASS	0.657	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		5	26	5	26	---	---	---	---
KLHDC7A	127707	broad.mit.edu	37	1	18809311	18809311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:18809311G>A	ENST00000400664.1	+	1	1888	c.1836G>A	c.(1834-1836)tgG>tgA	p.W612*		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	612						integral component of membrane (GO:0016021)		p.W612*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCGCTGGGACTTTGCCC	0.697																																						uc001bax.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1834-1836)TGG>TGA		kelch domain containing 7A							23.0	24.0	24.0					1																	18809311		2203	4294	6497	SO:0001587	stop_gained	127707					integral to membrane		g.chr1:18809311G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1836G>A	1.37:g.18809311G>A	ENSP00000383505:p.Trp612*					KLHDC7A_uc009vpg.2_Nonsense_Mutation_p.W394*	p.W612*	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1888	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	612			Kelch 4.		Q8N8W6	Nonsense_Mutation	SNP	ENST00000400664.1	37	c.1836G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	39	7.502281	0.98322	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3105	0.87208	0.0:0.0:1.0:0.0	.	.	.	.	X	612;549	.	ENSP00000383505:W612X	W	+	3	0	KLHDC7A	18681898	1.000000	0.71417	0.956000	0.39512	0.854000	0.48673	9.763000	0.98947	2.423000	0.82170	0.561000	0.74099	TGG		PASS	0.697	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		3	19	3	19	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22158245	22158245	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:22158245G>T	ENST00000374695.3	-	82	11331	c.11252C>A	c.(11251-11253)cCa>cAa	p.P3751Q	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3751	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.P3751Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGGGCCAGTGGTGTGGGATG	0.657																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(11251-11253)CCA>CAA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						59.0	63.0	62.0					1																	22158245		2203	4299	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22158245G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11252C>A	1.37:g.22158245G>T	ENSP00000363827:p.Pro3751Gln					HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.P3752Q	p.P3751Q	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	82	11292	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3751			Laminin G-like 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.11252C>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.400812	0.83120	.	.	ENSG00000142798	ENST00000374695	T	0.77358	-1.09	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.38897	N	0.001523	D	0.87245	0.6129	M	0.66506	2.035	0.49582	D	0.999806	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88426	0.3032	10	0.87932	D	0	.	17.5451	0.87859	0.0:0.0:1.0:0.0	.	1691;3751	Q59EG0;P98160	.;PGBM_HUMAN	Q	3751	ENSP00000363827:P3751Q	ENSP00000363827:P3751Q	P	-	2	0	HSPG2	22030832	1.000000	0.71417	0.208000	0.23602	0.759000	0.43091	5.350000	0.66016	2.477000	0.83638	0.556000	0.70494	CCA		PASS	0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	59	16	59	---	---	---	---
SLC30A2	7780	broad.mit.edu	37	1	26371674	26371674	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:26371674C>A	ENST00000374278.3	-	2	301	c.85G>T	c.(85-87)Ggc>Tgc	p.G29C	SLC30A2_ENST00000374276.3_Missense_Mutation_p.G29C|SLC30A2_ENST00000498060.1_5'UTR	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	29					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.G29C(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GGAATCCAGCCAGCCCCTTCC	0.607																																						uc001blh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GGC>TGC		solute carrier family 30, member 2 isoform 2							45.0	45.0	45.0					1																	26371674		2202	4298	6500	SO:0001583	missense	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371674C>A	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.85G>T	1.37:g.26371674C>A	ENSP00000363396:p.Gly29Cys					SLC30A2_uc001blg.1_Missense_Mutation_p.G29C	p.G29C	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	302	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	29			Cytoplasmic (Potential).		Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	c.85G>T	CCDS272.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503402	0.44558	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.65732	0.43;-0.17	5.73	1.83	0.25207	.	0.311820	0.23483	N	0.047700	T	0.50701	0.1631	L	0.44542	1.39	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.002;0.006	T	0.48658	-0.9016	10	0.56958	D	0.05	-8.4943	9.2664	0.37643	0.0:0.6289:0.0:0.3711	.	29;29	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	C	29	ENSP00000363396:G29C;ENSP00000363394:G29C	ENSP00000363394:G29C	G	-	1	0	SLC30A2	26244261	0.000000	0.05858	0.224000	0.23877	0.239000	0.25481	-0.063000	0.11655	0.510000	0.28216	0.655000	0.94253	GGC		PASS	0.607	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		11	40	11	40	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34174707	34174707	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:34174707G>A	ENST00000373380.1	-	1	397	c.177C>T	c.(175-177)tcC>tcT	p.S59S	CSMD2_ENST00000373381.4_Silent_p.S1186S|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1146	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1146S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCTCCTTCGGAGAGTTCGA	0.423																																						uc001bxn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(3436-3438)TCC>TCT		CUB and Sushi multiple domains 2							121.0	116.0	118.0					1																	34174707		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34174707G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.177C>T	1.37:g.34174707G>A						CSMD2_uc001bxm.1_Silent_p.S1186S|CSMD2_uc001bxo.1_Silent_p.S59S	p.S1146S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			22	3467	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1146			Extracellular (Potential).|CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.3438C>T																																																																																					PASS	0.423	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		29	113	29	113	---	---	---	---
SMIM12	113444	broad.mit.edu	37	1	35320824	35320824	+	3'UTR	SNP	C	C	A	rs141693729		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:35320824C>A	ENST00000521580.2	-	0	899				SMIM12_ENST00000446026.1_3'UTR|SMIM12_ENST00000456842.1_3'UTR	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3	Q96EX1	SIM12_HUMAN	small integral membrane protein 12							integral component of membrane (GO:0016021)		p.S153I(1)									CATTCCTGAGCTGACAAGACA	0.473																																						uc001byb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)AGC>ATC		hypothetical protein LOC113444							82.0	80.0	81.0					1																	35320824		2203	4300	6503	SO:0001624	3_prime_UTR_variant	113444							g.chr1:35320824C>A		CCDS53295.1	1p34.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000163866	ENSG00000163866			25154	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 212"""	C1orf212		12477932	Standard	NM_138428		Approved	FLJ90372	uc001byb.3	Q96EX1	OTTHUMG00000004375	ENST00000521580.2:c.*476G>T	1.37:g.35320824C>A							p.S153I	NM_138428	NP_612437					2	875	-		Myeloproliferative disorder(586;0.0393)						D3DPR5|Q49AP7|Q52LP9|Q8NCB4	Missense_Mutation	SNP	ENST00000521580.2	37	c.458G>T	CCDS53295.1																																																																																				PASS	0.473	SMIM12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012715.3	NM_138428		13	82	13	82	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35334343	35334343	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:35334343G>A	ENST00000373347.1	-	9	2616	c.2348C>T	c.(2347-2349)cCc>cTc	p.P783L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P783L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	783					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.P783L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCTGAGTCGGGGAGGCTACG	0.726																																						uc001byc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2347-2349)CCC>CTC		discs, large (Drosophila) homolog-associated							29.0	29.0	29.0					1																	35334343		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35334343G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2348C>T	1.37:g.35334343G>A	ENSP00000362444:p.Pro783Leu						p.P783L	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			7	2348	-		Myeloproliferative disorder(586;0.0393)	783					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2348C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807346	0.50421	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.25414	1.8;1.8	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	N	0.25380	0.74	0.80722	D	1	B	0.28470	0.213	B	0.34824	0.19	T	0.04029	-1.0983	10	0.10636	T	0.68	-15.9637	18.6962	0.91601	0.0:0.0:1.0:0.0	.	783	O95886	DLGP3_HUMAN	L	783	ENSP00000362444:P783L;ENSP00000235180:P783L	ENSP00000235180:P783L	P	-	2	0	DLGAP3	35106930	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	9.479000	0.97929	2.633000	0.89246	0.655000	0.94253	CCC		PASS	0.726	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		15	27	15	27	---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38227289	38227289	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:38227289G>T	ENST00000373048.4	-	3	637	c.638C>A	c.(637-639)gCc>gAc	p.A213D	EPHA10_ENST00000427468.2_Missense_Mutation_p.A213D|EPHA10_ENST00000319637.6_Missense_Mutation_p.A213D	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	213	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.A213D(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCACGGTGGCGCGGCACTG	0.692																																						uc009vvi.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|stomach(3)|lung(1)	8						c.(637-639)GCC>GAC		EPH receptor A10 isofom 3							16.0	20.0	18.0					1																	38227289		2196	4291	6487	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227289G>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.638C>A	1.37:g.38227289G>T	ENSP00000362139:p.Ala213Asp					EPHA10_uc001cbw.3_Missense_Mutation_p.A213D	p.A213D	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	724	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	213			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.638C>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002563	0.54254	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.76186	-1.0;-0.99;4.43	4.52	4.52	0.55395	.	0.000000	0.41500	D	0.000874	T	0.80265	0.4591	M	0.64997	1.995	0.80722	D	1	P;P	0.50528	0.842;0.936	B;P	0.57009	0.397;0.811	T	0.79492	-0.1781	10	0.40728	T	0.16	.	13.2473	0.60029	0.0:0.1734:0.8266:0.0	.	213;213	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	D	213	ENSP00000397746:A213D;ENSP00000362139:A213D;ENSP00000316395:A213D	ENSP00000316395:A213D	A	-	2	0	EPHA10	37999876	0.187000	0.23238	0.997000	0.53966	0.795000	0.44927	2.455000	0.44988	2.476000	0.83614	0.637000	0.83480	GCC		PASS	0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		7	15	7	15	---	---	---	---
PPT1	5538	broad.mit.edu	37	1	40535455	40535455	+	IGR	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:40535455C>A	ENST00000433473.3	-	0	2740				CAP1_ENST00000372805.3_Missense_Mutation_p.S301Y|CAP1_ENST00000372797.3_Missense_Mutation_p.S301Y|CAP1_ENST00000372792.2_Missense_Mutation_p.S301Y|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372798.1_Missense_Mutation_p.S300Y|CAP1_ENST00000340450.3_Missense_Mutation_p.S300Y|CAP1_ENST00000372802.1_Missense_Mutation_p.S300Y	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)	p.S301Y(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACCATTCTCTGCACCTAAA	0.522																																						uc001cfa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(901-903)TCT>TAT		adenylyl cyclase-associated protein							99.0	95.0	96.0					1																	40535455		1939	4132	6071	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40535455C>A	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40535455C>A						CAP1_uc001cey.3_Missense_Mutation_p.S301Y|CAP1_uc001cez.3_Missense_Mutation_p.S301Y|CAP1_uc009vvz.2_Missense_Mutation_p.S301Y|CAP1_uc010oje.1_Missense_Mutation_p.S218Y	p.S301Y	NM_006367	NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	1131	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	301					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.902C>A	CCDS447.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717127	0.68844	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7	5.59	5.59	0.84812	Adenylate cyclase-associated CAP, N-terminal (1);	0.267662	0.42172	D	0.000746	T	0.18467	0.0443	N	0.14661	0.345	0.38561	D	0.949716	P;P	0.45531	0.783;0.86	P;P	0.53266	0.516;0.722	T	0.05750	-1.0866	10	0.62326	D	0.03	-16.2735	18.5983	0.91236	0.0:1.0:0.0:0.0	.	248;301	E7ENY9;Q01518	.;CAP1_HUMAN	Y	301;300;301;278;300;300;301	ENSP00000361883:S301Y;ENSP00000361888:S300Y;ENSP00000361878:S301Y;ENSP00000361884:S300Y;ENSP00000344832:S300Y;ENSP00000361891:S301Y	ENSP00000344832:S300Y	S	+	2	0	CAP1	40308042	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.462000	0.45049	2.640000	0.89533	0.650000	0.86243	TCT		PASS	0.522	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		4	116	4	116	---	---	---	---
RAD54L	8438	broad.mit.edu	37	1	46738151	46738151	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:46738151A>G	ENST00000371975.4	+	11	1857	c.1183A>G	c.(1183-1185)Agg>Ggg	p.R395G	RAD54L_ENST00000442598.1_Missense_Mutation_p.R395G|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	395					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R395G(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCTGATACGGAGGACTTCTGA	0.428								Direct reversal of damage;Homologous recombination																														uc009vye.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1183-1185)AGG>GGG	Direct_reversal_of_damage|Homologous_recombination	RAD54-like protein							143.0	139.0	140.0					1																	46738151		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46738151A>G	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1183A>G	1.37:g.46738151A>G	ENSP00000361043:p.Arg395Gly					RAD54L_uc001cpl.2_Missense_Mutation_p.R395G|RAD54L_uc001cpm.1_Missense_Mutation_p.R215G	p.R395G	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	12	1297	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	395					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1183A>G	CCDS532.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323130	0.81580	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.99961	-9.38;-9.38	4.43	4.43	0.53597	SNF2-related (1);	0.044703	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.988;0.99	D	0.97467	1.0038	10	0.87932	D	0	-19.4653	14.1824	0.65583	1.0:0.0:0.0:0.0	.	215;395	G3V1N0;Q92698	.;RAD54_HUMAN	G	395;395;215	ENSP00000396113:R395G;ENSP00000361043:R395G	ENSP00000361043:R395G	R	+	1	2	RAD54L	46510738	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.457000	0.90361	2.009000	0.58944	0.524000	0.50904	AGG		PASS	0.428	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		15	62	15	62	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55620440	55620440	+	Silent	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:55620440T>A	ENST00000294383.6	-	13	1457	c.1458A>T	c.(1456-1458)tcA>tcT	p.S486S	USP24_ENST00000407756.1_Silent_p.S374S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	486					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.S455S(1)|p.S486S(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCACAGTAGATGATTGTCCTG	0.383																																						uc001cyg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(1120-1122)TCA>TCT		ubiquitin specific protease 24							70.0	65.0	67.0					1																	55620440		1829	4089	5918	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55620440T>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1458A>T	1.37:g.55620440T>A							p.S374S	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			12	1122	-			486					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.1122A>T	CCDS44154.2																																																																																				PASS	0.383	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			8	43	8	43	---	---	---	---
C8B	732	broad.mit.edu	37	1	57395200	57395200	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:57395200C>A	ENST00000371237.4	-	12	1719	c.1653G>T	c.(1651-1653)tgG>tgT	p.W551C	C8B_ENST00000543257.1_Missense_Mutation_p.W499C|C8B_ENST00000535057.1_Missense_Mutation_p.W489C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	551	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.W551C(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCAATTTGACCAGCAATTCC	0.463																																						uc001cyp.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1651-1653)TGG>TGT		complement component 8, beta polypeptide							113.0	99.0	104.0					1																	57395200		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57395200C>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1653G>T	1.37:g.57395200C>A	ENSP00000360281:p.Trp551Cys					C8B_uc010oon.1_Missense_Mutation_p.W489C|C8B_uc010ooo.1_Missense_Mutation_p.W499C	p.W551C	NM_000066	NP_000057	P07358	CO8B_HUMAN			12	1720	-			551			TSP type-1 2.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1653G>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441962	0.63067	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.25250	1.81;1.81;1.81	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	H	0.98701	4.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.83809	0.0240	10	0.87932	D	0	-14.9545	16.8546	0.86002	0.0:1.0:0.0:0.0	.	499;489;551	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	C	551;499;489	ENSP00000360281:W551C;ENSP00000442548:W499C;ENSP00000440113:W489C	ENSP00000360281:W551C	W	-	3	0	C8B	57167788	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.984000	0.70548	2.400000	0.81607	0.561000	0.74099	TGG		PASS	0.463	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			12	53	12	53	---	---	---	---
IL23R	149233	broad.mit.edu	37	1	67724262	67724262	+	Silent	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:67724262T>C	ENST00000347310.5	+	11	1512	c.1341T>C	c.(1339-1341)ccT>ccC	p.P447P	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.P192P	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	447					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.P447P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AACACAAGCCTACAGACTACA	0.388																																						uc001ddo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1339-1341)CCT>CCC		interleukin 23 receptor precursor							103.0	113.0	110.0					1																	67724262		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724262T>C	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1341T>C	1.37:g.67724262T>C						IL23R_uc009waz.2_Silent_p.P244P|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Silent_p.P45P|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Silent_p.P29P|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Silent_p.P193P|IL23R_uc010opn.1_Silent_p.P292P|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Silent_p.P244P|IL23R_uc010opt.1_Silent_p.P88P|IL23R_uc010opu.1_Silent_p.P143P|IL23R_uc010opv.1_Silent_p.P205P|IL23R_uc010opw.1_Silent_p.P82P|IL23R_uc010opx.1_Silent_p.P88P|IL23R_uc010opy.1_Silent_p.P214P|IL23R_uc010opz.1_Silent_p.P88P|IL23R_uc010oqa.1_Silent_p.P88P|IL23R_uc010oqb.1_Silent_p.P276P|IL23R_uc010oqc.1_Silent_p.P163P|IL23R_uc010oqd.1_Silent_p.P82P|IL23R_uc010oqe.1_Silent_p.P45P|IL23R_uc010oqf.1_Silent_p.P45P|IL23R_uc010oqg.1_Silent_p.P45P|IL23R_uc010oqh.1_Silent_p.P88P|IL23R_uc001dds.2_Silent_p.P192P|IL23R_uc001ddt.2_Silent_p.P45P	p.P447P	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			11	1426	+			447			Cytoplasmic (Potential).		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1341T>C	CCDS637.1	.	.	.	.	.	.	.	.	.	.	T	0.220	-1.029398	0.02045	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.6	1.49	0.22878	.	.	.	.	.	T	0.14570	0.0352	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28586	-1.0039	4	.	.	.	.	7.0284	0.24952	0.0:0.5915:0.0:0.4085	.	.	.	.	P	209	.	.	L	+	2	0	IL23R	67496850	0.000000	0.05858	0.010000	0.14722	0.043000	0.13939	-1.081000	0.03403	0.072000	0.16694	-0.248000	0.11899	CTA		PASS	0.388	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		19	155	19	155	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70502167	70502167	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:70502167G>T	ENST00000035383.5	+	18	2064	c.2034G>T	c.(2032-2034)ctG>ctT	p.L678L	LRRC7_ENST00000310961.5_Silent_p.L683L|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	678						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L678L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCACTGTCTGAATAACAGTG	0.428																																						uc001dep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2032-2034)CTG>CTT		leucine rich repeat containing 7							98.0	99.0	99.0					1																	70502167		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70502167G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2034G>T	1.37:g.70502167G>T						LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'UTR	p.L678L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			18	2064	+			678					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.2034G>T	CCDS645.1																																																																																				PASS	0.428	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		25	75	25	75	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79404920	79404920	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:79404920A>T	ENST00000370742.3	-	4	412	c.349T>A	c.(349-351)Tta>Ata	p.L117I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	117					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L117I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACATTATCTAAATGGCAGTTT	0.244																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)TTA>ATA		EGF, latrophilin and seven transmembrane domain							40.0	40.0	40.0					1																	79404920		1780	4030	5810	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79404920A>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.349T>A	1.37:g.79404920A>T	ENSP00000359778:p.Leu117Ile						p.L117I	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	4	505	-			117			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.349T>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.150174	0.37923	.	.	ENSG00000162618	ENST00000370742	T	0.35973	1.28	6.07	2.4	0.29515	.	0.368199	0.28349	N	0.015669	T	0.12817	0.0311	M	0.61703	1.905	0.29545	N	0.851772	B	0.11235	0.004	B	0.09377	0.004	T	0.22173	-1.0224	9	.	.	.	.	5.0935	0.14721	0.7202:0.0:0.1478:0.132	.	117	Q9HBW9	ELTD1_HUMAN	I	117	ENSP00000359778:L117I	.	L	-	1	2	ELTD1	79177508	0.999000	0.42202	0.952000	0.39060	0.888000	0.51559	1.288000	0.33296	0.153000	0.19213	0.477000	0.44152	TTA		PASS	0.244	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		9	29	9	29	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94543316	94543316	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:94543316G>T	ENST00000370225.3	-	11	1570	c.1484C>A	c.(1483-1485)gCc>gAc	p.A495D	ABCA4_ENST00000535735.1_Missense_Mutation_p.A495D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	495					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.A495D(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCGAAGTTGGCCATGTCGTC	0.532																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(1483-1485)GCC>GAC		ATP-binding cassette, sub-family A member 4							166.0	159.0	162.0					1																	94543316		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94543316G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1484C>A	1.37:g.94543316G>T	ENSP00000359245:p.Ala495Asp					ABCA4_uc010otn.1_Missense_Mutation_p.A495D	p.A495D	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	11	1588	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	495			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1484C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	3.149	-0.174682	0.06421	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91237	-2.71;-2.81	5.24	0.982	0.19762	.	0.517494	0.21425	N	0.074746	T	0.65637	0.2710	L	0.40543	1.245	0.19945	N	0.999947	B;B	0.14012	0.009;0.0	B;B	0.15484	0.013;0.001	T	0.52961	-0.8505	10	0.12766	T	0.61	.	2.5426	0.04730	0.2926:0.0:0.2828:0.4246	.	495;495	F5H6E5;P78363	.;ABCA4_HUMAN	D	495	ENSP00000359245:A495D;ENSP00000437682:A495D	ENSP00000359245:A495D	A	-	2	0	ABCA4	94315904	0.006000	0.16342	0.751000	0.31187	0.021000	0.10359	0.829000	0.27449	0.348000	0.23949	-0.753000	0.03488	GCC		PASS	0.532	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		22	149	22	149	---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97272495	97272495	+	Silent	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:97272495T>C	ENST00000426398.2	+	11	1195	c.1152T>C	c.(1150-1152)gaT>gaC	p.D384D	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000609116.1_Silent_p.D384D|PTBP2_ENST00000370197.1_Silent_p.D389D|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Silent_p.D400D|PTBP2_ENST00000370198.1_Silent_p.D389D	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	384	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D384D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGATGGCTGATGGAAACCAAT	0.353																																						uc001drq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1150-1152)GAT>GAC		polypyrimidine tract binding protein 2							122.0	121.0	121.0					1																	97272495		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97272495T>C	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1152T>C	1.37:g.97272495T>C						PTBP2_uc001drn.2_Silent_p.D389D|PTBP2_uc001dro.2_Silent_p.D384D|PTBP2_uc010otz.1_Silent_p.D400D|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.D332D|PTBP2_uc001drr.2_Silent_p.D389D|PTBP2_uc010oua.1_Silent_p.D392D|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Silent_p.D3D|PTBP2_uc001drt.2_Silent_p.D3D	p.D384D	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	11	1398	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	384			RRM 3.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.1152T>C	CCDS754.1																																																																																				PASS	0.353	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			16	80	16	80	---	---	---	---
SLC6A17	388662	broad.mit.edu	37	1	110714798	110714798	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:110714798A>G	ENST00000331565.4	+	3	888	c.403A>G	c.(403-405)Ata>Gta	p.I135V	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	135					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.I135V(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTGGCACTATATATGTCCCCG	0.632																																						uc009wfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(403-405)ATA>GTA		solute carrier family 6, member 17							40.0	32.0	35.0					1																	110714798		2202	4299	6501	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110714798A>G		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.403A>G	1.37:g.110714798A>G	ENSP00000330199:p.Ile135Val						p.I135V	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	3	864	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	135			Cytoplasmic (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.403A>G	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.573734	0.45902	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.76316	-1.01	5.09	4.18	0.49190	.	0.173034	0.50627	N	0.000107	T	0.50922	0.1644	L	0.49126	1.545	0.29328	N	0.866913	B	0.13145	0.007	B	0.19148	0.024	T	0.36915	-0.9728	10	0.21540	T	0.41	.	8.4697	0.32977	0.2542:0.0:0.7458:0.0	.	135	Q9H1V8	S6A17_HUMAN	V	135	ENSP00000330199:I135V	ENSP00000330199:I135V	I	+	1	0	SLC6A17	110516321	1.000000	0.71417	0.976000	0.42696	0.898000	0.52572	4.148000	0.58085	1.124000	0.41980	-0.221000	0.12465	ATA		PASS	0.632	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		5	10	5	10	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114483113	114483113	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:114483113G>T	ENST00000369558.1	+	2	340	c.108G>T	c.(106-108)caG>caT	p.Q36H	HIPK1_ENST00000369555.2_Missense_Mutation_p.Q36H|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q36H|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q36H|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q36H|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q36H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	36					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q36H(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCAGGACAGAGTAGCAACG	0.507																																						uc001eem.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(106-108)CAG>CAT		homeodomain-interacting protein kinase 1 isoform							221.0	237.0	232.0					1																	114483113		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483113G>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.108G>T	1.37:g.114483113G>T	ENSP00000358571:p.Gln36His					HIPK1_uc001eel.2_Missense_Mutation_p.Q36H|HIPK1_uc001een.2_Missense_Mutation_p.Q36H	p.Q36H	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	269	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	36					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.108G>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611123	0.28712	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.76;0.78;0.78;0.78;0.78;0.78;0.87;0.86	4.92	3.99	0.46301	.	0.092642	0.46442	D	0.000290	T	0.34424	0.0897	L	0.38175	1.15	0.80722	D	1	P;P	0.47191	0.651;0.891	B;P	0.48141	0.188;0.568	T	0.23619	-1.0183	10	0.54805	T	0.06	.	13.4822	0.61342	0.0769:0.0:0.9231:0.0	.	36;36	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	H	107;36;36;36;36;36;36;36;36	ENSP00000407442:Q107H;ENSP00000358572:Q36H;ENSP00000409673:Q36H;ENSP00000358567:Q36H;ENSP00000358568:Q36H;ENSP00000358571:Q36H;ENSP00000358574:Q36H;ENSP00000422322:Q36H;ENSP00000426695:Q36H	ENSP00000358567:Q36H	Q	+	3	2	HIPK1	114284636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.932000	0.56537	2.271000	0.75665	0.650000	0.86243	CAG		PASS	0.507	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		53	316	53	316	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117158964	117158964	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:117158964C>G	ENST00000369486.3	-	3	924	c.159G>C	c.(157-159)caG>caC	p.Q53H	IGSF3_ENST00000318837.6_Missense_Mutation_p.Q53H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Q53H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	53	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.Q53H(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTGGAAATTCTGCTCAGAAG	0.572																																						uc001egr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(157-159)CAG>CAC		immunoglobulin superfamily, member 3 isoform 2							29.0	29.0	29.0					1																	117158964		2202	4296	6498	SO:0001583	missense	3321					integral to membrane		g.chr1:117158964C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.159G>C	1.37:g.117158964C>G	ENSP00000358498:p.Gln53His					IGSF3_uc001egq.1_Missense_Mutation_p.Q53H	p.Q53H	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	864	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	53			Ig-like C2-type 1.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.159G>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780090	0.70222	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02606	4.23;4.23;4.23	4.65	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141333	0.49916	D	0.000134	T	0.13329	0.0323	M	0.89904	3.07	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.85130	0.997;0.993	T	0.00862	-1.1536	10	0.87932	D	0	-36.2074	15.0506	0.71865	0.0:1.0:0.0:0.0	.	53;53	O75054;A6NJZ6	IGSF3_HUMAN;.	H	53	ENSP00000358498:Q53H;ENSP00000358495:Q53H;ENSP00000321184:Q53H	ENSP00000321184:Q53H	Q	-	3	2	IGSF3	116960487	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	4.526000	0.60566	2.386000	0.81285	0.555000	0.69702	CAG		PASS	0.572	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		15	45	15	45	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145112437	145112437	+	RNA	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:145112437C>A	ENST00000453618.1	+	0	738							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ACCTAGGCTCCATCAACACTG	0.408																																						uc001eml.1																			0					0						c.(409-411)TCC>TCA		SEC22 vesicle trafficking protein homolog B							176.0	161.0	166.0					1																	145112437		2100	4224	6324			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145112437C>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145112437C>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.S137S	NM_004892	NP_004883	O75396	SC22B_HUMAN			6	551	+			137			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		A8K1G0	Silent	SNP	ENST00000453618.1	37	c.411C>A																																																																																					PASS	0.408	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		5	115	5	115	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145532483	145532483	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:145532483G>T	ENST00000369304.3	+	9	1111	c.936G>T	c.(934-936)caG>caT	p.Q312H	ITGA10_ENST00000538811.1_Missense_Mutation_p.Q181H|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q169H|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	312	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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.Q312H(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)					TCCGGCGGCAGCGAGATCCCA	0.478																																						uc001eoa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(934-936)CAG>CAT		integrin, alpha 10 precursor							124.0	119.0	121.0					1																	145532483		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145532483G>T	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.936G>T	1.37:g.145532483G>T	ENSP00000358310:p.Gln312His					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.Q181H|ITGA10_uc009wiw.2_Missense_Mutation_p.Q169H|ITGA10_uc010oyw.1_Missense_Mutation_p.Q257H	p.Q312H	NM_003637	NP_003628	O75578	ITA10_HUMAN			9	1012	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		312			VWFA.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.936G>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332222	0.41297	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.54675	0.56;0.56;0.56	5.12	3.16	0.36331	von Willebrand factor, type A (3);	0.258963	0.32987	N	0.005410	T	0.23806	0.0576	L	0.38175	1.15	0.47214	D	0.99935	B;B;B;B	0.14805	0.009;0.005;0.011;0.006	B;B;B;B	0.19391	0.02;0.013;0.025;0.022	T	0.10222	-1.0639	10	0.38643	T	0.18	.	8.6778	0.34189	0.086:0.0:0.7592:0.1549	.	278;181;169;312	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	H	312;278;169;181	ENSP00000358310:Q312H;ENSP00000439894:Q169H;ENSP00000440011:Q181H	ENSP00000358310:Q312H	Q	+	3	2	ITGA10	144243840	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	1.567000	0.36407	1.270000	0.44297	0.561000	0.74099	CAG		PASS	0.478	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		20	134	20	134	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154033493	154033493	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:154033493A>T	ENST00000368559.3	-	19	2744	c.2673T>A	c.(2671-2673)gaT>gaA	p.D891E	NUP210L_ENST00000271854.3_Missense_Mutation_p.D891E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	891					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.D891E(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCAGTTCCACATCTACAGATC	0.418																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2671-2673)GAT>GAA		nucleoporin 210kDa-like isoform 1							107.0	101.0	103.0					1																	154033493		1868	4099	5967	SO:0001583	missense	91181					integral to membrane		g.chr1:154033493A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2673T>A	1.37:g.154033493A>T	ENSP00000357547:p.Asp891Glu					NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.D891E	p.D891E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		19	2745	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		891					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2673T>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	8.002	0.755677	0.15846	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05925	3.64;3.37	5.02	-0.342	0.12635	.	0.735015	0.12122	N	0.497598	T	0.00967	0.0032	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.48281	-0.9049	10	0.17369	T	0.5	4.8058	3.3289	0.07077	0.332:0.447:0.0842:0.1369	.	891;891	E7EP56;Q5VU65	.;P210L_HUMAN	E	891	ENSP00000357547:D891E;ENSP00000271854:D891E	ENSP00000271854:D891E	D	-	3	2	NUP210L	152300117	0.172000	0.23043	0.103000	0.21229	0.060000	0.15804	-0.373000	0.07494	-0.219000	0.10003	0.374000	0.22700	GAT		PASS	0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		19	146	19	146	---	---	---	---
HCN3	57657	broad.mit.edu	37	1	155255711	155255711	+	Missense_Mutation	SNP	G	G	T	rs200412337		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:155255711G>T	ENST00000368358.3	+	6	1441	c.1433G>T	c.(1432-1434)cGc>cTc	p.R478L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	478					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R478L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCTGGCCCGCGGCGCCCGG	0.652																																						uc001fjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1432-1434)CGC>CTC		hyperpolarization activated cyclic							77.0	82.0	80.0					1																	155255711		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155255711G>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1433G>T	1.37:g.155255711G>T	ENSP00000357342:p.Arg478Leu					RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R173L	p.R478L	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	1441	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		478			Cytoplasmic (Potential).|cAMP.		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.1433G>T	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547841	0.86022	.	.	ENSG00000143630	ENST00000368358	D	0.96651	-4.08	5.46	4.53	0.55603	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.51477	D	0.000097	D	0.95765	0.8622	L	0.53780	1.695	0.58432	D	0.999993	P;P	0.43938	0.822;0.529	P;P	0.54965	0.765;0.561	D	0.95558	0.8627	10	0.66056	D	0.02	.	11.5886	0.50933	0.0865:0.0:0.9135:0.0	.	173;478	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	L	478	ENSP00000357342:R478L	ENSP00000357342:R478L	R	+	2	0	HCN3	153522335	1.000000	0.71417	0.845000	0.33349	0.916000	0.54674	5.263000	0.65507	2.724000	0.93272	0.561000	0.74099	CGC		PASS	0.652	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		29	124	29	124	---	---	---	---
GPATCH4	54865	broad.mit.edu	37	1	156568034	156568034	+	Silent	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:156568034T>A	ENST00000438976.2	-	4	276	c.246A>T	c.(244-246)gtA>gtT	p.V82V	GPATCH4_ENST00000368232.4_Silent_p.V77V|GPATCH4_ENST00000334588.7_Silent_p.V31V|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	77							poly(A) RNA binding (GO:0044822)	p.V77V(1)		autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGTTTCCACTACCAAGTTGG	0.517																																						uc001fpm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(244-246)GTA>GTT		G patch domain containing 4 isoform 1							264.0	257.0	259.0					1																	156568034		2203	4300	6503	SO:0001819	synonymous_variant	54865					intracellular	nucleic acid binding	g.chr1:156568034T>A	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.246A>T	1.37:g.156568034T>A						GPATCH4_uc001fpl.2_Silent_p.V77V	p.V82V	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN			4	285	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		77					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Silent	SNP	ENST00000438976.2	37	c.246A>T	CCDS44245.1																																																																																				PASS	0.517	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		40	253	40	253	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157804395	157804395	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:157804395C>A	ENST00000368174.4	-	4	616	c.520G>T	c.(520-522)Gtg>Ttg	p.V174L	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	174	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.V174M(1)|p.V174L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGGCACACCACCTTTGCGGCC	0.607																																						uc001frk.3																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(1)	1						c.(520-522)GTG>TTG		CD5 molecule-like precursor							89.0	85.0	86.0					1																	157804395		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804395C>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.520G>T	1.37:g.157804395C>A	ENSP00000357156:p.Val174Leu						p.V174L	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	663	-	all_hematologic(112;0.0378)		174			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.520G>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812247	0.90707	.	.	ENSG00000073754	ENST00000368174	T	0.46451	0.87	5.13	5.13	0.70059	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.43110	D	0.000612	T	0.73118	0.3546	H	0.97659	4.05	0.45502	D	0.998462	D	0.71674	0.998	D	0.72075	0.976	T	0.82906	-0.0225	10	0.87932	D	0	.	16.1249	0.81386	0.0:1.0:0.0:0.0	.	174	O43866	CD5L_HUMAN	L	174	ENSP00000357156:V174L	ENSP00000357156:V174L	V	-	1	0	CD5L	156071019	1.000000	0.71417	0.996000	0.52242	0.471000	0.32888	5.478000	0.66806	2.661000	0.90470	0.655000	0.94253	GTG		PASS	0.607	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		5	107	5	107	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158669890	158669890	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:158669890G>T	ENST00000359610.2	-	1	596	c.553C>A	c.(553-555)Cgt>Agt	p.R185S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R185S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAGGCCAGACGCAGCACTGGG	0.478																																						uc001fsu.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(553-555)CGT>AGT		olfactory receptor, family 6, subfamily K,							135.0	113.0	121.0					1																	158669890		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669890G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.553C>A	1.37:g.158669890G>T	ENSP00000352626:p.Arg185Ser						p.R185S	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	553	-	all_hematologic(112;0.0378)		185			Extracellular (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.553C>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	1.391	-0.580679	0.03854	.	.	ENSG00000196171	ENST00000359610	T	0.00069	8.77	5.09	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000731	T	0.00039	0.0001	N	0.16233	0.39	0.09310	N	1	B	0.24618	0.107	B	0.24155	0.051	T	0.02676	-1.1125	10	0.18276	T	0.48	-8.0287	8.4965	0.33132	0.0:0.1403:0.4384:0.4212	.	185	Q8NGY2	OR6K2_HUMAN	S	185	ENSP00000352626:R185S	ENSP00000352626:R185S	R	-	1	0	OR6K2	156936514	0.000000	0.05858	0.995000	0.50966	0.995000	0.86356	0.488000	0.22371	0.698000	0.31739	0.655000	0.94253	CGT		PASS	0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		6	99	6	99	---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166991004	166991004	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:166991004A>G	ENST00000367872.4	+	12	1461	c.1217A>G	c.(1216-1218)aAt>aGt	p.N406S	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.N375S	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	406					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.N406S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCTTCCAGCAATATCCACAAA	0.423																																						uc001gdy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1216-1218)AAT>AGT		maelstrom homolog							144.0	139.0	141.0					1																	166991004		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166991004A>G	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1217A>G	1.37:g.166991004A>G	ENSP00000356846:p.Asn406Ser					MAEL_uc001gdz.1_Missense_Mutation_p.N375S|MAEL_uc009wvf.1_RNA	p.N406S	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			12	1288	+			406					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1217A>G	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	A	9.507	1.104693	0.20632	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.43688	0.94;0.95	5.04	-1.5	0.08691	.	0.611892	0.16290	N	0.220923	T	0.07458	0.0188	N	0.14661	0.345	0.22896	N	0.998597	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41305	-0.9516	10	0.17369	T	0.5	.	9.3208	0.37964	0.5037:0.0:0.4963:0.0	.	375;406	E9JVC3;Q96JY0	.;MAEL_HUMAN	S	406;375;128	ENSP00000356846:N406S;ENSP00000356844:N375S	ENSP00000356844:N375S	N	+	2	0	MAEL	165257628	0.017000	0.18338	0.663000	0.29738	0.996000	0.88848	0.005000	0.13129	-0.152000	0.11156	0.533000	0.62120	AAT		PASS	0.423	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		20	81	20	81	---	---	---	---
DCAF6	55827	broad.mit.edu	37	1	168037687	168037687	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:168037687A>G	ENST00000312263.6	+	18	2708	c.2504A>G	c.(2503-2505)aAt>aGt	p.N835S	DCAF6_ENST00000367840.3_Missense_Mutation_p.N926S|DCAF6_ENST00000367843.3_Missense_Mutation_p.N855S|DCAF6_ENST00000432587.2_Missense_Mutation_p.N895S	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	835					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.N855S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GCTTCACTTAATCATATCCGA	0.333																																						uc001gew.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2503-2505)AAT>AGT		IQ motif and WD repeats 1 isoform b							111.0	101.0	104.0					1																	168037687		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168037687A>G	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2504A>G	1.37:g.168037687A>G	ENSP00000311949:p.Asn835Ser					DCAF6_uc001gev.2_Missense_Mutation_p.N855S|DCAF6_uc001gex.2_Missense_Mutation_p.N926S|DCAF6_uc010plk.1_Missense_Mutation_p.N895S|DCAF6_uc001gey.2_Missense_Mutation_p.N708S|DCAF6_uc001gez.2_Missense_Mutation_p.N138S	p.N835S	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			18	2746	+			835					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.2504A>G	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263197	0.59431	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.81996	-1.52;0.19;-1.53;-1.56	5.7	5.7	0.88788	.	0.097958	0.64402	D	0.000002	T	0.76076	0.3937	L	0.61218	1.895	0.42222	D	0.991859	B;B;B;P;B	0.38617	0.002;0.054;0.005;0.64;0.011	B;B;B;B;B	0.40285	0.004;0.057;0.008;0.325;0.031	T	0.77219	-0.2668	9	0.30854	T	0.27	.	15.9644	0.79956	1.0:0.0:0.0:0.0	.	895;508;926;835;855	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	S	855;895;835;926	ENSP00000356817:N855S;ENSP00000396238:N895S;ENSP00000311949:N835S;ENSP00000356814:N926S	ENSP00000311949:N835S	N	+	2	0	DCAF6	166304311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.734000	0.91543	2.170000	0.68504	0.482000	0.46254	AAT		PASS	0.333	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		3	45	3	45	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171765854	171765854	+	Silent	SNP	G	G	T	rs61733151	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:171765854G>T	ENST00000361735.3	+	8	2324	c.2058G>T	c.(2056-2058)acG>acT	p.T686T	METTL13_ENST00000458517.1_Silent_p.T685T|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.T530T|METTL13_ENST00000362019.3_Silent_p.T600T	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	686							methyltransferase activity (GO:0008168)	p.T686T(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGGATGACACGTATGTCTTGT	0.557																																						uc001ghz.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(2056-2058)ACG>ACT		CGI-01 protein isoform 1							114.0	118.0	116.0					1																	171765854		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171765854G>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.2058G>T	1.37:g.171765854G>T						METTL13_uc001gia.2_Silent_p.T600T|METTL13_uc001gib.2_Silent_p.T530T|METTL13_uc010pml.1_Silent_p.T685T|METTL13_uc001gic.1_RNA	p.T686T	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			8	2405	+			686					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.2058G>T	CCDS1299.1																																																																																				PASS	0.557	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		32	102	32	102	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563806	176563806	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:176563806C>A	ENST00000367662.3	+	3	2230	c.1066C>A	c.(1066-1068)Cac>Aac	p.H356N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.H356N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	356					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.H356N(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						CTTGATTAGCCACAGTCGCTA	0.582																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1066-1068)CAC>AAC		pappalysin 2 isoform 1							60.0	63.0	62.0					1																	176563806		2120	4234	6354	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563806C>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.1066C>A	1.37:g.176563806C>A	ENSP00000356634:p.His356Asn					PAPPA2_uc001gky.1_Missense_Mutation_p.H356N|PAPPA2_uc009www.2_RNA	p.H356N	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2230	+			356					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1066C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973730	0.34848	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.72615	-0.67;-0.67	5.45	4.54	0.55810	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, subdomain 2 (1);	0.638170	0.17434	N	0.174363	T	0.65471	0.2694	L	0.45228	1.405	0.09310	N	1	B;D	0.54601	0.425;0.967	B;P	0.50082	0.223;0.63	T	0.57130	-0.7864	10	0.37606	T	0.19	-12.0394	4.5564	0.12138	0.1851:0.6317:0.0:0.1831	.	356;356	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	356	ENSP00000356634:H356N;ENSP00000356633:H356N	ENSP00000356633:H356N	H	+	1	0	PAPPA2	174830429	0.254000	0.23992	0.312000	0.25196	0.243000	0.25628	1.540000	0.36115	1.281000	0.44480	0.650000	0.86243	CAC		PASS	0.582	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			14	47	14	47	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179983508	179983508	+	Silent	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:179983508T>C	ENST00000367607.3	+	10	2338	c.1920T>C	c.(1918-1920)ttT>ttC	p.F640F		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	640					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F640F(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGAAGCCTTTACTAAAGTAA	0.423																																						uc001gnt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1918-1920)TTT>TTC		centrosome-associated protein 350							57.0	55.0	55.0					1																	179983508		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:179983508T>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1920T>C	1.37:g.179983508T>C						CEP350_uc009wxl.2_Silent_p.F639F|CEP350_uc001gnu.2_Silent_p.F474F	p.F640F	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			10	2303	+			640			Potential.		O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.1920T>C	CCDS1336.1																																																																																				PASS	0.423	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	8	3	8	---	---	---	---
ZNF648	127665	broad.mit.edu	37	1	182026487	182026487	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:182026487G>C	ENST00000339948.3	-	2	866	c.659C>G	c.(658-660)gCt>gGt	p.A220G		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	220					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.A220G(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GACCGCGGCAGCCAGGCTGGC	0.667																																					NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)GCT>GGT		zinc finger protein 648							18.0	22.0	20.0					1																	182026487		2198	4293	6491	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026487G>C	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.659C>G	1.37:g.182026487G>C	ENSP00000344129:p.Ala220Gly						p.A220G	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	867	-			220					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.659C>G	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355257	0.24512	.	.	ENSG00000179930	ENST00000339948	T	0.07688	3.17	2.37	1.4	0.22301	.	.	.	.	.	T	0.06371	0.0164	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.34925	-0.9809	9	0.44086	T	0.13	.	6.8241	0.23872	0.0:0.0:0.484:0.516	.	220	Q5T619	ZN648_HUMAN	G	220	ENSP00000344129:A220G	ENSP00000344129:A220G	A	-	2	0	ZNF648	180293110	0.000000	0.05858	0.009000	0.14445	0.047000	0.14425	0.488000	0.22371	0.507000	0.28148	0.655000	0.94253	GCT		PASS	0.667	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	26	3	26	---	---	---	---
TRMT1L	81627	broad.mit.edu	37	1	185094122	185094122	+	Silent	SNP	A	A	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:185094122A>C	ENST00000367506.5	-	12	1981	c.1713T>G	c.(1711-1713)ccT>ccG	p.P571P	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	571	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.P571P(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACTGACTTTGAGGCGTACACT	0.368																																						uc001grf.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1711-1713)CCT>CCG		N2,N2-dimethylguanosine tRNA							144.0	135.0	138.0					1																	185094122		2203	4300	6503	SO:0001819	synonymous_variant	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185094122A>C	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1713T>G	1.37:g.185094122A>C						C1orf25_uc010pon.1_Silent_p.P415P	p.P571P	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			12	1985	-			571					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Silent	SNP	ENST00000367506.5	37	c.1713T>G	CCDS1366.1																																																																																				PASS	0.368	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		10	80	10	80	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185964039	185964039	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:185964039C>A	ENST00000271588.4	+	24	3827	c.3598C>A	c.(3598-3600)Cct>Act	p.P1200T	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1200T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1200	Ig-like C2-type 9.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.P1200T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACTCCTCTTCCTGTAATCAC	0.468																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(3598-3600)CCT>ACT		hemicentin 1 precursor							136.0	125.0	129.0					1																	185964039		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185964039C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3598C>A	1.37:g.185964039C>A	ENSP00000271588:p.Pro1200Thr						p.P1200T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			24	3827	+			1200			Ig-like C2-type 9.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3598C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513156	0.64522	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73258	-0.73;-0.73	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89139	0.6630	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91667	0.5347	10	0.72032	D	0.01	.	19.4396	0.94813	0.0:1.0:0.0:0.0	.	1200	Q96RW7	HMCN1_HUMAN	T	1200	ENSP00000271588:P1200T;ENSP00000356462:P1200T	ENSP00000271588:P1200T	P	+	1	0	HMCN1	184230662	1.000000	0.71417	0.461000	0.27105	0.184000	0.23303	5.476000	0.66793	2.652000	0.90054	0.650000	0.86243	CCT		PASS	0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		19	102	19	102	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186287912	186287912	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:186287912G>A	ENST00000367478.4	-	47	6913	c.6617C>T	c.(6616-6618)tCa>tTa	p.S2206L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2206					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.S2206L(1)|p.S2193L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCGGCCACCTGACTCTTCTTC	0.388			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(6616-6618)TCA>TTA		nuclear pore complex-associated protein TPR							126.0	121.0	123.0					1																	186287912		1865	4107	5972	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186287912G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6617C>T	1.37:g.186287912G>A	ENSP00000356448:p.Ser2206Leu						p.S2206L	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	47	6914	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2206					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6617C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331087	0.95733	.	.	ENSG00000047410	ENST00000367478	T	0.25749	1.78	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.55438	-0.8141	10	0.72032	D	0.01	.	19.0737	0.93150	0.0:0.0:1.0:0.0	.	2206	P12270	TPR_HUMAN	L	2206	ENSP00000356448:S2206L	ENSP00000356448:S2206L	S	-	2	0	TPR	184554535	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.634000	0.83273	2.494000	0.84150	0.563000	0.77884	TCA		PASS	0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		24	149	24	149	---	---	---	---
RGS13	6003	broad.mit.edu	37	1	192617069	192617069	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:192617069G>A	ENST00000391995.2	+	5	367	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	RGS13_ENST00000543215.1_Missense_Mutation_p.E27K|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	27					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E27K(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						TACTTTGGAGGAAGTATTACA	0.328																																						uc001gsj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(79-81)GAA>AAA		regulator of G-protein signalling 13							147.0	155.0	153.0					1																	192617069		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192617069G>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.79G>A	1.37:g.192617069G>A	ENSP00000375853:p.Glu27Lys					RGS13_uc001gsk.2_Missense_Mutation_p.E27K	p.E27K	NM_002927	NP_002918	O14921	RGS13_HUMAN			5	360	+			27					Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.79G>A	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640703	0.87859	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.30448	1.53;1.53	5.65	5.65	0.86999	Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.098933	0.64402	D	0.000002	T	0.43590	0.1254	L	0.29908	0.895	0.47245	D	0.999367	D	0.76494	0.999	D	0.69307	0.963	T	0.31110	-0.9955	10	0.87932	D	0	.	15.5749	0.76368	0.0:0.0:1.0:0.0	.	27	O14921	RGS13_HUMAN	K	27	ENSP00000375853:E27K;ENSP00000442837:E27K	ENSP00000375853:E27K	E	+	1	0	RGS13	190883692	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	4.986000	0.63851	2.821000	0.97095	0.650000	0.86243	GAA		PASS	0.328	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		10	127	10	127	---	---	---	---
CD34	947	broad.mit.edu	37	1	208061216	208061216	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:208061216C>A	ENST00000310833.7	-	8	1346	c.1025G>T	c.(1024-1026)gGa>gTa	p.G342V	CD34_ENST00000485761.1_Intron|CD34_ENST00000356522.4_3'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.G184V|CD34_ENST00000537704.1_Missense_Mutation_p.G207V	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	342					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.G342V(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGTCCCAGGTCCTGAGCTATA	0.562																																						uc001hgw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1024-1026)GGA>GTA		CD34 antigen isoform a							68.0	60.0	63.0					1																	208061216		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208061216C>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.1025G>T	1.37:g.208061216C>A	ENSP00000310036:p.Gly342Val					CD34_uc001hgv.1_Missense_Mutation_p.G184V|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Missense_Mutation_p.G207V	p.G342V	NM_001025109	NP_001020280	P28906	CD34_HUMAN			8	1283	-			342			Cytoplasmic (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.1025G>T	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977035	0.74360	.	.	ENSG00000174059	ENST00000310833;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T	0.22945	1.93;1.93;1.93	4.93	4.93	0.64822	.	0.402566	0.22357	N	0.061128	T	0.48352	0.1495	M	0.68317	2.08	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.974;0.993;0.974	T	0.42749	-0.9433	10	0.51188	T	0.08	-9.0182	14.0094	0.64486	0.0:1.0:0.0:0.0	.	207;342;184	B4DG27;P28906;Q5JTA5	.;CD34_HUMAN;.	V	342;184;207;312	ENSP00000310036:G342V;ENSP00000356003:G184V;ENSP00000442874:G207V	ENSP00000310036:G342V	G	-	2	0	CD34	206127839	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	1.780000	0.38634	2.444000	0.82710	0.555000	0.69702	GGA		PASS	0.562	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		5	48	5	48	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228468290	228468290	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:228468290C>T	ENST00000422127.1	+	30	8034	c.7990C>T	c.(7990-7992)Ctg>Ttg	p.L2664L	OBSCN_ENST00000359599.6_Silent_p.L1511L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L2664L|OBSCN_ENST00000570156.2_Silent_p.L3093L|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2664	Ig-like 26.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L2718L(1)|p.L2848L(1)|p.L2947L(1)|p.L2664L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCGGCACCCTGGCCCTGCA	0.642																																						uc009xez.1																			4	Substitution - coding silent(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(7990-7992)CTG>TTG		obscurin, cytoskeletal calmodulin and							52.0	60.0	57.0					1																	228468290		2172	4276	6448	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228468290C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7990C>T	1.37:g.228468290C>T						OBSCN_uc001hsn.2_Silent_p.L2664L|OBSCN_uc001hsp.1_Silent_p.L363L|OBSCN_uc001hsq.1_5'UTR	p.L2664L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			30	8034	+		Prostate(94;0.0405)	2664			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.7990C>T	CCDS58065.1																																																																																				PASS	0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	58	8	58	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237730049	237730049	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:237730049C>A	ENST00000366574.2	+	28	3714	c.3397C>A	c.(3397-3399)Cgt>Agt	p.R1133S	RYR2_ENST00000542537.1_Missense_Mutation_p.R1117S|RYR2_ENST00000360064.6_Missense_Mutation_p.R1131S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1133	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1131S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCAGATGAACGTGCCTTTGC	0.522																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3397-3399)CGT>AGT		cardiac muscle ryanodine receptor							196.0	195.0	196.0					1																	237730049		2090	4213	6303	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237730049C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3397C>A	1.37:g.237730049C>A	ENSP00000355533:p.Arg1133Ser						p.R1133S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3517	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1133			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3397C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711602	0.30322	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.59772	0.24;0.24;0.24	5.29	3.43	0.39272	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.829817	0.10249	N	0.697444	T	0.36717	0.0977	N	0.12887	0.27	0.80722	D	1	B	0.11235	0.004	B	0.17433	0.018	T	0.07102	-1.0790	10	0.15952	T	0.53	.	8.0898	0.30795	0.0:0.6781:0.167:0.155	.	1133	Q92736	RYR2_HUMAN	S	1133;1131;1117	ENSP00000355533:R1133S;ENSP00000353174:R1131S;ENSP00000443798:R1117S	ENSP00000353174:R1131S	R	+	1	0	RYR2	235796672	0.901000	0.30685	0.302000	0.25058	0.967000	0.64934	2.292000	0.43549	0.623000	0.30267	0.655000	0.94253	CGT		PASS	0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		50	194	50	194	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614672	247614672	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:247614672C>G	ENST00000318749.6	-	1	636	c.613G>C	c.(613-615)Gtg>Ctg	p.V205L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V205L(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCCACCAGCACAGCCAGTATG	0.577																																						uc010pyx.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(613-615)GTG>CTG		olfactory receptor, family 2, subfamily B,							62.0	65.0	64.0					1																	247614672		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614672C>G		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.613G>C	1.37:g.247614672C>G	ENSP00000325682:p.Val205Leu						p.V205L	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	613	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	205			Helical; Name=5; (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.613G>C	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495878	0.44352	.	.	ENSG00000177535	ENST00000318749	T	0.00193	8.58	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.136830	0.33180	N	0.005191	T	0.00178	0.0005	L	0.31371	0.925	0.18873	N	0.999986	B	0.23128	0.08	B	0.23852	0.049	T	0.36866	-0.9730	10	0.48119	T	0.1	.	11.8599	0.52459	0.0:0.9148:0.0:0.0852	.	205	Q5JQS5	OR2BB_HUMAN	L	205	ENSP00000325682:V205L	ENSP00000325682:V205L	V	-	1	0	OR2B11	245681295	0.000000	0.05858	0.821000	0.32701	0.776000	0.43924	-1.163000	0.03138	1.520000	0.48965	0.643000	0.83706	GTG		PASS	0.577	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		7	26	7	26	---	---	---	---
OR2C3	81472	broad.mit.edu	37	1	247695546	247695546	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:247695546G>T	ENST00000366487.3	-	2	629	c.268C>A	c.(268-270)Cag>Aag	p.Q90K	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q89K(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ATGGTTTTCTGTGGTCCCCAG	0.547																																						uc009xgy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(268-270)CAG>AAG		olfactory receptor, family 2, subfamily C,							97.0	95.0	96.0					1																	247695546		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695546G>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.268C>A	1.37:g.247695546G>T	ENSP00000355443:p.Gln90Lys					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.Q90K	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	630	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	90			Extracellular (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.268C>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	9.080	0.999162	0.19121	.	.	ENSG00000196242	ENST00000366487	T	0.01335	5.0	4.04	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.495334	0.14734	U	0.301566	T	0.00637	0.0021	N	0.00823	-1.155	0.09310	N	1	B	0.18461	0.028	B	0.19148	0.024	T	0.48937	-0.8990	10	0.27785	T	0.31	.	9.846	0.41028	0.0:0.4097:0.5903:0.0	.	90	Q8N628	OR2C3_HUMAN	K	90	ENSP00000355443:Q90K	ENSP00000355443:Q90K	Q	-	1	0	OR2C3	245762169	0.000000	0.05858	0.765000	0.31456	0.645000	0.38454	-1.375000	0.02563	1.029000	0.39812	0.650000	0.86243	CAG		PASS	0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		18	54	18	54	---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248059679	248059679	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr1:248059679C>A	ENST00000360358.3	+	1	791	c.791C>A	c.(790-792)gCc>gAc	p.A264D	OR2W3_ENST00000537741.1_Missense_Mutation_p.A264D	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A264D(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGCCAGGAGCCAGTTCTTCC	0.532																																						uc001idp.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(790-792)GCC>GAC		olfactory receptor, family 2, subfamily W,							123.0	114.0	117.0					1																	248059679		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059679C>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.791C>A	1.37:g.248059679C>A	ENSP00000353516:p.Ala264Asp					OR2W3_uc010pzb.1_Missense_Mutation_p.A264D	p.A264D	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	1060	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		264			Extracellular (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.791C>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	C	6.027	0.373434	0.11409	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00152	8.66;8.66	5.29	-5.89	0.02282	GPCR, rhodopsin-like superfamily (1);	0.717261	0.13395	N	0.391067	T	0.00109	0.0003	L	0.43757	1.38	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.24977	-1.0145	10	0.42905	T	0.14	.	11.1775	0.48607	0.1749:0.6134:0.2117:0.0	.	264	Q7Z3T1	OR2W3_HUMAN	D	264	ENSP00000445853:A264D;ENSP00000353516:A264D	ENSP00000353516:A264D	A	+	2	0	OR2W3	246126302	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.736000	0.04882	-0.783000	0.04534	-1.263000	0.01449	GCC		PASS	0.532	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		11	103	11	103	---	---	---	---
FAM110C	642273	broad.mit.edu	37	2	46014	46014	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:46014C>G	ENST00000327669.4	-	1	371	c.372G>C	c.(370-372)aaG>aaC	p.K124N		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	124					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)	p.K124N(1)		central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GGAAGAGCTTCTTCACCAGGC	0.682																																						uc010yim.1																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)AAG>AAC		hypothetical protein LOC642273							20.0	21.0	21.0					2																	46014		1887	4075	5962	SO:0001583	missense	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:46014C>G	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.372G>C	2.37:g.46014C>G	ENSP00000328347:p.Lys124Asn						p.K124N	NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	372	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	124						Missense_Mutation	SNP	ENST00000327669.4	37	c.372G>C	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650167	0.67472	.	.	ENSG00000184731	ENST00000327669	T	0.32988	1.43	4.08	4.08	0.47627	.	2.826390	0.01234	N	0.008449	T	0.32194	0.0821	N	0.14661	0.345	0.25251	N	0.989673	D	0.58620	0.983	P	0.47864	0.559	T	0.52026	-0.8630	10	0.62326	D	0.03	.	14.1597	0.65438	0.0:1.0:0.0:0.0	.	124	Q1W6H9	F110C_HUMAN	N	124	ENSP00000328347:K124N	ENSP00000328347:K124N	K	-	3	2	FAM110C	36014	1.000000	0.71417	0.444000	0.26895	0.828000	0.46876	1.708000	0.37899	1.963000	0.57068	0.449000	0.29647	AAG		PASS	0.682	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		9	17	9	17	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15307178	15307178	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:15307178C>A	ENST00000281513.5	-	52	7135	c.7110G>T	c.(7108-7110)tgG>tgT	p.W2370C	NBAS_ENST00000441750.1_Missense_Mutation_p.W2250C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2370					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.W2370C(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCCCTCACACCCAGTGCTGTG	0.582																																						uc002rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(7108-7110)TGG>TGT		neuroblastoma-amplified protein							41.0	45.0	44.0					2																	15307178		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15307178C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.7110G>T	2.37:g.15307178C>A	ENSP00000281513:p.Trp2370Cys					NBAS_uc002rcb.1_Missense_Mutation_p.W210C|NBAS_uc010exl.1_Missense_Mutation_p.W1442C|NBAS_uc002rcd.1_RNA	p.W2370C	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			52	7136	-			2370					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.7110G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.82|16.82	3.227963|3.227963	0.58777|0.58777	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000433283	.|T;T	.|0.34667	.|1.35;1.66	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.056155	.|0.85682	.|D	.|0.000000	T|T	0.61776|0.61776	0.2374|0.2374	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	T|T	0.64546|0.64546	-0.6382|-0.6382	5|10	.|0.87932	.|D	.|0	.|.	18.352|18.352	0.90342|0.90342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2250;2370	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	V|C	1418|2250;2370;183	.|ENSP00000413201:W2250C;ENSP00000281513:W2370C	.|ENSP00000281513:W2370C	G|W	-|-	2|3	0|0	NBAS|NBAS	15224629|15224629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.198000|0.198000	0.23893|0.23893	7.223000|7.223000	0.78033|0.78033	2.570000|2.570000	0.86706|0.86706	0.655000|0.655000	0.94253|0.94253	GGG|TGG		PASS	0.582	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		23	60	23	60	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24098700	24098700	+	Splice_Site	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:24098700T>A	ENST00000238789.5	-	8	1319	c.976A>T	c.(976-978)Agg>Tgg	p.R326W		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	326						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.R326W(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACCTTACCTAATATGGCTT	0.333																																						uc002rek.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(976-978)AGG>TGG		ATPase family, AAA domain containing 2B							92.0	85.0	87.0					2																	24098700		1831	4093	5924	SO:0001630	splice_region_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24098700T>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.977+1A>T	2.37:g.24098700T>A						ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.R340W	p.R326W	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			8	1270	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		326					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.976A>T	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986718	0.74589	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.92647	-3.08;0.7	4.55	4.55	0.56014	.	.	.	.	.	D	0.94545	0.8243	M	0.66939	2.045	0.58432	D	0.999991	D;D	0.76494	0.999;0.997	D;D	0.72338	0.977;0.912	D	0.94556	0.7758	9	0.72032	D	0.01	.	10.4473	0.44501	0.0:0.0:0.1635:0.8365	.	340;326	C9JG15;Q9ULI0	.;ATD2B_HUMAN	W	326;178;340	ENSP00000238789:R326W;ENSP00000403177:R340W	ENSP00000238789:R326W	R	-	1	2	ATAD2B	23952204	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.138000	0.58017	1.991000	0.58162	0.374000	0.22700	AGG		PASS	0.333	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	Missense_Mutation	3	30	3	30	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27802601	27802601	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:27802601T>A	ENST00000408964.2	+	1	3213	c.3162T>A	c.(3160-3162)agT>agA	p.S1054R	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1054						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.S1054R(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)					ACTCACAGAGTGATTCCCAGA	0.468																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(3160-3162)AGT>AGA		hypothetical protein LOC84226							119.0	122.0	121.0					2																	27802601		2008	4192	6200	SO:0001583	missense	84226							g.chr2:27802601T>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.3162T>A	2.37:g.27802601T>A	ENSP00000386190:p.Ser1054Arg						p.S1054R	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	3213	+	Acute lymphoblastic leukemia(172;0.155)		1054					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3162T>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	T	1.053	-0.675376	0.03378	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	4.36	-2.93	0.05598	.	.	.	.	.	T	0.03608	0.0103	N	0.24115	0.695	0.09310	N	1	B	0.20550	0.046	B	0.22152	0.038	T	0.44436	-0.9328	9	0.52906	T	0.07	.	0.8568	0.01184	0.1676:0.2197:0.3429:0.2699	.	1054	Q68DN1	CB016_HUMAN	R	1054	ENSP00000386190:S1054R	ENSP00000386190:S1054R	S	+	3	2	C2orf16	27656105	0.001000	0.12720	0.035000	0.18076	0.004000	0.04260	-0.189000	0.09629	-0.403000	0.07622	-0.644000	0.03951	AGT		PASS	0.468	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		49	150	49	150	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32476479	32476479	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:32476479G>T	ENST00000404025.2	-	5	942	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.L152M|NLRC4_ENST00000402280.1_Missense_Mutation_p.L152M			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	152	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.L152M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCAGGGTCAGCTGCTCCACG	0.517																																						uc002roi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(454-456)CTG>ATG		caspase recruitment domain protein 12							66.0	63.0	64.0					2																	32476479		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476479G>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.454C>A	2.37:g.32476479G>T	ENSP00000385090:p.Leu152Met					NLRC4_uc002roj.1_Missense_Mutation_p.L152M|NLRC4_uc010ezt.1_Intron	p.L152M	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	700	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		152					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.454C>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	7.797	0.712881	0.15306	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.28895	1.59;1.59;1.59	3.67	2.77	0.32553	.	0.186841	0.23821	N	0.044235	T	0.14614	0.0353	N	0.17082	0.46	0.29087	N	0.882306	B	0.32302	0.363	B	0.25291	0.059	T	0.11966	-1.0566	9	0.38643	T	0.18	-1.5726	5.9136	0.19041	0.1036:0.0:0.7047:0.1918	.	152	Q9NPP4	NLRC4_HUMAN	M	152	ENSP00000354159:L152M;ENSP00000385428:L152M;ENSP00000385090:L152M	ENSP00000354159:L152M	L	-	1	2	NLRC4	32329983	1.000000	0.71417	0.995000	0.50966	0.379000	0.30106	1.428000	0.34892	0.855000	0.35359	0.543000	0.68304	CTG		PASS	0.517	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		13	53	13	53	---	---	---	---
STON1	11037	broad.mit.edu	37	2	48809163	48809163	+	Missense_Mutation	SNP	C	C	G	rs554718083		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:48809163C>G	ENST00000406226.1	+	3	1586	c.1391C>G	c.(1390-1392)cCg>cGg	p.P464R	STON1_ENST00000309835.3_Missense_Mutation_p.P464R|STON1_ENST00000404752.1_Missense_Mutation_p.P464R|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P464R|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P464R|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P464R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P464R|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P464R	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	464	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.P464R(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTGAGTTGCCGAAGCGAGAT	0.368																																						uc010yol.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(1390-1392)CCG>CGG		stonin 1							119.0	125.0	123.0					2																	48809163		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809163C>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1391C>G	2.37:g.48809163C>G	ENSP00000384615:p.Pro464Arg					STON1_uc002rwo.3_Missense_Mutation_p.P464R|STON1_uc010fbm.2_Missense_Mutation_p.P464R|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P464R|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P464R	p.P464R	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1438	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	464					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1391C>G	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.462674	0.00171	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.3	1.48	0.22813	Clathrin adaptor, mu subunit, C-terminal (3);	0.369917	0.31872	N	0.006933	T	0.08626	0.0214	N	0.03608	-0.345	0.22127	N	0.999341	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.26258	-1.0108	10	0.62326	D	0.03	.	8.0528	0.30587	0.6181:0.2434:0.0:0.1384	.	464;464;464	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	R	464	ENSP00000385273:P464R;ENSP00000384615:P464R;ENSP00000310969:P464R;ENSP00000385499:P464R;ENSP00000385701:P464R;ENSP00000378236:P464R;ENSP00000311493:P464R;ENSP00000378234:P464R	ENSP00000310969:P464R	P	+	2	0	STON1-GTF2A1L;STON1	48662667	1.000000	0.71417	0.999000	0.59377	0.152000	0.21847	2.428000	0.44749	0.078000	0.16900	-3.294000	0.00046	CCG		PASS	0.368	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		40	129	40	129	---	---	---	---
MRPL19	9801	broad.mit.edu	37	2	75874342	75874342	+	Missense_Mutation	SNP	G	G	A	rs370208064		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:75874342G>A	ENST00000393909.2	+	2	243	c.218G>A	c.(217-219)cGc>cAc	p.R73H	MRPL19_ENST00000409374.1_Missense_Mutation_p.R73H|MRPL19_ENST00000358788.6_Missense_Mutation_p.R73H	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	73					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.R73H(1)		kidney(1)|large_intestine(1)|lung(6)	8						GAACCGGAACGCAGGTGAGGC	0.706																																						uc002snl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)CGC>CAC		mitochondrial ribosomal protein L19 precursor		G	HIS/ARG	0,3864		0,0,1932	15.0	20.0	18.0		218	0.7	0.0	2		18	1,8233		0,1,4116	no	missense	MRPL19	NM_014763.3	29	0,1,6048	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging	73/293	75874342	1,12097	1932	4117	6049	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75874342G>A	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.218G>A	2.37:g.75874342G>A	ENSP00000377486:p.Arg73His					MRPL19_uc002snm.1_Missense_Mutation_p.R73H	p.R73H	NM_014763	NP_055578	P49406	RM19_HUMAN			2	243	+			73					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.218G>A	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564377	0.45694	0.0	1.21E-4	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.1	0.695	0.18070	.	0.407986	0.22591	N	0.058095	T	0.41858	0.1177	L	0.59436	1.845	0.09310	N	1	D	0.53151	0.958	P	0.47744	0.556	T	0.34054	-0.9844	9	0.59425	D	0.04	-0.3493	8.8743	0.35337	0.0935:0.4555:0.451:0.0	.	73	P49406	RM19_HUMAN	H	73	.	ENSP00000351639:R73H	R	+	2	0	MRPL19	75727850	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.673000	0.25203	-0.093000	0.12396	-0.310000	0.09108	CGC		PASS	0.706	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		4	6	4	6	---	---	---	---
THNSL2	55258	broad.mit.edu	37	2	88474167	88474167	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:88474167A>T	ENST00000324166.5	+	2	1924	c.233A>T	c.(232-234)gAc>gTc	p.D78V	THNSL2_ENST00000449349.1_Missense_Mutation_p.D46V|THNSL2_ENST00000358591.2_Missense_Mutation_p.D78V|THNSL2_ENST00000402102.1_Missense_Mutation_p.D78V|THNSL2_ENST00000377254.3_Missense_Mutation_p.D78V|THNSL2_ENST00000343544.4_Missense_Mutation_p.D78V	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	78					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.D78V(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GATCTGATCGACCGAGCCTTC	0.517																																						uc002ssz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(232-234)GAC>GTC		threonine synthase-like 2							143.0	121.0	128.0					2																	88474167		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88474167A>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.233A>T	2.37:g.88474167A>T	ENSP00000327323:p.Asp78Val					THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.D78V|THNSL2_uc002ssx.3_Missense_Mutation_p.D46V|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.D78V|THNSL2_uc010fhe.2_5'UTR	p.D78V	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			3	386	+			78					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.233A>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273647	0.59649	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000419759;ENST00000449349;ENST00000343544;ENST00000324166	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.79	4.62	0.57501	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.274722	0.39834	N	0.001253	T	0.50735	0.1633	M	0.86805	2.84	0.37207	D	0.904643	P;P;D	0.54964	0.846;0.948;0.969	B;P;P	0.54499	0.372;0.467;0.754	T	0.64118	-0.6482	10	0.52906	T	0.07	.	11.2737	0.49155	0.9276:0.0:0.0724:0.0	.	78;46;78	Q86YJ6;C9JU10;Q86YJ6-2	THNS2_HUMAN;.;.	V	78;78;78;78;46;78;78	ENSP00000351402:D78V;ENSP00000366464:D78V;ENSP00000384475:D78V;ENSP00000391300:D78V;ENSP00000407553:D46V;ENSP00000339563:D78V;ENSP00000327323:D78V	ENSP00000327323:D78V	D	+	2	0	THNSL2	88255282	0.232000	0.23762	0.255000	0.24374	0.936000	0.57629	1.858000	0.39408	2.208000	0.71279	0.459000	0.35465	GAC		PASS	0.517	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		22	90	22	90	---	---	---	---
KCNIP3	30818	broad.mit.edu	37	2	96040090	96040090	+	Silent	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:96040090A>G	ENST00000295225.5	+	3	363	c.228A>G	c.(226-228)ccA>ccG	p.P76P	KCNIP3_ENST00000360990.3_Silent_p.P76P|KCNIP3_ENST00000468529.1_Silent_p.P50P|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	76	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)	p.P76P(1)|p.P50P(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GCCACCAGCCAGAGGGGCTGG	0.597																																						uc002sup.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)	3						c.(226-228)CCA>CCG		Kv channel interacting protein 3 isoform 1							72.0	70.0	71.0					2																	96040090		2203	4300	6503	SO:0001819	synonymous_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96040090A>G	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.228A>G	2.37:g.96040090A>G						KCNIP3_uc002suq.2_Silent_p.P50P	p.P76P	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	3	343	+			76			EF-hand 1; degenerate.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	37	c.228A>G	CCDS2013.1																																																																																				PASS	0.597	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		11	55	11	55	---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781416	96781416	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:96781416G>A	ENST00000409345.3	-	1	568	c.473C>T	c.(472-474)cCg>cTg	p.P158L		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	158					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.P158L(2)|p.P158Q(2)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCGCCCGCGCGGCTGGGGGCC	0.637																																						uc002svi.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)	3						c.(472-474)CCG>CTG		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						26.0	32.0	30.0					2																	96781416		2091	4200	6291	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781416G>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.473C>T	2.37:g.96781416G>A	ENSP00000387281:p.Pro158Leu						p.P158L	NM_000682	NP_000673	P18089	ADA2B_HUMAN			1	473	-			158			Extracellular (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.473C>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269581	0.40095	.	.	ENSG00000222040	ENST00000409345	T	0.71698	-0.59	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.68751	0.3035	M	0.69185	2.1	0.44194	D	0.997014	B	0.30021	0.265	B	0.26202	0.067	T	0.72191	-0.4365	9	0.66056	D	0.02	.	15.137	0.72576	0.0:0.0:1.0:0.0	.	158	P18089	ADA2B_HUMAN	L	158	ENSP00000387281:P158L	ENSP00000387281:P158L	P	-	2	0	ADRA2B	96145143	0.012000	0.17670	0.995000	0.50966	0.948000	0.59901	1.880000	0.39628	2.420000	0.82092	0.456000	0.33151	CCG		PASS	0.637	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			8	35	8	35	---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98177127	98177127	+	RNA	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:98177127C>T	ENST00000443455.1	-	0	976							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TGCAAAATTACCTGTCCCAGA	0.373																																						uc010yvc.1																			0					0						c.e8+1		ankyrin repeat domain 36B							80.0	87.0	85.0					2																	98177127		1078	2266	3344			57730							g.chr2:98177127C>T	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177127C>T						ANKRD36B_uc010yve.1_Splice_Site|ANKRD36B_uc010fif.2_Splice_Site	p.V289_splice	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN			8	1145	-								Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Splice_Site	SNP	ENST00000443455.1	37	c.865_splice																																																																																					PASS	0.373	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		14	105	14	105	---	---	---	---
INPP4A	3631	broad.mit.edu	37	2	99180045	99180045	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:99180045C>A	ENST00000523221.1	+	17	1988	c.1988C>A	c.(1987-1989)aCc>aAc	p.T663N	INPP4A_ENST00000545415.1_Missense_Mutation_p.T624N|INPP4A_ENST00000409016.4_Missense_Mutation_p.T624N|INPP4A_ENST00000409851.3_Missense_Mutation_p.T658N|INPP4A_ENST00000409540.3_Missense_Mutation_p.T624N|INPP4A_ENST00000074304.5_Missense_Mutation_p.T663N|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	663					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.T663N(2)|p.T624N(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGCGCGCCCACCATAGCCACC	0.632																																						uc002syy.2																			3	Substitution - Missense(3)		lung(3)	kidney(1)	1						c.(1987-1989)ACC>AAC		inositol polyphosphate-4-phosphatase, type 1							46.0	54.0	51.0					2																	99180045		2107	4212	6319	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99180045C>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1988C>A	2.37:g.99180045C>A	ENSP00000427722:p.Thr663Asn					INPP4A_uc010yvj.1_Missense_Mutation_p.T624N|INPP4A_uc010yvk.1_Missense_Mutation_p.T624N|INPP4A_uc002syx.2_Missense_Mutation_p.T658N|INPP4A_uc010fik.2_Intron	p.T663N	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			19	2381	+			663					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1988C>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023798	0.93462	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	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	0.996;0.997;0.999;0.999	T	0.01409	-1.1362	10	0.21540	T	0.41	-32.3672	18.455	0.90717	0.0:1.0:0.0:0.0	.	624;624;663;658	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	N	624;658;663;624;624;663	ENSP00000386704:T624N;ENSP00000386777:T658N;ENSP00000074304:T663N;ENSP00000442149:T624N;ENSP00000387294:T624N;ENSP00000427722:T663N	ENSP00000074304:T663N	T	+	2	0	INPP4A	98546477	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	ACC		PASS	0.632	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		11	48	11	48	---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103040368	103040368	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:103040368C>A	ENST00000264260.2	+	4	757	c.168C>A	c.(166-168)ttC>ttA	p.F56L	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	56					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.F56L(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AATCACATTTCTGCCACAGAA	0.428																																						uc002tbx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(166-168)TTC>TTA		interleukin 18 receptor accessory protein							67.0	65.0	66.0					2																	103040368		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040368C>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.168C>A	2.37:g.103040368C>A	ENSP00000264260:p.Phe56Leu					IL18RAP_uc010fiz.2_Intron	p.F56L	NM_003853	NP_003844	O95256	I18RA_HUMAN			4	652	+			56			Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.168C>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	1.722	-0.496365	0.04291	.	.	ENSG00000115607	ENST00000264260	T	0.02032	4.49	4.59	-0.858	0.10689	.	1.687410	0.02704	N	0.112024	T	0.02193	0.0068	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47522	-0.9111	10	0.10377	T	0.69	.	4.7815	0.13204	0.1428:0.3547:0.4176:0.0849	.	56	O95256	I18RA_HUMAN	L	56	ENSP00000264260:F56L	ENSP00000264260:F56L	F	+	3	2	IL18RAP	102406800	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.637000	0.05459	-0.290000	0.09025	0.563000	0.77884	TTC		PASS	0.428	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		11	50	11	50	---	---	---	---
SLC5A7	60482	broad.mit.edu	37	2	108609583	108609583	+	Splice_Site	SNP	G	G	T	rs369645282		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:108609583G>T	ENST00000264047.2	+	4	724	c.448G>T	c.(448-450)Gga>Tga	p.G150*	SLC5A7_ENST00000409059.1_Splice_Site_p.G150*|SLC5A7_ENST00000540517.1_Splice_Site_p.G45*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	150					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.G150*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTCTGCTTTGGGTAAGGACCA	0.443																																						uc002tdv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(448-450)GGA>TGA		solute carrier family 5 (choline transporter),	Choline(DB00122)	G	stop/GLY	0,4406		0,0,2203	104.0	83.0	90.0		448	6.1	1.0	2		90	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained-near-splice	SLC5A7	NM_021815.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		150/581	108609583	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108609583G>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.448+1G>T	2.37:g.108609583G>T						SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Nonsense_Mutation_p.G150*|SLC5A7_uc010ywn.1_Nonsense_Mutation_p.G37*	p.G150*	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			4	724	+			150			Cytoplasmic (Potential).		Q53TF2	Nonsense_Mutation	SNP	ENST00000264047.2	37	c.448G>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	39	7.659756	0.98419	0.0	1.16E-4	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.2115	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	150;45;150	.	ENSP00000264047:G150X	G	+	1	0	SLC5A7	107976015	1.000000	0.71417	0.999000	0.59377	0.520000	0.34377	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GGA		PASS	0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		Nonsense_Mutation	13	45	13	45	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131521817	131521817	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:131521817C>A	ENST00000423981.1	+	2	2282	c.2172C>A	c.(2170-2172)agC>agA	p.S724R	AMER3_ENST00000321420.4_Missense_Mutation_p.S724R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	724					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S724R(1)									AGTCCAGCAGCTCCCCCAGCA	0.647																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2170-2172)AGC>AGA		hypothetical protein LOC205147							53.0	48.0	50.0					2																	131521817		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131521817C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2172C>A	2.37:g.131521817C>A	ENSP00000392700:p.Ser724Arg					FAM123C_uc010fmv.2_Missense_Mutation_p.S724R|FAM123C_uc010fms.1_Missense_Mutation_p.S724R|FAM123C_uc010fmt.1_Missense_Mutation_p.S724R|FAM123C_uc010fmu.1_Missense_Mutation_p.S724R	p.S724R	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2362	+	Colorectal(110;0.1)		724					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.2172C>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	7.294	0.611582	0.14066	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.47869	0.83;0.83	3.97	2.14	0.27477	.	0.615588	0.14686	N	0.304455	T	0.30198	0.0757	L	0.27053	0.805	0.09310	N	1	B	0.22909	0.077	B	0.23018	0.043	T	0.14559	-1.0468	10	0.37606	T	0.19	.	5.4334	0.16466	0.0:0.7497:0.0:0.2503	.	724	Q8N944	F123C_HUMAN	R	724	ENSP00000314914:S724R;ENSP00000392700:S724R	ENSP00000314914:S724R	S	+	3	2	FAM123C	131238287	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	0.155000	0.16362	0.984000	0.38629	0.462000	0.41574	AGC		PASS	0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		3	29	3	29	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141283417	141283417	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:141283417G>C	ENST00000389484.3	-	49	8993	c.8022C>G	c.(8020-8022)tgC>tgG	p.C2674W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2674	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.C2674W(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTACCTGGGCACTTTAATT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8020-8022)TGC>TGG		low density lipoprotein-related protein 1B							72.0	71.0	71.0					2																	141283417		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141283417G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8022C>G	2.37:g.141283417G>C	ENSP00000374135:p.Cys2674Trp	TSP Lung(27;0.18)					p.C2674W	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	49	8994	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2674			Extracellular (Potential).|LDL-receptor class A 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8022C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583786	0.46006	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	4.94	0.715	0.18186	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97311	0.9937	10	0.72032	D	0.01	.	9.0454	0.36343	0.5151:0.0:0.4849:0.0	.	2674	Q9NZR2	LRP1B_HUMAN	W	2674;2612	ENSP00000374135:C2674W	ENSP00000374135:C2674W	C	-	3	2	LRP1B	140999887	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	1.145000	0.31577	0.015000	0.14971	-0.355000	0.07637	TGC		PASS	0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	43	9	43	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141747209	141747209	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:141747209C>G	ENST00000389484.3	-	17	3633	c.2662G>C	c.(2662-2664)Gat>Cat	p.D888H	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	888	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D888H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTGATCATCAGGACAGCTA	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2662-2664)GAT>CAT		low density lipoprotein-related protein 1B							118.0	110.0	112.0					2																	141747209		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747209C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2662G>C	2.37:g.141747209C>G	ENSP00000374135:p.Asp888His	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.D888H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	17	3634	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	888			Extracellular (Potential).|LDL-receptor class A 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2662G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470740	0.63625	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95482	-3.72	5.69	5.69	0.88448	.	0.405610	0.24828	U	0.035268	D	0.93936	0.8059	L	0.45422	1.42	0.33289	D	0.563207	P	0.42941	0.794	P	0.45998	0.5	D	0.95585	0.8650	10	0.45353	T	0.12	.	13.3963	0.60856	0.0:0.9282:0.0:0.0718	.	888	Q9NZR2	LRP1B_HUMAN	H	888;826	ENSP00000374135:D888H	ENSP00000374135:D888H	D	-	1	0	LRP1B	141463679	0.970000	0.33590	1.000000	0.80357	0.990000	0.78478	1.846000	0.39289	2.840000	0.97914	0.655000	0.94253	GAT		PASS	0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	85	14	85	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141806619	141806619	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:141806619G>A	ENST00000389484.3	-	11	2696	c.1725C>T	c.(1723-1725)acC>acT	p.T575T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	575					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T575T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAAACTGGTGGTGTCAGCAA	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1723-1725)ACC>ACT		low density lipoprotein-related protein 1B							185.0	172.0	177.0					2																	141806619		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806619G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1725C>T	2.37:g.141806619G>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.T575T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	11	2697	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	575			Extracellular (Potential).|LDL-receptor class B 5.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1725C>T	CCDS2182.1																																																																																				PASS	0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	136	34	136	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848466	166848466	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:166848466G>A	ENST00000303395.4	-	26	5318	c.5319C>T	c.(5317-5319)tcC>tcT	p.S1773S	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.S1773S|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S1762S|SCN1A_ENST00000409050.1_Silent_p.S1745S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1773			S -> F (in EIEE6; dbSNP:rs121917951). {ECO:0000269|PubMed:17054684}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.S1762S(1)|p.S1773S(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAACCAGGAAGGATATGATGA	0.443																																						uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5284-5286)TCC>TCT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						156.0	152.0	154.0					2																	166848466		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848466G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5319C>T	2.37:g.166848466G>A							p.S1762S	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5304	-			1773			IV.|Helical; Name=S6 of repeat IV; (By similarity).		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5286C>T	CCDS54413.1																																																																																				PASS	0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		38	160	38	160	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102055	168102055	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:168102055A>T	ENST00000409195.1	+	9	4242	c.4153A>T	c.(4153-4155)Agt>Tgt	p.S1385C	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1163C|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1385C|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1210					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.S1385C(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						GGGAGATGTTAGTTCTGTCAG	0.353																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4153-4155)AGT>TGT		xin actin-binding repeat containing 2 isoform 1							71.0	67.0	68.0					2																	168102055		1847	4090	5937	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102055A>T	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.4153A>T	2.37:g.168102055A>T	ENSP00000386840:p.Ser1385Cys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1210C|XIRP2_uc010fpq.2_Missense_Mutation_p.S1163C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.S1385C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4171	+			1210			Xin 24.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4153A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085670	0.55861	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03035	4.07;4.07;4.07	5.78	5.78	0.91487	.	0.200351	0.52532	D	0.000064	T	0.12817	0.0311	M	0.71581	2.175	0.42288	D	0.992128	D;D;D	0.71674	0.998;0.975;0.975	P;P;P	0.57371	0.819;0.717;0.717	T	0.00206	-1.1921	10	0.87932	D	0	-10.3546	11.7327	0.51746	0.8679:0.0:0.0:0.1321	.	1210;1210;1163	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	1385;1385;1163	ENSP00000386840:S1385C;ENSP00000295237:S1385C;ENSP00000387255:S1163C	ENSP00000295237:S1385C	S	+	1	0	XIRP2	167810301	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.064000	0.57506	2.215000	0.71742	0.460000	0.39030	AGT		PASS	0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	73	17	73	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170127585	170127585	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:170127585C>G	ENST00000263816.3	-	16	2434	c.2149G>C	c.(2149-2151)Gtt>Ctt	p.V717L	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	717					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V717L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CGAATAGCAACTTGGGATGAA	0.448																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2149-2151)GTT>CTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						77.0	64.0	68.0					2																	170127585		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170127585C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2149G>C	2.37:g.170127585C>G	ENSP00000263816:p.Val717Leu					LRP2_uc010zdf.1_Intron	p.V717L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	16	2362	-			717			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2149G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015716	0.35606	.	.	ENSG00000081479	ENST00000263816	D	0.91011	-2.77	5.77	-11.5	0.00074	Six-bladed beta-propeller, TolB-like (1);	1.135810	0.06487	N	0.733972	T	0.63153	0.2487	N	0.01410	-0.885	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57934	-0.7725	10	0.07482	T	0.82	.	5.561	0.17144	0.073:0.195:0.4469:0.2852	.	717	P98164	LRP2_HUMAN	L	717	ENSP00000263816:V717L	ENSP00000263816:V717L	V	-	1	0	LRP2	169835831	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.805000	0.04530	-1.484000	0.01856	-2.366000	0.00237	GTT		PASS	0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	41	5	41	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179398873	179398873	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:179398873A>T	ENST00000591111.1	-	308	97770	c.97546T>A	c.(97546-97548)Tgc>Agc	p.C32516S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C25284S|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C25217S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C31589S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C25092S|TTN_ENST00000589042.1_Missense_Mutation_p.C34157S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32516	Ig-like 143.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C31587S(1)|p.C31589S(1)|p.C25217S(1)|p.C25284S(1)|p.C25092S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATTTTGCATACATATTTG	0.423																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94765-94767)TGC>AGC		titin isoform N2-A							115.0	113.0	114.0					2																	179398873		1940	4137	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398873A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97546T>A	2.37:g.179398873A>T	ENSP00000465570:p.Cys32516Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C25284S|TTN_uc010zfi.1_Missense_Mutation_p.C25217S|TTN_uc010zfj.1_Missense_Mutation_p.C25092S	p.C31589S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94989	-			32516					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94765T>A		.	.	.	.	.	.	.	.	.	.	A	15.49	2.849209	0.51270	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78629	0.4313	M	0.74258	2.255	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81457	-0.0924	9	0.87932	D	0	.	14.6816	0.69020	1.0:0.0:0.0:0.0	.	25092;25217;25284;32516	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	31589;25092;25284;25217;25089	ENSP00000343764:C31589S;ENSP00000434586:C25092S;ENSP00000340554:C25284S;ENSP00000352154:C25217S	ENSP00000340554:C25284S	C	-	1	0	TTN	179107119	1.000000	0.71417	0.986000	0.45419	0.915000	0.54546	9.257000	0.95545	2.175000	0.68902	0.397000	0.26171	TGC		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	142	25	142	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179577633	179577633	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:179577633C>G	ENST00000591111.1	-	92	26392	c.26168G>C	c.(26167-26169)aGt>aCt	p.S8723T	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7796T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9040T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12883	Ig-like 70.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S7796T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTACGATACTTGTGAAAGT	0.408																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(23386-23388)AGT>ACT		titin isoform N2-A							51.0	47.0	48.0					2																	179577633		1911	4117	6028	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577633C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26168G>C	2.37:g.179577633C>G	ENSP00000465570:p.Ser8723Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4457T	p.S7796T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		91	23611	-			8723					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23387G>C		.	.	.	.	.	.	.	.	.	.	C	4.999	0.185595	0.09495	.	.	ENSG00000155657	ENST00000342992	T	0.39997	1.05	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45657	0.1353	L	0.59436	1.845	0.34975	D	0.753524	B	0.33777	0.425	B	0.37508	0.252	T	0.60875	-0.7176	9	0.87932	D	0	.	15.2271	0.73359	0.0:0.8599:0.1401:0.0	.	8723	Q8WZ42	TITIN_HUMAN	T	7796	ENSP00000343764:S7796T	ENSP00000343764:S7796T	S	-	2	0	TTN	179285878	1.000000	0.71417	0.980000	0.43619	0.268000	0.26511	3.091000	0.50199	2.722000	0.93159	0.655000	0.94253	AGT		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	28	11	28	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179592014	179592014	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:179592014C>A	ENST00000591111.1	-	67	19351	c.19127G>T	c.(19126-19128)gGa>gTa	p.G6376V	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5449V|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G6693V|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13148	Ig-like 45.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G5449V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGGGGATCCAGCTATCTT	0.418																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16345-16347)GGA>GTA		titin isoform N2-A							74.0	68.0	70.0					2																	179592014		1872	4095	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592014C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19127G>T	2.37:g.179592014C>A	ENSP00000465570:p.Gly6376Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2110V	p.G5449V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	16570	-			6376					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16346G>T		.	.	.	.	.	.	.	.	.	.	C	13.61	2.288542	0.40494	.	.	ENSG00000155657	ENST00000342992	T	0.79940	-1.32	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94185	0.8134	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95088	0.8219	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	6376	Q8WZ42	TITIN_HUMAN	V	5449	ENSP00000343764:G5449V	ENSP00000343764:G5449V	G	-	2	0	TTN	179300259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	72	13	72	---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182423343	182423343	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:182423343C>T	ENST00000339098.5	-	6	847	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	CERKL_ENST00000374970.2_Intron|CERKL_ENST00000409440.3_Missense_Mutation_p.R239Q|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000410087.3_Missense_Mutation_p.R257Q			Q49MI3	CERKL_HUMAN	ceramide kinase-like	283	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R257Q(1)|p.R283Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGTCAGGATTCGGTCTGTTTC	0.488																																						uc002unx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(847-849)CGA>CAA		ceramide kinase-like isoform b							107.0	112.0	110.0					2																	182423343		2017	4170	6187	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182423343C>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.848G>A	2.37:g.182423343C>T	ENSP00000341159:p.Arg283Gln					CERKL_uc002uny.2_Missense_Mutation_p.R257Q|CERKL_uc010zfm.1_Missense_Mutation_p.R239Q|CERKL_uc002unz.2_Missense_Mutation_p.R5Q|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Missense_Mutation_p.R5Q|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.R52Q|CERKL_uc002uoe.2_Missense_Mutation_p.R257Q	p.R283Q	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		6	949	-			283			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.848G>A	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913228	0.33815	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000339098	T;T;T	0.18016	2.24;2.57;2.55	5.93	-0.0427	0.13862	Diacylglycerol kinase, catalytic domain (2);	1.461150	0.03948	N	0.288007	T	0.09291	0.0229	N	0.11201	0.11	0.09310	N	1	B;B;B	0.17667	0.023;0.01;0.013	B;B;B	0.04013	0.001;0.0;0.001	T	0.30504	-0.9976	10	0.27082	T	0.32	.	5.8114	0.18467	0.0:0.2599:0.1542:0.5859	.	239;257;283	B4DEY1;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	Q	257;239;283	ENSP00000386725:R257Q;ENSP00000387080:R239Q;ENSP00000341159:R283Q	ENSP00000341159:R283Q	R	-	2	0	CERKL	182131588	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	0.126000	0.15769	0.066000	0.16515	-0.229000	0.12294	CGA		PASS	0.488	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			24	86	24	86	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182780211	182780211	+	Missense_Mutation	SNP	G	G	A	rs141978094		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:182780211G>A	ENST00000431877.2	+	11	2023	c.1844G>A	c.(1843-1845)gGg>gAg	p.G615E	SSFA2_ENST00000320370.7_Missense_Mutation_p.G615E|SSFA2_ENST00000428267.2_Missense_Mutation_p.G462E|SSFA2_ENST00000409136.1_Missense_Mutation_p.G124E|SSFA2_ENST00000409001.1_Missense_Mutation_p.G615E	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	615						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G615E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGTAGTCCAGGGGATCATATC	0.448																																						uc002uoi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1843-1845)GGG>GAG		sperm specific antigen 2 isoform 1		G	GLU/GLY,GLU/GLY	0,4406		0,0,2203	80.0	69.0	73.0		1844,1844	1.1	0.0	2	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SSFA2	NM_001130445.1,NM_006751.5	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	615/1260,615/1257	182780211	1,13005	2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780211G>A	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1844G>A	2.37:g.182780211G>A	ENSP00000388731:p.Gly615Glu					SSFA2_uc002uoh.2_Missense_Mutation_p.G615E|SSFA2_uc002uoj.2_Missense_Mutation_p.G615E|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.G462E|SSFA2_uc002uol.2_Missense_Mutation_p.G462E|SSFA2_uc002uom.2_Missense_Mutation_p.G83E	p.G615E	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2166	+			615					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1844G>A	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	2.413	-0.334814	0.05278	0.0	1.16E-4	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.13657	2.8;2.57;2.8;2.8;2.57	5.19	1.08	0.20341	.	1.401160	0.04062	N	0.306609	T	0.15262	0.0368	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B	0.14438	0.005;0.005;0.005;0.005;0.01	B;B;B;B;B	0.11329	0.006;0.006;0.006;0.006;0.006	T	0.34378	-0.9831	10	0.56958	D	0.05	-2.003	3.0874	0.06283	0.4439:0.0:0.3659:0.1902	.	462;124;615;615;615	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	E	615;615;615;462;124	ENSP00000388731:G615E;ENSP00000314669:G615E;ENSP00000387319:G615E;ENSP00000409867:G462E;ENSP00000386916:G124E	ENSP00000314669:G615E	G	+	2	0	SSFA2	182488456	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	-0.061000	0.11693	0.244000	0.21351	0.555000	0.69702	GGG		PASS	0.448	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		9	39	9	39	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182780729	182780729	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:182780729A>C	ENST00000431877.2	+	11	2541	c.2362A>C	c.(2362-2364)Atg>Ctg	p.M788L	SSFA2_ENST00000320370.7_Missense_Mutation_p.M788L|SSFA2_ENST00000428267.2_Missense_Mutation_p.M635L|SSFA2_ENST00000409136.1_Missense_Mutation_p.M297L|SSFA2_ENST00000409001.1_Missense_Mutation_p.M788L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	788						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M788L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AAAGCGGGTGATGGAACATGA	0.483																																						uc002uoi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(2362-2364)ATG>CTG		sperm specific antigen 2 isoform 1							66.0	60.0	62.0					2																	182780729		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780729A>C	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2362A>C	2.37:g.182780729A>C	ENSP00000388731:p.Met788Leu					SSFA2_uc002uoh.2_Missense_Mutation_p.M788L|SSFA2_uc002uoj.2_Missense_Mutation_p.M788L|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.M635L|SSFA2_uc002uol.2_Missense_Mutation_p.M635L|SSFA2_uc002uom.2_Missense_Mutation_p.M256L	p.M788L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2684	+			788					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2362A>C	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	A	2.031	-0.422467	0.04734	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.12984	2.86;2.63;2.86;2.86;2.64	5.95	-4.29	0.03721	.	2.297390	0.01081	N	0.004993	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001	T	0.34576	-0.9823	10	0.28530	T	0.3	2.836	9.2073	0.37298	0.251:0.2958:0.4532:0.0	.	635;297;788;788;788	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	L	788;788;788;635;297	ENSP00000388731:M788L;ENSP00000314669:M788L;ENSP00000387319:M788L;ENSP00000409867:M635L;ENSP00000386916:M297L	ENSP00000314669:M788L	M	+	1	0	SSFA2	182488974	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.038000	0.03553	-0.332000	0.08489	0.533000	0.62120	ATG		PASS	0.483	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		9	63	9	63	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189868835	189868835	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:189868835G>A	ENST00000304636.3	+	39	2959	c.2789G>A	c.(2788-2790)gGa>gAa	p.G930E	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	930	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G930E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGCCAACCAGGAGAGAAGGGA	0.502																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2788-2790)GGA>GAA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						32.0	38.0	36.0					2																	189868835		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868835G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2789G>A	2.37:g.189868835G>A	ENSP00000304408:p.Gly930Glu						p.G930E	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		39	2906	+			930			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2789G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154026	0.94645	.	.	ENSG00000168542	ENST00000304636	D	0.99488	-6.0	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000099	D	0.99771	0.9906	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97076	0.9781	10	0.72032	D	0.01	.	19.4068	0.94651	0.0:0.0:1.0:0.0	.	930	P02461	CO3A1_HUMAN	E	930	ENSP00000304408:G930E	ENSP00000304408:G930E	G	+	2	0	COL3A1	189577080	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	8.021000	0.88750	2.590000	0.87494	0.551000	0.68910	GGA		PASS	0.502	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		16	51	16	51	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190728639	190728639	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:190728639C>T	ENST00000441310.2	+	10	2260	c.2027C>T	c.(2026-2028)cCa>cTa	p.P676L	PMS1_ENST00000418224.3_Missense_Mutation_p.P500L|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Missense_Mutation_p.P500L|PMS1_ENST00000409823.3_Missense_Mutation_p.P637L|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	676					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.P676L(1)|p.P676R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCTAATCAACCAAAACTTGAT	0.333			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			2	Substitution - Missense(2)	p.P676R(1)	ovary(1)|lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(2026-2028)CCA>CTA	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							82.0	88.0	86.0					2																	190728639		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728639C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2027C>T	2.37:g.190728639C>T	ENSP00000406490:p.Pro676Leu					PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.P615L|PMS1_uc002urk.3_Missense_Mutation_p.P637L|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.P500L|PMS1_uc010zgd.1_Missense_Mutation_p.P500L|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.P637L|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.P344L	p.P676L	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2556	+			676					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2027C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957111	0.73902	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.87256	2.06;2.06;2.06;2.06;-2.23;1.91	5.45	5.45	0.79879	.	0.156057	0.64402	D	0.000020	D	0.89962	0.6867	M	0.65975	2.015	0.48762	D	0.999709	D;D;D;D	0.62365	0.991;0.965;0.981;0.991	P;P;P;P	0.54924	0.764;0.631;0.742;0.764	D	0.89616	0.3845	10	0.51188	T	0.08	-14.5228	13.6008	0.62018	0.247:0.753:0.0:0.0	.	676;637;637;676	Q4VAL4;Q5FBZ9;Q5FBZ3;P54277	.;.;.;PMS1_HUMAN	L	500;676;500;637;500;615;64	ENSP00000406490:P676L;ENSP00000404492:P500L;ENSP00000387125:P637L;ENSP00000398378:P500L;ENSP00000389938:P615L;ENSP00000396232:P64L	ENSP00000376149:P500L	P	+	2	0	PMS1	190436884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.343000	0.59348	2.852000	0.98041	0.644000	0.83932	CCA		PASS	0.333	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			19	89	19	89	---	---	---	---
BARD1	580	broad.mit.edu	37	2	215645566	215645566	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:215645566A>C	ENST00000260947.4	-	4	1166	c.1032T>G	c.(1030-1032)agT>agG	p.S344R	BARD1_ENST00000449967.2_Missense_Mutation_p.S200R|BARD1_ENST00000471787.1_5'Flank	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	344					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S344R(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAATCTCCACTGGTGCTCA	0.413									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(1030-1032)AGT>AGG		BRCA1 associated RING domain 1							97.0	96.0	96.0					2																	215645566		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645566A>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1032T>G	2.37:g.215645566A>C	ENSP00000260947:p.Ser344Arg					BARD1_uc010zjm.1_Missense_Mutation_p.S200R	p.S344R	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1167	-		Renal(323;0.0243)	344					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1032T>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934638	0.52866	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.74947	-0.89;-0.24	5.65	-0.281	0.12882	.	0.683765	0.15393	N	0.264715	T	0.69788	0.3150	L	0.46157	1.445	0.09310	N	1	D;B	0.57899	0.981;0.007	P;B	0.55161	0.77;0.003	T	0.58250	-0.7669	10	0.34782	T	0.22	-0.2381	2.6141	0.04899	0.5061:0.1054:0.2737:0.1148	.	200;344	E7EUI3;Q99728	.;BARD1_HUMAN	R	344;200	ENSP00000260947:S344R;ENSP00000406752:S200R	ENSP00000260947:S344R	S	-	3	2	BARD1	215353811	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-0.280000	0.08468	0.085000	0.17107	-0.256000	0.11100	AGT		PASS	0.413	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		22	77	22	77	---	---	---	---
STK36	27148	broad.mit.edu	37	2	219558038	219558038	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:219558038C>T	ENST00000295709.3	+	17	2398	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	STK36_ENST00000392105.3_Missense_Mutation_p.H707Y|STK36_ENST00000392106.2_Missense_Mutation_p.H707Y|STK36_ENST00000440309.1_Missense_Mutation_p.H707Y	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.H707Y(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGGCCTGCAGCATCCCATCCT	0.493																																						uc002viu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(2119-2121)CAT>TAT		serine/threonine kinase 36							130.0	111.0	117.0					2																	219558038		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219558038C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2119C>T	2.37:g.219558038C>T	ENSP00000295709:p.His707Tyr					STK36_uc002viv.2_Missense_Mutation_p.H707Y|STK36_uc002viw.2_5'Flank	p.H707Y	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	17	2385	+		Renal(207;0.0915)	707						Missense_Mutation	SNP	ENST00000295709.3	37	c.2119C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189427	0.78789	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.68624	-0.34;-0.34;0.75;-0.34	5.15	5.15	0.70609	Armadillo-like helical (1);	0.000000	0.46758	D	0.000262	T	0.73305	0.3570	L	0.29908	0.895	0.46874	D	0.999232	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.76013	-0.3114	10	0.87932	D	0	-14.2393	15.5509	0.76152	0.0:1.0:0.0:0.0	.	707;707	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	Y	707	ENSP00000295709:H707Y;ENSP00000375955:H707Y;ENSP00000375954:H707Y;ENSP00000394095:H707Y	ENSP00000295709:H707Y	H	+	1	0	STK36	219266282	0.861000	0.29849	1.000000	0.80357	0.972000	0.66771	1.434000	0.34958	2.705000	0.92388	0.556000	0.70494	CAT		PASS	0.493	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			18	52	18	52	---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220404186	220404186	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:220404186G>A	ENST00000243776.6	-	4	2495	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	CHPF_ENST00000535926.1_Silent_p.L587L	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	749					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.L749L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCACGCTCTGGAGGCAGCGGT	0.682																																						uc002vmc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2245-2247)CTC>CTT		chondroitin polymerizing factor							45.0	40.0	42.0					2																	220404186		2203	4299	6502	SO:0001819	synonymous_variant	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404186G>A	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.2247C>T	2.37:g.220404186G>A						CHPF_uc010zlh.1_Silent_p.L587L	p.L749L	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2474	-		Renal(207;0.0183)	749			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	c.2247C>T	CCDS2443.1																																																																																				PASS	0.682	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		7	36	7	36	---	---	---	---
ALPPL2	251	broad.mit.edu	37	2	233272586	233272586	+	Silent	SNP	G	G	A	rs564544259		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:233272586G>A	ENST00000295453.3	+	5	559	c.507G>A	c.(505-507)cgG>cgA	p.R169R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	169					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)	p.R169R(1)		breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CCACCACACGGGTGCAGCATG	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		16480	0.001		0.0	False		,,,				2504	0.0					uc002vss.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(505-507)CGG>CGA		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						60.0	63.0	62.0					2																	233272586		2203	4300	6503	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272586G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.507G>A	2.37:g.233272586G>A							p.R169R	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	560	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	169					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.507G>A	CCDS2491.1																																																																																				PASS	0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		20	68	20	68	---	---	---	---
ATG16L1	55054	broad.mit.edu	37	2	234198998	234198998	+	Splice_Site	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:234198998C>A	ENST00000392017.4	+	14	1686	c.1429C>A	c.(1429-1431)Cga>Aga	p.R477R	ATG16L1_ENST00000392018.1_Splice_Site_p.R494R|ATG16L1_ENST00000347464.5_Splice_Site_p.R314R|ATG16L1_ENST00000392020.4_Splice_Site_p.R458R|ATG16L1_ENST00000373525.5_Splice_Site_p.R298R|SCARNA6_ENST00000515982.1_RNA	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	477					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.R477*(1)|p.R136R(1)|p.R477R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CTGGGACATTCGGTATGATAC	0.428																																						uc002vty.2																			3	Substitution - coding silent(2)|Substitution - Nonsense(1)		lung(2)|large_intestine(1)		0						c.(1429-1431)CGA>AGA		APG16 autophagy 16-like isoform 1							159.0	146.0	150.0					2																	234198998		2203	4300	6503	SO:0001630	splice_region_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234198998C>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1430+1C>A	2.37:g.234198998C>A						ATG16L1_uc002vtx.1_Silent_p.R314R|ATG16L1_uc002vua.2_Silent_p.R458R|ATG16L1_uc002vub.2_Silent_p.R335R|ATG16L1_uc002vtz.2_Silent_p.R298R|ATG16L1_uc002vud.3_Silent_p.R393R	p.R477R	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	14	1686	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	477			WD 4.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.1429C>A	CCDS2503.2																																																																																				PASS	0.428	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974	Silent	4	87	4	87	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234526456	234526456	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:234526456G>A	ENST00000373450.4	+	1	166	c.103G>A	c.(103-105)Ggg>Agg	p.G35R		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	37					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.G35R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GCCCATGGATGGGAGTCACTG	0.572																																						uc002vup.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(103-105)GGG>AGG		UDP glycosyltransferase 1 family, polypeptide A8							95.0	78.0	83.0					2																	234526456		2203	4300	6503	SO:0001583	missense	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234526456G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.103G>A	2.37:g.234526456G>A	ENSP00000362549:p.Gly35Arg					UGT1A8_uc010zmv.1_Missense_Mutation_p.G35R	p.G35R	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	166	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	35					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.103G>A	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337887	0.60963	.	.	ENSG00000242366	ENST00000373450	T	0.64085	-0.08	3.96	3.96	0.45880	.	.	.	.	.	T	0.76140	0.3946	M	0.77820	2.39	0.41717	D	0.989487	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76242	-0.3031	9	0.41790	T	0.15	.	10.3327	0.43831	0.0923:0.0:0.9077:0.0	.	35;35	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	R	35	ENSP00000362549:G35R	ENSP00000362549:G35R	G	+	1	0	UGT1A8	234191195	1.000000	0.71417	0.996000	0.52242	0.639000	0.38242	6.093000	0.71422	2.226000	0.72624	0.505000	0.49811	GGG		PASS	0.572	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			16	100	16	100	---	---	---	---
UGT1A6	54578	broad.mit.edu	37	2	234675779	234675779	+	Missense_Mutation	SNP	A	A	G	rs200903749	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr2:234675779A>G	ENST00000305139.6	+	2	1100	c.961A>G	c.(961-963)Att>Gtt	p.I321V	UGT1A1_ENST00000373450.4_Missense_Mutation_p.I319V|UGT1A10_ENST00000344644.5_Missense_Mutation_p.I319V|UGT1A10_ENST00000373445.1_Missense_Mutation_p.I319V|UGT1A6_ENST00000406651.1_Missense_Mutation_p.I54V|UGT1A4_ENST00000373409.3_Missense_Mutation_p.I323V|UGT1A1_ENST00000360418.3_Missense_Mutation_p.I322V|UGT1A1_ENST00000608381.1_Missense_Mutation_p.I323V|UGT1A1_ENST00000608383.1_Missense_Mutation_p.I322V|UGT1A7_ENST00000373426.3_Missense_Mutation_p.I319V|UGT1A1_ENST00000609767.1_Missense_Mutation_p.I323V|UGT1A8_ENST00000305208.5_Missense_Mutation_p.I322V|UGT1A6_ENST00000373424.1_Missense_Mutation_p.I54V|UGT1A9_ENST00000354728.4_Missense_Mutation_p.I319V|UGT1A3_ENST00000482026.1_Missense_Mutation_p.I323V|UGT1A5_ENST00000373414.3_Missense_Mutation_p.I323V|UGT1A1_ENST00000609637.1_Missense_Mutation_p.I319V	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	321					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I319V(4)|p.I323V(3)|p.I322V(1)|p.I321V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AGCTATGGCAATTGCTGATGC	0.418													A|||	24	0.00479233	0.0	0.0	5008	,	,		15994	0.0		0.0	False		,,,				2504	0.0245					uc002vuw.2																			9	Substitution - Missense(9)		lung(9)	skin(1)	1						c.(967-969)ATT>GTT		UDP glycosyltransferase 1 family, polypeptide A5							125.0	127.0	127.0					2																	234675779		2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234675779A>G	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.961A>G	2.37:g.234675779A>G	ENSP00000303174:p.Ile321Val					UGT1A8_uc010zmv.1_Missense_Mutation_p.I319V|UGT1A8_uc002vup.2_Missense_Mutation_p.I319V|UGT1A10_uc002vuq.3_Missense_Mutation_p.I319V|UGT1A10_uc002vur.2_Missense_Mutation_p.I319V|UGT1A9_uc010zmw.1_Missense_Mutation_p.I319V|UGT1A9_uc002vus.2_Missense_Mutation_p.I319V|UGT1A7_uc010zmx.1_Missense_Mutation_p.I319V|UGT1A7_uc002vut.2_Missense_Mutation_p.I319V|UGT1A6_uc002vuu.2_Missense_Mutation_p.I54V|UGT1A6_uc010zmy.1_Missense_Mutation_p.I321V|UGT1A6_uc002vuv.3_Missense_Mutation_p.I321V|UGT1A5_uc010zmz.1_Missense_Mutation_p.I323V|UGT1A4_uc010zna.1_Missense_Mutation_p.I323V|UGT1A4_uc002vux.2_Missense_Mutation_p.I323V|UGT1A3_uc010znb.1_Missense_Mutation_p.I323V|UGT1A3_uc002vuy.2_Missense_Mutation_p.I323V|UGT1A9_uc002vva.2_RNA|UGT1A1_uc010znc.1_Missense_Mutation_p.I322V|UGT1A1_uc002vvb.2_Missense_Mutation_p.I322V	p.I323V	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	2	967	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	323					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.967A>G	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058106	0.76074	.	.	ENSG00000242366;ENSG00000242515;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000373445;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000406651;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208;ENST00000360418	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.78	5.78	0.91487	.	0.053260	0.64402	D	0.000001	T	0.81235	0.4780	M	0.84683	2.71	0.35494	D	0.799205	P;D;D;D;D;B;D;D;P;D;D;D;D;B;D;D;D;D	0.71674	0.83;0.983;0.984;0.994;0.993;0.452;0.983;0.978;0.642;0.983;0.983;0.994;0.998;0.452;0.983;0.983;0.983;0.978	B;D;P;D;P;B;D;D;P;D;D;D;D;B;D;D;D;D	0.79784	0.404;0.977;0.836;0.993;0.901;0.438;0.977;0.968;0.507;0.977;0.977;0.993;0.961;0.438;0.977;0.977;0.979;0.968	D	0.87806	0.2628	10	0.62326	D	0.03	.	15.788	0.78322	1.0:0.0:0.0:0.0	.	322;323;323;323;321;319;319;319;322;323;323;323;321;319;319;319;319;319	A6NJC3;Q5DT01;B8K288;Q5DSZ9;B8K289;Q5DSZ7;Q5DSZ5;Q5DSZ6;P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q7Z6H8;Q9HAW9	.;.;.;.;.;.;.;.;UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;.;UD18_HUMAN	V	319;319;319;319;319;54;321;54;323;323;323;322;322	ENSP00000362549:I319V;ENSP00000343838:I319V;ENSP00000362544:I319V;ENSP00000346768:I319V;ENSP00000362525:I319V;ENSP00000362523:I54V;ENSP00000303174:I321V;ENSP00000386107:I54V;ENSP00000362513:I323V;ENSP00000362508:I323V;ENSP00000418532:I323V;ENSP00000304845:I322V;ENSP00000353593:I322V	ENSP00000343838:I319V	I	+	1	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234340518	0.986000	0.35501	0.881000	0.34555	0.979000	0.70002	2.747000	0.47475	2.200000	0.70718	0.460000	0.39030	ATT		PASS	0.418	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		30	119	30	119	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13381467	13381467	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:13381467C>A	ENST00000254508.5	-	25	3440	c.3358G>T	c.(3358-3360)Gcg>Tcg	p.A1120S	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1120					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.A1120S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCACCAGCGCAACGCTCTCA	0.647																																						uc003bxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3358-3360)GCG>TCG		nucleoporin 210 precursor							115.0	120.0	118.0					3																	13381467		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13381467C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3358G>T	3.37:g.13381467C>A	ENSP00000254508:p.Ala1120Ser						p.A1120S	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			25	3441	-	all_neural(104;0.187)		1120			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3358G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906134	0.72868	.	.	ENSG00000132182	ENST00000254508	T	0.69040	-0.37	5.19	5.19	0.71726	Bacterial Ig-like, group 2 (2);	0.000000	0.64402	D	0.000001	D	0.84224	0.5425	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86618	0.1877	10	0.66056	D	0.02	-10.8937	18.7326	0.91741	0.0:1.0:0.0:0.0	.	1120	Q8TEM1	PO210_HUMAN	S	1120	ENSP00000254508:A1120S	ENSP00000254508:A1120S	A	-	1	0	NUP210	13356467	1.000000	0.71417	0.025000	0.17156	0.119000	0.20118	7.361000	0.79497	2.431000	0.82371	0.655000	0.94253	GCG		PASS	0.647	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		72	116	72	116	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47371567	47371567	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:47371567C>T	ENST00000232766.5	+	4	548	c.528C>T	c.(526-528)ttC>ttT	p.F176F	KLHL18_ENST00000455924.2_Silent_p.F64F	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	176	BACK.							p.F176F(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGAAGAGTTCCTGGCCCTGC	0.542																																						uc003crd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(526-528)TTC>TTT		kelch-like 18							128.0	113.0	118.0					3																	47371567		2203	4300	6503	SO:0001819	synonymous_variant	23276							g.chr3:47371567C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.528C>T	3.37:g.47371567C>T						KLHL18_uc003crc.2_Silent_p.F176F|KLHL18_uc011bav.1_Silent_p.F64F|KLHL18_uc010hjq.1_Silent_p.F27F	p.F176F	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	4	654	+		Acute lymphoblastic leukemia(5;0.164)	176			BACK.		A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	c.528C>T	CCDS33749.1																																																																																				PASS	0.542	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		19	53	19	53	---	---	---	---
FEZF2	55079	broad.mit.edu	37	3	62357265	62357265	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:62357265G>A	ENST00000283268.3	-	3	1224	c.930C>T	c.(928-930)tgC>tgT	p.C310C	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Silent_p.C310C|FEZF2_ENST00000475839.1_Silent_p.C310C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	310					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.C310C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AGCCTTTGCCGCAGACTTTGC	0.617																																					NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(928-930)TGC>TGT		FEZ family zinc finger 2							69.0	68.0	68.0					3																	62357265		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62357265G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.930C>T	3.37:g.62357265G>A						FEZF2_uc003dli.2_Silent_p.C310C	p.C310C	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	2	1137	-		Lung SC(41;0.0262)	310			C2H2-type 2.		A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.930C>T	CCDS2897.1																																																																																				PASS	0.617	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		3	58	3	58	---	---	---	---
GCSAM	257144	broad.mit.edu	37	3	111844071	111844071	+	Splice_Site	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:111844071A>T	ENST00000308910.4	-	5	404		c.e5+1		C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Splice_Site	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility						negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)	p.?(1)									TGTTCTTATTACCTGGATGGG	0.423																																						uc003dys.1																			1	Unknown(1)		lung(1)		0						c.e5+1		germinal center expressed transcript 2 isoform							118.0	118.0	118.0					3																	111844071		2203	4300	6503	SO:0001630	splice_region_variant	257144					mitochondrion		g.chr3:111844071A>T	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.219+1T>A	3.37:g.111844071A>T						C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Splice_Site_p.Q7_splice	p.Q73_splice	NM_152785	NP_689998	Q8N6F7	GCET2_HUMAN			5	369	-								C9JD17|C9JUG6	Splice_Site	SNP	ENST00000308910.4	37	c.219_splice	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	A	9.270	1.045457	0.19748	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0161	0.42016	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCET2	113326761	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	3.612000	0.54142	2.146000	0.66826	0.459000	0.35465	.		PASS	0.423	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	Intron	20	75	20	75	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113378936	113378936	+	Silent	SNP	T	T	C	rs34032790		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:113378936T>C	ENST00000478658.1	-	5	1610	c.1593A>G	c.(1591-1593)caA>caG	p.Q531Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q531Q			Q68DE3	K2018_HUMAN	KIAA2018	531						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.Q531Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCTGAATCACTTGCATTGCTG	0.448																																						uc003eam.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1591-1593)CAA>CAG		hypothetical protein LOC205717							120.0	113.0	115.0					3																	113378936		1910	4128	6038	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378936T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1593A>G	3.37:g.113378936T>C						KIAA2018_uc003eal.2_Silent_p.Q475Q	p.Q531Q	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	2004	-			531					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.1593A>G	CCDS43133.1																																																																																				PASS	0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		28	108	28	108	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113721326	113721326	+	Nonsense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:113721326T>A	ENST00000295878.3	-	12	2184	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	680								p.K680*(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTTGTTTTTTCTTCTTCTCT	0.323																																						uc003eax.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2038-2040)AAA>TAA		hypothetical protein LOC57577							133.0	120.0	124.0					3																	113721326		2203	4298	6501	SO:0001587	stop_gained	57577							g.chr3:113721326T>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2038A>T	3.37:g.113721326T>A	ENSP00000295878:p.Lys680*					KIAA1407_uc011bin.1_RNA	p.K680*	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			12	2185	-			680			Potential.		B4DYL1|Q9P2E0	Nonsense_Mutation	SNP	ENST00000295878.3	37	c.2038A>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	39	7.860372	0.98531	.	.	ENSG00000163617	ENST00000295878	.	.	.	5.35	2.9	0.33743	.	0.333251	0.37530	N	0.002049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	11.8625	0.52474	0.0:0.0:0.4284:0.5716	.	.	.	.	X	680	.	ENSP00000295878:K680X	K	-	1	0	KIAA1407	115204016	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.203000	0.32284	0.530000	0.28619	0.533000	0.62120	AAA		PASS	0.323	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		9	60	9	60	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121414584	121414584	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:121414584C>T	ENST00000340645.5	-	13	4896	c.4771G>A	c.(4771-4773)Gaa>Aaa	p.E1591K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1596K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1591					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.E1591K(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)		TTCAAAGATTCAATTTCCTTC	0.378																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(4771-4773)GAA>AAA		golgi autoantigen, golgin subfamily b,							106.0	111.0	109.0					3																	121414584		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414584C>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.4771G>A	3.37:g.121414584C>T	ENSP00000341848:p.Glu1591Lys					GOLGB1_uc010hrc.2_Missense_Mutation_p.E1596K|GOLGB1_uc003eej.3_Missense_Mutation_p.E1557K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1477K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1555K	p.E1591K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4897	-			1591			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4771G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806231	0.50421	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.37584	1.99;1.98;1.19	5.76	4.89	0.63831	.	0.000000	0.64402	D	0.000005	T	0.58018	0.2093	M	0.71581	2.175	0.47819	D	0.999521	D;P;D;P;D	0.76494	0.998;0.86;0.998;0.86;0.999	D;P;D;P;D	0.80764	0.994;0.536;0.994;0.536;0.97	T	0.57757	-0.7756	10	0.35671	T	0.21	.	14.7172	0.69277	0.0:0.8544:0.1456:0.0	.	1516;1555;1596;1596;1591	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	1591;1596;1555	ENSP00000341848:E1591K;ENSP00000377275:E1596K;ENSP00000418231:E1555K	ENSP00000341848:E1591K	E	-	1	0	GOLGB1	122897274	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.559000	0.67326	1.415000	0.47037	0.655000	0.94253	GAA		PASS	0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		37	156	37	156	---	---	---	---
ABTB1	80325	broad.mit.edu	37	3	127396373	127396373	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:127396373C>T	ENST00000232744.8	+	9	914	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ABTB1_ENST00000468137.1_Silent_p.F134F|ABTB1_ENST00000453791.2_Silent_p.F134F|ABTB1_ENST00000393363.3_Silent_p.F134F					ankyrin repeat and BTB (POZ) domain containing 1									p.F276F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ACATCTGCTTCCGAGTGGCTG	0.632																																						uc003ejt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(826-828)TTC>TTT		ankyrin repeat and BTB (POZ) domain containing 1							88.0	90.0	89.0					3																	127396373		2203	4300	6503	SO:0001819	synonymous_variant	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127396373C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.828C>T	3.37:g.127396373C>T						ABTB1_uc003ejr.2_Silent_p.F134F|ABTB1_uc003ejs.2_Silent_p.F251F|ABTB1_uc003eju.2_Silent_p.F134F|ABTB1_uc010hsm.2_Intron	p.F276F	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			9	916	+			276			BTB 2.			Silent	SNP	ENST00000232744.8	37	c.828C>T	CCDS3045.1																																																																																				PASS	0.632	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		32	111	32	111	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130202885	130202885	+	Nonstop_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:130202885A>T	ENST00000432398.2	+	40	8075	c.7581A>T	c.(7579-7581)tgA>tgT	p.*2527C	COL6A5_ENST00000265379.6_3'UTR	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	0	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.*566C(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCAGATGGTGAAGATACAAGG	0.353																																						uc010htj.1																			1	Nonstop extension(1)		lung(1)		0						c.(7579-7581)TGA>TGT		collagen, type XXIX, alpha 1							84.0	82.0	83.0					3																	130202885		1862	4101	5963	SO:0001578	stop_lost	256076				axon guidance|cell adhesion	collagen		g.chr3:130202885A>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7581A>T	3.37:g.130202885A>T	ENSP00000390895:p.*2527Cysext*27					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.E648V	p.*2527C	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			40	8075	+			2527			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonstop_Mutation	SNP	ENST00000432398.2	37	c.7581A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.89|11.89	1.774892|1.774892	0.31411|0.31411	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000373157|ENST00000432398	T|.	0.76839|.	-1.05|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	.|.	.|.	.|.	.|.	T|.	0.38558|.	0.1045|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|.	0.64830|.	0.994|.	P|.	0.62089|.	0.898|.	T|.	0.20840|.	-1.0263|.	8|.	0.87932|.	D|.	0|.	.|.	10.2946|10.2946	0.43616|0.43616	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2609|.	A8TX70|.	CO6A5_HUMAN|.	V|C	552|2527	ENSP00000362250:E552V|.	ENSP00000362250:E552V|.	E|X	+|+	2|3	0|0	COL6A5|COL6A5	131685575|131685575	0.513000|0.513000	0.26194|0.26194	0.082000|0.082000	0.20525|0.20525	0.008000|0.008000	0.06430|0.06430	3.541000|3.541000	0.53618|0.53618	2.210000|2.210000	0.71456|0.71456	0.482000|0.482000	0.46254|0.46254	GAA|TGA		PASS	0.353	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		10	26	10	26	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130452596	130452596	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:130452596C>T	ENST00000356763.3	-	4	1803	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	416					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D416N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTAATACGATCCAAAAGGATT	0.423																																						uc003enj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1246-1248)GAT>AAT		phosphoinositide-3-kinase, regulatory subunit 4							114.0	107.0	109.0					3																	130452596		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452596C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1246G>A	3.37:g.130452596C>T	ENSP00000349205:p.Asp416Asn						p.D416N	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			4	1827	-			416			HEAT 1.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.1246G>A	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234702	0.95207	.	.	ENSG00000196455	ENST00000356763	T	0.32023	1.47	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.63721	-0.6573	10	0.72032	D	0.01	-38.314	20.8794	0.99867	0.0:1.0:0.0:0.0	.	416	Q99570	PI3R4_HUMAN	N	416	ENSP00000349205:D416N	ENSP00000349205:D416N	D	-	1	0	PIK3R4	131935286	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.625000	0.83145	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		14	72	14	72	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143412060	143412061	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:143412060_143412061CC>AA	ENST00000316549.6	-	5	830_831	c.622_623GG>TT	c.(622-624)GGt>TTt	p.G208F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	208					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G208A(1)|p.G208C(1)|p.G208F(1)|p.G208V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATCAGTGAACCAAAAAATAAA	0.337																																						uc003evn.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(622-624)GGT>GTT|c.(622-624)GGT>TGT		solute carrier family 9 (sodium/hydrogen																																				SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143412060C>A|g.chr3:143412061C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.622_623delinsAA	3.37:g.143412060_143412061delinsAA	ENSP00000320246:p.Gly208Phe					SLC9A9_uc011bnk.1_Missense_Mutation_p.G82V|SLC9A9_uc011bnk.1_Missense_Mutation_p.G82C	p.G208V|p.G208C	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			5	805|804	-			208			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.623G>T|c.622G>T	CCDS33872.1																																																																																				PASS	0.337	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		8	45	8	45	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128279	147128279	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:147128279G>T	ENST00000282928.4	+	1	1109	c.380G>T	c.(379-381)gGc>gTc	p.G127V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	127					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)	p.G127V(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TCGGCCGGGGGCTTCGGGGGC	0.701																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(379-381)GGC>GTC		zinc finger protein of the cerebellum 1							11.0	14.0	13.0					3																	147128279		2129	4225	6354	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128279G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.380G>T	3.37:g.147128279G>T	ENSP00000282928:p.Gly127Val						p.G127V	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1099	+			127					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.380G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414858	0.42817	.	.	ENSG00000152977	ENST00000282928	T	0.35605	1.3	3.34	3.34	0.38264	.	0.104735	0.64402	D	0.000003	T	0.26846	0.0657	N	0.19112	0.55	0.80722	D	1	B	0.17038	0.02	B	0.25405	0.06	T	0.12426	-1.0548	10	0.45353	T	0.12	.	15.1964	0.73092	0.0:0.0:1.0:0.0	.	127	Q15915	ZIC1_HUMAN	V	127	ENSP00000282928:G127V	ENSP00000282928:G127V	G	+	2	0	ZIC1	148610969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.315000	0.96313	1.878000	0.54408	0.542000	0.68232	GGC		PASS	0.701	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		5	24	5	24	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184001719	184001719	+	Missense_Mutation	SNP	C	C	A	rs151261667	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr3:184001719C>A	ENST00000402825.3	+	8	1317	c.1317C>A	c.(1315-1317)gaC>gaA	p.D439E	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D321E|ECE2_ENST00000359140.4_Missense_Mutation_p.D292E|ECE2_ENST00000357474.5_Missense_Mutation_p.D367E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	439	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.D292E(1)|p.D367E(1)|p.D439E(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)			AGCGGCGCGACGAGGAGAAGA	0.637																																						uc003fni.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)	4						c.(1315-1317)GAC>GAA		endothelin converting enzyme 2 isoform A							78.0	67.0	71.0					3																	184001719		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.chr3:184001719C>A	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.1317C>A	3.37:g.184001719C>A	ENSP00000384223:p.Asp439Glu					ECE2_uc011brh.1_Missense_Mutation_p.D292E|ECE2_uc003fnl.3_Missense_Mutation_p.D367E|ECE2_uc003fnm.3_Missense_Mutation_p.D321E|ECE2_uc003fnk.3_Missense_Mutation_p.D292E|ECE2_uc011bri.1_Missense_Mutation_p.D354E|ECE2_uc010hxv.2_Missense_Mutation_p.D83E	p.D439E	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1355	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		439			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1317C>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146801	0.57151	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	4.3	-8.6	0.00889	Peptidase M13 (1);	0.051185	0.85682	N	0.000000	D	0.90314	0.6970	M	0.84846	2.72	0.37614	D	0.921046	D;D;B;B;D;D;D	0.76494	0.999;0.999;0.03;0.011;0.998;0.998;0.999	D;D;B;B;D;D;D	0.78314	0.991;0.991;0.041;0.01;0.985;0.985;0.991	D	0.92401	0.5929	10	0.87932	D	0	-15.5575	15.7618	0.78087	0.0:0.6174:0.0:0.3826	.	41;292;310;321;367;292;439	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	E	439;292;321;367;313	ENSP00000384223:D439E;ENSP00000352052:D292E;ENSP00000385846:D321E;ENSP00000350066:D367E;ENSP00000398444:D313E	ENSP00000350066:D367E	D	+	3	2	ECE2	185484413	0.000000	0.05858	0.258000	0.24420	0.908000	0.53690	-4.249000	0.00266	-1.847000	0.01173	-1.929000	0.00512	GAC		PASS	0.637	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		6	46	6	46	---	---	---	---
GAK	2580	broad.mit.edu	37	4	853458	853458	+	Silent	SNP	G	G	A	rs201241614		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:853458G>A	ENST00000314167.4	-	24	3329	c.3219C>T	c.(3217-3219)agC>agT	p.S1073S	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.S994S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1073					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1073S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ACTTGGTCCAGCTGGCCTGAG	0.607																																						uc003gbm.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(3217-3219)AGC>AGT		cyclin G associated kinase							57.0	62.0	61.0					4																	853458		2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:853458G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3219C>T	4.37:g.853458G>A						GAK_uc003gbn.3_Silent_p.S994S|GAK_uc010ibi.2_Silent_p.S254S|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Silent_p.S926S	p.S1073S	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	24	3418	-			1073					Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.3219C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792546	0.16258	.	.	ENSG00000178950	ENST00000511980	.	.	.	4.68	3.82	0.43975	.	.	.	.	.	T	0.60143	0.2246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57768	-0.7754	4	.	.	.	-13.9337	9.8295	0.40932	0.1024:0.0:0.8976:0.0	.	.	.	.	V	185	.	.	A	-	2	0	GAK	843458	0.292000	0.24362	0.710000	0.30468	0.693000	0.40251	0.869000	0.27996	2.132000	0.65825	0.511000	0.50034	GCT		PASS	0.607	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		16	84	16	84	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	37962456	37962456	+	Intron	SNP	G	G	A	rs199864421		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:37962456G>A	ENST00000261439.4	+	3	772				PTTG2_ENST00000504686.1_Missense_Mutation_p.R134H|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.R134H(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCTGAAGAGCGCCAGATTGCA	0.488																																						uc011bye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)CGC>CAC		pituitary tumor-transforming 2		A	HIS/ARG,	0,4406		0,0,2203	102.0	104.0	104.0		401,	-2.3	0.2	4		104	2,8598	2.2+/-6.3	0,2,4298	yes	missense,intron	PTTG2,TBC1D1	NM_006607.2,NM_015173.2	29,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,	134/192,	37962456	2,13004	2203	4300	6503	SO:0001627	intron_variant	10744				chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding	g.chr4:37962456G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53674G>A	4.37:g.37962456G>A						TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	p.R134H	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN			1	401	+			134					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.401G>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	g	0.601	-0.828943	0.02734	0.0	2.33E-4	ENSG00000250254	ENST00000504686	T	0.39056	1.1	1.23	-2.34	0.06704	.	.	.	.	.	T	0.05960	0.0155	N	0.00044	-2.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	9	0.02654	T	1	.	5.0991	0.14749	0.7869:0.0:0.2131:0.0	.	134	Q9NZH5-2	.	H	134	ENSP00000424261:R134H	ENSP00000424261:R134H	R	+	2	0	PTTG2	37638851	0.091000	0.21658	0.152000	0.22495	0.071000	0.16799	-0.244000	0.08903	-0.485000	0.06754	-1.813000	0.00610	CGC		PASS	0.488	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		23	131	23	131	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47602230	47602230	+	Splice_Site	SNP	C	C	G	rs532698694		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:47602230C>G	ENST00000273857.4	-	21	2946		c.e21+1		CORIN_ENST00000508498.1_Splice_Site|CORIN_ENST00000502252.1_Splice_Site|CORIN_ENST00000505909.1_Splice_Site	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase						female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.?(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGCAACTTACCATGCATGAA	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16769	0.0		0.0	False		,,,				2504	0.0					uc003gxm.2																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e21+1		corin							128.0	117.0	120.0					4																	47602230		2203	4300	6503	SO:0001630	splice_region_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47602230C>G	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2946+1G>C	4.37:g.47602230C>G						CORIN_uc011bzf.1_Splice_Site_p.M843_splice|CORIN_uc011bzg.1_Splice_Site_p.M915_splice	p.M982_splice	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			21	3039	-								B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Splice_Site	SNP	ENST00000273857.4	37	c.2946_splice	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754356	0.49362	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9215	0.97087	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CORIN	47296987	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	7.638000	0.83328	2.785000	0.95823	0.655000	0.94253	.		PASS	0.398	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		Intron	11	81	11	81	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57204949	57204949	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:57204949C>G	ENST00000205214.6	-	15	3096	c.2916G>C	c.(2914-2916)caG>caC	p.Q972H	AASDH_ENST00000513376.1_Missense_Mutation_p.Q872H|AASDH_ENST00000451613.1_Missense_Mutation_p.V833L|AASDH_ENST00000434343.2_Missense_Mutation_p.Q487H|AASDH_ENST00000602986.1_Missense_Mutation_p.V765L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	972					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.Q972H(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGGTAGAGAACTGCCAAACCT	0.343																																						uc003hbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2914-2916)CAG>CAC		aminoadipate-semialdehyde dehydrogenase							34.0	35.0	35.0					4																	57204949		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57204949C>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2916G>C	4.37:g.57204949C>G	ENSP00000205214:p.Gln972His					AASDH_uc010ihb.2_Missense_Mutation_p.Q487H|AASDH_uc011caa.1_Missense_Mutation_p.V765L|AASDH_uc003hbo.2_Missense_Mutation_p.Q872H|AASDH_uc011cab.1_Missense_Mutation_p.Q487H|AASDH_uc010ihc.2_Missense_Mutation_p.V833L	p.Q972H	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			15	3069	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	972					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2916G>C	CCDS3504.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.79|19.79	3.892338|3.892338	0.72524|0.72524	.|.	.|.	ENSG00000157426|ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343|ENST00000451613;ENST00000503808	T;T;T|T	0.57107|0.55413	0.42;0.86;0.42|0.52	6.04|6.04	-0.986|-0.986	0.10252|0.10252	Quinonprotein alcohol dehydrogenase-like (2);|.	0.334562|.	0.36665|.	N|.	0.002466|.	T|T	0.35422|0.35422	0.0931|0.0931	L|L	0.49256|0.49256	1.55|1.55	0.19300|0.19300	N|N	0.999975|0.999975	B|B;B	0.24882|0.12013	0.113|0.005;0.005	B|B;B	0.26614|0.11329	0.071|0.006;0.004	T|T	0.32877|0.32877	-0.9890|-0.9890	10|9	0.38643|0.06625	T|T	0.18|0.88	-1.5534|-1.5534	3.718|3.718	0.08445|0.08445	0.093:0.4189:0.0948:0.3933|0.093:0.4189:0.0948:0.3933	.|.	972|765;833	Q4L235|E9PH98;Q4L235-4	ACSF4_HUMAN|.;.	H|L	972;872;487|833;765	ENSP00000205214:Q972H;ENSP00000423760:Q872H;ENSP00000392158:Q487H|ENSP00000409656:V833L	ENSP00000205214:Q972H|ENSP00000409656:V833L	Q|V	-|-	3|1	2|0	AASDH|AASDH	56899706|56899706	0.861000|0.861000	0.29849|0.29849	0.985000|0.985000	0.45067|0.45067	0.910000|0.910000	0.53928|0.53928	-0.108000|-0.108000	0.10857|0.10857	-0.267000|-0.267000	0.09325|0.09325	-0.156000|-0.156000	0.13503|0.13503	CAG|GTT		PASS	0.343	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		10	40	10	40	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71510196	71510196	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:71510196A>T	ENST00000396073.3	+	9	3334	c.3053A>T	c.(3052-3054)cAg>cTg	p.Q1018L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1018					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.Q1018L(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACTCCTGAGCAGCTTGTTATT	0.428																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3052-3054)CAG>CTG		enamelin precursor							122.0	109.0	113.0					4																	71510196		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510196A>T	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.3053A>T	4.37:g.71510196A>T	ENSP00000379383:p.Gln1018Leu						p.Q1018L	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3334	+			1018					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3053A>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	17.56	3.421060	0.62622	.	.	ENSG00000132464	ENST00000396073	T	0.38240	1.15	5.97	5.97	0.96955	.	0.127225	0.36134	N	0.002766	T	0.63141	0.2486	M	0.85945	2.785	0.36925	D	0.891612	D	0.76494	0.999	D	0.72075	0.976	T	0.74166	-0.3753	10	0.87932	D	0	-7.1332	12.8526	0.57867	1.0:0.0:0.0:0.0	.	1018	Q9NRM1	ENAM_HUMAN	L	1018	ENSP00000379383:Q1018L	ENSP00000379383:Q1018L	Q	+	2	0	ENAM	71729060	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.382000	0.52463	2.288000	0.76882	0.533000	0.62120	CAG		PASS	0.428	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		14	73	14	73	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76793293	76793293	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:76793293A>T	ENST00000286719.7	-	13	1890	c.1534T>A	c.(1534-1536)Tac>Aac	p.Y512N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	512	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.Y512N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACTTCATAGTAGTTGGAGGCA	0.473																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1534-1536)TAC>AAC		serine/threonine protein phosphatase with							91.0	83.0	86.0					4																	76793293		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76793293A>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1534T>A	4.37:g.76793293A>T	ENSP00000286719:p.Tyr512Asn					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.Y512N	p.Y512N	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		13	1891	-			512			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1534T>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220335	0.79464	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.37235	1.21	4.77	4.77	0.60923	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.94142	3.5	0.50813	D	0.999895	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.76865	-0.2801	10	0.59425	D	0.04	-2.9681	12.2982	0.54860	1.0:0.0:0.0:0.0	.	512;512	O14830-2;O14830	.;PPE2_HUMAN	N	512	ENSP00000286719:Y512N	ENSP00000286719:Y512N	Y	-	1	0	PPEF2	77012317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.477000	0.90424	2.002000	0.58637	0.402000	0.26972	TAC		PASS	0.473	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		16	38	16	38	---	---	---	---
LIN54	132660	broad.mit.edu	37	4	83857199	83857199	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:83857199G>A	ENST00000340417.3	-	11	2157	c.1780C>T	c.(1780-1782)Cgt>Tgt	p.R594C	LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000446851.2_Missense_Mutation_p.R373C|LIN54_ENST00000505397.1_Missense_Mutation_p.R594C|LIN54_ENST00000506560.1_Missense_Mutation_p.R505C|LIN54_ENST00000395283.2_Missense_Mutation_p.R505C|LIN54_ENST00000510557.1_Missense_Mutation_p.R373C|LIN54_ENST00000442461.2_Missense_Mutation_p.R373C	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	594	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.R594C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTGCTATGACGTCGATCAGAT	0.403																																						uc003hnx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1780-1782)CGT>TGT		lin-54 homolog isoform a							204.0	180.0	188.0					4																	83857199		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83857199G>A	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1780C>T	4.37:g.83857199G>A	ENSP00000341947:p.Arg594Cys					LIN54_uc003hnz.3_Missense_Mutation_p.R373C|LIN54_uc003hny.3_Missense_Mutation_p.R193C|LIN54_uc010ijt.2_Missense_Mutation_p.R505C|LIN54_uc010iju.2_Missense_Mutation_p.R193C|LIN54_uc010ijv.2_Missense_Mutation_p.R373C	p.R594C	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			11	2158	-		Hepatocellular(203;0.114)	594			CXC 2.		Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1780C>T	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514166	0.44763	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.36	5.36	0.76844	Tesmin/TSO1-like, CXC (1);	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.977	D;P;P	0.83275	0.996;0.609;0.725	D	0.83617	0.0137	9	0.87932	D	0	-15.2952	13.5013	0.61457	0.0:0.0:0.7295:0.2705	.	505;466;594	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	C	594;505;373;373;373;505;594	.	ENSP00000341947:R594C	R	-	1	0	LIN54	84076223	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	2.851000	0.48302	2.779000	0.95612	0.650000	0.86243	CGT		PASS	0.403	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		30	123	30	123	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140439	96140439	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:96140439G>T	ENST00000453304.1	-	9	1674	c.1326C>A	c.(1324-1326)ctC>ctA	p.L442L	UNC5C_ENST00000506749.1_Silent_p.L461L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	442					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.L442L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAGCTGACGTGAGGTCTGGGG	0.507																																						uc003htp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1324-1326)CTC>CTA		unc5C precursor							192.0	192.0	192.0					4																	96140439		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140439G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1326C>A	4.37:g.96140439G>T						UNC5C_uc010ilc.1_Silent_p.L461L|UNC5C_uc003htq.2_Silent_p.L461L	p.L442L	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1480	-		Hepatocellular(203;0.114)	442			Cytoplasmic (Potential).		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1326C>A	CCDS3643.1																																																																																				PASS	0.507	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		47	189	47	189	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115749016	115749016	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:115749016G>T	ENST00000264363.2	-	14	3253	c.2575C>A	c.(2575-2577)Cct>Act	p.P859T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	859	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.P859T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GATGGCAGAGGCTGTCCCAGT	0.403																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2575-2577)CCT>ACT		heparan sulfate N-deacetylase/N-sulfotransferase							112.0	109.0	110.0					4																	115749016		2203	4299	6502	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115749016G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2575C>A	4.37:g.115749016G>T	ENSP00000264363:p.Pro859Thr					NDST4_uc010imw.2_RNA	p.P859T	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	14	3254	-		Ovarian(17;0.156)	859			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2575C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017974	0.75275	.	.	ENSG00000138653	ENST00000264363	T	0.54675	0.56	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.43757	1.38	0.80722	D	1	B	0.23490	0.086	B	0.26094	0.066	T	0.40646	-0.9552	10	0.33141	T	0.24	.	18.7903	0.91971	0.0:0.0:1.0:0.0	.	859	Q9H3R1	NDST4_HUMAN	T	859	ENSP00000264363:P859T	ENSP00000264363:P859T	P	-	1	0	NDST4	115968465	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.401000	0.79962	2.446000	0.82766	0.544000	0.68410	CCT		PASS	0.403	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		16	59	16	59	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997560	115997560	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:115997560C>G	ENST00000264363.2	-	2	1311	c.633G>C	c.(631-633)gaG>gaC	p.E211D		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	211	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.E211D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GAGGGCCTTTCTCAACCTTGG	0.408																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(631-633)GAG>GAC		heparan sulfate N-deacetylase/N-sulfotransferase							72.0	73.0	72.0					4																	115997560		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997560C>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.633G>C	4.37:g.115997560C>G	ENSP00000264363:p.Glu211Asp					NDST4_uc010imw.2_Intron	p.E211D	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1312	-		Ovarian(17;0.156)	211			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.633G>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	5.865	0.343832	0.11126	.	.	ENSG00000138653	ENST00000264363	T	0.37235	1.21	5.25	0.266	0.15617	.	0.098721	0.64402	N	0.000002	T	0.24005	0.0581	L	0.45051	1.395	0.28036	N	0.933955	B	0.09022	0.002	B	0.15484	0.013	T	0.13150	-1.0520	10	0.30854	T	0.27	.	5.0936	0.14721	0.0:0.4503:0.2587:0.291	.	211	Q9H3R1	NDST4_HUMAN	D	211	ENSP00000264363:E211D	ENSP00000264363:E211D	E	-	3	2	NDST4	116217009	0.868000	0.29978	0.434000	0.26772	0.981000	0.71138	0.122000	0.15687	-0.314000	0.08716	-0.216000	0.12614	GAG		PASS	0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		7	72	7	72	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119203396	119203396	+	Nonsense_Mutation	SNP	G	G	A	rs201069442		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:119203396G>A	ENST00000296498.3	-	13	2605	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	PRSS12_ENST00000510903.1_5'Flank|SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	775	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R775*(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAATAGGCTCGTCCTACTCAG	0.393													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20714	0.0		0.0	False		,,,				2504	0.0					uc003ica.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2323-2325)CGA>TGA		neurotrypsin precursor							109.0	108.0	108.0					4																	119203396		2203	4300	6503	SO:0001587	stop_gained	8492					membrane	scavenger receptor activity	g.chr4:119203396G>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2323C>T	4.37:g.119203396G>A	ENSP00000296498:p.Arg775*						p.R775*	NM_003619	NP_003610	P56730	NETR_HUMAN			13	2370	-			775			Peptidase S1.		Q9UP16	Nonsense_Mutation	SNP	ENST00000296498.3	37	c.2323C>T	CCDS3709.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	39	7.650399	0.98412	.	.	ENSG00000164099	ENST00000296498	.	.	.	6.08	4.29	0.51040	.	0.184725	0.48286	D	0.000200	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4212	0.75011	0.0:0.0:0.4737:0.5263	.	.	.	.	X	775	.	ENSP00000296498:R775X	R	-	1	2	PRSS12	119422844	0.868000	0.29978	0.998000	0.56505	0.525000	0.34531	1.961000	0.40432	0.831000	0.34780	0.591000	0.81541	CGA		PASS	0.393	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			17	75	17	75	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126239746	126239746	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:126239746G>A	ENST00000394329.3	+	1	2193	c.2180G>A	c.(2179-2181)aGc>aAc	p.S727N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	727	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S727N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCAAATATAGCATATCTGCT	0.463																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2179-2181)AGC>AAC		FAT tumor suppressor homolog 4 precursor							77.0	77.0	77.0					4																	126239746		1990	4167	6157	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239746G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2180G>A	4.37:g.126239746G>A	ENSP00000377862:p.Ser727Asn						p.S727N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2180	+			727			Cadherin 7.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2180G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.80	2.343819	0.41498	.	.	ENSG00000196159	ENST00000394329	T	0.03065	4.06	5.28	3.48	0.39840	Cadherin (4);Cadherin-like (1);	0.000000	0.39985	U	0.001201	T	0.11410	0.0278	M	0.84585	2.705	0.09310	N	1	P	0.41188	0.741	P	0.45712	0.491	T	0.09228	-1.0684	10	0.23302	T	0.38	.	16.1122	0.81271	0.0:0.5258:0.4742:0.0	.	727	Q6V0I7	FAT4_HUMAN	N	727	ENSP00000377862:S727N	ENSP00000377862:S727N	S	+	2	0	FAT4	126459196	0.344000	0.24827	0.007000	0.13788	0.461000	0.32589	2.333000	0.43912	0.554000	0.29061	0.655000	0.94253	AGC		PASS	0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	49	10	49	---	---	---	---
GLRB	2743	broad.mit.edu	37	4	158057978	158057978	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:158057978C>A	ENST00000264428.4	+	6	820	c.550C>A	c.(550-552)Cct>Act	p.P184T	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.P184T|GLRB_ENST00000541722.1_Missense_Mutation_p.P184T	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	184					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.P184T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TCTTTCATGCCCTTTGGACTT	0.333																																						uc003ipj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(550-552)CCT>ACT		glycine receptor, beta isoform A precursor	Glycine(DB00145)						122.0	121.0	122.0					4																	158057978		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158057978C>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.550C>A	4.37:g.158057978C>A	ENSP00000264428:p.Pro184Thr						p.P184T	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	6	752	+	all_hematologic(180;0.24)	Renal(120;0.0458)	184			Extracellular (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.550C>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202576	0.58234	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.79653	-1.29;-1.29;-1.29	5.66	5.66	0.87406	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.151987	0.64402	D	0.000011	D	0.89354	0.6691	M	0.75447	2.3	0.58432	D	0.999997	D	0.76494	0.999	D	0.69824	0.966	D	0.88959	0.3392	10	0.49607	T	0.09	.	18.5012	0.90882	0.0:1.0:0.0:0.0	.	184	P48167	GLRB_HUMAN	T	184	ENSP00000264428:P184T;ENSP00000441873:P184T;ENSP00000427186:P184T	ENSP00000264428:P184T	P	+	1	0	GLRB	158277428	0.323000	0.24643	0.987000	0.45799	0.047000	0.14425	2.646000	0.46630	2.658000	0.90341	0.650000	0.86243	CCT		PASS	0.333	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		16	53	16	53	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393795	164393795	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:164393795T>C	ENST00000280605.3	-	1	1252	c.1092A>G	c.(1090-1092)atA>atG	p.I364M		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	364						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.I364M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TAATACACTCTATGAAACGCT	0.438																																						uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1090-1092)ATA>ATG		transketolase-like 2							100.0	100.0	100.0					4																	164393795		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393795T>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1092A>G	4.37:g.164393795T>C	ENSP00000280605:p.Ile364Met						p.I364M	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1253	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	364					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1092A>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541971	0.45280	.	.	ENSG00000151005	ENST00000280605	D	0.92805	-3.11	4.15	-1.33	0.09172	Transketolase-like, pyrimidine-binding domain (2);	0.057912	0.64402	D	0.000003	D	0.94918	0.8357	M	0.88842	2.985	0.58432	D	0.999994	D	0.71674	0.998	D	0.77004	0.989	D	0.92053	0.5650	10	0.87932	D	0	-13.3566	6.0631	0.19848	0.2293:0.0:0.5301:0.2406	.	364	Q9H0I9	TKTL2_HUMAN	M	364	ENSP00000280605:I364M	ENSP00000280605:I364M	I	-	3	3	TKTL2	164613245	0.378000	0.25114	0.971000	0.41717	0.834000	0.47266	-0.343000	0.07791	-0.183000	0.10585	0.533000	0.62120	ATA		PASS	0.438	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		20	86	20	86	---	---	---	---
TRIM60	166655	broad.mit.edu	37	4	165962132	165962132	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:165962132C>A	ENST00000512596.1	+	3	1124	c.908C>A	c.(907-909)aCa>aAa	p.T303K	TRIM60_ENST00000508504.1_Missense_Mutation_p.T303K|TRIM60_ENST00000341062.5_Missense_Mutation_p.T303K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	303	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T303K(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GATCTCAACACAGCACATCCT	0.363																																						uc003iqy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(907-909)ACA>AAA		ring finger protein 129							87.0	92.0	90.0					4																	165962132		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165962132C>A	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.908C>A	4.37:g.165962132C>A	ENSP00000421142:p.Thr303Lys					TRIM60_uc010iqx.1_Missense_Mutation_p.T303K	p.T303K	NM_152620	NP_689833	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1078	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	303			B30.2/SPRY.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.908C>A	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374121	0.42105	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.55052	0.54;0.54;0.54	2.49	0.673	0.17941	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.43416	U	0.000574	T	0.75250	0.3824	H	0.95260	3.645	0.22521	N	0.999029	D	0.89917	1.0	D	0.87578	0.998	T	0.64715	-0.6342	10	0.87932	D	0	.	6.7711	0.23594	0.0:0.7341:0.0:0.2659	.	303	Q495X7	TRI60_HUMAN	K	303	ENSP00000421142:T303K;ENSP00000426496:T303K;ENSP00000343765:T303K	ENSP00000343765:T303K	T	+	2	0	TRIM60	166181582	0.370000	0.25047	0.001000	0.08648	0.002000	0.02628	3.764000	0.55264	0.127000	0.18452	-0.136000	0.14681	ACA		PASS	0.363	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		15	143	15	143	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177032734	177032734	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:177032734G>A	ENST00000280190.4	+	3	231	c.75G>A	c.(73-75)atG>atA	p.M25I	WDR17_ENST00000393643.2_Start_Codon_SNP_p.M1I|WDR17_ENST00000508596.1_Start_Codon_SNP_p.M1I|WDR17_ENST00000507824.2_Missense_Mutation_p.M25I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	25								p.M25I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGCAAACATGTCCCAGGTAA	0.438																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(73-75)ATG>ATA		WD repeat domain 17 isoform 1							136.0	126.0	129.0					4																	177032734		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032734G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.75G>A	4.37:g.177032734G>A	ENSP00000280190:p.Met25Ile					WDR17_uc003iuk.2_Missense_Mutation_p.M1I|WDR17_uc003ium.3_Missense_Mutation_p.M1I|WDR17_uc003iul.1_Missense_Mutation_p.M1I	p.M25I	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	3	231	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	25					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.75G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714455	0.89112	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.60920	0.2;0.23;0.15	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	N	0.24115	0.695	0.80722	D	1	D;D;D	0.57571	0.958;0.98;0.976	D;D;D	0.68483	0.943;0.958;0.943	T	0.69150	-0.5221	10	0.62326	D	0.03	-25.1462	19.1246	0.93376	0.0:0.0:1.0:0.0	.	1;25;25	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	I	1;1;25;1;25	ENSP00000422763:M1I;ENSP00000377258:M1I;ENSP00000280190:M25I	ENSP00000280190:M25I	M	+	3	0	WDR17	177269728	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.060000	0.93907	2.582000	0.87167	0.467000	0.42956	ATG		PASS	0.438	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			9	81	9	81	---	---	---	---
TUBB7P	56604	broad.mit.edu	37	4	190905411	190905411	+	IGR	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr4:190905411G>T								FRG1 (21052 upstream) : RNA5SP174 (30881 downstream)														p.S91S(1)|p.R92S(1)									GCAGCTCACGGGAAATGAAGT	0.652																																						uc011clg.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(271-273)TCC>TCA		tubulin, beta polypeptide 4, member Q							27.0	41.0	37.0					4																	190905411		2188	4293	6481	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190905411G>T																													4.37:g.190905411G>T							p.S91S	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	3	276	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	92						Silent	SNP		37	c.273C>A																																																																																				0	PASS	0.652									10	76	10	76	---	---	---	---
MARCH11	441061	broad.mit.edu	37	5	16090997	16090997	+	Splice_Site	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:16090997C>A	ENST00000332432.8	-	3	1086		c.e3+1		MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11						protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CATGGTCTTACCTATGCACAC	0.428																																						uc003jfo.2																			1	Unknown(1)		lung(1)		0						c.e3+1		membrane-associated ring finger (C3HC4) 11							89.0	87.0	87.0					5																	16090997		2008	4167	6175	SO:0001630	splice_region_variant	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16090997C>A	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.886+1G>T	5.37:g.16090997C>A						MARCH11_uc010itw.1_Intron	p.G296_splice	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			3	1099	-								A7E2S6	Splice_Site	SNP	ENST00000332432.8	37	c.886_splice	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697576	0.88830	.	.	ENSG00000183654	ENST00000332432	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4713	0.94963	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MARCH11	16143997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	.		PASS	0.428	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562	Intron	18	55	18	55	---	---	---	---
AGXT2	64902	broad.mit.edu	37	5	35047982	35047982	+	Nonsense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:35047982T>A	ENST00000231420.6	-	1	216	c.16A>T	c.(16-18)Aga>Tga	p.R6*		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	6					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.R6*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	AGCAAATGTCTCCAGATTAGA	0.537																																						uc003jjf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(16-18)AGA>TGA		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						70.0	63.0	66.0					5																	35047982		2203	4300	6503	SO:0001587	stop_gained	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35047982T>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.16A>T	5.37:g.35047982T>A	ENSP00000231420:p.Arg6*					AGXT2_uc011com.1_Nonsense_Mutation_p.R6*|AGXT2_uc011con.1_5'UTR	p.R6*	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	1	95	-	all_lung(31;4.52e-05)		6					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Nonsense_Mutation	SNP	ENST00000231420.6	37	c.16A>T	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	T	40	7.972225	0.98588	.	.	ENSG00000113492	ENST00000231420	.	.	.	3.58	2.41	0.29592	.	2.892700	0.01035	N	0.004219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9609	5.688	0.17813	0.0:0.1237:0.0:0.8763	.	.	.	.	X	6	.	ENSP00000231420:R6X	R	-	1	2	AGXT2	35083739	1.000000	0.71417	0.971000	0.41717	0.954000	0.61252	1.736000	0.38187	0.739000	0.32628	0.454000	0.30748	AGA		PASS	0.537	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		8	48	8	48	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202365	39202365	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:39202365G>T	ENST00000351578.6	-	2	888	c.698C>A	c.(697-699)tCc>tAc	p.S233Y	FYB_ENST00000515010.1_Missense_Mutation_p.S233Y|FYB_ENST00000512982.1_Missense_Mutation_p.S233Y|FYB_ENST00000505428.1_Missense_Mutation_p.S233Y|FYB_ENST00000540520.1_Missense_Mutation_p.S243Y	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	233					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.S233Y(3)|p.S243Y(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCCGCTTTTGGACCTGACTCC	0.502																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(697-699)TCC>TAC		FYN binding protein (FYB-120/130) isoform 2							79.0	79.0	79.0					5																	39202365		1837	4082	5919	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202365G>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.698C>A	5.37:g.39202365G>T	ENSP00000316460:p.Ser233Tyr					FYB_uc003jlt.2_Missense_Mutation_p.S233Y|FYB_uc003jlu.2_Missense_Mutation_p.S233Y|FYB_uc011cpl.1_Missense_Mutation_p.S243Y	p.S233Y	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	765	-	all_lung(31;0.000343)		233					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.698C>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	9.507	1.104733	0.20632	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.25414	1.8;1.8;1.81;1.81;1.8	6.07	5.2	0.72013	.	0.777035	0.12604	N	0.454460	T	0.29223	0.0727	L	0.40543	1.245	0.09310	N	0.999996	P;P	0.49447	0.924;0.498	P;B	0.44732	0.459;0.177	T	0.12708	-1.0537	10	0.62326	D	0.03	-2.2584	15.1212	0.72443	0.0673:0.0:0.9327:0.0	.	243;233	B4DLN2;O15117	.;FYB_HUMAN	Y	233;233;233;233;243;233	ENSP00000316460:S233Y;ENSP00000426346:S233Y;ENSP00000425845:S233Y;ENSP00000427114:S233Y;ENSP00000442840:S243Y	ENSP00000316460:S233Y	S	-	2	0	FYB	39238122	0.326000	0.24669	0.021000	0.16686	0.241000	0.25554	1.004000	0.29822	1.570000	0.49709	0.655000	0.94253	TCC		PASS	0.502	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		40	198	40	198	---	---	---	---
C7	730	broad.mit.edu	37	5	40950040	40950040	+	Silent	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:40950040C>G	ENST00000313164.9	+	9	1376	c.1017C>G	c.(1015-1017)tcC>tcG	p.S339S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	339	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.S339S(1)					Ovarian(839;0.0112)				AATGTAAATCCTCAGGTTGGC	0.353																																						uc003jmh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1015-1017)TCC>TCG		complement component 7 precursor							60.0	58.0	58.0					5																	40950040		1823	4079	5902	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40950040C>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1017C>G	5.37:g.40950040C>G						C7_uc011cpn.1_RNA	p.S339S	NM_000587	NP_000578	P10643	CO7_HUMAN			9	1131	+		Ovarian(839;0.0112)	339			MACPF.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.1017C>G	CCDS47201.1																																																																																				PASS	0.353	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			11	31	11	31	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41032884	41032884	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:41032884G>T	ENST00000399564.4	-	24	2851	c.2401C>A	c.(2401-2403)Cct>Act	p.P801T	MROH2B_ENST00000506092.2_Missense_Mutation_p.P356T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	801								p.P801T(1)									CACCGAATAGGGCTAGCTAAG	0.398																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2401-2403)CCT>ACT		HEAT repeat family member 7B2							70.0	64.0	66.0					5																	41032884		1839	4088	5927	SO:0001583	missense	133558						binding	g.chr5:41032884G>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.2401C>A	5.37:g.41032884G>T	ENSP00000382476:p.Pro801Thr					HEATR7B2_uc003jmi.3_Missense_Mutation_p.P356T	p.P801T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			24	2891	-			801			HEAT 9.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2401C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006184	0.74932	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.06449	3.3;3.3	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.56097	D	0.000039	T	0.24736	0.0600	M	0.72118	2.19	0.44500	D	0.997446	D	0.89917	1.0	D	0.87578	0.998	T	0.00040	-1.2235	10	0.56958	D	0.05	.	15.528	0.75928	0.0:0.0:1.0:0.0	.	801	Q7Z745	HTRB2_HUMAN	T	356;506;801	ENSP00000441504:P356T;ENSP00000382476:P801T	ENSP00000296803:P506T	P	-	1	0	HEATR7B2	41068641	1.000000	0.71417	0.653000	0.29593	0.967000	0.64934	4.860000	0.62961	2.733000	0.93635	0.655000	0.94253	CCT		PASS	0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		13	39	13	39	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262787	45262787	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:45262787C>A	ENST00000303230.4	-	8	1966	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	637					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.A637S(1)|p.A637T(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						TTGATGGGAGCGATTGCCTGC	0.483																																						uc003jok.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(1909-1911)GCT>TCT		hyperpolarization activated cyclic							177.0	158.0	164.0					5																	45262787		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262787C>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.1909G>T	5.37:g.45262787C>A	ENSP00000307342:p.Ala637Ser						p.A637S	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	1934	-			637			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1909G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860481	0.02610	.	.	ENSG00000164588	ENST00000303230	T	0.41400	1.0	5.91	3.12	0.35913	.	0.284783	0.29653	N	0.011551	T	0.29190	0.0726	L	0.33485	1.01	0.24732	N	0.993086	B	0.10296	0.003	B	0.09377	0.004	T	0.16778	-1.0391	10	0.24483	T	0.36	.	9.9165	0.41436	0.0:0.6591:0.271:0.0699	.	637	O60741	HCN1_HUMAN	S	637	ENSP00000307342:A637S	ENSP00000307342:A637S	A	-	1	0	HCN1	45298544	0.920000	0.31207	0.793000	0.32043	0.385000	0.30292	1.198000	0.32223	0.376000	0.24707	-0.140000	0.14226	GCT		PASS	0.483	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		8	122	8	122	---	---	---	---
RAD17	5884	broad.mit.edu	37	5	68692239	68692239	+	Missense_Mutation	SNP	A	A	T	rs148563193		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:68692239A>T	ENST00000509734.1	+	15	2149	c.1471A>T	c.(1471-1473)Agg>Tgg	p.R491W	RAD17_ENST00000282891.6_Missense_Mutation_p.R394W|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.R491W|RAD17_ENST00000361732.2_Missense_Mutation_p.R480W|RAD17_ENST00000358030.2_Missense_Mutation_p.R315W|RAD17_ENST00000305138.4_Missense_Mutation_p.R480W|RAD17_ENST00000345306.6_Missense_Mutation_p.R480W|RAD17_ENST00000354312.3_Missense_Mutation_p.R480W|RAD17_ENST00000354868.5_Missense_Mutation_p.R480W|RAD17_ENST00000521422.1_Missense_Mutation_p.R315W			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	491	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R480W(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CTCTTTACTCAGGGAATATAG	0.388								Other conserved DNA damage response genes																														uc003jwo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1471-1473)AGG>TGG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD17 homolog isoform 2							71.0	64.0	66.0					5																	68692239		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692239A>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1471A>T	5.37:g.68692239A>T	ENSP00000426191:p.Arg491Trp					RAD17_uc003jwg.2_Missense_Mutation_p.R480W|RAD17_uc003jwh.2_Missense_Mutation_p.R480W|RAD17_uc003jwi.2_Missense_Mutation_p.R480W|RAD17_uc003jwj.2_Missense_Mutation_p.R480W|RAD17_uc003jwk.2_Missense_Mutation_p.R480W|RAD17_uc003jwl.2_Missense_Mutation_p.R480W|RAD17_uc003jwm.2_Missense_Mutation_p.R315W|RAD17_uc003jwn.2_Missense_Mutation_p.R394W|RAD17_uc003jwp.2_Missense_Mutation_p.R51W	p.R491W	NM_133339	NP_579917	O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	13	1533	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	491			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1471A>T	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.800111	0.70567	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.24	1.39	0.22231	.	0.468333	0.25302	N	0.031650	T	0.40839	0.1133	L	0.50333	1.59	0.33813	D	0.62809	D;D;D	0.71674	0.998;0.997;0.997	D;P;D	0.67900	0.954;0.882;0.924	T	0.51505	-0.8697	10	0.66056	D	0.02	-17.2549	5.7712	0.18253	0.5794:0.2651:0.1555:0.0	.	491;394;480	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	W	480;491;480;315;480;480;480;394;315;491;99	ENSP00000355226:R480W;ENSP00000426191:R491W;ENSP00000346938:R480W;ENSP00000427743:R315W;ENSP00000346271:R480W;ENSP00000311227:R480W;ENSP00000303134:R480W;ENSP00000282891:R394W;ENSP00000350725:R315W;ENSP00000370151:R491W;ENSP00000425005:R99W	ENSP00000282891:R394W	R	+	1	2	RAD17	68727995	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.407000	0.34657	0.365000	0.24400	0.455000	0.32223	AGG		PASS	0.388	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		5	26	5	26	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86672713	86672713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:86672713G>T	ENST00000274376.6	+	17	2764	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	RASA1_ENST00000456692.2_Nonsense_Mutation_p.E557*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Nonsense_Mutation_p.E567*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.E568*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	734					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.E734*(1)|p.E557*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACTGCAAAAGGAACTTCATGT	0.358																																						uc003kiw.2																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2200-2202)GAA>TAA		RAS p21 protein activator 1 isoform 1							120.0	112.0	114.0					5																	86672713		2203	4300	6503	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672713G>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2200G>T	5.37:g.86672713G>T	ENSP00000274376:p.Glu734*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.E557*|RASA1_uc011ctv.1_Nonsense_Mutation_p.E567*|RASA1_uc011ctw.1_Nonsense_Mutation_p.E568*|RASA1_uc010jaw.2_Nonsense_Mutation_p.E556*	p.E734*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	17	2318	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	734					B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.2200G>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	40	8.116033	0.98662	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.06	5.06	0.68205	.	0.139520	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.7879	0.91963	0.0:0.0:1.0:0.0	.	.	.	.	X	734;767;557;567;568	.	ENSP00000274376:E734X	E	+	1	0	RASA1	86708469	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.753000	0.98904	2.512000	0.84698	0.462000	0.41574	GAA		PASS	0.358	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		18	48	18	48	---	---	---	---
P4HA2	8974	broad.mit.edu	37	5	131530683	131530683	+	Silent	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:131530683C>G	ENST00000401867.1	-	15	2041	c.1473G>C	c.(1471-1473)cgG>cgC	p.R491R	P4HA2_ENST00000379086.1_Silent_p.R489R|P4HA2_ENST00000379100.2_Silent_p.R489R|P4HA2_ENST00000379104.2_Silent_p.R491R|P4HA2_ENST00000166534.4_Silent_p.R491R|P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000360568.3_Silent_p.R489R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	491	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.R491R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTTCCCCGCTCCGCAAGAGGT	0.542																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1471-1473)CGG>CGC		prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)						184.0	148.0	160.0					5																	131530683		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131530683C>G	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1473G>C	5.37:g.131530683C>G						P4HA2_uc003kwg.2_Silent_p.R489R|P4HA2_uc003kwi.2_Silent_p.R489R|P4HA2_uc003kwk.2_Silent_p.R489R|P4HA2_uc003kwl.2_Silent_p.R491R|P4HA2_uc003kwj.2_Silent_p.R489R	p.R491R	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2037	-		all_cancers(142;0.103)|Breast(839;0.198)	491			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.1473G>C	CCDS4151.1																																																																																				PASS	0.542	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		19	54	19	54	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502062	140502062	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:140502062T>A	ENST00000194152.1	+	1	482	c.482T>A	c.(481-483)gTg>gAg	p.V161E	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	161	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V161E(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATTTGGATGTGGGCAGCAAT	0.423																																						uc003lip.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(481-483)GTG>GAG		protocadherin beta 4 precursor							54.0	57.0	56.0					5																	140502062		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502062T>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.482T>A	5.37:g.140502062T>A	ENSP00000194152:p.Val161Glu						p.V161E	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	482	+			161			Cadherin 2.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.482T>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.303564	0.23736	.	.	ENSG00000081818	ENST00000194152	T	0.48201	0.82	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60117	0.2244	L	0.60455	1.87	0.32699	N	0.513085	P	0.48764	0.915	P	0.60473	0.875	T	0.69558	-0.5113	9	0.66056	D	0.02	.	10.5038	0.44821	0.0:0.0794:0.0:0.9206	.	161	Q9Y5E5	PCDB4_HUMAN	E	161	ENSP00000194152:V161E	ENSP00000194152:V161E	V	+	2	0	PCDHB4	140482246	0.018000	0.18449	1.000000	0.80357	0.487000	0.33371	2.079000	0.41577	2.033000	0.60031	0.533000	0.62120	GTG		PASS	0.423	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		18	34	18	34	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588483	140588483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:140588483G>T	ENST00000239450.2	+	1	193	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	2					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E2*(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAGCTATGGAAAACGGAGG	0.488																																						uc003liz.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4-6)GAA>TAA		protocadherin beta 12 precursor							81.0	85.0	84.0					5																	140588483		2203	4300	6503	SO:0001587	stop_gained	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588483G>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.4G>T	5.37:g.140588483G>T	ENSP00000239450:p.Glu2*					PCDHB12_uc011dak.1_5'UTR	p.E2*	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	193	+			2					B4DDU1	Nonsense_Mutation	SNP	ENST00000239450.2	37	c.4G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016130	0.93404	.	.	ENSG00000120328	ENST00000239450	.	.	.	4.0	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	6.9498	0.24538	0.1754:0.0:0.6833:0.1414	.	.	.	.	X	2	.	ENSP00000239450:E2X	E	+	1	0	PCDHB12	140568667	0.720000	0.27996	0.754000	0.31244	0.391000	0.30476	1.388000	0.34442	0.752000	0.32923	0.561000	0.74099	GAA		PASS	0.488	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		23	71	23	71	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140752099	140752099	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:140752099T>C	ENST00000576222.1	+	1	2269	c.2138T>C	c.(2137-2139)cTg>cCg	p.L713P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	713					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAATCTCCCTGCGCCTGCGA	0.582																																						uc003ljw.1																			0					0						c.(2137-2139)CTG>CCG		protocadherin gamma subfamily B, 3 isoform 1							70.0	77.0	75.0					5																	140752099		2074	4219	6293	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140752099T>C	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2138T>C	5.37:g.140752099T>C	ENSP00000461862:p.Leu713Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.L713P|PCDHGA6_uc011dau.1_5'Flank	p.L713P	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2138	+			713			Cytoplasmic (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2138T>C	CCDS58980.1																																																																																				PASS	0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		11	43	11	43	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140802039	140802039	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:140802039G>T	ENST00000398587.2	+	1	1278	c.1245G>T	c.(1243-1245)ttG>ttT	p.L415F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.L415F|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L415F(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGGAGTTGGTCCAGAGCT	0.428																																						uc003lkq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1243-1245)TTG>TTT		protocadherin gamma subfamily A, 11 isoform 1							86.0	89.0	88.0					5																	140802039		1962	4135	6097	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802039G>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1245G>T	5.37:g.140802039G>T	ENSP00000381589:p.Leu415Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.L415F|PCDHGA11_uc003lkp.1_Missense_Mutation_p.L415F	p.L415F	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1503	+			415			Extracellular (Potential).|Cadherin 4.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1245G>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	6.818	0.519980	0.13005	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.01821	4.62;4.62	6.17	2.48	0.30137	Cadherin (4);Cadherin-like (1);	0.402479	0.13927	U	0.353158	T	0.02494	0.0076	L	0.59967	1.855	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.002	B;B;B	0.15870	0.008;0.014;0.008	T	0.40270	-0.9572	10	0.56958	D	0.05	.	5.9608	0.19299	0.328:0.1223:0.5497:0.0	.	415;415;415	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	F	415	ENSP00000381589:L415F;ENSP00000428333:L415F	ENSP00000381589:L415F	L	+	3	2	PCDHGA11	140782223	0.000000	0.05858	0.250000	0.24296	0.820000	0.46376	0.171000	0.16685	0.182000	0.20032	0.655000	0.94253	TTG		PASS	0.428	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		36	79	36	79	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	155771565	155771565	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:155771565A>C	ENST00000435422.3	+	2	554	c.67A>C	c.(67-69)Aag>Cag	p.K23Q	SGCD_ENST00000447401.1_Missense_Mutation_p.K24Q|SGCD_ENST00000337851.4_Missense_Mutation_p.K24Q|SGCD_ENST00000517913.1_Missense_Mutation_p.K24Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	23					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.K24Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGTATACAAGGTGGGGAT	0.502																																						uc003lwd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)AAG>CAG		delta-sarcoglycan isoform 3							112.0	117.0	116.0					5																	155771565		1952	4152	6104	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155771565A>C	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.67A>C	5.37:g.155771565A>C	ENSP00000403003:p.Lys23Gln					SGCD_uc003lwa.1_Missense_Mutation_p.K24Q|SGCD_uc003lwb.2_Missense_Mutation_p.K24Q|SGCD_uc003lwc.3_Missense_Mutation_p.K24Q	p.K23Q	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	543	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	23			Cytoplasmic (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.67A>C	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361157	0.61403	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.59	5.59	0.84812	.	0.047975	0.85682	N	0.000000	D	0.95487	0.8534	L	0.42245	1.32	0.48288	D	0.999627	D;D;D	0.76494	0.998;0.997;0.999	D;P;D	0.65874	0.939;0.899;0.929	D	0.95316	0.8416	10	0.45353	T	0.12	-5.8446	15.7811	0.78260	1.0:0.0:0.0:0.0	.	23;24;24	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	24;23;24;24	ENSP00000429378:K24Q;ENSP00000403003:K23Q;ENSP00000338343:K24Q;ENSP00000408324:K24Q	ENSP00000338343:K24Q	K	+	1	0	SGCD	155704143	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	6.001000	0.70685	2.123000	0.65237	0.533000	0.62120	AAG		PASS	0.502	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			19	59	19	59	---	---	---	---
B4GALT7	11285	broad.mit.edu	37	5	177036618	177036618	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr5:177036618G>T	ENST00000029410.5	+	6	1017	c.906G>T	c.(904-906)gtG>gtT	p.V302V	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	302					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)	p.V302V(1)		endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGTCTGTGGGCGGGGCCC	0.592																																						uc003mhy.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(904-906)GTG>GTT		xylosylprotein beta 1,4-galactosyltransferase 7							81.0	78.0	79.0					5																	177036618		2203	4300	6503	SO:0001819	synonymous_variant	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177036618G>T	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.906G>T	5.37:g.177036618G>T						B4GALT7_uc003mhz.2_Silent_p.V188V	p.V302V	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	946	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	302			Lumenal (Potential).		B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	c.906G>T	CCDS4429.1																																																																																				PASS	0.592	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		13	36	13	36	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7229882	7229882	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:7229882C>T	ENST00000349384.6	+	10	1864	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	RREB1_ENST00000379933.3_Missense_Mutation_p.T517M|RREB1_ENST00000334984.6_Missense_Mutation_p.T517M|RREB1_ENST00000379938.2_Missense_Mutation_p.T517M	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	517	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T517M(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACACCACGGACGGTGGTGGCC	0.677																																						uc003mxc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(1549-1551)ACG>ATG		ras responsive element binding protein 1 isoform							68.0	83.0	78.0					6																	7229882		2203	4299	6502	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229882C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1550C>T	6.37:g.7229882C>T	ENSP00000305560:p.Thr517Met					RREB1_uc003mxb.2_Missense_Mutation_p.T517M|RREB1_uc010jnx.2_Missense_Mutation_p.T517M	p.T517M	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	1940	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	517			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1550C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242391	0.58995	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.11930	2.82;2.79;2.82;2.73;2.87	5.67	5.67	0.87782	.	0.089646	0.47093	D	0.000258	T	0.30634	0.0771	M	0.65975	2.015	0.33988	D	0.648816	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.997;0.855	T	0.05338	-1.0891	10	0.87932	D	0	-28.1588	19.7629	0.96329	0.0:1.0:0.0:0.0	.	517;517;517	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	517	ENSP00000369265:T517M;ENSP00000369270:T517M;ENSP00000305560:T517M;ENSP00000335574:T517M;ENSP00000419511:T517M	ENSP00000335574:T517M	T	+	2	0	RREB1	7174881	0.987000	0.35691	0.427000	0.26684	0.920000	0.55202	3.879000	0.56138	2.666000	0.90696	0.561000	0.74099	ACG		PASS	0.677	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			36	121	36	121	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7583007	7583007	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:7583007C>T	ENST00000379802.3	+	24	5853	c.5512C>T	c.(5512-5514)Cgt>Tgt	p.R1838C	DSP_ENST00000418664.2_Missense_Mutation_p.R1239C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1838	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R1838C(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAGCTGAATCGTGCAAAATC	0.483																																						uc003mxp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(5512-5514)CGT>TGT		desmoplakin isoform I							114.0	118.0	117.0					6																	7583007		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583007C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5512C>T	6.37:g.7583007C>T	ENSP00000369129:p.Arg1838Cys					DSP_uc003mxq.1_Missense_Mutation_p.R1239C	p.R1838C	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5791	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1838			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5512C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609915	0.66558	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.65178	-0.14;-0.14	5.2	4.33	0.51752	.	0.120842	0.38778	N	0.001565	T	0.66005	0.2746	L	0.50333	1.59	0.48696	D	0.999692	D;D	0.89917	1.0;0.99	D;P	0.78314	0.991;0.451	T	0.71234	-0.4653	10	0.72032	D	0.01	.	13.4766	0.61312	0.0:0.9249:0.0:0.0751	.	1286;1838	Q4LE79;P15924	.;DESP_HUMAN	C	1838;1239	ENSP00000369129:R1838C;ENSP00000396591:R1239C	ENSP00000369129:R1838C	R	+	1	0	DSP	7528006	1.000000	0.71417	0.017000	0.16124	0.994000	0.84299	4.780000	0.62382	1.181000	0.42912	0.650000	0.86243	CGT		PASS	0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		29	134	29	134	---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30638192	30638193	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:30638192_30638193CC>AA	ENST00000376442.3	-	4	855_856	c.660_661GG>TT	c.(658-663)aaGGcc>aaTTcc	p.220_221KA>NS		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	220					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.K220N(1)|p.K220_A221>NS(1)|p.A221S(1)		kidney(2)|ovary(2)	4						CTCACCATGGCCTTCCGGTCTT	0.515																																						uc003nqz.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|kidney(2)	4						c.(661-663)GCC>TCC|c.(658-660)AAG>AAT		DEAH (Asp-Glu-Ala-His) box polypeptide 16																																				SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30638192C>A|g.chr6:30638193C>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.660_661delinsAA	6.37:g.30638192_30638193delinsAA	ENSP00000365625:p.K220_A221delinsNS					DHX16_uc011dmo.1_Missense_Mutation_p.A161S|DHX16_uc011dmo.1_Missense_Mutation_p.K160N	p.A221S|p.K220N	NM_003587	NP_003578	O60231	DHX16_HUMAN			4	873|872	-			221|220					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.661G>T|c.660G>T	CCDS4685.1																																																																																				PASS	0.515	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		5	21	5	21	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32037618	32037618	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:32037618C>T	ENST00000375244.3	-	15	5500	c.5299G>A	c.(5299-5301)Gat>Aat	p.D1767N	TNXB_ENST00000375247.2_Missense_Mutation_p.D1767N			P22105	TENX_HUMAN	tenascin XB	1849	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.D1854N(1)|p.D1767N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTTCCAGTATCATCCATAGCA	0.597																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(5299-5301)GAT>AAT		tenascin XB isoform 1 precursor							24.0	26.0	25.0					6																	32037618		1949	4146	6095	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037618C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5299G>A	6.37:g.32037618C>T	ENSP00000364393:p.Asp1767Asn						p.D1767N	NM_019105	NP_061978	P22105	TENX_HUMAN			15	5501	-			1849					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5299G>A		.	.	.	.	.	.	.	.	.	.	C	11.37	1.619641	0.28801	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55760	0.66;0.5	4.92	-3.16	0.05217	.	1.561280	0.03775	N	0.260433	T	0.11707	0.0285	N	0.15975	0.35	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.07271	-1.0781	10	0.17832	T	0.49	.	6.4596	0.21948	0.0:0.3817:0.321:0.2972	.	1767	P22105-3	.	N	1767	ENSP00000364393:D1767N;ENSP00000364396:D1767N	ENSP00000364393:D1767N	D	-	1	0	TNXB	32145596	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.442000	0.06871	-0.606000	0.05746	-0.479000	0.04858	GAT		PASS	0.597	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	26	4	26	---	---	---	---
C6orf222	389384	broad.mit.edu	37	6	36294340	36294340	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:36294340C>G	ENST00000437635.2	-	5	1160	c.983G>C	c.(982-984)aGc>aCc	p.S328T		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	328								p.S328T(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGCAGAAAGCTGGACTTCTT	0.597																																						uc003oly.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(982-984)AGC>ACC		hypothetical protein LOC389384							94.0	96.0	95.0					6																	36294340		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36294340C>G		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.983G>C	6.37:g.36294340C>G	ENSP00000418983:p.Ser328Thr						p.S328T	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			5	1161	-			328					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.983G>C	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	9.436	1.086916	0.20390	.	.	ENSG00000189325	ENST00000437635	T	0.56776	0.44	3.96	1.12	0.20585	.	0.717543	0.13248	N	0.402285	T	0.21801	0.0525	L	0.50333	1.59	0.21020	N	0.99981	P	0.36392	0.551	B	0.34489	0.184	T	0.12785	-1.0534	10	0.62326	D	0.03	-8.9385	3.9717	0.09455	0.0:0.5818:0.1983:0.2199	.	328	P0C671	CF222_HUMAN	T	328	ENSP00000418983:S328T	ENSP00000418983:S328T	S	-	2	0	C6orf222	36402318	0.947000	0.32204	0.360000	0.25837	0.468000	0.32798	-0.062000	0.11674	0.224000	0.20940	0.462000	0.41574	AGC		PASS	0.597	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		5	130	5	130	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45514572	45514572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:45514572G>T	ENST00000371438.1	+	8	1454	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	RUNX2_ENST00000371436.6_Nonsense_Mutation_p.E344*|RUNX2_ENST00000371432.3_Nonsense_Mutation_p.E330*|RUNX2_ENST00000541979.1_Nonsense_Mutation_p.E412*|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Nonsense_Mutation_p.E352*|RUNX2_ENST00000352853.5_Nonsense_Mutation_p.E434*|RUNX2_ENST00000465038.2_Nonsense_Mutation_p.E366*	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	366	Interaction with KAT6A. {ECO:0000250}.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E434*(1)|p.E366*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGGTGCTTCAGAACTGGGCCC	0.393																																						uc011dvx.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1096-1098)GAA>TAA		runt-related transcription factor 2 isoform a							79.0	83.0	81.0					6																	45514572		2203	4300	6503	SO:0001587	stop_gained	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514572G>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1096G>T	6.37:g.45514572G>T	ENSP00000360493:p.Glu366*					RUNX2_uc011dvy.1_Nonsense_Mutation_p.E344*|RUNX2_uc003oxt.2_Nonsense_Mutation_p.E352*	p.E366*	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			9	1306	+			366			Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Nonsense_Mutation	SNP	ENST00000371438.1	37	c.1096G>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538709	0.85917	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	.	.	.	5.77	4.91	0.64330	.	0.131490	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-7.6799	15.2163	0.73270	0.0675:0.0:0.9325:0.0	.	.	.	.	X	366;434;412;366;344;352;330	.	ENSP00000319087:E434X	E	+	1	0	RUNX2	45622550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	1.587000	0.49959	0.655000	0.94253	GAA		PASS	0.393	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		23	97	23	97	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57372301	57372302	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:57372301_57372302CC>AA	ENST00000607273.1	+	8	794_795	c.707_708CC>AA	c.(706-708)tCC>tAA	p.S236*	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	236					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.S236Y(1)|p.S236S(1)|p.S236*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ACAGCCAGGTCCTTGCCTGCTG	0.426																																						uc003pdx.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)		0						c.(706-708)TCC>TAC|c.(706-708)TCC>TCA		DNA primase polypeptide 2																																				SO:0001587	stop_gained	5558				DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57372301C>A|g.chr6:57372302C>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	Exception_encountered	6.37:g.57372301_57372302delinsAA	ENSP00000475738:p.Ser236*						p.S236Y|p.S236S	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	8	794|795	+			236					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation|Silent	SNP	ENST00000607273.1	37	c.707C>A|c.708C>A																																																																																					PASS	0.426	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		4	89|90	4	89	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62604622	62604622	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:62604622G>A	ENST00000281156.4	-	6	1006	c.728C>T	c.(727-729)cCt>cTt	p.P243L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	243	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.P243L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCGAGGGGTAGGGACACCTCT	0.577																																						uc003peg.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(727-729)CCT>CTT		KH domain-containing, RNA-binding, signal							56.0	56.0	56.0					6																	62604622		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604622G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.728C>T	6.37:g.62604622G>A	ENSP00000281156:p.Pro243Leu						p.P243L	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	975	-			243			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.728C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634280	0.29068	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.43688	0.94	5.52	5.52	0.82312	.	0.169262	0.52532	D	0.000068	T	0.21347	0.0514	N	0.25201	0.72	0.53688	D	0.99997	B	0.06786	0.001	B	0.06405	0.002	T	0.02358	-1.1171	10	0.42905	T	0.14	-0.0854	19.7889	0.96450	0.0:0.0:1.0:0.0	.	243	Q5VWX1	KHDR2_HUMAN	L	243	ENSP00000281156:P243L	ENSP00000281156:P243L	P	-	2	0	KHDRBS2	62662581	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	7.731000	0.84895	2.734000	0.93682	0.655000	0.94253	CCT		PASS	0.577	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		15	56	15	56	---	---	---	---
B3GAT2	135152	broad.mit.edu	37	6	71603972	71603972	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:71603972G>C	ENST00000230053.6	-	2	1203	c.595C>G	c.(595-597)Cga>Gga	p.R199G		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	199					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.R199G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CGGGTGGTTCGCATCTATAAA	0.502																																						uc003pfv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(595-597)CGA>GGA		beta-1,3-glucuronyltransferase 2							55.0	59.0	58.0					6																	71603972		2203	4300	6503	SO:0001583	missense	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71603972G>C	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.595C>G	6.37:g.71603972G>C	ENSP00000230053:p.Arg199Gly					B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R199G	p.R199G	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			2	1251	-			199			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	c.595C>G	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930938	0.52866	.	.	ENSG00000112309	ENST00000230053	T	0.57273	0.41	6.07	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.81901	-0.0720	10	0.87932	D	0	-12.3395	15.333	0.74229	0.0:0.0:0.634:0.366	.	127;199	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	G	199	ENSP00000230053:R199G	ENSP00000230053:R199G	R	-	1	2	B3GAT2	71660693	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	3.976000	0.56867	0.392000	0.25172	0.650000	0.86243	CGA		PASS	0.502	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		8	48	8	48	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90460227	90460227	+	Silent	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:90460227T>A	ENST00000369393.3	-	24	3367	c.3252A>T	c.(3250-3252)ggA>ggT	p.G1084G	MDN1_ENST00000428876.1_Silent_p.G1084G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1084					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G1084G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGATGTCTCTCCCTGAATCA	0.418																																						uc003pnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(3250-3252)GGA>GGT		MDN1, midasin homolog							230.0	220.0	223.0					6																	90460227		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90460227T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3252A>T	6.37:g.90460227T>A							p.G1084G	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	24	3368	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1084			ATP (Potential).		O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.3252A>T	CCDS5024.1																																																																																				PASS	0.418	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			55	278	55	278	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90604280	90604280	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:90604280C>T	ENST00000369352.1	+	1	93	c.93C>T	c.(91-93)atC>atT	p.I31I		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	31					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.I31I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCCTCTTCATCTTCCGAATGC	0.507																																						uc011eaa.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)ATC>ATT		gap junction protein, alpha 10							133.0	121.0	125.0					6																	90604280		2203	4300	6503	SO:0001819	synonymous_variant	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604280C>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.93C>T	6.37:g.90604280C>T							p.I31I	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	93	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	31			Helical; (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	c.93C>T	CCDS5025.1																																																																																				PASS	0.507	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		28	106	28	106	---	---	---	---
UFL1	23376	broad.mit.edu	37	6	97001374	97001374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:97001374G>T	ENST00000369278.4	+	19	2446	c.2380G>T	c.(2380-2382)Gag>Tag	p.E794*		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	794					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.E794*(1)									TGTGACGGAAGAGTAATGATC	0.378																																						uc003por.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2380-2382)GAG>TAG		hypothetical protein LOC23376																																				SO:0001587	stop_gained	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:97001374G>T	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.2380G>T	6.37:g.97001374G>T	ENSP00000358283:p.Glu794*					KIAA0776_uc010kck.2_RNA	p.E794*	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	19	2428	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	794					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Nonsense_Mutation	SNP	ENST00000369278.4	37	c.2380G>T	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	38	6.948137	0.97956	.	.	ENSG00000014123	ENST00000369278	.	.	.	5.53	4.65	0.58169	.	0.163440	0.52532	D	0.000074	.	.	.	.	.	.	0.48288	D	0.999627	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	16.7481	0.85478	0.0:0.1293:0.8707:0.0	.	.	.	.	X	794	.	ENSP00000358283:E794X	E	+	1	0	KIAA0776	97108095	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.281000	0.65609	1.449000	0.47699	0.650000	0.86243	GAG		PASS	0.378	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		7	34	7	34	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99283761	99283761	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:99283761T>A	ENST00000328345.5	+	1	1182	c.1012T>A	c.(1012-1014)Tcc>Acc	p.S338T		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	338					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S338T(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGCGGACTCGTCCTCGGGCAG	0.592																																						uc003ppe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)TCC>ACC		POU domain, class 3, transcription factor 2							98.0	103.0	101.0					6																	99283761		2203	4300	6503	SO:0001583	missense	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283761T>A	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1012T>A	6.37:g.99283761T>A	ENSP00000329170:p.Ser338Thr						p.S338T	NM_005604	NP_005595	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1182	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	338					Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	c.1012T>A	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	T	8.777	0.927411	0.18056	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.85773	-2.03	4.54	4.54	0.55810	Homeodomain-related (1);	0.085006	0.48286	U	0.000196	T	0.60051	0.2239	N	0.13003	0.285	0.45704	D	0.998616	B	0.11235	0.004	B	0.06405	0.002	T	0.59096	-0.7518	10	0.26408	T	0.33	.	12.9819	0.58568	0.0:0.0:0.0:1.0	.	338	P20265	PO3F2_HUMAN	T	338;271	ENSP00000329170:S338T	ENSP00000329170:S338T	S	+	1	0	POU3F2	99390482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.841000	0.48223	1.893000	0.54813	0.454000	0.30748	TCC		PASS	0.592	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			18	96	18	96	---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105609717	105609717	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:105609717T>C	ENST00000254765.3	-	2	346	c.68A>G	c.(67-69)cAa>cGa	p.Q23R	BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	23					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.Q23R(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TTCGGCCTCTTGCTTCCAGGT	0.428																																						uc003prb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(67-69)CAA>CGA		popeye protein 3							92.0	95.0	94.0					6																	105609717		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105609717T>C	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.68A>G	6.37:g.105609717T>C	ENSP00000254765:p.Gln23Arg					uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	p.Q23R	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			2	470	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	23					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.68A>G	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756938	0.31137	.	.	ENSG00000132429	ENST00000254765	T	0.46063	0.88	5.93	4.74	0.60224	.	0.629608	0.17512	N	0.171600	T	0.15132	0.0365	L	0.45581	1.43	0.24925	N	0.991953	B	0.11235	0.004	B	0.04013	0.001	T	0.15665	-1.0429	10	0.25106	T	0.35	-1.0974	7.8343	0.29362	0.1295:0.0:0.2699:0.6006	.	23	Q9HBV1	POPD3_HUMAN	R	23	ENSP00000254765:Q23R	ENSP00000254765:Q23R	Q	-	2	0	POPDC3	105716410	0.661000	0.27430	0.997000	0.53966	0.962000	0.63368	1.764000	0.38471	1.035000	0.39972	0.533000	0.62120	CAA		PASS	0.428	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		25	71	25	71	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106968998	106968998	+	Silent	SNP	C	C	G	rs200461385	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:106968998C>G	ENST00000369066.3	+	2	3178	c.2691C>G	c.(2689-2691)ccC>ccG	p.P897P		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.P897P(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATCTTCTGCCCGACAACTCCT	0.463																																						uc003prh.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(2689-2691)CCC>CCG		absent in melanoma 1							93.0	100.0	98.0					6																	106968998		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106968998C>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2691C>G	6.37:g.106968998C>G							p.P897P	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3178	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	897					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.2691C>G	CCDS34506.1																																																																																				PASS	0.463	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			31	121	31	121	---	---	---	---
HS3ST5	222537	broad.mit.edu	37	6	114383955	114383955	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:114383955G>T	ENST00000312719.5	-	4	1243	c.55C>A	c.(55-57)Ctt>Att	p.L19I	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.L19I			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	19					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.L19I(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCAACGGCAAGGCTTCCCAGC	0.532																																						uc003pwg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(55-57)CTT>ATT		heparan sulfate (glucosamine)							140.0	136.0	137.0					6																	114383955		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114383955G>T	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.55C>A	6.37:g.114383955G>T	ENSP00000427888:p.Leu19Ile					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.L19I	p.L19I	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	1	87	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	19			Helical; Signal-anchor for type II membrane protein; (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.55C>A	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098121	0.56183	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.49720	0.77;0.77	6.07	6.07	0.98685	.	0.184365	0.48286	D	0.000192	T	0.21145	0.0509	N	0.08118	0	0.48901	D	0.999721	B	0.06786	0.001	B	0.08055	0.003	T	0.05550	-1.0878	10	0.51188	T	0.08	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	19	Q8IZT8	HS3S5_HUMAN	I	19	ENSP00000427888:L19I;ENSP00000440332:L19I	ENSP00000427888:L19I	L	-	1	0	HS3ST5	114490648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.005000	0.76323	2.885000	0.99019	0.655000	0.94253	CTT		PASS	0.532	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		36	100	36	100	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138657493	138657493	+	Missense_Mutation	SNP	T	T	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:138657493T>G	ENST00000251691.4	+	34	6570	c.6404T>G	c.(6403-6405)tTc>tGc	p.F2135C		NM_020340.4	NP_065073.3			KIAA1244									p.F2064C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCAGACCTTCACGGCCCTC	0.542																																						uc003qhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(6403-6405)TTC>TGC		brefeldin A-inhibited guanine							154.0	141.0	146.0					6																	138657493		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138657493T>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6404T>G	6.37:g.138657493T>G	ENSP00000251691:p.Phe2135Cys						p.F2135C	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	34	6404	+	Breast(32;0.135)		2135						Missense_Mutation	SNP	ENST00000251691.4	37	c.6404T>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814614	0.90790	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.52983	0.64	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	N	0.19112	0.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.57499	-0.7801	10	0.87932	D	0	-44.5369	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2135	Q5TH69	BIG3_HUMAN	C	2135;176	ENSP00000251691:F2135C	ENSP00000251691:F2135C	F	+	2	0	KIAA1244	138699186	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.841000	0.86834	2.371000	0.80710	0.533000	0.62120	TTC		PASS	0.542	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		40	147	40	147	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151672155	151672155	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:151672155G>A	ENST00000253332.1	+	3	2818	c.2629G>A	c.(2629-2631)Gcc>Acc	p.A877T	AKAP12_ENST00000402676.2_Missense_Mutation_p.A877T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A772T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A779T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	877					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.A877T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCAGAAGGCAGCCACTGAGGT	0.562																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2629-2631)GCC>ACC		A kinase (PRKA) anchor protein 12 isoform 1							77.0	85.0	82.0					6																	151672155		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672155G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2629G>A	6.37:g.151672155G>A	ENSP00000253332:p.Ala877Thr					AKAP12_uc003qoe.2_Missense_Mutation_p.A877T|AKAP12_uc003qof.2_Missense_Mutation_p.A779T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.A772T	p.A877T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2869	+		Ovarian(120;0.125)	877					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2629G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386038	0.61956	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08008	3.14;3.14;3.15;3.15	5.09	2.24	0.28232	.	1.230740	0.05931	N	0.635233	T	0.03348	0.0097	M	0.72118	2.19	0.09310	N	1	B;B;B	0.28850	0.225;0.225;0.144	B;B;B	0.23574	0.047;0.047;0.021	T	0.49579	-0.8925	10	0.16896	T	0.51	.	8.6776	0.34189	0.0773:0.2883:0.6344:0.0	.	772;779;877	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	877;877;779;772	ENSP00000384537:A877T;ENSP00000253332:A877T;ENSP00000346702:A779T;ENSP00000352794:A772T	ENSP00000253332:A877T	A	+	1	0	AKAP12	151713848	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	1.254000	0.32897	0.155000	0.19261	0.561000	0.74099	GCC		PASS	0.562	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			17	99	17	99	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158495649	158495649	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:158495649G>T	ENST00000355585.4	+	16	2246	c.2171G>T	c.(2170-2172)tGt>tTt	p.C724F	SYNJ2_ENST00000367122.2_Missense_Mutation_p.C724F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.C724F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	724					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.C724F(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTATTTTGGTGTGGCGATTTC	0.373																																						uc003qqx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2170-2172)TGT>TTT		synaptojanin 2							126.0	120.0	122.0					6																	158495649		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158495649G>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2171G>T	6.37:g.158495649G>T	ENSP00000347792:p.Cys724Phe					SYNJ2_uc003qqw.1_Missense_Mutation_p.C724F|SYNJ2_uc003qqy.1_Missense_Mutation_p.C437F|SYNJ2_uc003qqz.1_Missense_Mutation_p.C341F|SYNJ2_uc003qra.1_Missense_Mutation_p.C67F	p.C724F	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	16	2246	+			724			Catalytic (By similarity).		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.2171G>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302885	0.81136	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	T;T;T	0.80909	-1.43;-1.43;-1.43	5.9	5.9	0.94986	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000005	T	0.78342	0.4268	N	0.20401	0.57	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.76862	-0.2802	10	0.59425	D	0.04	.	20.331	0.98715	0.0:0.0:1.0:0.0	.	724;724	O15056;O15056-3	SYNJ2_HUMAN;.	F	724	ENSP00000356089:C724F;ENSP00000356088:C724F;ENSP00000347792:C724F	ENSP00000347792:C724F	C	+	2	0	SYNJ2	158415637	1.000000	0.71417	0.677000	0.29947	0.946000	0.59487	9.594000	0.98254	-1.779000	0.01280	-0.450000	0.05554	TGT		PASS	0.373	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			20	104	20	104	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161027644	161027644	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:161027644G>C	ENST00000316300.5	-	17	2694	c.2650C>G	c.(2650-2652)Cct>Gct	p.P884A	LPA_ENST00000447678.1_Missense_Mutation_p.P884A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3392	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.P884A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAACAATAAGGGGCTGCCACA	0.517																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(2650-2652)CCT>GCT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						126.0	131.0	130.0					6																	161027644		2107	4271	6378	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027644G>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2650C>G	6.37:g.161027644G>C	ENSP00000321334:p.Pro884Ala						p.P884A	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2770	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3392			Kringle 30.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2650C>G	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.74	1.434027	0.25813	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.83419	-1.72;-1.72	2.18	2.18	0.27775	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.85617	0.5738	M	0.83603	2.65	0.20703	N	0.999863	P	0.48162	0.906	D	0.67725	0.953	T	0.74290	-0.3713	9	0.49607	T	0.09	.	7.8483	0.29440	0.0:0.0:1.0:0.0	.	3392	P08519	APOA_HUMAN	A	884	ENSP00000321334:P884A;ENSP00000395608:P884A	ENSP00000321334:P884A	P	-	1	0	LPA	160947634	0.994000	0.37717	0.205000	0.23548	0.400000	0.30750	4.259000	0.58828	1.215000	0.43411	0.184000	0.17185	CCT		PASS	0.517	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		43	206	43	206	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169650859	169650859	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr6:169650859C>T	ENST00000366787.3	-	3	270	c.21G>A	c.(19-21)ctG>ctA	p.L7L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	7					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L7L(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACAGAGCCAGCAGGACCAGCC	0.577																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(19-21)CTG>CTA		thrombospondin 2 precursor							53.0	43.0	46.0					6																	169650859		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169650859C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.21G>A	6.37:g.169650859C>T							p.L7L	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	3	269	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	7					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.21G>A	CCDS34574.1																																																																																				PASS	0.577	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		5	29	5	29	---	---	---	---
AP5Z1	9907	broad.mit.edu	37	7	4815354	4815354	+	Nonsense_Mutation	SNP	C	C	A	rs201971666		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:4815354C>A	ENST00000348624.4	+	1	102	c.8C>A	c.(7-9)tCg>tAg	p.S3*	AP5Z1_ENST00000401897.1_Nonsense_Mutation_p.S3*	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	3					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.S714*(1)									GTGATGTTCTCGGCAGGAGCG	0.697																																						uc003sne.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(7-9)TCG>TAG		hypothetical protein LOC9907							33.0	42.0	39.0					7																	4815354		2026	4168	6194	SO:0001587	stop_gained	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4815354C>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.8C>A	7.37:g.4815354C>A	ENSP00000297562:p.Ser3*					KIAA0415_uc010ksp.2_RNA	p.S3*	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	1	91	+		Ovarian(82;0.0175)	3					Q8N3X2|Q96H80	Nonsense_Mutation	SNP	ENST00000348624.4	37	c.8C>A	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878895	0.72294	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	.	.	.	4.32	3.44	0.39384	.	0.992309	0.08179	N	0.985857	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0697	0.36484	0.0:0.8952:0.0:0.1048	.	.	.	.	X	3	.	ENSP00000297562:S3X	S	+	2	0	KIAA0415	4781880	0.758000	0.28405	0.021000	0.16686	0.031000	0.12232	4.178000	0.58284	1.034000	0.39945	0.609000	0.83330	TCG		PASS	0.697	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			8	25	8	25	---	---	---	---
RNF216	54476	broad.mit.edu	37	7	5780740	5780740	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:5780740T>A	ENST00000425013.2	-	4	961	c.737A>T	c.(736-738)cAg>cTg	p.Q246L	RNF216_ENST00000389902.3_Missense_Mutation_p.Q303L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	246					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Q303L(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACTTGCTAACTGCTGGTCTTC	0.537																																						uc003soy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(736-738)CAG>CTG		ring finger protein 216 isoform b							79.0	80.0	80.0					7																	5780740		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5780740T>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.737A>T	7.37:g.5780740T>A	ENSP00000404602:p.Gln246Leu					RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.Q303L	p.Q246L	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	927	-		Ovarian(82;0.07)	246					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.737A>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171214	0.57584	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	T;T	0.48522	0.83;0.81	5.97	4.83	0.62350	.	0.316889	0.31301	N	0.007895	T	0.39118	0.1066	L	0.43152	1.355	0.30179	N	0.800616	P;P	0.39696	0.683;0.622	B;B	0.36092	0.1;0.217	T	0.46582	-0.9181	10	0.62326	D	0.03	-6.7102	11.079	0.48049	0.0:0.0716:0.0:0.9283	.	246;303	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	L	246;303	ENSP00000404602:Q246L;ENSP00000374552:Q303L	ENSP00000374550:Q246L	Q	-	2	0	RNF216	5747266	0.213000	0.23551	0.038000	0.18304	0.831000	0.47069	0.560000	0.23500	1.097000	0.41459	0.459000	0.35465	CAG		PASS	0.537	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		36	78	36	78	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7612493	7612493	+	Silent	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:7612493A>T	ENST00000340080.4	+	4	808	c.387A>T	c.(385-387)ctA>ctT	p.L129L	MIOS_ENST00000405785.1_Silent_p.L129L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	129						lysosomal membrane (GO:0005765)		p.L129L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAACTGGCTAGCTGCTGGTT	0.388																																						uc003srf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)CTA>CTT		missing oocyte, meiosis regulator, homolog							122.0	112.0	115.0					7																	7612493		1877	4113	5990	SO:0001819	synonymous_variant	54468							g.chr7:7612493A>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.387A>T	7.37:g.7612493A>T						MIOS_uc010ktp.1_Silent_p.L129L	p.L129L	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			4	695	+			129			WD 2.		B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.387A>T	CCDS43554.1																																																																																				PASS	0.388	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		32	92	32	92	---	---	---	---
EVX1	2128	broad.mit.edu	37	7	27283072	27283072	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:27283072C>A	ENST00000496902.4	+	1	909	c.423C>A	c.(421-423)agC>agA	p.S141R	RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	141					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S141R(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						ACCAGCACAGCAAAGGTAGCC	0.652																																						uc003szd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(421-423)AGC>AGA		even-skipped homeobox 1							20.0	21.0	21.0					7																	27283072		2188	4273	6461	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27283072C>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.423C>A	7.37:g.27283072C>A	ENSP00000419266:p.Ser141Arg					EVX1_uc011jzn.1_Intron|EVX1_uc010kuy.1_Intron	p.S141R	NM_001989	NP_001980	P49640	EVX1_HUMAN			1	909	+			141					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.423C>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427679	0.25726	.	.	ENSG00000106038	ENST00000496902	D	0.91351	-2.83	5.38	4.45	0.53987	.	0.142200	0.64402	D	0.000008	D	0.84288	0.5439	L	0.31294	0.92	0.80722	D	1	B	0.33022	0.394	B	0.30401	0.115	T	0.81667	-0.0829	10	0.15499	T	0.54	-22.6836	17.6802	0.88240	0.0:0.8668:0.1332:0.0	.	141	P49640	EVX1_HUMAN	R	141	ENSP00000419266:S141R	ENSP00000419266:S141R	S	+	3	2	EVX1	27249597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.007000	0.49536	2.521000	0.84997	0.561000	0.74099	AGC		PASS	0.652	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			5	27	5	27	---	---	---	---
CRHR2	1395	broad.mit.edu	37	7	30695196	30695196	+	Splice_Site	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:30695196C>G	ENST00000471646.1	-	10	1470	c.1053G>C	c.(1051-1053)caG>caC	p.Q351H	CRHR2_ENST00000348438.4_Splice_Site_p.Q378H|CRHR2_ENST00000506074.2_Splice_Site_p.Q351H|CRHR2_ENST00000341843.4_Splice_Site_p.Q337H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	351					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.Q337H(1)|p.Q351H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGCCCCACCTGGAACGACT	0.592																																						uc003tbn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(1051-1053)CAG>CAC		corticotropin releasing hormone receptor 2							68.0	68.0	68.0					7																	30695196		2203	4300	6503	SO:0001630	splice_region_variant	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30695196C>G		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1053+1G>C	7.37:g.30695196C>G						CRHR2_uc010kvw.1_Missense_Mutation_p.Q351H|CRHR2_uc010kvx.1_Missense_Mutation_p.Q350H|CRHR2_uc010kvy.1_Missense_Mutation_p.Q187H|CRHR2_uc003tbo.2_Missense_Mutation_p.Q337H|CRHR2_uc003tbp.2_Missense_Mutation_p.Q378H	p.Q351H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			10	1297	-			351			Helical; Name=7; (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1053G>C	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865892	0.71949	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.11	5.11	0.69529	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	M	0.83852	2.665	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	T	0.80006	-0.1563	9	.	.	.	.	16.4065	0.83671	0.0:1.0:0.0:0.0	.	350;351;378;337;351	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	H	351;378;337;351	ENSP00000418722:Q351H;ENSP00000340943:Q378H;ENSP00000344304:Q337H;ENSP00000426498:Q351H	.	Q	-	3	2	CRHR2	30661721	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.788000	0.85771	2.533000	0.85409	0.561000	0.74099	CAG		PASS	0.592	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3		Missense_Mutation	17	73	17	73	---	---	---	---
DPY19L1	23333	broad.mit.edu	37	7	34971194	34971194	+	Silent	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:34971194T>A	ENST00000310974.4	-	22	2163	c.2019A>T	c.(2017-2019)gtA>gtT	p.V673V		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	673						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.V673V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTCATTCTTTTACAACTTCTA	0.393																																						uc003tem.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2017-2019)GTA>GTT		dpy-19-like 1							77.0	71.0	73.0					7																	34971194		1820	4063	5883	SO:0001819	synonymous_variant	23333					integral to membrane		g.chr7:34971194T>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.2019A>T	7.37:g.34971194T>A						DPY19L1_uc003tel.1_RNA	p.V673V	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN			22	2164	-			673					O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	c.2019A>T	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	8.254	0.809712	0.16537	.	.	ENSG00000173852	ENST00000428054	.	.	.	5.44	-6.93	0.01638	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.6263	0.4767	0.00541	0.2008:0.1965:0.2353:0.3674	.	.	.	.	X	81	.	.	K	-	1	0	DPY19L1	34937719	0.992000	0.36948	0.057000	0.19452	0.970000	0.65996	0.198000	0.17217	-0.685000	0.05177	-0.255000	0.11280	AAA		PASS	0.393	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			13	67	13	67	---	---	---	---
CFAP69	79846	broad.mit.edu	37	7	89915616	89915616	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:89915616G>T	ENST00000389297.4	+	14	1810	c.1559G>T	c.(1558-1560)aGc>aTc	p.S520I	C7orf63_ENST00000316089.8_Missense_Mutation_p.S520I|C7orf63_ENST00000497910.1_Missense_Mutation_p.S502I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		520								p.S520I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AATATAATAAGCAAGCCTAAT	0.308																																						uc010lep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1558-1560)AGC>ATC		hypothetical protein LOC79846 isoform 1							82.0	81.0	81.0					7																	89915616		1800	4063	5863	SO:0001583	missense	79846						binding	g.chr7:89915616G>T																												ENST00000389297.4:c.1559G>T	7.37:g.89915616G>T	ENSP00000373948:p.Ser520Ile					C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.S195I|C7orf63_uc011khj.1_Missense_Mutation_p.S502I|C7orf63_uc011khk.1_Missense_Mutation_p.S82I	p.S520I	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			14	1810	+			520					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1559G>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394725	0.25205	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.38	1.76	0.24704	Armadillo-type fold (1);	0.350425	0.34484	N	0.003930	T	0.30727	0.0774	M	0.62723	1.935	0.09310	N	1	B;B;B	0.32467	0.001;0.372;0.189	B;B;B	0.35607	0.011;0.206;0.16	T	0.25363	-1.0134	10	0.66056	D	0.02	-0.3945	9.3088	0.37891	0.4188:0.0:0.5812:0.0	.	502;520;520	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	I	520;520;502;403;103	ENSP00000373948:S520I;ENSP00000321753:S520I;ENSP00000419549:S502I;ENSP00000392365:S403I;ENSP00000391571:S103I	ENSP00000321753:S520I	S	+	2	0	C7orf63	89753552	0.766000	0.28496	0.460000	0.27093	0.926000	0.56050	0.364000	0.20325	0.522000	0.28464	0.655000	0.94253	AGC		PASS	0.308	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			13	66	13	66	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95614265	95614265	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:95614265G>T	ENST00000324972.6	+	8	963	c.770G>T	c.(769-771)gGc>gTc	p.G257V	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G237V|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G240V|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G220V|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G240V|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G220V	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	257					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.G257V(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GACTACAGCGGCCGAGAGTTA	0.373																																						uc003uoc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(769-771)GGC>GTC		dynein, cytoplasmic 1, intermediate chain 1							103.0	106.0	105.0					7																	95614265		2203	4299	6502	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95614265G>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.770G>T	7.37:g.95614265G>T	ENSP00000320130:p.Gly257Val					DYNC1I1_uc003uod.3_Missense_Mutation_p.G240V|DYNC1I1_uc003uob.2_Missense_Mutation_p.G220V|DYNC1I1_uc003uoe.3_Missense_Mutation_p.G237V|DYNC1I1_uc010lfl.2_Missense_Mutation_p.G246V	p.G257V	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	1047	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		257					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.770G>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643115	0.87859	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.75260	-0.7;-0.71;-0.92;-0.7;-0.69;-0.7	4.95	4.95	0.65309	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	M	0.76433	2.335	0.80722	D	1	D;D;D;P;P	0.60160	0.978;0.987;0.987;0.866;0.725	P;P;P;P;B	0.61592	0.78;0.891;0.891;0.688;0.236	T	0.78964	-0.1996	10	0.14656	T	0.56	-19.9085	18.7623	0.91856	0.0:0.0:1.0:0.0	.	240;237;240;257;220	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	V	240;257;220;237;220;240	ENSP00000392337:G240V;ENSP00000320130:G257V;ENSP00000438377:G220V;ENSP00000398118:G237V;ENSP00000352348:G220V;ENSP00000412444:G240V	ENSP00000320130:G257V	G	+	2	0	DYNC1I1	95452201	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	GGC		PASS	0.373	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		23	112	23	112	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97823030	97823030	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:97823030A>C	ENST00000297293.5	+	11	3546	c.3253A>C	c.(3253-3255)Aca>Cca	p.T1085P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1085					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.T1085P(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCACAGAGGCACAGAAGTGAC	0.592																																						uc003upd.1																			2	Substitution - Missense(2)		lung(2)	lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(3253-3255)ACA>CCA		lemur tyrosine kinase 2 precursor							43.0	39.0	40.0					7																	97823030		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823030A>C	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3253A>C	7.37:g.97823030A>C	ENSP00000297293:p.Thr1085Pro						p.T1085P	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	3546	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1085					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3253A>C	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979224	0.53827	.	.	ENSG00000164715	ENST00000297293	T	0.77489	-1.1	5.13	-5.32	0.02722	.	1.021450	0.07734	N	0.945646	T	0.61565	0.2357	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47407	-0.9120	10	0.35671	T	0.21	.	5.27	0.15620	0.1563:0.1049:0.5693:0.1696	.	1085	Q8IWU2	LMTK2_HUMAN	P	1085	ENSP00000297293:T1085P	ENSP00000297293:T1085P	T	+	1	0	LMTK2	97660966	0.000000	0.05858	0.000000	0.03702	0.626000	0.37791	-0.023000	0.12456	-0.471000	0.06891	0.528000	0.53228	ACA		PASS	0.592	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		8	20	8	20	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100551511	100551511	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:100551511A>T	ENST00000319509.7	+	1	262	c.262A>T	c.(262-264)Aca>Tca	p.T88S				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1753	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.T88S(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CATCCAAAGTACAGAAACCTC	0.463																																						uc003uxk.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							284.0	275.0	278.0					7																	100551511		876	1991	2867	SO:0001583	missense	0							g.chr7:100551511A>T	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.262A>T	7.37:g.100551511A>T	ENSP00000324834:p.Thr88Ser					uc003uxl.1_5'UTR								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.762A>T		.	.	.	.	.	.	.	.	.	.	A	4.780	0.145091	0.09134	.	.	ENSG00000169894	ENST00000319509	T	0.20881	2.04	1.81	-3.23	0.05109	.	.	.	.	.	T	0.06096	0.0158	N	0.08118	0	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.36407	-0.9749	6	0.06099	T	0.92	.	0.633	0.00798	0.4614:0.1988:0.1447:0.1951	.	.	.	.	S	88	ENSP00000324834:T88S	ENSP00000324834:T88S	T	+	1	0	MUC3A	100389447	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.563000	0.02154	-0.747000	0.04759	0.240000	0.17902	ACA		PASS	0.463	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		8	212	8	212	---	---	---	---
PMPCB	9512	broad.mit.edu	37	7	102940667	102940667	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:102940667G>A	ENST00000249269.4	+	4	408	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	PMPCB_ENST00000420236.2_Missense_Mutation_p.E19K|PMPCB_ENST00000428154.1_Missense_Mutation_p.E124K	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	124					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E124K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACTTGAGATTGAAAATATGGG	0.378																																						uc003vbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(370-372)GAA>AAA		mitochondrial processing peptidase beta subunit							134.0	137.0	136.0					7																	102940667		2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102940667G>A	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.370G>A	7.37:g.102940667G>A	ENSP00000249269:p.Glu124Lys					PMPCB_uc010liu.1_Missense_Mutation_p.E124K|PMPCB_uc003vbk.1_Missense_Mutation_p.E124K|PMPCB_uc003vbm.2_Missense_Mutation_p.E33K|PMPCB_uc010liv.2_Missense_Mutation_p.E30K|PMPCB_uc010liw.2_Missense_Mutation_p.E33K|PMPCB_uc011kll.1_Missense_Mutation_p.E19K|PMPCB_uc011klm.1_5'UTR	p.E124K	NM_004279	NP_004270	O75439	MPPB_HUMAN			4	404	+			124					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.370G>A	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.692296	0.96793	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.53423	0.62;0.62;0.62	5.5	5.5	0.81552	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	H	0.97806	4.08	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.88582	0.3137	10	0.87932	D	0	.	19.4789	0.95000	0.0:0.0:1.0:0.0	.	19;19;124;124;115;124;124	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	K	124;124;19	ENSP00000249269:E124K;ENSP00000390035:E124K;ENSP00000410393:E19K	ENSP00000249269:E124K	E	+	1	0	PMPCB	102727903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.594000	0.87642	0.644000	0.83932	GAA		PASS	0.378	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		9	115	9	115	---	---	---	---
ARF5	381	broad.mit.edu	37	7	127231325	127231325	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:127231325G>T	ENST00000000233.5	+	6	669	c.515G>T	c.(514-516)tGg>tTg	p.W172L	GCC1_ENST00000497650.1_Intron|FSCN3_ENST00000420086.2_5'Flank|FSCN3_ENST00000265825.5_5'Flank	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	172					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.W172L(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GGTCTGGACTGGCTGTCCCAC	0.607																																						uc003vmb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)TGG>TTG		ADP-ribosylation factor 5							43.0	39.0	40.0					7																	127231325		2203	4299	6502	SO:0001583	missense	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127231325G>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.515G>T	7.37:g.127231325G>T	ENSP00000000233:p.Trp172Leu					FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank	p.W172L	NM_001662	NP_001653	P84085	ARF5_HUMAN			6	551	+			172					P26437	Missense_Mutation	SNP	ENST00000000233.5	37	c.515G>T	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.121004	0.77436	.	.	ENSG00000004059	ENST00000000233	T	0.67698	-0.28	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	H	0.98646	4.29	0.80722	D	1	P	0.39601	0.68	P	0.47118	0.538	D	0.89686	0.3894	10	0.72032	D	0.01	-14.5813	16.918	0.86156	0.0:0.0:1.0:0.0	.	172	P84085	ARF5_HUMAN	L	172	ENSP00000000233:W172L	ENSP00000000233:W172L	W	+	2	0	ARF5	127018561	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.658000	0.98594	2.590000	0.87494	0.561000	0.74099	TGG		PASS	0.607	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		7	29	7	29	---	---	---	---
ZC3HC1	51530	broad.mit.edu	37	7	129666074	129666074	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:129666074T>A	ENST00000358303.4	-	6	784	c.700A>T	c.(700-702)Act>Tct	p.T234S	RP11-306G20.1_ENST00000587038.1_RNA|RNA5SP245_ENST00000364239.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.T234S|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.T234S|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.T213S	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	234					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.T234S(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TTGATTGTAGTTTTTCTCTCA	0.453																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)ACT>TCT		zinc finger, C3HC type 1							227.0	192.0	203.0					7																	129666074		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129666074T>A	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.700A>T	7.37:g.129666074T>A	ENSP00000351052:p.Thr234Ser					ZC3HC1_uc003vph.2_Missense_Mutation_p.T121S|ZC3HC1_uc010lma.2_Missense_Mutation_p.T121S	p.T234S	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			6	727	-	Melanoma(18;0.0435)		234					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.700A>T	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	T	8.240	0.806610	0.16467	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.44482	1.49;0.92;1.47;0.95	6.17	-2.02	0.07388	.	0.578765	0.17812	N	0.161172	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B;B;B	0.18013	0.0;0.012;0.025	B;B;B	0.12837	0.001;0.005;0.008	T	0.28681	-1.0036	10	0.10902	T	0.67	-0.0619	6.9424	0.24500	0.0:0.3978:0.2388:0.3634	.	234;234;234	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	S	234;234;213;234	ENSP00000351052:T234S;ENSP00000353933:T234S;ENSP00000309301:T213S;ENSP00000418533:T234S	ENSP00000309301:T213S	T	-	1	0	ZC3HC1	129453310	0.524000	0.26282	0.068000	0.19968	0.671000	0.39405	0.292000	0.19011	-0.261000	0.09405	0.533000	0.62120	ACT		PASS	0.453	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		16	85	16	85	---	---	---	---
AKR1D1	6718	broad.mit.edu	37	7	137792252	137792252	+	Missense_Mutation	SNP	C	C	T	rs267606650		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:137792252C>T	ENST00000242375.3	+	7	823	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	AKR1D1_ENST00000432161.1_Missense_Mutation_p.R261C|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.R220C	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	261			R -> C (in CBAS2). {ECO:0000269|PubMed:15030995}.		androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)	p.R261C(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	AATTGTTTTGCGTTTCAACAT	0.373																																						uc003vtz.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1	GRCh37	CM044568	AKR1D1	M		c.(781-783)CGT>TGT		aldo-keto reductase family 1, member D1							146.0	136.0	140.0					7																	137792252		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137792252C>T	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.781C>T	7.37:g.137792252C>T	ENSP00000242375:p.Arg261Cys					AKR1D1_uc011kqe.1_Missense_Mutation_p.R261C|AKR1D1_uc011kqf.1_Missense_Mutation_p.R220C|AKR1D1_uc010lmy.1_RNA	p.R261C	NM_005989	NP_005980	P51857	AK1D1_HUMAN			7	850	+			261		R -> C (in CBAS2).			A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.781C>T	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103412	0.76983	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375	T;T;T	0.29142	1.58;1.58;1.58	5.55	5.55	0.83447	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.984	T	0.77624	-0.2518	10	0.87932	D	0	.	17.0553	0.86532	0.0:1.0:0.0:0.0	.	220;261;261	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	C	261;220;261	ENSP00000389197:R261C;ENSP00000402374:R220C;ENSP00000242375:R261C	ENSP00000242375:R261C	R	+	1	0	AKR1D1	137442792	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.151000	0.58105	2.894000	0.99253	0.591000	0.81541	CGT		PASS	0.373	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		24	99	24	99	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:146829568C>A	ENST00000361727.3	+	8	1831	c.1315C>A	c.(1315-1317)Cag>Aag	p.Q439K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q439K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACATCACACAGACCAAGAT	0.423										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1315-1317)CAG>AAG		cell recognition molecule Caspr2 precursor							125.0	105.0	112.0					7																	146829568		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829568C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1315C>A	7.37:g.146829568C>A	ENSP00000354778:p.Gln439Lys	HNSCC(39;0.1)					p.Q439K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1831	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	439			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1315C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	1.550	-0.539453	0.04053	.	.	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.7	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.320352	0.23230	N	0.050470	T	0.53351	0.1791	N	0.10874	0.06	0.18873	N	0.999988	B	0.12013	0.005	B	0.18263	0.021	T	0.38824	-0.9643	10	0.02654	T	1	.	9.1632	0.37035	0.1499:0.7631:0.0:0.087	.	439	Q9UHC6	CNTP2_HUMAN	K	439	ENSP00000354778:Q439K	ENSP00000354778:Q439K	Q	+	1	0	CNTNAP2	146460501	0.932000	0.31603	0.968000	0.41197	0.977000	0.68977	2.276000	0.43408	2.686000	0.91538	0.591000	0.81541	CAG		PASS	0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			12	57	12	57	---	---	---	---
ZNF467	168544	broad.mit.edu	37	7	149462587	149462587	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:149462587G>T	ENST00000302017.3	-	5	1417	c.1004C>A	c.(1003-1005)tCc>tAc	p.S335Y	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	335					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.S335Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAGAAGCGGACGAGTCGGG	0.662																																						uc003wgd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)TCC>TAC		zinc finger protein 467							14.0	16.0	15.0					7																	149462587		2186	4285	6471	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462587G>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1004C>A	7.37:g.149462587G>T	ENSP00000304769:p.Ser335Tyr					ZNF467_uc003wgc.2_Intron	p.S335Y	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1145	-	Melanoma(164;0.165)|Ovarian(565;0.177)		335						Missense_Mutation	SNP	ENST00000302017.3	37	c.1004C>A	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311298	0.10789	.	.	ENSG00000181444	ENST00000302017	T	0.08458	3.09	3.55	3.55	0.40652	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B	0.27732	0.187	B	0.24974	0.057	T	0.32745	-0.9895	9	0.87932	D	0	.	10.5413	0.45035	0.0:0.0:1.0:0.0	.	335	Q7Z7K2	ZN467_HUMAN	Y	335	ENSP00000304769:S335Y	ENSP00000304769:S335Y	S	-	2	0	ZNF467	149093520	.	.	0.002000	0.10522	0.011000	0.07611	.	.	1.839000	0.53478	0.456000	0.33151	TCC		PASS	0.662	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		6	10	6	10	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149486292	149486292	+	RNA	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:149486292G>T	ENST00000378016.2	+	0	4268							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGATGACTTGCAGCTCCGGC	0.662																																						uc010lpk.2																			0					0						c.(4267-4269)TGC>TTC		SCO-spondin precursor							19.0	23.0	22.0					7																	149486292		2153	4254	6407			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486292G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486292G>T							p.C1423F	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		30	4268	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1423			LDL-receptor class A 2.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.4268G>T																																																																																					PASS	0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				7	34	7	34	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149488961	149488961	+	RNA	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:149488961G>A	ENST00000378016.2	+	0	5302							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCGTGCAGGGGCACCATGAC	0.677																																						uc010lpk.2																			0					0						c.(5302-5304)GGC>AGC		SCO-spondin precursor							17.0	20.0	19.0					7																	149488961		2061	4185	6246			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149488961G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149488961G>A							p.G1768S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		36	5302	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1768			TSP type-1 2.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.5302G>A																																																																																					PASS	0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	14	3	14	---	---	---	---
GALNTL5	168391	broad.mit.edu	37	7	151704947	151704947	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:151704947G>C	ENST00000392800.2	+	7	1198	c.944G>C	c.(943-945)cGt>cCt	p.R315P	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R315P|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	315	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R315P(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTTGCTATACGTCGGCATTAT	0.338																																						uc003wkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(943-945)CGT>CCT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							126.0	127.0	127.0					7																	151704947		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151704947G>C	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.944G>C	7.37:g.151704947G>C	ENSP00000376548:p.Arg315Pro					GALNTL5_uc003wkq.2_Missense_Mutation_p.R66P|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.R204P	p.R315P	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	7	1167	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	315			Catalytic subdomain B.|Lumenal (Potential).		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.944G>C	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621176	0.28889	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.68331	-0.32;-0.32	4.68	2.34	0.29019	.	2.244340	0.02496	N	0.090019	T	0.66489	0.2794	L	0.52126	1.63	0.09310	N	1	P;P	0.44816	0.473;0.844	B;B	0.43575	0.13;0.424	T	0.53365	-0.8449	10	0.87932	D	0	.	7.8709	0.29565	0.8261:0.0:0.1739:0.0	.	66;315	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	P	315	ENSP00000392582:R315P;ENSP00000376548:R315P	ENSP00000376548:R315P	R	+	2	0	GALNTL5	151335880	0.001000	0.12720	0.000000	0.03702	0.686000	0.39977	1.710000	0.37920	0.329000	0.23460	-0.344000	0.07964	CGT		PASS	0.338	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		24	116	24	116	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154172066	154172066	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:154172066A>G	ENST00000377770.3	+	3	542	c.401A>G	c.(400-402)gAa>gGa	p.E134G	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000404039.1_Missense_Mutation_p.E70G|DPP6_ENST00000332007.3_Missense_Mutation_p.E72G|DPP6_ENST00000406326.1_Missense_Mutation_p.E134G|DPP6_ENST00000427557.1_Missense_Mutation_p.E72G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	134					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.E134G(2)|p.E70G(1)|p.E72G(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GTCACTGTAGAAGATCTCTTC	0.408																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			4	Substitution - Missense(4)		lung(4)	pancreas(3)|breast(1)	4						c.(400-402)GAA>GGA		dipeptidyl-peptidase 6 isoform 1							95.0	91.0	92.0					7																	154172066		1906	4120	6026	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154172066A>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.401A>G	7.37:g.154172066A>G	ENSP00000367001:p.Glu134Gly					DPP6_uc003wli.2_Missense_Mutation_p.E70G|DPP6_uc003wlj.2_Missense_Mutation_p.E134G|DPP6_uc010lqh.1_Missense_Mutation_p.E72G|DPP6_uc003wlm.2_Missense_Mutation_p.E72G|DPP6_uc011kvq.1_Missense_Mutation_p.E72G	p.E134G	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		3	530	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	134			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.401A>G		.	.	.	.	.	.	.	.	.	.	A	15.99	2.996585	0.54147	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.16	5.16	0.70880	.	0.108046	0.64402	D	0.000005	T	0.45397	0.1340	.	.	.	0.44485	D	0.997424	B;B;B;B;P;B	0.36010	0.232;0.073;0.065;0.081;0.532;0.081	B;B;B;B;B;B	0.33846	0.104;0.034;0.02;0.012;0.171;0.012	T	0.51725	-0.8669	9	0.87932	D	0	-22.1027	11.6719	0.51406	1.0:0.0:0.0:0.0	.	72;72;72;134;134;70	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	G	70;134;134;72;72	ENSP00000385578:E70G;ENSP00000384393:E134G;ENSP00000367001:E134G;ENSP00000328226:E72G;ENSP00000397303:E72G	ENSP00000328226:E72G	E	+	2	0	DPP6	153802999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.191000	0.58372	2.050000	0.60909	0.528000	0.53228	GAA		PASS	0.408	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		19	76	19	76	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158464239	158464239	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr7:158464239C>A	ENST00000409423.1	-	14	1618	c.1446G>T	c.(1444-1446)atG>atT	p.M482I	NCAPG2_ENST00000275830.10_Missense_Mutation_p.M274I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.M482I|NCAPG2_ENST00000356309.3_Missense_Mutation_p.M482I|NCAPG2_ENST00000409339.3_Missense_Mutation_p.M482I	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	482					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.M482I(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCTTCAACAGCATGTCCACAA	0.438																																						uc003wnv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(1444-1446)ATG>ATT		leucine zipper protein 5							193.0	193.0	193.0					7																	158464239		1960	4136	6096	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158464239C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1446G>T	7.37:g.158464239C>A	ENSP00000386569:p.Met482Ile					NCAPG2_uc010lqu.1_Missense_Mutation_p.M274I|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.M482I|NCAPG2_uc011kwe.1_Missense_Mutation_p.M482I	p.M482I	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	13	1591	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	482			HEAT.		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1446G>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.978862|3.978862	0.74360|0.74360	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000441982|ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	.|T;T;T;T;T	.|0.29917	.|1.55;1.55;1.56;1.55;1.55	5.77|5.77	5.77|5.77	0.91146|0.91146	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.165913	.|0.64402	.|D	.|0.000002	T|T	0.42653|0.42653	0.1212|0.1212	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.44521	.|0.837;0.104;0.749	.|B;B;B	.|0.43331	.|0.416;0.022;0.159	T|T	0.39313|0.39313	-0.9620|-0.9620	5|10	.|0.56958	.|D	.|0.05	-18.2038|-18.2038	19.9983|19.9983	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|482;274;482	.|Q86XI2-2;E7EUH9;Q86XI2	.|.;.;CNDG2_HUMAN	F|I	284|482;482;274;482;482	.|ENSP00000348657:M482I;ENSP00000386569:M482I;ENSP00000275830:M274I;ENSP00000387007:M482I;ENSP00000388326:M482I	.|ENSP00000275830:M274I	C|M	-|-	2|3	0|0	NCAPG2|NCAPG2	158157000|158157000	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.859000|0.859000	0.49053|0.49053	4.818000|4.818000	0.62657|0.62657	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	TGC|ATG		PASS	0.438	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		50	206	50	206	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2040265	2040265	+	Missense_Mutation	SNP	C	C	A	rs149434055		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:2040265C>A	ENST00000262113.4	+	16	2061	c.1920C>A	c.(1918-1920)gaC>gaA	p.D640E	MYOM2_ENST00000523438.1_Missense_Mutation_p.D65E	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	640	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D640E(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATGAGGAGGACCTGCTGGGCT	0.602																																						uc003wpx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1918-1920)GAC>GAA		myomesin 2		C	GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	180.0	147.0	158.0		1920	2.9	1.0	8	dbSNP_134	158	0,8600		0,0,4300	no	missense	MYOM2	NM_003970.2	45	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	640/1466	2040265	1,13005	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040265C>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1920C>A	8.37:g.2040265C>A	ENSP00000262113:p.Asp640Glu					MYOM2_uc011kwi.1_Missense_Mutation_p.D65E	p.D640E	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	16	2058	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	640			Fibronectin type-III 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1920C>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	5.960	0.361143	0.11296	2.27E-4	0.0	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.55234	0.53;0.53	5.72	2.89	0.33648	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.456909	0.26404	N	0.024564	T	0.15825	0.0381	N	0.01188	-0.97	0.25578	N	0.98683	B	0.12630	0.006	B	0.19666	0.026	T	0.31641	-0.9936	10	0.02654	T	1	.	2.3634	0.04313	0.1428:0.5081:0.139:0.2101	.	640	P54296	MYOM2_HUMAN	E	640;65	ENSP00000262113:D640E;ENSP00000428396:D65E	ENSP00000262113:D640E	D	+	3	2	MYOM2	2027672	0.997000	0.39634	0.993000	0.49108	0.834000	0.47266	1.044000	0.30329	0.726000	0.32339	0.555000	0.69702	GAC		PASS	0.602	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		9	123	9	123	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	28998134	28998135	+	Splice_Site	DNP	CC	CC	AA			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:28998134_28998135CC>AA	ENST00000524189.1	-	20	2373	c.2335_2335GG>TT	c.(2335-2337)GGgt>TTggt	p.G779L	RN7SL781P_ENST00000582428.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	779					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.?(4)|p.V779L(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATCGTATTACCTGTAAAGAGA	0.371																																						uc003xhh.3																			6	Unknown(4)|Substitution - Missense(2)		lung(6)		0						c.(2335-2337)GTA>TTA|c.e20-1		kinesin family member 13B																																				SO:0001630	splice_region_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28998134C>A|g.chr8:28998135C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2335_2335delinsAA	8.37:g.28998134_28998135delinsAA						uc003xhi.1_RNA	p.V779L|p.V779_splice	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	20	2394	-		Ovarian(32;0.000536)	779|					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation|Splice_Site	SNP	ENST00000524189.1	37	c.2335G>T|c.2335_splice	CCDS55217.1																																																																																				PASS	0.371	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		Missense_Mutation	16	39	16	39	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37697084	37697084	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:37697084T>C	ENST00000412232.2	+	16	2468	c.2455T>C	c.(2455-2457)Tct>Cct	p.S819P	GPR124_ENST00000315215.7_Missense_Mutation_p.S602P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	819					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S812P(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGCCATGACCTCTGCTGTCTT	0.582																																						uc003xkj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(1)	5						c.(2455-2457)TCT>CCT		G protein-coupled receptor 124 precursor							84.0	71.0	75.0					8																	37697084		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697084T>C	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2455T>C	8.37:g.37697084T>C	ENSP00000406367:p.Ser819Pro					GPR124_uc010lvy.2_Missense_Mutation_p.S602P	p.S819P	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2818	+			819			Helical; Name=2; (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2455T>C	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917864	0.52546	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.59083	0.29;0.41	4.73	4.73	0.59995	GPCR, family 2-like (1);	0.066250	0.64402	D	0.000005	T	0.67353	0.2884	M	0.65498	2.005	0.39444	D	0.967295	D;D	0.71674	0.998;0.984	P;P	0.57679	0.808;0.825	T	0.70908	-0.4744	10	0.48119	T	0.1	-20.5715	11.6423	0.51240	0.0:0.0:0.1479:0.8521	.	602;819	Q96PE1-2;Q96PE1	.;GP124_HUMAN	P	812;602;819	ENSP00000323508:S602P;ENSP00000406367:S819P	ENSP00000323508:S602P	S	+	1	0	GPR124	37816242	0.557000	0.26546	0.994000	0.49952	0.671000	0.39405	1.487000	0.35540	1.987000	0.57996	0.533000	0.62120	TCT		PASS	0.582	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			19	119	19	119	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77690543	77690543	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:77690543C>A	ENST00000521891.2	+	4	3641	c.3193C>A	c.(3193-3195)Cat>Aat	p.H1065N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1039N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1039N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1039N|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1039					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.H1065N(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)			TCTGGTACAACATGTCCGTTC	0.532										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3115-3117)CAT>AAT		zinc finger homeodomain 4							159.0	164.0	162.0					8																	77690543		2054	4197	6251	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690543C>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.3193C>A	8.37:g.77690543C>A	ENSP00000430497:p.His1065Asn	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.H1065N|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1039N	p.H1039N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3502	+			1039			C2H2-type 7.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3115C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028028	0.35797	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.000000	0.45867	U	0.000330	T	0.77465	0.4134	M	0.86953	2.85	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.78314	0.98;0.991;0.991	T	0.80797	-0.1222	10	0.87932	D	0	.	19.3361	0.94319	0.0:1.0:0.0:0.0	.	1039;1039;1065	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1065;1065;1039;1039;1039	ENSP00000430497:H1065N;ENSP00000399605:H1039N;ENSP00000050961:H1039N;ENSP00000430848:H1039N	ENSP00000050961:H1039N	H	+	1	0	ZFHX4	77853098	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.609000	0.82925	2.878000	0.98634	0.650000	0.86243	CAT		PASS	0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		39	178	39	178	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86044135	86044135	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:86044135A>G	ENST00000360375.3	+	12	2056	c.1907A>G	c.(1906-1908)tAt>tGt	p.Y636C	LRRCC1_ENST00000414626.2_Missense_Mutation_p.Y616C	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	636					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y636C(1)|p.Y616C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGCCAGCAGTATATGGATTTA	0.348																																						uc003ycw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1906-1908)TAT>TGT		sodium channel associated protein 2 isoform a							110.0	103.0	105.0					8																	86044135		1839	4074	5913	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86044135A>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1907A>G	8.37:g.86044135A>G	ENSP00000353538:p.Tyr636Cys					LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.Y337C|LRRCC1_uc003ycx.2_Missense_Mutation_p.Y543C|LRRCC1_uc003ycy.2_Missense_Mutation_p.Y616C	p.Y636C	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			12	2061	+			636			Potential.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1907A>G	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.479609	0.63849	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.64803	-0.12;-0.1	5.52	5.52	0.82312	.	0.000000	0.34580	N	0.003852	T	0.78528	0.4297	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78267	-0.2270	10	0.39692	T	0.17	-18.282	15.9567	0.79893	1.0:0.0:0.0:0.0	.	543;616;543;636	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	C	636;616	ENSP00000353538:Y636C;ENSP00000394695:Y616C	ENSP00000353538:Y636C	Y	+	2	0	LRRCC1	86231387	1.000000	0.71417	0.974000	0.42286	0.504000	0.33889	7.609000	0.82925	2.234000	0.73211	0.528000	0.53228	TAT		PASS	0.348	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		14	63	14	63	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128749	89128749	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:89128749A>G	ENST00000286614.6	-	6	1351	c.1070T>C	c.(1069-1071)aTg>aCg	p.M357T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	357					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M357T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GAAAACAAACATCTCACGACG	0.418																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1069-1071)ATG>ACG		matrix metalloproteinase 16 isoform 1							80.0	79.0	79.0					8																	89128749		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128749A>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1070T>C	8.37:g.89128749A>G	ENSP00000286614:p.Met357Thr					MMP16_uc003yec.2_Missense_Mutation_p.M357T	p.M357T	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1352	-			357			Extracellular (Potential).|Hemopexin-like 1.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1070T>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636435	0.67130	.	.	ENSG00000156103	ENST00000286614	T	0.01887	4.58	5.86	5.86	0.93980	Hemopexin/matrixin (2);	0.072037	0.85682	D	0.000000	T	0.08179	0.0204	L	0.42487	1.325	0.80722	D	1	D;D	0.65815	0.969;0.995	P;D	0.74023	0.856;0.982	T	0.51196	-0.8736	10	0.23302	T	0.38	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	357;357	P51512-2;P51512	.;MMP16_HUMAN	T	357	ENSP00000286614:M357T	ENSP00000286614:M357T	M	-	2	0	MMP16	89197865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.367000	0.80283	0.528000	0.53228	ATG		PASS	0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		10	39	10	39	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92378879	92378879	+	Nonsense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:92378879T>A	ENST00000276609.3	+	14	1799	c.1560T>A	c.(1558-1560)taT>taA	p.Y520*	SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.Y520*|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.Y520*	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.Y520*(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAAAATTTTATACTGATTTAA	0.353																																						uc003yex.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1558-1560)TAT>TAA		solute carrier family 26, member 7 isoform a							66.0	72.0	70.0					8																	92378879		2203	4298	6501	SO:0001587	stop_gained	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92378879T>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1560T>A	8.37:g.92378879T>A	ENSP00000276609:p.Tyr520*					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Nonsense_Mutation_p.Y520*|SLC26A7_uc003yfa.2_Nonsense_Mutation_p.Y520*	p.Y520*	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		15	1838	+			520			STAS.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000276609.3	37	c.1560T>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	38	7.187799	0.98121	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.29	2.85	0.33270	.	0.386686	0.24580	N	0.037315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	7.2179	0.25969	0.0:0.2594:0.0:0.7406	.	.	.	.	X	520	.	ENSP00000276609:Y520X	Y	+	3	2	SLC26A7	92448055	0.279000	0.24239	0.008000	0.14137	0.765000	0.43378	0.363000	0.20301	0.320000	0.23234	0.529000	0.55759	TAT		PASS	0.353	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			34	119	34	119	---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101149792	101149792	+	Splice_Site	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:101149792C>A	ENST00000428847.2	-	3	1991		c.e3+1			NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43						meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.?(3)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACATACATTACCTCAGAATCT	0.308																																						uc003yjd.2																			3	Unknown(3)		lung(3)	kidney(1)|skin(1)	2						c.e3+1		F-box protein 43 isoform b							95.0	89.0	91.0					8																	101149792		1811	4068	5879	SO:0001630	splice_region_variant	286151				meiosis		zinc ion binding	g.chr8:101149792C>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1674+1G>T	8.37:g.101149792C>A						FBXO43_uc003yje.2_Splice_Site_p.E524_splice|FBXO43_uc010mbp.1_Missense_Mutation_p.V559L	p.E558_splice	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		3	2387	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)								Splice_Site	SNP	ENST00000428847.2	37	c.1674_splice	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097756	0.56075	.	.	ENSG00000156509	ENST00000428847	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1358	0.98028	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXO43	101218968	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	6.492000	0.73654	2.833000	0.97629	0.585000	0.79938	.		PASS	0.308	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918	Intron	10	61	10	61	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105509436	105509436	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:105509436G>A	ENST00000276654.5	-	5	1452	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	LRP12_ENST00000424843.2_Silent_p.C429C|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	448	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.C448C(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAAAAAAAGCAGTTTTTTT	0.418																																						uc003yma.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1342-1344)TGC>TGT		low density lipoprotein-related protein 12							99.0	94.0	96.0					8																	105509436		2203	4300	6503	SO:0001819	synonymous_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509436G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1344C>T	8.37:g.105509436G>A						LRP12_uc003ymb.2_Silent_p.C429C|LRP12_uc003ylz.2_5'Flank	p.C448C	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1439	-			448			Extracellular (Potential).|LDL-receptor class A 4.		A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	c.1344C>T	CCDS6303.1																																																																																				PASS	0.418	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		25	97	25	97	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110463361	110463361	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:110463361C>T	ENST00000378402.5	+	41	6437	c.6333C>T	c.(6331-6333)gtC>gtT	p.V2111V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2111	IPT/TIG 14.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V2113V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACTGACAGTCGTGGGATCAG	0.517										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(6331-6333)GTC>GTT		fibrocystin L precursor							67.0	73.0	71.0					8																	110463361		2128	4243	6371	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110463361C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6333C>T	8.37:g.110463361C>T		HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427		p.V2111V	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		41	6437	+			2111			IPT/TIG 14.|Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.6333C>T	CCDS47911.1																																																																																				PASS	0.517	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	22	9	22	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113649184	113649184	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:113649184G>T	ENST00000297405.5	-	22	3821	c.3577C>A	c.(3577-3579)Cga>Aga	p.R1193R	CSMD3_ENST00000352409.3_Silent_p.R1193R|CSMD3_ENST00000343508.3_Silent_p.R1153R|CSMD3_ENST00000455883.2_Silent_p.R1089R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1193	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1193R(1)|p.R1153R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACCCGATTCGACTACCATAT	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3577-3579)CGA>AGA		CUB and Sushi multiple domains 3 isoform 1							199.0	172.0	181.0					8																	113649184		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113649184G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3577C>A	8.37:g.113649184G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.R465R|CSMD3_uc003ynt.2_Silent_p.R1153R|CSMD3_uc011lhx.1_Silent_p.R1089R	p.R1193R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			22	3736	-			1193			Sushi 6.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3577C>A	CCDS6315.1																																																																																				PASS	0.453	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	80	20	80	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125072499	125072499	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:125072499A>G	ENST00000522917.1	+	23	3159	c.2953A>G	c.(2953-2955)Att>Gtt	p.I985V	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.I985V|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	985						integral component of membrane (GO:0016021)		p.I985V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCTGCCAACATTCGGCCGGT	0.582																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2953-2955)ATT>GTT		fer-1-like 6							94.0	104.0	101.0					8																	125072499		2202	4300	6502	SO:0001583	missense	654463					integral to membrane		g.chr8:125072499A>G	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2953A>G	8.37:g.125072499A>G	ENSP00000428280:p.Ile985Val					uc003yqy.1_RNA	p.I985V	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3159	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		985			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.2953A>G	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162162	0.78226	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82167	-1.58;-1.58	5.65	5.65	0.86999	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.88833	0.6544	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	D	0.87598	0.2495	10	0.34782	T	0.22	-12.1887	15.534	0.75986	1.0:0.0:0.0:0.0	.	985	Q2WGJ9	FR1L6_HUMAN	V	985	ENSP00000428280:I985V;ENSP00000381982:I985V	ENSP00000381982:I985V	I	+	1	0	FER1L6	125141680	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	8.733000	0.91539	2.163000	0.67991	0.533000	0.62120	ATT		PASS	0.582	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		51	96	51	96	---	---	---	---
FAM84B	157638	broad.mit.edu	37	8	127569404	127569404	+	Silent	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:127569404C>G	ENST00000304916.3	-	2	686	c.231G>C	c.(229-231)cgG>cgC	p.R77R	RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000519880.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	77						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R77R(1)		lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CCTCGTGCAGCCGCGGATCGT	0.716																																						uc003yrz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)CGG>CGC		family with sequence similarity 84, member B							11.0	11.0	11.0					8																	127569404		2144	4164	6308	SO:0001819	synonymous_variant	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127569404C>G	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.231G>C	8.37:g.127569404C>G							p.R77R	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	515	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		77						Silent	SNP	ENST00000304916.3	37	c.231G>C	CCDS6358.1																																																																																				PASS	0.716	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		3	22	3	22	---	---	---	---
ST3GAL1	6482	broad.mit.edu	37	8	134478271	134478271	+	Silent	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:134478271C>A	ENST00000319914.5	-	5	1396	c.369G>T	c.(367-369)gtG>gtT	p.V123V	ST3GAL1_ENST00000399640.2_Silent_p.V123V|ST3GAL1_ENST00000521180.1_Silent_p.V123V|ST3GAL1_ENST00000522652.1_Silent_p.V123V			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	123					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.V123V(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TCCCAGGCACCACTCTGAACA	0.587																																						uc003yuk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)GTG>GTT		ST3 beta-galactoside alpha-2,3-sialyltransferase							91.0	88.0	89.0					8																	134478271		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134478271C>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.369G>T	8.37:g.134478271C>A						ST3GAL1_uc003yum.2_Silent_p.V123V	p.V123V	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		6	1198	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		123			Lumenal (Potential).		O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.369G>T	CCDS6373.1																																																																																				PASS	0.587	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		31	94	31	94	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142476592	142476592	+	RNA	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:142476592G>A	ENST00000430863.1	-	0	2474					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.T798T(1)									TGGCGTGCAGGGTCTTTTCCT	0.642																																						uc003ywi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2392-2394)ACC>ACT		hypothetical protein LOC389690							74.0	87.0	83.0					8																	142476592		2143	4233	6376			389690						binding	g.chr8:142476592G>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142476592G>A						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.T798T	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		19	2475	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		798						Silent	SNP	ENST00000430863.1	37	c.2394C>T																																																																																					PASS	0.642	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		13	37	13	37	---	---	---	---
GML	2765	broad.mit.edu	37	8	143927970	143927970	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr8:143927970G>T	ENST00000220940.1	+	4	431	c.341G>T	c.(340-342)gGa>gTa	p.G114V		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	114	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)		p.G114V(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AATGCAGGAGGACCTACTAAT	0.453																																						uc003yxg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(340-342)GGA>GTA		glycosylphosphatidylinositol anchored molecule							108.0	107.0	107.0					8																	143927970		2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143927970G>T	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.341G>T	8.37:g.143927970G>T	ENSP00000220940:p.Gly114Val						p.G114V	NM_002066	NP_002057	Q99445	GML_HUMAN			4	431	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		114			UPAR/Ly6.		A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.341G>T	CCDS6391.1	.	.	.	.	.	.	.	.	.	.	N	13.64	2.298399	0.40694	.	.	ENSG00000104499	ENST00000220940	T	0.56444	0.46	3.52	2.64	0.31445	Ly-6 antigen / uPA receptor -like (1);	0.000000	0.41396	D	0.000883	T	0.63954	0.2555	M	0.61703	1.905	0.50171	D	0.999853	D	0.89917	1.0	D	0.81914	0.995	T	0.64166	-0.6471	10	0.72032	D	0.01	-15.3189	6.9429	0.24502	0.1272:0.0:0.8728:0.0	.	114	Q99445	GML_HUMAN	V	114	ENSP00000220940:G114V	ENSP00000220940:G114V	G	+	2	0	GML	143924972	0.643000	0.27269	0.552000	0.28243	0.183000	0.23260	0.595000	0.24029	1.048000	0.40298	0.557000	0.71058	GGA		PASS	0.453	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		26	97	26	97	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2029188	2029188	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:2029188C>T	ENST00000382203.1	+	2	375	c.166C>T	c.(166-168)Cct>Tct	p.P56S	SMARCA2_ENST00000349721.2_Missense_Mutation_p.P56S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P56S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P56S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	56					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.P56S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGTCTCCCATCCTATGCCGAC	0.537																																						uc003zhc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(166-168)CCT>TCT		SWI/SNF-related matrix-associated							42.0	37.0	39.0					9																	2029188		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2029188C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.166C>T	9.37:g.2029188C>T	ENSP00000371638:p.Pro56Ser					SMARCA2_uc003zhd.2_Missense_Mutation_p.P56S|SMARCA2_uc010mha.2_Missense_Mutation_p.P47S	p.P56S	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	2	265	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	56					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.166C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425210	0.43020	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000457226;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.87491	-2.26;-2.23;0.82;-2.26;-2.23	5.62	2.59	0.31030	.	0.435749	0.23055	N	0.052457	T	0.74794	0.3763	N	0.17082	0.46	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.66779	-0.5837	10	0.51188	T	0.08	-7.6486	7.4424	0.27192	0.1253:0.6865:0.121:0.0672	.	56;56	P51531-2;P51531	.;SMCA2_HUMAN	S	56	ENSP00000265773:P56S;ENSP00000349788:P56S;ENSP00000392081:P56S;ENSP00000371638:P56S;ENSP00000371629:P56S	ENSP00000265773:P56S	P	+	1	0	SMARCA2	2019188	0.010000	0.17322	0.931000	0.37212	0.855000	0.48748	0.555000	0.23422	0.643000	0.30638	0.563000	0.77884	CCT		PASS	0.537	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	28	4	28	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8319963	8319963	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:8319963C>T	ENST00000381196.4	-	42	6081	c.5538G>A	c.(5536-5538)gcG>gcA	p.A1846A	PTPRD_ENST00000360074.4_Silent_p.A1833A|PTPRD_ENST00000358503.5_Silent_p.A1824A|PTPRD_ENST00000355233.5_Silent_p.A1440A|PTPRD_ENST00000486161.1_Silent_p.A1439A|PTPRD_ENST00000540109.1_Silent_p.A1846A|PTPRD_ENST00000397617.3_Silent_p.A1439A|PTPRD_ENST00000356435.5_Silent_p.A1846A|PTPRD_ENST00000397606.3_Silent_p.A1439A|PTPRD_ENST00000397611.3_Silent_p.A1436A|PTPRD_ENST00000537002.1_Silent_p.A1436A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1846	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1846A(2)|p.A1440A(1)|p.A1317A(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCAACGCCCGCGCTGCCAC	0.443										TSP Lung(15;0.13)																												uc003zkk.2																			4	Substitution - coding silent(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(5536-5538)GCG>GCA		protein tyrosine phosphatase, receptor type, D							79.0	76.0	77.0					9																	8319963		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8319963C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5538G>A	9.37:g.8319963C>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.A1440A|PTPRD_uc003zkq.2_Silent_p.A1439A|PTPRD_uc003zkr.2_Silent_p.A1430A|PTPRD_uc003zks.2_Silent_p.A1439A|PTPRD_uc003zkl.2_Silent_p.A1837A|PTPRD_uc003zkm.2_Silent_p.A1833A|PTPRD_uc003zkn.2_Silent_p.A1435A|PTPRD_uc003zko.2_Silent_p.A1436A	p.A1846A	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	44	6249	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1846			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5538G>A	CCDS43786.1																																																																																				PASS	0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			14	36	14	36	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18906818	18906818	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:18906818C>T	ENST00000380548.4	+	28	5429	c.5090C>T	c.(5089-5091)gCc>gTc	p.A1697V	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A398V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1697	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1697V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTGTGCATGCCCGCACCAAC	0.617																																						uc003zne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(5089-5091)GCC>GTC		ADAMTS-like 1 isoform 4 precursor							64.0	78.0	73.0					9																	18906818		2129	4216	6345	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18906818C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.5090C>T	9.37:g.18906818C>T	ENSP00000369921:p.Ala1697Val					ADAMTSL1_uc003znf.3_Missense_Mutation_p.A398V|ADAMTSL1_uc003zng.1_Missense_Mutation_p.A88V	p.A1697V	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	28	5217	+			1697			TSP type-1 9.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.5090C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733845	0.30684	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.60548	0.18;0.18	5.29	1.23	0.21249	.	0.841724	0.10484	N	0.669193	T	0.36826	0.0981	N	0.25094	0.71	0.18873	N	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.19418	-1.0306	10	0.27082	T	0.32	.	3.7158	0.08437	0.1911:0.226:0.0:0.5828	.	1198;398;1697	A2A344;Q8N6G6-6;Q8N6G6	.;.;ATL1_HUMAN	V	1697;398;401	ENSP00000369921:A1697V;ENSP00000369918:A398V	ENSP00000325584:A401V	A	+	2	0	ADAMTSL1	18896818	0.002000	0.14202	0.991000	0.47740	0.997000	0.91878	0.309000	0.19332	0.341000	0.23771	0.462000	0.41574	GCC		PASS	0.617	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			18	61	18	61	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74838034	74838034	+	Splice_Site	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:74838034A>T	ENST00000358399.3	+	7	699		c.e7-1		GDA_ENST00000376989.3_Intron|GDA_ENST00000477618.1_Splice_Site|GDA_ENST00000238018.4_Splice_Site|GDA_ENST00000376986.1_Intron|GDA_ENST00000545168.1_Splice_Site	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase						guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.?(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AATTATCTCCAGTATTCTAGA	0.358																																						uc004aiq.2																			2	Unknown(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.e7-2		guanine deaminase							141.0	135.0	137.0					9																	74838034		2203	4300	6503	SO:0001630	splice_region_variant	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74838034A>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.607-1A>T	9.37:g.74838034A>T						GDA_uc011lse.1_Splice_Site_p.Y129_splice|GDA_uc011lsf.1_Splice_Site_p.Y129_splice|GDA_uc004air.2_Splice_Site_p.Y203_splice|GDA_uc010mow.1_Splice_Site|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Splice_Site_p.Y129_splice	p.Y203_splice	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	7	790	+		Myeloproliferative disorder(762;0.0122)						B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Splice_Site	SNP	ENST00000358399.3	37	c.607_splice	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241412	0.58995	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000358399;ENST00000414671	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2713	0.60161	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GDA	74027854	1.000000	0.71417	0.993000	0.49108	0.704000	0.40688	6.330000	0.72925	2.121000	0.65114	0.533000	0.62120	.		PASS	0.358	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		Intron	39	101	39	101	---	---	---	---
CTSL	1514	broad.mit.edu	37	9	90344506	90344506	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:90344506A>T	ENST00000343150.5	+	6	1530	c.640A>T	c.(640-642)Aat>Tat	p.N214Y	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.N214Y			P07711	CATL1_HUMAN	cathepsin L	214					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.N214Y(1)									CTGTAAGTACAATCCCAAGTA	0.458																																						uc004aph.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(640-642)AAT>TAT		cathepsin L1 preproprotein	Glucagon recombinant(DB00040)						133.0	129.0	130.0					9																	90344506		2203	4300	6503	SO:0001583	missense	1514				macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding	g.chr9:90344506A>T	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.640A>T	9.37:g.90344506A>T	ENSP00000345344:p.Asn214Tyr					CTSL1_uc004api.2_Missense_Mutation_p.N214Y|CTSL1_uc004apj.2_Missense_Mutation_p.N159Y|CTSL1_uc010mqh.2_Missense_Mutation_p.N32Y|CTSL1_uc004apk.2_Missense_Mutation_p.N214Y|CTSL1_uc004apl.2_Missense_Mutation_p.N214Y	p.N214Y	NM_001912	NP_001903	P07711	CATL1_HUMAN			6	990	+			214					Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.640A>T	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070677	0.76301	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	D;D	0.87729	-2.29;-2.29	4.37	-1.22	0.09494	Peptidase C1A, papain C-terminal (2);	0.543154	0.21014	N	0.081633	D	0.89719	0.6796	M	0.86953	2.85	0.36350	D	0.860009	P	0.42248	0.774	P	0.52031	0.688	D	0.87963	0.2731	10	0.87932	D	0	.	5.671	0.17723	0.4982:0.2687:0.2331:0.0	.	214	P07711	CATL1_HUMAN	Y	214	ENSP00000345344:N214Y;ENSP00000365061:N214Y	ENSP00000365061:N214Y	N	+	1	0	CTSL1	89534326	0.849000	0.29639	0.002000	0.10522	0.886000	0.51366	1.454000	0.35178	-0.066000	0.12998	0.533000	0.62120	AAT		PASS	0.458	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		33	67	33	67	---	---	---	---
HEMGN	55363	broad.mit.edu	37	9	100692661	100692661	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:100692661G>T	ENST00000259456.3	-	4	1159	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	339					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.S339Y(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGTTTTATGAGAGGGGGCTTT	0.363																																						uc004axy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)TCT>TAT		hemogen							203.0	207.0	206.0					9																	100692661		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692661G>T	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.1016C>A	9.37:g.100692661G>T	ENSP00000259456:p.Ser339Tyr					HEMGN_uc004axz.2_Missense_Mutation_p.S339Y	p.S339Y	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	1124	-		Acute lymphoblastic leukemia(62;0.0559)	339					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.1016C>A	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239802	0.10023	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.25	1.21	0.21127	.	0.384712	0.26334	N	0.024977	T	0.24044	0.0582	L	0.46157	1.445	0.09310	N	1	B	0.24882	0.113	B	0.25405	0.06	T	0.24190	-1.0167	9	0.02654	T	1	-3.3589	2.0847	0.03643	0.1732:0.1562:0.5093:0.1613	.	339	Q9BXL5	HEMGN_HUMAN	Y	339	.	ENSP00000259456:S339Y	S	-	2	0	HEMGN	99732482	0.002000	0.14202	0.000000	0.03702	0.623000	0.37688	0.168000	0.16622	0.288000	0.22398	0.655000	0.94253	TCT		PASS	0.363	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		60	162	60	162	---	---	---	---
GABBR2	9568	broad.mit.edu	37	9	101125063	101125063	+	Silent	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:101125063C>G	ENST00000259455.2	-	13	2286	c.1827G>C	c.(1825-1827)ctG>ctC	p.L609L		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	609					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.L609L(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCAGGATACACAGGTCGATCA	0.592																																						uc004ays.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1825-1827)CTG>CTC		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						93.0	73.0	79.0					9																	101125063		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101125063C>G	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1827G>C	9.37:g.101125063C>G							p.L609L	NM_005458	NP_005449	O75899	GABR2_HUMAN			13	1983	-		Acute lymphoblastic leukemia(62;0.0527)	609			Helical; Name=4; (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.1827G>C	CCDS6736.1																																																																																				PASS	0.592	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			10	32	10	32	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120470891	120470891	+	Silent	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:120470891C>A	ENST00000355622.6	+	2	245	c.144C>A	c.(142-144)atC>atA	p.I48I	TLR4_ENST00000472304.1_Intron|RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000394487.4_Silent_p.I8I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	48					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.I48I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TCTACAAAATCCCCGACAACC	0.443																																						uc004bjz.2																			1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(142-144)ATC>ATA		toll-like receptor 4 precursor							160.0	159.0	159.0					9																	120470891		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470891C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.144C>A	9.37:g.120470891C>A						TLR4_uc004bka.2_Silent_p.I8I|TLR4_uc004bkb.2_Intron	p.I48I	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	435	+			48			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.144C>A	CCDS6818.1																																																																																				PASS	0.443	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		33	101	33	101	---	---	---	---
LCN6	158062	broad.mit.edu	37	9	139642928	139642928	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:139642928C>T	ENST00000341206.4	-	1	52	c.8G>A	c.(7-9)gGc>gAc	p.G3D	LCN6_ENST00000480584.1_5'Flank|LCN6_ENST00000435202.1_5'Flank|LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000476567.1_5'Flank	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	3					single fertilization (GO:0007338)	extracellular region (GO:0005576)		p.G3D(1)		lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CAGCAGCAGGCCGCCCATCCT	0.637																																					Melanoma(172;919 2704 37090 48131)	uc004ciy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)GGC>GAC		lipocalin 6 precursor							68.0	61.0	63.0					9																	139642928		2201	4299	6500	SO:0001583	missense	158062				single fertilization	extracellular region	binding	g.chr9:139642928C>T	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"""Lipocalins"""	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.8G>A	9.37:g.139642928C>T	ENSP00000339621:p.Gly3Asp					LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA	p.G3D	NM_198946	NP_945184	P62502	LCN6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	1	53	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	3					B0QZ80|Q71SF6	Missense_Mutation	SNP	ENST00000341206.4	37	c.8G>A	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	C	9.244	1.039050	0.19669	.	.	ENSG00000204003	ENST00000341206	T	0.30182	1.54	2.46	-3.23	0.05109	.	.	.	.	.	T	0.14399	0.0348	L	0.27053	0.805	0.09310	N	1	B	0.27498	0.18	B	0.19946	0.027	T	0.22871	-1.0204	8	.	.	.	-1.7233	2.3801	0.04352	0.2133:0.2071:0.4463:0.1333	.	3	P62502	LCN6_HUMAN	D	3	ENSP00000339621:G3D	.	G	-	2	0	LCN6	138762749	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.067000	0.01383	-0.738000	0.04817	0.556000	0.70494	GGC		PASS	0.637	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946		9	15	9	15	---	---	---	---
CCDC183	84960	broad.mit.edu	37	9	139693672	139693672	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr9:139693672G>C	ENST00000338005.6	+	2	224	c.189G>C	c.(187-189)aaG>aaC	p.K63N	RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.K119N|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		63								p.K63K(1)|p.K63N(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTTTGGCCAAGAAGGTACACA	0.652																																						uc004cjf.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(187-189)AAG>AAC		hypothetical protein LOC84960							33.0	41.0	38.0					9																	139693672		1997	4155	6152	SO:0001583	missense	84960							g.chr9:139693672G>C																												ENST00000338005.6:c.189G>C	9.37:g.139693672G>C	ENSP00000338013:p.Lys63Asn						p.K63N	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	2	237	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	63					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	c.189G>C	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379522	0.42207	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.12879	2.64	4.12	2.2	0.27929	.	2420.000000	0.00447	U	0.000096	T	0.10035	0.0246	N	0.19112	0.55	0.26816	N	0.968897	B	0.16802	0.019	B	0.14023	0.01	T	0.27331	-1.0077	10	0.16420	T	0.52	-1.6859	6.8724	0.24129	0.1045:0.1829:0.7125:0.0	.	63	Q5T5S1	K1984_HUMAN	N	63	ENSP00000338013:K63N	ENSP00000338013:K63N	K	+	3	2	KIAA1984	138813493	0.783000	0.28701	1.000000	0.80357	0.870000	0.49936	0.585000	0.23879	1.021000	0.39600	0.561000	0.74099	AAG		PASS	0.652	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			21	30	21	30	---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1041879	1041879	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:1041879C>T	ENST00000360803.4	+	3	312	c.230C>T	c.(229-231)cCg>cTg	p.P77L	GTPBP4_ENST00000545048.1_Missense_Mutation_p.P30L|GTPBP4_ENST00000538293.1_Intron|GTPBP4_ENST00000491635.1_Intron	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	77					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.P77L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GATATTCATCCGTTCTATGCT	0.413																																						uc001ift.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(229-231)CCG>CTG		G protein-binding protein CRFG							107.0	78.0	88.0					10																	1041879		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1041879C>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.230C>T	10.37:g.1041879C>T	ENSP00000354040:p.Pro77Leu					GTPBP4_uc010qac.1_Intron|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Intron|GTPBP4_uc010qae.1_Missense_Mutation_p.P30L	p.P77L	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	3	301	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	77					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.230C>T	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671609	0.67928	.	.	ENSG00000107937	ENST00000360803;ENST00000360059;ENST00000545048	T;T;T	0.13420	2.59;2.59;2.59	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67968	-0.5533	10	0.87932	D	0	-13.9871	19.5069	0.95121	0.0:1.0:0.0:0.0	.	77	Q9BZE4	NOG1_HUMAN	L	77;30;30	ENSP00000354040:P77L;ENSP00000353168:P30L;ENSP00000445473:P30L	ENSP00000353168:P30L	P	+	2	0	GTPBP4	1031879	1.000000	0.71417	0.992000	0.48379	0.004000	0.04260	7.627000	0.83176	2.619000	0.88677	0.555000	0.69702	CCG		PASS	0.413	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		12	35	12	35	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37430821	37430821	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:37430821G>A	ENST00000602533.1	+	7	927	c.828G>A	c.(826-828)gtG>gtA	p.V276V	ANKRD30A_ENST00000361713.1_Silent_p.V276V|ANKRD30A_ENST00000374660.1_Silent_p.V276V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	332					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V276V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCCTTGGTGGAGGGAACAT	0.468																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(826-828)GTG>GTA		ankyrin repeat domain 30A							68.0	68.0	68.0					10																	37430821		1875	4126	6001	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430821G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.828G>A	10.37:g.37430821G>A							p.V276V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	927	+			332					Q5W025	Silent	SNP	ENST00000602533.1	37	c.828G>A																																																																																					PASS	0.468	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		23	52	23	52	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1057-1059)GCA>CCA		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro						p.A353P	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		PASS	0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	137	3	137	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50870818	50870818	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:50870818C>A	ENST00000337653.2	+	14	2120	c.1967C>A	c.(1966-1968)tCc>tAc	p.S656Y	CHAT_ENST00000395559.2_Missense_Mutation_p.S538Y|CHAT_ENST00000339797.1_Missense_Mutation_p.S538Y|CHAT_ENST00000351556.3_Missense_Mutation_p.S538Y|CHAT_ENST00000395562.2_Missense_Mutation_p.S574Y|CHAT_ENST00000455728.2_Missense_Mutation_p.S538Y	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	656					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.S656Y(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TTTGTCCTCTCCACTAGCCAG	0.567																																						uc001jhz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1966-1968)TCC>TAC		choline acetyltransferase isoform 2	Choline(DB00122)						169.0	159.0	162.0					10																	50870818		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50870818C>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1967C>A	10.37:g.50870818C>A	ENSP00000337103:p.Ser656Tyr					CHAT_uc001jhv.1_Missense_Mutation_p.S538Y|CHAT_uc001jhx.1_Missense_Mutation_p.S538Y|CHAT_uc001jhy.1_Missense_Mutation_p.S538Y|CHAT_uc001jia.2_Missense_Mutation_p.S538Y|CHAT_uc010qgs.1_Missense_Mutation_p.S538Y	p.S656Y	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	14	2120	+		all_neural(218;0.107)	656					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1967C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931227	0.92389	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98237	1.0486	10	0.72032	D	0.01	-30.3381	19.5169	0.95169	0.0:1.0:0.0:0.0	.	538;656	F8W8I2;P28329	.;CLAT_HUMAN	Y	538;538;538;656;574;538	ENSP00000343486:S538Y;ENSP00000345878:S538Y;ENSP00000378926:S538Y;ENSP00000337103:S656Y;ENSP00000378929:S574Y;ENSP00000390521:S538Y	ENSP00000337103:S656Y	S	+	2	0	CHAT	50540824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.631000	0.89168	0.655000	0.94253	TCC		PASS	0.567	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		41	79	41	79	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87373316	87373316	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:87373316C>A	ENST00000327946.7	-	15	2534	c.2449G>T	c.(2449-2451)Gcc>Tcc	p.A817S	GRID1_ENST00000536331.1_Missense_Mutation_p.A388S|GRID1_ENST00000552278.2_5'Flank	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	817					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A817S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGGGCGCTGGCATGGCTGGTG	0.642										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2449-2451)GCC>TCC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						68.0	74.0	72.0					10																	87373316		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373316C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2449G>T	10.37:g.87373316C>A	ENSP00000330148:p.Ala817Ser	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.A388S	p.A817S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			15	2550	-			817			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2449G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	4.807	0.150118	0.09185	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.52983	0.64;0.64	5.59	-4.55	0.03441	Ionotropic glutamate receptor (1);	1.092510	0.06781	N	0.785389	T	0.20129	0.0484	N	0.04724	-0.175	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.22138	-1.0225	10	0.13108	T	0.6	.	6.091	0.19995	0.1925:0.2618:0.0:0.5457	.	817	Q9ULK0	GRID1_HUMAN	S	817;388	ENSP00000330148:A817S;ENSP00000444455:A388S	ENSP00000330148:A817S	A	-	1	0	GRID1	87363296	0.000000	0.05858	0.050000	0.19076	0.783000	0.44284	-1.267000	0.02839	-0.703000	0.05049	-0.145000	0.13849	GCC		PASS	0.642	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		29	72	29	72	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717716	89717716	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:89717716A>C	ENST00000371953.3	+	7	2098	c.741A>C	c.(739-741)ttA>ttC	p.L247F	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	247	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTCAGCCGTTACCTGTGTGTG	0.403		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		64	Whole gene deletion(37)|Insertion - Frameshift(13)|Deletion - Frameshift(11)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	p.P248fs*5(11)|p.R55fs*1(4)|p.L247*(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.L247fs*4(1)|p.?(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.P246_L247insGP(1)	central_nervous_system(16)|prostate(16)|skin(7)|endometrium(5)|lung(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CI043805	PTEN	I		c.(739-741)TTA>TTC		phosphatase and tensin homolog							133.0	115.0	121.0					10																	89717716		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717716A>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.741A>C	10.37:g.89717716A>C	ENSP00000361021:p.Leu247Phe	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L247F	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1772	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	247			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.741A>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880229	0.72294	.	.	ENSG00000171862	ENST00000371953	D	0.86562	-2.14	5.15	3.04	0.35103	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90682	0.4606	9	.	.	.	-5.7279	10.3225	0.43775	0.1767:0.0:0.8233:0.0	.	247	P60484	PTEN_HUMAN	F	247	ENSP00000361021:L247F	.	L	+	3	2	PTEN	89707696	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	2.568000	0.45965	0.388000	0.25054	-0.334000	0.08254	TTA		PASS	0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		5	49	5	49	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717718	89717718	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:89717718C>A	ENST00000371953.3	+	7	2100	c.743C>A	c.(742-744)cCt>cAt	p.P248H	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.P248?(4)|p.P248fs*5(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.L247fs*4(1)|p.P248fs*4(1)|p.P248H(1)|p.V249fs*4(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGCCGTTACCTGTGTGTGGT	0.408		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		58	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(5)|Insertion - Frameshift(3)|Deletion - In frame(1)|Unknown(1)	p.P248fs*5(13)|p.P248?(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.L247fs*4(1)|p.G165_K342del(1)|p.P248fs*4(1)|p.V249fs*4(1)	central_nervous_system(16)|prostate(16)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(742-744)CCT>CAT		phosphatase and tensin homolog							133.0	116.0	122.0					10																	89717718		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717718C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.743C>A	10.37:g.89717718C>A	ENSP00000361021:p.Pro248His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.P248H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1774	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	248			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.743C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883593	0.91740	.	.	ENSG00000171862	ENST00000371953	D	0.86297	-2.1	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93365	0.6730	9	.	.	.	-5.6446	18.6161	0.91303	0.0:1.0:0.0:0.0	.	248	P60484	PTEN_HUMAN	H	248	ENSP00000361021:P248H	.	P	+	2	0	PTEN	89707698	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.452000	0.80683	2.380000	0.81148	0.585000	0.79938	CCT		PASS	0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		6	51	6	51	---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101089820	101089820	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:101089820G>T	ENST00000356713.4	+	1	965	c.676G>T	c.(676-678)Gcg>Tcg	p.A226S	CNNM1_ENST00000370528.3_Missense_Mutation_p.A155S|CNNM1_ENST00000446890.1_Missense_Mutation_p.A155S|CNNM1_ENST00000370534.4_5'UTR	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	226	DUF21.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.A226S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GTGGCTGCGGGCGCTCGGGGC	0.746																																						uc001kpp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)GCG>TCG		cyclin M1							3.0	3.0	3.0					10																	101089820		1390	3166	4556	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101089820G>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.676G>T	10.37:g.101089820G>T	ENSP00000349147:p.Ala226Ser					CNNM1_uc009xwe.2_Missense_Mutation_p.A226S|CNNM1_uc010qpi.1_Missense_Mutation_p.A226S|CNNM1_uc009xwf.2_Missense_Mutation_p.A226S	p.A226S	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	965	+		Colorectal(252;0.234)	226			DUF21.|Helical; (Potential).		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.676G>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	13.15	2.149928	0.37923	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	D;D;D	0.88201	-2.35;-2.35;-2.35	3.86	2.95	0.34219	Domain of unknown function DUF21 (1);	.	.	.	.	D	0.82802	0.5116	L	0.48642	1.525	0.80722	D	1	B;B	0.23442	0.069;0.085	B;B	0.22880	0.025;0.042	T	0.76520	-0.2929	9	0.41790	T	0.15	-17.4564	6.3985	0.21626	0.1034:0.1856:0.7109:0.0	.	226;226	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	S	226;155;155	ENSP00000349147:A226S;ENSP00000406492:A155S;ENSP00000359559:A155S	ENSP00000349147:A226S	A	+	1	0	CNNM1	101079810	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.354000	0.73036	0.842000	0.35045	0.455000	0.32223	GCG		PASS	0.746	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		4	0	4	0	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121691695	121691695	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr10:121691695A>C	ENST00000369075.3	+	16	2695	c.2623A>C	c.(2623-2625)Att>Ctt	p.I875L	SEC23IP_ENST00000543134.1_Missense_Mutation_p.I664L|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	875	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I875L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCAGGGTTTTATTAGCTCTCT	0.403																																						uc001leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2623-2625)ATT>CTT		Sec23-interacting protein p125							121.0	122.0	122.0					10																	121691695		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121691695A>C	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2623A>C	10.37:g.121691695A>C	ENSP00000358071:p.Ile875Leu					SEC23IP_uc010qtc.1_Missense_Mutation_p.I664L|SEC23IP_uc009xzk.1_RNA	p.I875L	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	16	2695	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	875			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2623A>C	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.288817	0.23478	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.28895	1.59;1.61	5.51	5.51	0.81932	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	N	0.21282	0.65	0.80722	D	1	B;B	0.28783	0.222;0.13	B;B	0.36666	0.093;0.23	T	0.02893	-1.1097	10	0.02654	T	1	-22.5384	15.924	0.79597	1.0:0.0:0.0:0.0	.	664;875	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	L	875;664	ENSP00000358071:I875L;ENSP00000438773:I664L	ENSP00000358071:I875L	I	+	1	0	SEC23IP	121681685	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	4.908000	0.63307	2.217000	0.71921	0.533000	0.62120	ATT		PASS	0.403	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			39	55	39	55	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1261412	1261412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:1261412C>A	ENST00000529681.1	+	30	3835	c.3777C>A	c.(3775-3777)tgC>tgA	p.C1259*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1262*|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1259	Cys-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.C1259*(1)|p.C1262*(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGCCTGCACCTGCACCT	0.647																																						uc009ycr.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(5854-5856)TGC>TGA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							30.0	35.0	34.0					11																	1261412		2123	4234	6357	SO:0001587	stop_gained	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1261412C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3777C>A	11.37:g.1261412C>A	ENSP00000436812:p.Cys1259*					MUC5B_uc001ltb.2_Nonsense_Mutation_p.C1262*|MUC5B_uc001lta.2_Nonsense_Mutation_p.C927*	p.C1952*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	46	5982	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1259			Cys-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	ENST00000529681.1	37	c.5856C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	41	8.697135	0.98918	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.76	-0.623	0.11556	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7669	0.46299	0.0:0.4947:0.0:0.5053	.	.	.	.	X	1259;1262;1260;1329	.	ENSP00000343037:C1260X	C	+	3	2	MUC5B	1217988	0.001000	0.12720	0.456000	0.27044	0.725000	0.41563	-0.211000	0.09332	0.083000	0.17047	0.457000	0.33378	TGC		PASS	0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	21	3	21	---	---	---	---
OSBPL5	114879	broad.mit.edu	37	11	3125526	3125526	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:3125526C>A	ENST00000263650.7	-	10	1300	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	OSBPL5_ENST00000389989.3_Missense_Mutation_p.G313C|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Missense_Mutation_p.G313C|OSBPL5_ENST00000525498.1_Missense_Mutation_p.G292C	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	381					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.G381C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGGTCCATGCCTGGCCGTAGC	0.612																																						uc001lxk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1141-1143)GGC>TGC		oxysterol-binding protein-like protein 5 isoform							114.0	80.0	92.0					11																	3125526		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3125526C>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1141G>T	11.37:g.3125526C>A	ENSP00000263650:p.Gly381Cys					OSBPL5_uc010qxq.1_Missense_Mutation_p.G292C|OSBPL5_uc009ydw.2_Missense_Mutation_p.G313C|OSBPL5_uc001lxl.2_Missense_Mutation_p.G313C|OSBPL5_uc009ydx.2_Missense_Mutation_p.G405C	p.G381C	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	10	1299	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	381					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.1141G>T	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791075	0.90367	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	H	0.99011	4.4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.91168	0.4966	10	0.87932	D	0	-26.7577	17.1146	0.86685	0.0:1.0:0.0:0.0	.	292;342;313;381	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	C	381;313;292;313	ENSP00000263650:G381C;ENSP00000374639:G313C;ENSP00000433342:G292C;ENSP00000302872:G313C	ENSP00000263650:G381C	G	-	1	0	OSBPL5	3082102	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.013000	0.76373	2.257000	0.74773	0.555000	0.69702	GGC		PASS	0.612	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			8	47	8	47	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020628	5020628	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:5020628C>G	ENST00000321543.1	+	1	416	c.416C>G	c.(415-417)aCc>aGc	p.T139S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T139S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCATCCTCACCAACAGTGTA	0.488																																						uc010qyu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(415-417)ACC>AGC		olfactory receptor, family 51, subfamily L,							327.0	280.0	296.0					11																	5020628		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020628C>G	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.416C>G	11.37:g.5020628C>G	ENSP00000322156:p.Thr139Ser						p.T139S	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	416	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	139			Cytoplasmic (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.416C>G	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054174	0.19907	.	.	ENSG00000176798	ENST00000321543	T	0.01034	5.42	5.18	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.318671	0.22695	N	0.056765	T	0.01353	0.0044	L	0.48642	1.525	0.22280	N	0.999238	B	0.31077	0.307	B	0.28385	0.089	T	0.43426	-0.9392	10	0.72032	D	0.01	.	12.5637	0.56297	0.3005:0.6995:0.0:0.0	.	139	Q8NGJ5	O51L1_HUMAN	S	139	ENSP00000322156:T139S	ENSP00000322156:T139S	T	+	2	0	OR51L1	4977204	0.336000	0.24757	1.000000	0.80357	0.405000	0.30901	1.293000	0.33353	1.390000	0.46547	0.557000	0.71058	ACC		PASS	0.488	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		39	166	39	166	---	---	---	---
TRIM34	53840	broad.mit.edu	37	11	5663637	5663637	+	Splice_Site	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:5663637A>G	ENST00000514226.1	+	6	1112	c.775A>G	c.(775-777)Agt>Ggt	p.S259G	TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.S613G|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000429814.2_Splice_Site_p.S259G|TRIM6-TRIM34_ENST00000457787.2_Splice_Site_p.S259G|HBG2_ENST00000380259.2_Intron	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	259					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.S259G(1)|p.S613G(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTAGGAGTGAGATCTG	0.443																																						uc001mbf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1837-1839)AGT>GGT		tripartite motif-containing 6 and tripartite							85.0	84.0	84.0					11																	5663637		2201	4297	6498	SO:0001630	splice_region_variant	445372					intracellular	zinc ion binding	g.chr11:5663637A>G	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.774-1A>G	11.37:g.5663637A>G						HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.S259G|TRIM34_uc009yeq.2_Missense_Mutation_p.S14G|TRIM34_uc001mbi.2_Missense_Mutation_p.S259G|TRIM78P_uc009yer.2_5'Flank	p.S613G	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	12	2081	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	613					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1837A>G	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	A	8.121	0.780971	0.16120	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	3.02	1.84	0.25277	.	.	.	.	.	T	0.12518	0.0304	M	0.91768	3.24	0.23314	N	0.997923	B;B	0.27853	0.047;0.191	B;B	0.27887	0.046;0.084	T	0.16660	-1.0395	9	0.42905	T	0.14	.	5.5131	0.16892	0.7547:0.0:0.0:0.2453	.	259;613	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	G	613;259;259;259;613	ENSP00000422947:S259G;ENSP00000402595:S259G;ENSP00000395982:S259G;ENSP00000346916:S613G	ENSP00000402595:S259G	S	+	1	0	TRIM34;TRIM6-TRIM34	5620213	0.999000	0.42202	0.999000	0.59377	0.267000	0.26476	0.294000	0.19047	0.513000	0.28278	0.377000	0.23210	AGT		PASS	0.443	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	Missense_Mutation	10	71	10	71	---	---	---	---
OR52E8	390079	broad.mit.edu	37	11	5878630	5878630	+	Silent	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:5878630T>A	ENST00000537935.1	-	1	334	c.303A>T	c.(301-303)ggA>ggT	p.G101G	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G101G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGCAGCCTCCAAAAGATA	0.468																																						uc010qzr.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(301-303)GGA>GGT		olfactory receptor, family 52, subfamily E,							163.0	179.0	174.0					11																	5878630		2153	4296	6449	SO:0001819	synonymous_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878630T>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.303A>T	11.37:g.5878630T>A						TRIM5_uc001mbq.1_Intron	p.G101G	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	303	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	101			Extracellular (Potential).		B9EH38	Silent	SNP	ENST00000537935.1	37	c.303A>T	CCDS31400.1																																																																																				PASS	0.468	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		37	187	37	187	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6191058	6191058	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:6191058G>T	ENST00000530810.1	-	1	580	c.499C>A	c.(499-501)Cgg>Agg	p.R167R	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167R(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGGCAGCCGCTTCAGCAAG	0.488																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(499-501)CGG>AGG		olfactory receptor, family 52, subfamily B,							61.0	61.0	61.0					11																	6191058		2098	4221	6319	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191058G>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.499C>A	11.37:g.6191058G>T							p.R167R	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	499	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	167			Extracellular (Potential).		Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.499C>A	CCDS53598.1																																																																																				PASS	0.488	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		8	43	8	43	---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7334699	7334699	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:7334699C>A	ENST00000318881.6	+	3	808	c.571C>A	c.(571-573)Cag>Aag	p.Q191K	SYT9_ENST00000396716.2_Missense_Mutation_p.Q159K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	191					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.Q191K(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AAAACAGGAACAGTTGACTGG	0.413																																						uc001mfe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(571-573)CAG>AAG		synaptotagmin IX							73.0	74.0	74.0					11																	7334699		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334699C>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.571C>A	11.37:g.7334699C>A	ENSP00000324419:p.Gln191Lys					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.Q191K	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	808	+			191			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000318881.6	37	c.571C>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.421068	0.42918	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.56275	0.47;0.55	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000003	T	0.51686	0.1689	M	0.63843	1.955	0.38350	D	0.944326	B	0.13594	0.008	B	0.19148	0.024	T	0.49322	-0.8952	10	0.16420	T	0.52	.	18.0311	0.89285	0.0:1.0:0.0:0.0	.	191	Q86SS6	SYT9_HUMAN	K	159;191	ENSP00000379944:Q159K;ENSP00000324419:Q191K	ENSP00000324419:Q191K	Q	+	1	0	SYT9	7291275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.698000	0.68302	2.932000	0.99384	0.643000	0.83706	CAG		PASS	0.413	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		10	50	10	50	---	---	---	---
USP47	55031	broad.mit.edu	37	11	11964541	11964541	+	Missense_Mutation	SNP	A	A	C	rs201961746	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:11964541A>C	ENST00000399455.2	+	21	3153	c.3033A>C	c.(3031-3033)gaA>gaC	p.E1011D	USP47_ENST00000339865.5_Missense_Mutation_p.E923D|USP47_ENST00000527733.1_Missense_Mutation_p.E991D|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1011					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.E923D(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAGCAGAAGAAGACTCTGGAA	0.408													A|||	3	0.000599042	0.0	0.0043	5008	,	,		21792	0.0		0.0	False		,,,				2504	0.0					uc001mjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3031-3033)GAA>GAC		ubiquitin specific protease 47		A	ASP/GLU	0,3868		0,0,1934	156.0	148.0	151.0		2769	4.9	1.0	11		151	4,8264		0,4,4130	yes	missense	USP47	NM_017944.3	45	0,4,6064	CC,CA,AA		0.0484,0.0,0.033	possibly-damaging	923/1288	11964541	4,12132	1934	4134	6068	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11964541A>C	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3033A>C	11.37:g.11964541A>C	ENSP00000382382:p.Glu1011Asp					USP47_uc001mjr.2_Missense_Mutation_p.E923D|USP47_uc001mjs.2_Missense_Mutation_p.E991D|USP47_uc001mjt.1_Missense_Mutation_p.E297D	p.E1011D	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	21	3796	+			1011					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3033A>C		.	.	.	.	.	.	.	.	.	.	A	12.05	1.822104	0.32237	0.0	4.84E-4	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.04502	3.61;3.61;3.61	6.02	4.9	0.64082	.	0.042794	0.85682	D	0.000000	T	0.08714	0.0216	N	0.24115	0.695	0.80722	D	1	P;B;B	0.52842	0.956;0.071;0.116	D;B;B	0.65010	0.931;0.048;0.103	T	0.43605	-0.9381	10	0.30854	T	0.27	.	8.1225	0.30980	0.7847:0.0:0.2153:0.0	.	1011;991;923	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	D	923;991;1011	ENSP00000339957:E923D;ENSP00000433146:E991D;ENSP00000382382:E1011D	ENSP00000339957:E923D	E	+	3	2	USP47	11921117	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	1.595000	0.36708	1.106000	0.41623	0.482000	0.46254	GAA		PASS	0.408	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		22	67	22	67	---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16007843	16007843	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:16007843G>A	ENST00000352083.6	-	15	2167	c.2090C>T	c.(2089-2091)aCc>aTc	p.T697I	SOX6_ENST00000527619.1_Missense_Mutation_p.T673I|SOX6_ENST00000528429.1_Missense_Mutation_p.T697I|SOX6_ENST00000396356.3_Missense_Mutation_p.T677I|SOX6_ENST00000316399.6_Missense_Mutation_p.T677I|SOX6_ENST00000528252.1_Missense_Mutation_p.T670I			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	697					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T673I(1)|p.T677I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AACAATGCAGGTGCGTTTCGG	0.468																																						uc001mme.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2128-2130)ACC>ATC		SRY (sex determining region Y)-box 6 isoform 4							218.0	206.0	210.0					11																	16007843		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007843G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2090C>T	11.37:g.16007843G>A	ENSP00000339876:p.Thr697Ile					SOX6_uc001mmd.2_Missense_Mutation_p.T673I|SOX6_uc001mmf.2_Missense_Mutation_p.T670I|SOX6_uc001mmg.2_Missense_Mutation_p.T677I	p.T710I	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			15	2162	-			697					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.2129C>T		.	.	.	.	.	.	.	.	.	.	G	25.7	4.662986	0.88251	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.6	5.6	0.85130	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.999	D;D;D	0.91635	0.999;0.99;0.994	T	0.79524	-0.1768	10	0.87932	D	0	.	19.6107	0.95606	0.0:0.0:1.0:0.0	.	677;697;673	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	I	677;697;677;670;673;697	ENSP00000324948:T677I;ENSP00000339876:T697I;ENSP00000379644:T677I;ENSP00000432134:T670I;ENSP00000434455:T673I;ENSP00000433233:T697I	ENSP00000324948:T677I	T	-	2	0	SOX6	15964419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.648000	0.89879	0.655000	0.94253	ACC		PASS	0.468	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		23	229	23	229	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18195179	18195179	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:18195179T>A	ENST00000314254.3	+	1	796	c.376T>A	c.(376-378)Tgg>Agg	p.W126R	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W126R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTCTGTTCTGTGGCCCATCTG	0.587																																						uc001mnv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(376-378)TGG>AGG		MAS-related GPR, member X4							144.0	136.0	139.0					11																	18195179		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195179T>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.376T>A	11.37:g.18195179T>A	ENSP00000314042:p.Trp126Arg						p.W126R	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	796	+			126			Cytoplasmic (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.376T>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499219	0.26861	.	.	ENSG00000179817	ENST00000314254	T	0.34667	1.35	2.86	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.793562	0.11776	N	0.530605	T	0.33702	0.0872	L	0.55743	1.74	0.09310	N	1	B	0.32101	0.356	B	0.37387	0.248	T	0.29336	-1.0015	10	0.42905	T	0.14	.	5.9472	0.19225	0.0:0.1406:0.0:0.8594	.	126	Q96LA9	MRGX4_HUMAN	R	126	ENSP00000314042:W126R	ENSP00000314042:W126R	W	+	1	0	MRGPRX4	18151755	0.001000	0.12720	0.003000	0.11579	0.054000	0.15201	0.951000	0.29135	0.334000	0.23590	0.358000	0.22013	TGG		PASS	0.587	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		24	161	24	161	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35287091	35287091	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:35287091T>A	ENST00000278379.3	-	10	1918	c.1636A>T	c.(1636-1638)Ata>Tta	p.I546L	SLC1A2_ENST00000395750.1_Missense_Mutation_p.I537L|SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395753.1_Missense_Mutation_p.I537L|SLC1A2_ENST00000606205.1_Missense_Mutation_p.I546L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	546					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.I546L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCATCTACTATGACAGAGTTG	0.358																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1636-1638)ATA>TTA		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						322.0	280.0	294.0					11																	35287091		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35287091T>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1636A>T	11.37:g.35287091T>A	ENSP00000278379:p.Ile546Leu					SLC1A2_uc001mwe.2_Missense_Mutation_p.I537L|SLC1A2_uc010rev.1_Missense_Mutation_p.I546L	p.I546L	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		10	2228	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	546					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1636A>T	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	T	7.954	0.745515	0.15710	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000464522	T;T;T	0.54071	0.59;0.6;0.6	5.99	3.7	0.42460	.	0.271198	0.46442	D	0.000291	T	0.27663	0.0680	N	0.08118	0	0.27669	N	0.946831	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12426	-1.0548	10	0.31617	T	0.26	-17.054	5.8725	0.18810	0.0:0.1432:0.14:0.7168	.	546;546	B4DQE9;P43004	.;EAA2_HUMAN	L	546;537;537;68	ENSP00000278379:I546L;ENSP00000379099:I537L;ENSP00000379102:I537L	ENSP00000278379:I546L	I	-	1	0	SLC1A2	35243667	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	1.169000	0.31871	0.532000	0.28657	-0.250000	0.11733	ATA		PASS	0.358	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		27	128	27	128	---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45265746	45265746	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:45265746C>A	ENST00000020926.3	-	6	1249	c.1138G>T	c.(1138-1140)Ggc>Tgc	p.G380C		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	380	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.G380C(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCGTCCTGGCCCAGCACTTCC	0.602																																						uc001myq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1138-1140)GGC>TGC		synaptotagmin XIII							94.0	82.0	86.0					11																	45265746		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45265746C>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1138G>T	11.37:g.45265746C>A	ENSP00000020926:p.Gly380Cys					SYT13_uc009yku.1_Missense_Mutation_p.G236C	p.G380C	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			6	1264	-			380			C2 2.|Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.1138G>T	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277132	0.59758	.	.	ENSG00000019505	ENST00000020926	T	0.69435	-0.4	5.54	2.69	0.31865	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.285628	0.35096	N	0.003450	T	0.64305	0.2586	L	0.32530	0.975	0.34430	D	0.698447	D	0.63880	0.993	P	0.60173	0.87	T	0.69712	-0.5071	10	0.87932	D	0	.	3.9962	0.09559	0.1557:0.4707:0.0:0.3735	.	380	Q7L8C5	SYT13_HUMAN	C	380	ENSP00000020926:G380C	ENSP00000020926:G380C	G	-	1	0	SYT13	45222322	0.999000	0.42202	0.999000	0.59377	0.844000	0.47949	1.439000	0.35013	0.319000	0.23209	0.655000	0.94253	GGC		PASS	0.602	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		11	35	11	35	---	---	---	---
ZNF408	79797	broad.mit.edu	37	11	46726892	46726892	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:46726892G>C	ENST00000311764.2	+	5	1872	c.1642G>C	c.(1642-1644)Ggg>Cgg	p.G548R		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.G548L(1)|p.G548R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCACACACCGGGGAGGCCCA	0.672																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	uc001nde.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1642-1644)GGG>CGG		zinc finger protein 408							32.0	27.0	29.0					11																	46726892		2196	4294	6490	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726892G>C	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1642G>C	11.37:g.46726892G>C	ENSP00000309606:p.Gly548Arg					ZNF408_uc010rgw.1_Missense_Mutation_p.G540R	p.G548R	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN			5	1872	+			548						Missense_Mutation	SNP	ENST00000311764.2	37	c.1642G>C	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374602	0.82573	.	.	ENSG00000175213	ENST00000311764	T	0.20738	2.05	5.59	4.68	0.58851	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000336	T	0.42854	0.1221	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.37865	-0.9687	10	0.87932	D	0	-32.2763	14.2431	0.65971	0.0717:0.0:0.9283:0.0	.	540;548	B4DXY4;Q9H9D4	.;ZN408_HUMAN	R	548	ENSP00000309606:G548R	ENSP00000309606:G548R	G	+	1	0	ZNF408	46683468	1.000000	0.71417	0.635000	0.29338	0.885000	0.51271	5.699000	0.68310	1.359000	0.45940	0.462000	0.41574	GGG		PASS	0.672	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		5	30	5	30	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47365127	47365127	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:47365127T>A	ENST00000545968.1	-	13	1193	c.1139A>T	c.(1138-1140)aAg>aTg	p.K380M	MYBPC3_ENST00000399249.2_Missense_Mutation_p.K380M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.K380M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	380	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.K380M(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CAGCCGGATCTTGTGGCCTTT	0.647																																						uc001nfa.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1138-1140)AAG>ATG		myosin binding protein C, cardiac							51.0	52.0	51.0					11																	47365127		1999	4171	6170	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47365127T>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1139A>T	11.37:g.47365127T>A	ENSP00000442795:p.Lys380Met					MYBPC3_uc010rhl.1_5'Flank	p.K380M	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	13	1194	-			380			Ig-like C2-type 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.1139A>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	t	22.3	4.265149	0.80358	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.43294	0.95;0.95;0.95	4.99	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63745	0.2537	M	0.79805	2.47	0.50313	D	0.999861	D	0.89917	1.0	D	0.91635	0.999	T	0.66881	-0.5811	9	0.87932	D	0	.	10.7221	0.46046	0.0:0.0751:0.0:0.9249	.	380	Q14896	MYPC3_HUMAN	M	380	ENSP00000442795:K380M;ENSP00000382193:K380M;ENSP00000256993:K380M	ENSP00000256993:K380M	K	-	2	0	MYBPC3	47321703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.637000	0.67854	0.927000	0.37143	0.456000	0.33151	AAG		PASS	0.647	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			6	17	6	17	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48267133	48267133	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:48267133T>C	ENST00000302329.3	+	1	526	c.478T>C	c.(478-480)Ttc>Ctc	p.F160L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F160L(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCACCTGCTCTTCTGTGGCCC	0.483																																						uc001ngs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)TTC>CTC		olfactory receptor, family 4, subfamily X,							282.0	249.0	261.0					11																	48267133		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267133T>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.478T>C	11.37:g.48267133T>C	ENSP00000307751:p.Phe160Leu						p.F160L	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	478	+			160			Extracellular (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.478T>C	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437889	0.43326	.	.	ENSG00000172208	ENST00000302329	T	0.00039	8.85	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.00271	0.0008	M	0.71920	2.185	0.29180	N	0.876536	B	0.29481	0.245	B	0.39531	0.302	T	0.07578	-1.0765	10	0.87932	D	0	.	13.3324	0.60495	0.0:0.0:0.0:1.0	.	160	Q8NGF9	OR4X2_HUMAN	L	160	ENSP00000307751:F160L	ENSP00000307751:F160L	F	+	1	0	OR4X2	48223709	1.000000	0.71417	0.991000	0.47740	0.433000	0.31745	7.608000	0.82898	2.020000	0.59435	0.528000	0.53228	TTC		PASS	0.483	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		32	262	32	262	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003572	50003572	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:50003572T>C	ENST00000335238.4	-	1	499	c.466A>G	c.(466-468)Att>Gtt	p.I156V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I156V(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AGAATCTGAATAGTTGCATGA	0.478																																						uc010ria.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(466-468)ATT>GTT		olfactory receptor, family 4, subfamily C,							137.0	143.0	141.0					11																	50003572		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003572T>C	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.466A>G	11.37:g.50003572T>C	ENSP00000334418:p.Ile156Val						p.I156V	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	466	-			156			Helical; Name=4; (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.466A>G	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	2.959	-0.214952	0.06101	.	.	ENSG00000221954	ENST00000335238	T	0.36699	1.24	2.98	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.348430	0.19951	N	0.102436	T	0.18593	0.0446	N	0.12611	0.24	0.09310	N	1	B	0.18013	0.025	B	0.30782	0.12	T	0.25012	-1.0144	10	0.21540	T	0.41	.	4.9866	0.14192	0.0:0.2725:0.0:0.7275	.	156	Q96R67	OR4CC_HUMAN	V	156	ENSP00000334418:I156V	ENSP00000334418:I156V	I	-	1	0	OR4C12	49960148	0.000000	0.05858	0.933000	0.37362	0.431000	0.31685	-0.407000	0.07178	0.358000	0.24211	0.325000	0.21440	ATT		PASS	0.478	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		37	165	37	165	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890376	55890376	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:55890376C>T	ENST00000313472.3	+	1	528	c.528C>T	c.(526-528)caC>caT	p.H176H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H176H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TAATTCATCACTTTTTCTGTG	0.428																																						uc001nii.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(526-528)CAC>CAT		olfactory receptor, family 8, subfamily H,							247.0	223.0	231.0					11																	55890376		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890376C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.528C>T	11.37:g.55890376C>T							p.H176H	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	528	+	Esophageal squamous(21;0.00693)		176			Extracellular (Potential).		Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.528C>T	CCDS31519.1																																																																																				PASS	0.428	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		5	142	5	142	---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56344762	56344762	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:56344762T>C	ENST00000526812.2	-	1	501	c.436A>G	c.(436-438)Act>Gct	p.T146A		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T146A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TAAGGCACAGTGACCAGAGAG	0.443																																						uc001niz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)ACT>GCT		olfactory receptor, family 5, subfamily M,							183.0	172.0	176.0					11																	56344762		2016	4203	6219	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344762T>C	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.436A>G	11.37:g.56344762T>C	ENSP00000436004:p.Thr146Ala						p.T146A	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	436	-			146			Helical; Name=4; (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.436A>G	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	t	0.014	-1.583554	0.00872	.	.	ENSG00000254834	ENST00000526812	T	0.33438	1.41	4.04	-2.77	0.05877	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09379	0.0231	N	0.01473	-0.845	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37663	-0.9696	9	0.02654	T	1	.	13.177	0.59633	0.0:0.6923:0.0:0.3077	.	146	Q6IEU7	OR5MA_HUMAN	A	146	ENSP00000436004:T146A	ENSP00000436004:T146A	T	-	1	0	OR5M10	56101338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.274000	0.02820	-0.676000	0.05238	-0.312000	0.09012	ACT		PASS	0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		26	87	26	87	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409758	56409758	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:56409758A>T	ENST00000302981.1	-	1	157	c.158T>A	c.(157-159)gTa>gAa	p.V53E	OR5AP2_ENST00000544374.1_Missense_Mutation_p.V54E	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V53E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTTAATCAATACAATCATCCC	0.428																																						uc001njb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(157-159)GTA>GAA		olfactory receptor, family 5, subfamily AP,							101.0	93.0	96.0					11																	56409758		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409758A>T	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.158T>A	11.37:g.56409758A>T	ENSP00000303111:p.Val53Glu						p.V53E	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	158	-			53			Helical; Name=1; (Potential).		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.158T>A	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	A	5.777	0.327637	0.10956	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.01139	5.28;5.28	5.04	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	1.044010	0.07606	N	0.924538	T	0.02380	0.0073	M	0.84326	2.69	0.09310	N	1	B	0.33413	0.411	B	0.32583	0.148	T	0.44421	-0.9329	10	0.49607	T	0.09	.	3.7015	0.08384	0.4317:0.2774:0.291:0.0	.	53	Q8NGF4	O5AP2_HUMAN	E	54;53	ENSP00000442701:V54E;ENSP00000303111:V53E	ENSP00000303111:V53E	V	-	2	0	OR5AP2	56166334	0.000000	0.05858	0.001000	0.08648	0.183000	0.23260	-0.230000	0.09083	0.416000	0.25844	-0.436000	0.05848	GTA		PASS	0.428	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		15	51	15	51	---	---	---	---
OR5AR1	219493	broad.mit.edu	37	11	56431618	56431618	+	Missense_Mutation	SNP	C	C	A	rs77272836	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:56431618C>A	ENST00000302969.2	+	1	481	c.457C>A	c.(457-459)Cta>Ata	p.L153I		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L153I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CCTGGCTGGTCTAGTGAGTTT	0.502																																						uc010rjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)CTA>ATA		olfactory receptor, family 5, subfamily AR,							204.0	181.0	189.0					11																	56431618		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431618C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.457C>A	11.37:g.56431618C>A	ENSP00000302639:p.Leu153Ile						p.L153I	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	457	+			153			Helical; Name=4; (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.457C>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	8.109	0.778424	0.16120	.	.	ENSG00000172459	ENST00000302969	T	0.00216	8.53	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	N	0.002115	T	0.00178	0.0005	L	0.28776	0.89	0.09310	N	1	P	0.43788	0.817	P	0.47744	0.556	T	0.49899	-0.8890	10	0.39692	T	0.17	.	6.4041	0.21654	0.0:0.6835:0.1517:0.1648	.	153	Q8NGP9	O5AR1_HUMAN	I	153	ENSP00000302639:L153I	ENSP00000302639:L153I	L	+	1	2	OR5AR1	56188194	0.000000	0.05858	0.974000	0.42286	0.857000	0.48899	-0.810000	0.04505	1.317000	0.45149	0.573000	0.79308	CTA		PASS	0.502	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		33	153	33	153	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298001	62298001	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:62298001A>T	ENST00000378024.4	-	5	4162	c.3888T>A	c.(3886-3888)gaT>gaA	p.D1296E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1296					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.D1296E(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAAGGCTCACATCTGGGACTT	0.557																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3886-3888)GAT>GAA		AHNAK nucleoprotein isoform 1							151.0	161.0	158.0					11																	62298001		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298001A>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3888T>A	11.37:g.62298001A>T	ENSP00000367263:p.Asp1296Glu					AHNAK_uc001ntk.1_Intron	p.D1296E	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4188	-		Melanoma(852;0.155)	1296					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3888T>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	5.239	0.229497	0.09916	.	.	ENSG00000124942	ENST00000378024	T	0.00518	6.86	4.51	2.16	0.27623	.	0.000000	0.32687	U	0.005765	T	0.00524	0.0017	M	0.63428	1.95	0.18873	N	0.999981	B	0.17852	0.024	B	0.26614	0.071	T	0.43294	-0.9400	10	0.25751	T	0.34	.	7.1326	0.25510	0.7313:0.0:0.2687:0.0	.	1296	Q09666	AHNK_HUMAN	E	1296	ENSP00000367263:D1296E	ENSP00000367263:D1296E	D	-	3	2	AHNAK	62054577	0.000000	0.05858	0.881000	0.34555	0.018000	0.09664	-0.029000	0.12329	0.229000	0.21039	-0.273000	0.10243	GAT		PASS	0.557	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		51	252	51	252	---	---	---	---
RBM14	10432	broad.mit.edu	37	11	66391822	66391822	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:66391822G>C	ENST00000310137.4	+	2	614	c.475G>C	c.(475-477)Gtc>Ctc	p.V159L	RBM14_ENST00000443702.1_3'UTR|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409372.1_3'UTR|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000461478.1_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000503028.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	159					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.V159L(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGGCCTGGCTGTCCAGTCTGG	0.592																																						uc001oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(475-477)GTC>CTC		RNA binding motif protein 14							57.0	60.0	59.0					11																	66391822		2200	4295	6495	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66391822G>C	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.475G>C	11.37:g.66391822G>C	ENSP00000311747:p.Val159Leu					RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	p.V159L	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN			2	614	+			159					B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.475G>C	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	8.943	0.966328	0.18659	.	.	ENSG00000239306	ENST00000310137	T	0.80824	-1.42	5.71	-1.69	0.08186	.	0.571339	0.17781	N	0.162252	T	0.59918	0.2229	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37865	-0.9687	10	0.27785	T	0.31	-0.0023	13.4442	0.61131	0.2309:0.0:0.7691:0.0	.	159	Q96PK6	RBM14_HUMAN	L	159	ENSP00000311747:V159L	ENSP00000311747:V159L	V	+	1	0	RBM14	66148398	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	1.409000	0.34680	-0.219000	0.10003	-0.345000	0.07892	GTC		PASS	0.592	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		7	58	7	58	---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71208566	71208566	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:71208566A>G	ENST00000319023.2	+	19	1990	c.1802A>G	c.(1801-1803)tAt>tGt	p.Y601C	NADSYN1_ENST00000530055.1_Missense_Mutation_p.Y230C|NADSYN1_ENST00000539574.1_Missense_Mutation_p.Y341C	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	601	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.Y601C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTCTCGGTCTATGGGAAACTC	0.532																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1801-1803)TAT>TGT		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						123.0	118.0	120.0					11																	71208566		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71208566A>G	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1802A>G	11.37:g.71208566A>G	ENSP00000326424:p.Tyr601Cys					NADSYN1_uc001oqo.2_Missense_Mutation_p.Y341C|NADSYN1_uc001oqp.2_Missense_Mutation_p.Y230C	p.Y601C	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			19	1928	+			601			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1802A>G	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	.	17.36	3.371051	0.61624	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.49432	0.78;0.78;0.78	4.81	-4.24	0.03777	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.482456	0.20914	N	0.083411	T	0.59252	0.2180	M	0.76170	2.325	0.35181	D	0.772498	D;D	0.63880	0.993;0.988	D;D	0.64687	0.928;0.923	T	0.68089	-0.5501	10	0.87932	D	0	-12.4605	11.0765	0.48034	0.3997:0.0:0.0:0.6003	.	341;601	B3KUU4;Q6IA69	.;NADE_HUMAN	C	601;341;230	ENSP00000326424:Y601C;ENSP00000443718:Y341C;ENSP00000431820:Y230C	ENSP00000326424:Y601C	Y	+	2	0	NADSYN1	70886214	0.684000	0.27642	0.298000	0.25002	0.890000	0.51754	1.154000	0.31688	-0.611000	0.05709	0.482000	0.46254	TAT		PASS	0.532	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		15	50	15	50	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89431764	89431764	+	RNA	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:89431764C>A	ENST00000532352.1	+	0	2046							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.A442A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTGAAGTAGCCTAAGAGGATT	0.398																																						uc001pda.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1324-1326)GCC>GCA		folate hydrolase 1B							65.0	68.0	67.0					11																	89431764		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89431764C>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431764C>A							p.A442A	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			14	1852	+			442						Silent	SNP	ENST00000532352.1	37	c.1326C>A																																																																																					PASS	0.398	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		10	76	10	76	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120673443	120673443	+	Silent	SNP	C	C	A	rs139978243	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:120673443C>A	ENST00000527524.2	+	4	411	c.124C>A	c.(124-126)Cgg>Agg	p.R42R	GRIK4_ENST00000438375.2_Silent_p.R42R	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	42					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R42R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAGAGGGGAGCGGCTCTCCAT	0.587											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pxn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(124-126)CGG>AGG		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						97.0	87.0	90.0					11																	120673443		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120673443C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.124C>A	11.37:g.120673443C>A			OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1505	GRIK4_uc009zav.1_Silent_p.R42R|GRIK4_uc009zaw.1_Silent_p.R42R|GRIK4_uc009zax.1_Silent_p.R42R	p.R42R	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	4	411	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	42			Extracellular (Potential).		A8K9L1	Silent	SNP	ENST00000527524.2	37	c.124C>A	CCDS8433.1																																																																																				PASS	0.587	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		14	70	14	70	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120827614	120827614	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:120827614C>G	ENST00000527524.2	+	16	2113	c.1826C>G	c.(1825-1827)tCc>tGc	p.S609C	GRIK4_ENST00000438375.2_Missense_Mutation_p.S609C	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	609					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S609C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAGCAAGGCTCCACCATCGCC	0.647																																						uc001pxn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1825-1827)TCC>TGC		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						62.0	49.0	53.0					11																	120827614		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120827614C>G	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1826C>G	11.37:g.120827614C>G	ENSP00000435648:p.Ser609Cys					GRIK4_uc009zav.1_Missense_Mutation_p.S609C|GRIK4_uc009zaw.1_Missense_Mutation_p.S609C|GRIK4_uc009zax.1_Missense_Mutation_p.S609C	p.S609C	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	16	2113	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	609			Cytoplasmic (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1826C>G	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939451	0.73557	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.52057	0.68;0.68	4.96	4.96	0.65561	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	L	0.28115	0.83	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.48364	-0.9042	10	0.18710	T	0.47	.	18.1756	0.89760	0.0:1.0:0.0:0.0	.	609;609	A6H8K8;Q16099	.;GRIK4_HUMAN	C	609	ENSP00000435648:S609C;ENSP00000404063:S609C	ENSP00000404063:S609C	S	+	2	0	GRIK4	120332824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.959000	0.70339	2.458000	0.83093	0.655000	0.94253	TCC		PASS	0.647	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		12	35	12	35	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124740079	124740079	+	Missense_Mutation	SNP	G	G	T	rs374221689		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:124740079G>T	ENST00000397801.1	+	5	977	c.785G>T	c.(784-786)cGc>cTc	p.R262L	ROBO3_ENST00000538940.1_Missense_Mutation_p.R240L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	262	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.R262L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCATTCCTGCGCAGACCAGTG	0.552																																						uc001qbc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(784-786)CGC>CTC		roundabout, axon guidance receptor, homolog 3							124.0	129.0	127.0					11																	124740079		2057	4199	6256	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740079G>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.785G>T	11.37:g.124740079G>T	ENSP00000380903:p.Arg262Leu						p.R262L	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	5	977	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	262			Ig-like C2-type 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.785G>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570935	0.65765	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.67865	-0.29;-0.29	4.92	2.99	0.34606	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36972	N	0.002308	T	0.65196	0.2668	N	0.20304	0.555	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.64300	-0.6440	10	0.59425	D	0.04	.	6.492	0.22121	0.1591:0.0:0.6928:0.1481	.	262	Q96MS0	ROBO3_HUMAN	L	262;240	ENSP00000380903:R262L;ENSP00000441797:R240L	ENSP00000380903:R262L	R	+	2	0	ROBO3	124245289	0.001000	0.12720	0.681000	0.30009	0.985000	0.73830	0.782000	0.26788	0.561000	0.29186	0.462000	0.41574	CGC		PASS	0.552	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		15	107	15	107	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124857197	124857197	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:124857197G>T	ENST00000344762.5	+	8	1334	c.1075G>T	c.(1075-1077)Gat>Tat	p.D359Y	CCDC15_ENST00000529051.1_Missense_Mutation_p.D359Y	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	359						centrosome (GO:0005813)		p.D359Y(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGTTAAGCCAGATACCCAGGC	0.473																																						uc001qbm.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1075-1077)GAT>TAT		coiled-coil domain containing 15							124.0	119.0	120.0					11																	124857197		1841	4096	5937	SO:0001583	missense	80071					centrosome		g.chr11:124857197G>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1075G>T	11.37:g.124857197G>T	ENSP00000341684:p.Asp359Tyr						p.D359Y	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1334	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	359					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1075G>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944179	0.34283	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.33865	1.39;1.39	4.09	2.86	0.33363	.	0.908386	0.09262	N	0.826439	T	0.47340	0.1440	L	0.50333	1.59	0.09310	N	1	D	0.60160	0.987	P	0.58391	0.838	T	0.26573	-1.0099	10	0.72032	D	0.01	-0.4323	7.9733	0.30140	0.1683:0.0:0.8317:0.0	.	359	Q0P6D6	CCD15_HUMAN	Y	359	ENSP00000435403:D359Y;ENSP00000341684:D359Y	ENSP00000341684:D359Y	D	+	1	0	CCDC15	124362407	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.275000	0.08525	0.983000	0.38602	0.462000	0.41574	GAT		PASS	0.473	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		22	130	22	130	---	---	---	---
ACAD8	27034	broad.mit.edu	37	11	134127012	134127012	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr11:134127012G>A	ENST00000281182.4	+	3	347	c.241G>A	c.(241-243)Gca>Aca	p.A81T	ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000537423.1_Missense_Mutation_p.A4T	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	81					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.A81T(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GATGCGGAAGGCAGCCCAGCT	0.532																																					GBM(65;238 1125 33403 41853 48889)	uc001qhk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GCA>ACA		acyl-Coenzyme A dehydrogenase family, member 8							98.0	90.0	93.0					11																	134127012		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134127012G>A	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.241G>A	11.37:g.134127012G>A	ENSP00000281182:p.Ala81Thr					ACAD8_uc009zdc.2_Intron|ACAD8_uc010sco.1_Intron|ACAD8_uc010scp.1_Intron|ACAD8_uc010scq.1_Missense_Mutation_p.A4T|ACAD8_uc001qhl.2_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.A43T|ACAD8_uc009zde.1_5'Flank	p.A81T	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	3	302	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	81					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.241G>A	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448030	0.96205	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000537915	D;D	0.99764	-6.68;-6.68	5.62	5.62	0.85841	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.049970	0.85682	D	0.000000	D	0.99799	0.9914	M	0.88640	2.97	0.80722	D	1	B;D;P	0.64830	0.131;0.994;0.882	B;D;P	0.70227	0.277;0.968;0.877	D	0.97833	1.0264	10	0.45353	T	0.12	.	19.6452	0.95773	0.0:0.0:1.0:0.0	.	22;4;81	B7Z767;B7Z5W4;Q9UKU7	.;.;ACAD8_HUMAN	T	81;4;43	ENSP00000281182:A81T;ENSP00000443763:A4T	ENSP00000281182:A81T	A	+	1	0	ACAD8	133632222	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	9.686000	0.98664	2.658000	0.90341	0.655000	0.94253	GCA		PASS	0.532	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		14	83	14	83	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2676868	2676868	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:2676868G>T	ENST00000347598.4	+	13	1803	c.1803G>T	c.(1801-1803)ctG>ctT	p.L601L	CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399655.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L|CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	601					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L601L(3)|p.L136L(1)|p.L631L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGGCATCCTGGAGACCATCC	0.582																																						uc009zdu.1																			5	Substitution - coding silent(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(1801-1803)CTG>CTT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						37.0	41.0	40.0					12																	2676868		2197	4298	6495	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676868G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1803G>T	12.37:g.2676868G>T						CACNA1C_uc009zdv.1_Silent_p.L598L|CACNA1C_uc001qkb.2_Silent_p.L601L|CACNA1C_uc001qkc.2_Silent_p.L601L|CACNA1C_uc001qke.2_Silent_p.L601L|CACNA1C_uc001qkf.2_Silent_p.L601L|CACNA1C_uc001qjz.2_Silent_p.L601L|CACNA1C_uc001qkd.2_Silent_p.L601L|CACNA1C_uc001qkg.2_Silent_p.L601L|CACNA1C_uc009zdw.1_Silent_p.L601L|CACNA1C_uc001qkh.2_Silent_p.L601L|CACNA1C_uc001qkl.2_Silent_p.L601L|CACNA1C_uc001qkn.2_Silent_p.L601L|CACNA1C_uc001qko.2_Silent_p.L601L|CACNA1C_uc001qkp.2_Silent_p.L601L|CACNA1C_uc001qkr.2_Silent_p.L601L|CACNA1C_uc001qku.2_Silent_p.L601L|CACNA1C_uc001qkq.2_Silent_p.L601L|CACNA1C_uc001qks.2_Silent_p.L601L|CACNA1C_uc001qkt.2_Silent_p.L601L|CACNA1C_uc001qka.1_Silent_p.L136L|CACNA1C_uc001qki.1_Silent_p.L337L|CACNA1C_uc001qkj.1_Silent_p.L337L|CACNA1C_uc001qkk.1_Silent_p.L337L|CACNA1C_uc001qkm.1_Silent_p.L337L	p.L601L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	2116	+			601			Helical; Name=S3 of repeat II; (Potential).|II.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1803G>T	CCDS44788.1																																																																																				PASS	0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		5	27	5	27	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2800348	2800348	+	Missense_Mutation	SNP	T	T	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:2800348T>G	ENST00000347598.4	+	49	6544	c.6544T>G	c.(6544-6546)Tac>Gac	p.Y2182D	CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y2175D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y2205D|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y2142D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y2134D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y2169D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y2162D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y2134D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y2153D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y2140D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.Y2134D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y2151D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y2134D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y2134D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y2134D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y2153D|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y2153D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y2159D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y2154D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y2205D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y2142D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y2169D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2217					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Y2175D(1)|p.Y2182D(1)|p.Y1669D(1)|p.Y2247D(1)|p.Y2169D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCAGGGTCTACGTCAGCAG	0.612																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(6649-6651)TAC>GAC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						24.0	32.0	30.0					12																	2800348		1944	4129	6073	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2800348T>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6544T>G	12.37:g.2800348T>G	ENSP00000266376:p.Tyr2182Asp					CACNA1C_uc009zdv.1_Missense_Mutation_p.Y2131D|CACNA1C_uc001qkb.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qkc.2_Missense_Mutation_p.Y2153D|CACNA1C_uc001qke.2_Missense_Mutation_p.Y2123D|CACNA1C_uc001qkf.2_Missense_Mutation_p.Y2142D|CACNA1C_uc001qjz.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qkd.2_Missense_Mutation_p.Y2153D|CACNA1C_uc001qkg.2_Missense_Mutation_p.Y2140D|CACNA1C_uc009zdw.1_Missense_Mutation_p.Y2175D|CACNA1C_uc001qkh.2_Missense_Mutation_p.Y2142D|CACNA1C_uc001qkl.2_Missense_Mutation_p.Y2182D|CACNA1C_uc001qkn.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qko.2_Missense_Mutation_p.Y2154D|CACNA1C_uc001qkp.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qkr.2_Missense_Mutation_p.Y2151D|CACNA1C_uc001qku.2_Missense_Mutation_p.Y2169D|CACNA1C_uc001qkq.2_Missense_Mutation_p.Y2162D|CACNA1C_uc001qks.2_Missense_Mutation_p.Y2134D|CACNA1C_uc001qkt.2_Missense_Mutation_p.Y2153D|CACNA1C_uc001qki.1_Missense_Mutation_p.Y1941D|CACNA1C_uc001qkj.1_Missense_Mutation_p.Y1905D|CACNA1C_uc001qkk.1_Missense_Mutation_p.Y1870D|CACNA1C_uc001qkm.1_Missense_Mutation_p.Y1930D|CACNA1C_uc010sea.1_Missense_Mutation_p.Y825D|uc001qkx.1_5'Flank|CACNA1C_uc001qky.1_Missense_Mutation_p.Y452D	p.Y2217D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	50	6962	+			2217			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6649T>G	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129730	0.37630	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.59	-0.769	0.11009	.	2.847770	0.01354	N	0.011992	T	0.53449	0.1797	L	0.47716	1.5	0.24107	N	0.995859	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.34015	0.078;0.116;0.004;0.084;0.068;0.056;0.302;0.116;0.116;0.302;0.321;0.004;0.011;0.068;0.009;0.041;0.011;0.031;0.056;0.004;0.435;0.116;0.056;0.004;0.004	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.38616	0.036;0.094;0.007;0.024;0.094;0.063;0.277;0.094;0.094;0.202;0.124;0.007;0.019;0.094;0.006;0.043;0.019;0.04;0.063;0.029;0.086;0.094;0.092;0.007;0.007	T	0.40459	-0.9562	10	0.48119	T	0.1	.	5.2969	0.15756	0.0:0.2396:0.139:0.6214	.	825;2175;2131;2217;2169;2153;2134;2151;2162;2134;2154;2134;2165;2182;2134;2169;2205;2142;2140;2142;2123;2153;2153;2134;2134	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	2159;2134;2134;2162;2134;2153;2153;2142;2134;2182;2154;2134;2175;2151;2169;2140;2153;2134;2205;2169;2205;2142;2035	ENSP00000336982:Y2159D;ENSP00000382563:Y2134D;ENSP00000382552:Y2134D;ENSP00000382547:Y2162D;ENSP00000382506:Y2134D;ENSP00000382530:Y2153D;ENSP00000382546:Y2153D;ENSP00000382500:Y2142D;ENSP00000382549:Y2134D;ENSP00000266376:Y2182D;ENSP00000382515:Y2154D;ENSP00000382510:Y2134D;ENSP00000341092:Y2175D;ENSP00000382537:Y2151D;ENSP00000329877:Y2169D;ENSP00000382557:Y2140D;ENSP00000385724:Y2153D;ENSP00000382512:Y2134D;ENSP00000382542:Y2205D;ENSP00000382526:Y2169D;ENSP00000385896:Y2205D;ENSP00000382504:Y2142D	ENSP00000323129:Y2035D	Y	+	1	0	CACNA1C	2670609	0.996000	0.38824	0.079000	0.20413	0.993000	0.82548	2.966000	0.49208	-0.200000	0.10300	0.482000	0.46254	TAC		PASS	0.612	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		9	35	9	35	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7528442	7528442	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:7528442C>A	ENST00000313599.3	-	10	2597	c.2540G>T	c.(2539-2541)gGa>gTa	p.G847V	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.G857V|CD163L1_ENST00000396630.1_Missense_Mutation_p.G847V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	847	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G847V(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAGTGATCTCCCACAGAAAG	0.463																																						uc001qsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2539-2541)GGA>GTA		scavenger receptor cysteine-rich type 1							115.0	107.0	110.0					12																	7528442		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528442C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2540G>T	12.37:g.7528442C>A	ENSP00000315945:p.Gly847Val					CD163L1_uc010sge.1_Missense_Mutation_p.G857V	p.G847V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			10	2566	-			847			SRCR 8.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2540G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604847	0.46423	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35236	1.32;1.32;1.32	2.84	1.93	0.25924	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.523705	0.15634	U	0.252233	T	0.53045	0.1772	M	0.72353	2.195	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.32508	-0.9904	10	0.42905	T	0.14	.	7.3528	0.26703	0.0:0.8583:0.0:0.1417	.	857;847	E7EVK4;Q9NR16	.;C163B_HUMAN	V	847;857;847	ENSP00000315945:G847V;ENSP00000393474:G857V;ENSP00000379871:G847V	ENSP00000315945:G847V	G	-	2	0	CD163L1	7419709	0.000000	0.05858	0.002000	0.10522	0.491000	0.33493	-0.181000	0.09740	0.512000	0.28257	0.455000	0.32223	GGA		PASS	0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		30	104	30	104	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7633838	7633838	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:7633838C>A	ENST00000359156.4	-	15	3464	c.3262G>T	c.(3262-3264)Gag>Tag	p.E1088*	CD163_ENST00000396620.3_Nonsense_Mutation_p.E1121*|CD163_ENST00000432237.2_Nonsense_Mutation_p.E1088*|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Nonsense_Mutation_p.E1076*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1088					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E1088*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ACTAAGTTCTCTCCTCTTGAG	0.428																																						uc001qsz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(3262-3264)GAG>TAG		CD163 antigen isoform a							103.0	102.0	102.0					12																	7633838		2203	4300	6503	SO:0001587	stop_gained	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7633838C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3262G>T	12.37:g.7633838C>A	ENSP00000352071:p.Glu1088*					CD163_uc001qta.3_Nonsense_Mutation_p.E1088*|CD163_uc009zfw.2_Nonsense_Mutation_p.E1121*	p.E1088*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			15	3390	-			1088			Cytoplasmic (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	ENST00000359156.4	37	c.3262G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	39	7.336673	0.98221	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	4.61	1.47	0.22746	.	0.678069	0.13298	N	0.398431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	3.1895	0.06612	0.1653:0.4164:0.3221:0.0962	.	.	.	.	X	1088;1076;1121;1088	.	ENSP00000352071:E1088X	E	-	1	0	CD163	7525105	0.878000	0.30173	0.943000	0.38184	0.557000	0.35523	0.632000	0.24583	0.624000	0.30286	0.455000	0.32223	GAG		PASS	0.428	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		26	115	26	115	---	---	---	---
KLRF1	51348	broad.mit.edu	37	12	9985926	9985926	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:9985926A>G	ENST00000279544.3	+	3	276	c.212A>G	c.(211-213)cAa>cGa	p.Q71R	KLRF1_ENST00000537723.1_Missense_Mutation_p.Q71R|KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	71					cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)	p.Q71R(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						CTAAAATGCCAAAAAGGAAGT	0.358																																						uc010sgw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(211-213)CAA>CGA		killer cell lectin-like receptor subfamily F,							106.0	101.0	103.0					12																	9985926		1857	4095	5952	SO:0001583	missense	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9985926A>G	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.212A>G	12.37:g.9985926A>G	ENSP00000279544:p.Gln71Arg					KLRF1_uc009zgw.2_Intron|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_Intron|KLRF1_uc009zgz.2_Missense_Mutation_p.Q71R|KLRF1_uc009zha.2_Intron	p.Q71R	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN			3	276	+			71			Extracellular (Potential).		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	c.212A>G	CCDS41750.1	.	.	.	.	.	.	.	.	.	.	A	7.339	0.620604	0.14193	.	.	ENSG00000150045	ENST00000279544;ENST00000537723	T;T	0.53857	5.0;0.6	2.75	-5.46	0.02608	.	.	.	.	.	T	0.29945	0.0749	L	0.32530	0.975	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.13407	0.001;0.009	T	0.20638	-1.0269	8	.	.	.	.	0.9235	0.01320	0.2316:0.346:0.116:0.3064	.	71;71	Q9NZS2;Q4KN30	KLRF1_HUMAN;.	R	71	ENSP00000279544:Q71R;ENSP00000443054:Q71R	.	Q	+	2	0	KLRF1	9877193	0.043000	0.20138	0.027000	0.17364	0.189000	0.23516	-0.211000	0.09332	-1.208000	0.02634	-0.711000	0.03637	CAA		PASS	0.358	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		10	36	10	36	---	---	---	---
PRH1	5554	broad.mit.edu	37	12	11034868	11034868	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:11034868G>A	ENST00000428168.2	-	4	504	c.467C>T	c.(466-468)cCa>cTa	p.P156L	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	156						extracellular space (GO:0005615)		p.P156L(1)		endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		AGGTCCTTGTGGGCGGCCCCC	0.577																																						uc001qzc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)CCA>CTA		proline-rich protein HaeIII subfamily 1							65.0	76.0	72.0					12																	11034868		2202	4295	6497	SO:0001583	missense	5554					extracellular space	protein binding	g.chr12:11034868G>A			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.467C>T	12.37:g.11034868G>A	ENSP00000412436:p.Pro156Leu					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron	p.P156L	NM_006250	NP_006241	P02810	PRPC_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.245)	8	1055	-			156					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000428168.2	37	c.467C>T		.	.	.	.	.	.	.	.	.	.	G	5.832	0.337802	0.11013	.	.	ENSG00000231887	ENST00000428168	T	0.05319	3.46	0.805	-0.346	0.12620	.	.	.	.	.	T	0.06645	0.0170	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37174	-0.9717	6	0.54805	T	0.06	.	3.6891	0.08339	0.0:0.0:0.5688:0.4312	.	.	.	.	L	156	ENSP00000412436:P156L	ENSP00000412436:P156L	P	-	2	0	PRH1	10926135	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.489000	0.22387	-0.157000	0.11059	0.205000	0.17691	CCA		PASS	0.577	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		23	143	23	143	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716470	13716470	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:13716470C>T	ENST00000609686.1	-	13	3911	c.3702G>A	c.(3700-3702)tcG>tcA	p.S1234S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1234					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1234S(3)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGCCTGCCCGAGTTCTGAC	0.617																																						uc001rbt.2																			3	Substitution - coding silent(3)		lung(2)|upper_aerodigestive_tract(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3700-3702)TCG>TCA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						70.0	74.0	73.0					12																	13716470		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716470C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3702G>A	12.37:g.13716470C>T							p.S1234S	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3881	-			1234			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3702G>A	CCDS8662.1																																																																																				PASS	0.617	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	63	14	63	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20806910	20806910	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:20806910C>T	ENST00000359062.3	+	15	2995	c.2955C>T	c.(2953-2955)ccC>ccT	p.P985P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	985	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.P985P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TTGGATTACCCATAAGCCCCT	0.458																																						uc001reh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2953-2955)CCC>CCT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						74.0	71.0	72.0					12																	20806910		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20806910C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2955C>T	12.37:g.20806910C>T							p.P985P	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			15	2977	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	985			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2955C>T	CCDS31754.1																																																																																				PASS	0.458	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			21	95	21	95	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21392004	21392004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:21392004G>T	ENST00000256958.2	+	15	2053	c.1957G>T	c.(1957-1959)Gag>Tag	p.E653*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	653					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.E653*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AAAATATCAAGAGAAAGATAT	0.323																																						uc001req.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1957-1959)GAG>TAG		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						33.0	36.0	35.0					12																	21392004		2198	4296	6494	SO:0001587	stop_gained	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21392004G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1957G>T	12.37:g.21392004G>T	ENSP00000256958:p.Glu653*						p.E653*	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			15	2061	+			653			Cytoplasmic (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Nonsense_Mutation	SNP	ENST00000256958.2	37	c.1957G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766356	0.49574	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.17	2.25	0.28309	.	1.422770	0.04114	N	0.315239	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	5.5552	0.17113	0.1603:0.0:0.8397:0.0	.	.	.	.	X	653	.	ENSP00000256958:E653X	E	+	1	0	SLCO1B1	21283271	1.000000	0.71417	0.879000	0.34478	0.112000	0.19704	0.675000	0.25232	0.864000	0.35578	0.313000	0.20887	GAG		PASS	0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		5	43	5	43	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:31237922G>C	ENST00000407793.2	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000251758.5_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612										Multiple Myeloma(12;0.14)																												uc001rjt.1																			11	Substitution - Missense(11)		lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1)	breast(3)	3						c.(499-501)AGA>ACA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							18.0	20.0	19.0					12																	31237922		2203	4299	6502	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237922G>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.500G>C	12.37:g.31237922G>C	ENSP00000384703:p.Arg167Thr	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	p.R167T	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			5	751	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		167			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.500G>C	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.810541	0.00600	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.59224	4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17	3.87	0.233	0.15386	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.241085	0.41938	N	0.000785	T	0.18635	0.0447	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.12430	T	0.62	.	5.1988	0.15252	0.0:0.4995:0.1963:0.3042	.	167;167;167;167	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	167;167;167;141;138;141;167;167	ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T	ENSP00000228264:R141T	R	+	2	0	DDX11	31129189	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.680000	0.25306	-0.264000	0.09365	-1.993000	0.00448	AGA		PASS	0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		3	16	3	16	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	33021918	33021918	+	Silent	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:33021918A>G	ENST00000070846.6	-	4	1137	c.1113T>C	c.(1111-1113)tcT>tcC	p.S371S	PKP2_ENST00000340811.4_Silent_p.S371S	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	371					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.S371S(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TAGCTGCAGCAGAAATCCTGG	0.502																																						uc001rlj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1111-1113)TCT>TCC		plakophilin 2 isoform 2b							120.0	107.0	112.0					12																	33021918		2203	4300	6503	SO:0001819	synonymous_variant	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33021918A>G	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1113T>C	12.37:g.33021918A>G						PKP2_uc001rlk.3_Silent_p.S371S|PKP2_uc010skj.1_Silent_p.S371S	p.S371S	NM_004572	NP_004563	Q99959	PKP2_HUMAN			4	1228	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		371			ARM 1.		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	c.1113T>C	CCDS8731.1																																																																																				PASS	0.502	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		28	106	28	106	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40681156	40681156	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:40681156T>C	ENST00000298910.7	+	20	2562	c.2504T>C	c.(2503-2505)aTa>aCa	p.I835T	LRRK2_ENST00000343742.2_Missense_Mutation_p.I835T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	835					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.I835T(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)				TTTTCAGATATAGCATCTACA	0.373																																						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						c.(2503-2505)ATA>ACA		leucine-rich repeat kinase 2							70.0	65.0	67.0					12																	40681156		2203	4299	6502	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.chr12:40681156T>C	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.2504T>C	12.37:g.40681156T>C	ENSP00000298910:p.Ile835Thr					LRRK2_uc001rmh.1_Missense_Mutation_p.I457T	p.I835T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			20	2625	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	835					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2504T>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	3.049	-0.195865	0.06259	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.70164	2.39;-0.46	5.49	1.65	0.23941	.	0.533866	0.20952	N	0.082729	T	0.33294	0.0858	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09400	-1.0676	10	0.19590	T	0.45	.	2.9254	0.05783	0.1923:0.2826:0.0:0.5251	.	835;835	E9PC85;Q5S007	.;LRRK2_HUMAN	T	835	ENSP00000341930:I835T;ENSP00000298910:I835T	ENSP00000298910:I835T	I	+	2	0	LRRK2	38967423	0.997000	0.39634	0.350000	0.25708	0.312000	0.27988	0.705000	0.25675	0.928000	0.37168	0.397000	0.26171	ATA		PASS	0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		6	29	6	29	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41967358	41967358	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:41967358C>G	ENST00000402685.2	+	10	2785	c.2777C>G	c.(2776-2778)aCc>aGc	p.T926S	PDZRN4_ENST00000298919.7_Missense_Mutation_p.T666S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.T668S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	926							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T926S(1)|p.T668S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGTGGCATGACCACAGACGAT	0.552																																						uc010skn.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2179-2181)ACC>AGC		PDZ domain containing RING finger 4 isoform 2							95.0	88.0	90.0					12																	41967358		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967358C>G	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2777C>G	12.37:g.41967358C>G	ENSP00000384197:p.Thr926Ser					PDZRN4_uc001rmq.3_Missense_Mutation_p.T668S|PDZRN4_uc009zjz.2_Missense_Mutation_p.T666S|PDZRN4_uc001rmr.2_Missense_Mutation_p.T553S	p.T727S	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2248	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	926					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2180C>G	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331558	0.81690	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.41065	1.01;1.01;1.01	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.64997	1.995	0.80722	D	1	P;D;D	0.67145	0.699;0.996;0.996	P;D;D	0.77004	0.809;0.989;0.989	T	0.65651	-0.6116	10	0.87932	D	0	-34.2233	19.7189	0.96135	0.0:1.0:0.0:0.0	.	926;666;668	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	S	926;668;666	ENSP00000384197:T926S;ENSP00000439990:T668S;ENSP00000298919:T666S	ENSP00000298919:T666S	T	+	2	0	PDZRN4	40253625	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	7.776000	0.85560	2.834000	0.97654	0.650000	0.86243	ACC		PASS	0.552	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		17	43	17	43	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46244007	46244007	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:46244007A>T	ENST00000334344.6	+	15	2273	c.2101A>T	c.(2101-2103)Act>Tct	p.T701S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.T552S|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.T311S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	701					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.T701S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCTCCAGTGACTGTCATTCA	0.418			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(2101-2103)ACT>TCT		AT rich interactive domain 2 (ARID, RFX-like)							148.0	142.0	144.0					12																	46244007		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244007A>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2101A>T	12.37:g.46244007A>T	ENSP00000335044:p.Thr701Ser					ARID2_uc001ror.2_Missense_Mutation_p.T701S|ARID2_uc009zkg.1_Missense_Mutation_p.T157S|ARID2_uc009zkh.1_Missense_Mutation_p.T328S|ARID2_uc001rou.1_Missense_Mutation_p.T35S	p.T701S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2101	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	701					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.2101A>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873683	0.51695	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.33438	1.41	5.8	5.8	0.92144	.	0.242439	0.41097	D	0.000955	T	0.43344	0.1243	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.73380	0.98;0.98;0.97	T	0.19257	-1.0311	10	0.31617	T	0.26	-13.8935	16.1502	0.81611	1.0:0.0:0.0:0.0	.	701;311;701	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	S	701;552;311	ENSP00000335044:T701S	ENSP00000335044:T701S	T	+	1	0	ARID2	44530274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.187000	0.77730	2.224000	0.72417	0.533000	0.62120	ACT		PASS	0.418	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		32	124	32	124	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49723709	49723709	+	Missense_Mutation	SNP	C	C	A	rs181203315	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:49723709C>A	ENST00000257909.3	+	12	1310	c.1234C>A	c.(1234-1236)Ccg>Acg	p.P412T	TROAP_ENST00000547923.1_Missense_Mutation_p.P120T|TROAP_ENST00000551245.1_Missense_Mutation_p.P412T	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	412					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.P412T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGGAAACCACCGGTGGCCAC	0.537																																						uc001rtx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1234-1236)CCG>ACG		tastin isoform 1							97.0	97.0	97.0					12																	49723709		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49723709C>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1234C>A	12.37:g.49723709C>A	ENSP00000257909:p.Pro412Thr					TROAP_uc009zlh.2_Missense_Mutation_p.P412T|TROAP_uc001rty.2_Missense_Mutation_p.P120T	p.P412T	NM_005480	NP_005471	Q12815	TROAP_HUMAN			12	1401	+			412					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1234C>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174603	0.57692	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.45	-3.49	0.04724	.	0.746537	0.12318	N	0.479581	T	0.25901	0.0631	L	0.43923	1.385	0.09310	N	1	B;B;B	0.24258	0.1;0.037;0.017	B;B;B	0.20955	0.032;0.018;0.007	T	0.22836	-1.0205	9	0.56958	D	0.05	-0.1657	1.5374	0.02548	0.1185:0.3088:0.2342:0.3385	.	412;120;412	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	T	412;412;120	.	ENSP00000257909:P412T	P	+	1	0	TROAP	48009976	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.123000	0.03263	-0.559000	0.06110	-0.258000	0.10820	CCG		PASS	0.537	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		28	119	28	119	---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54379715	54379715	+	Silent	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:54379715A>G	ENST00000303460.4	+	1	746	c.672A>G	c.(670-672)aaA>aaG	p.K224K	HOXC-AS3_ENST00000567780.1_RNA|RP11-834C11.12_ENST00000513209.1_Silent_p.K29K|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	224					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K224K(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CGGGCCCTAAAGGGAGCCCCT	0.637																																						uc001sen.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(670-672)AAA>AAG		homeobox C10							20.0	24.0	23.0					12																	54379715		2203	4297	6500	SO:0001819	synonymous_variant	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379715A>G		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.672A>G	12.37:g.54379715A>G							p.K224K	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN			1	770	+			224					O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	37	c.672A>G	CCDS8868.1																																																																																				PASS	0.637	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			8	28	8	28	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56489049	56489049	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:56489049G>A	ENST00000267101.3	+	16	2308	c.1868G>A	c.(1867-1869)gGa>gAa	p.G623E	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.G564E|ERBB3_ENST00000450146.2_5'UTR	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	623					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.G623E(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGGTGTAAAGGACCAGAGCTT	0.448																																						uc001sjh.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(1867-1869)GGA>GAA		erbB-3 isoform 1 precursor							150.0	136.0	141.0					12																	56489049		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56489049G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1868G>A	12.37:g.56489049G>A	ENSP00000267101:p.Gly623Glu					ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_5'UTR|ERBB3_uc010sqc.1_Missense_Mutation_p.G564E|ERBB3_uc009zok.2_Missense_Mutation_p.G65E|ERBB3_uc001sjk.2_5'Flank	p.G623E	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		16	2061	+			623			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.1868G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184995	0.38609	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	D;D	0.87256	-2.23;-2.23	5.34	4.45	0.53987	Growth factor, receptor (1);	0.000000	0.64402	D	0.000005	D	0.93468	0.7916	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.984;0.999	D	0.94029	0.7299	10	0.87932	D	0	.	11.4156	0.49949	0.0844:0.0:0.9156:0.0	.	564;623	P21860-4;P21860	.;ERBB3_HUMAN	E	623;564	ENSP00000267101:G623E;ENSP00000408340:G564E	ENSP00000267101:G623E	G	+	2	0	ERBB3	54775316	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	4.929000	0.63455	1.488000	0.48433	0.655000	0.94253	GGA		PASS	0.448	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			18	81	18	81	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57884426	57884426	+	Splice_Site	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:57884426G>A	ENST00000262027.5	+	7	903	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	ARHGAP9_ENST00000393797.2_5'Flank|MARS_ENST00000315473.5_Splice_Site_p.V23M|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000550288.1_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	257					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.V257M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCAGAATCCAGTGTGAGTAGA	0.532																																						uc001sog.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(769-771)GTG>ATG		methionyl-tRNA synthetase	L-Methionine(DB00134)						59.0	65.0	63.0					12																	57884426		2203	4300	6503	SO:0001630	splice_region_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57884426G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.770+1G>A	12.37:g.57884426G>A						ARHGAP9_uc001sod.2_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_RNA|MARS_uc010srp.1_Missense_Mutation_p.V130M|MARS_uc010srq.1_Missense_Mutation_p.V23M	p.V257M	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		7	792	+			257					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.769G>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633877	0.67130	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.46063	1.42;0.88	4.64	4.64	0.57946	.	0.076948	0.52532	D	0.000062	T	0.48714	0.1515	L	0.43152	1.355	0.49483	D	0.999794	P;P;P	0.52692	0.834;0.93;0.955	P;P;P	0.54460	0.635;0.753;0.701	T	0.51679	-0.8675	10	0.87932	D	0	-13.2985	13.3727	0.60721	0.0:0.0:1.0:0.0	.	23;130;257	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	M	257;23	ENSP00000262027:V257M;ENSP00000314653:V23M	ENSP00000262027:V257M	V	+	1	0	MARS	56170693	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.218000	0.58554	2.288000	0.76882	0.407000	0.27541	GTG		PASS	0.532	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	Missense_Mutation	17	71	17	71	---	---	---	---
SLC16A7	9194	broad.mit.edu	37	12	60168512	60168512	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:60168512G>T	ENST00000261187.4	+	4	600	c.436G>T	c.(436-438)Gca>Tca	p.A146S	SLC16A7_ENST00000552024.1_Missense_Mutation_p.A146S|SLC16A7_ENST00000547379.1_Missense_Mutation_p.A146S|SLC16A7_ENST00000543448.1_Missense_Mutation_p.A47S|SLC16A7_ENST00000552432.1_Missense_Mutation_p.A146S	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	146					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.A146S(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	GCGACCCATGGCAAATGGATT	0.418																																						uc001sqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)GCA>TCA		solute carrier family 16, member 7	Pyruvic acid(DB00119)						75.0	74.0	75.0					12																	60168512		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168512G>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.436G>T	12.37:g.60168512G>T	ENSP00000261187:p.Ala146Ser					SLC16A7_uc001sqt.2_Missense_Mutation_p.A146S|SLC16A7_uc001squ.2_Missense_Mutation_p.A146S|SLC16A7_uc009zqi.2_Missense_Mutation_p.A47S|SLC16A7_uc010ssi.1_Missense_Mutation_p.A47S	p.A146S	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	735	+			146			Cytoplasmic (Potential).		Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.436G>T	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707367	0.89018	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448;ENST00000548444	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85130	0.0974	9	.	.	.	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	146	O60669	MOT2_HUMAN	S	146;146;146;146;146;47;31	ENSP00000449547:A146S;ENSP00000448071:A146S;ENSP00000448742:A146S;ENSP00000446722:A146S;ENSP00000261187:A146S;ENSP00000443731:A47S;ENSP00000447814:A31S	.	A	+	1	0	SLC16A7	58454779	1.000000	0.71417	0.740000	0.30986	0.645000	0.38454	9.869000	0.99810	2.775000	0.95449	0.650000	0.86243	GCA		PASS	0.418	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		18	77	18	77	---	---	---	---
RAB3IP	117177	broad.mit.edu	37	12	70194074	70194074	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:70194074A>T	ENST00000247833.7	+	7	1350	c.974A>T	c.(973-975)tAc>tTc	p.Y325F	RAB3IP_ENST00000483530.2_Missense_Mutation_p.Y325F|RAB3IP_ENST00000362025.5_Missense_Mutation_p.Y341F|RAB3IP_ENST00000550536.1_Missense_Mutation_p.Y341F|AC025263.3_ENST00000550437.1_5'Flank|RAB3IP_ENST00000325555.9_Missense_Mutation_p.Y119F|RAB3IP_ENST00000551641.1_Missense_Mutation_p.Y119F|RAB3IP_ENST00000550847.1_Missense_Mutation_p.Y32F|RAB3IP_ENST00000553099.1_Missense_Mutation_p.Y119F					RAB3A interacting protein									p.Y341F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GACAAAATCTACCAGGAAGAT	0.343																																						uc001svp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)TAC>TTC		RAB3A interacting protein isoform alpha 2							103.0	94.0	97.0					12																	70194074		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70194074A>T		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.974A>T	12.37:g.70194074A>T	ENSP00000247833:p.Tyr325Phe					RAB3IP_uc001svm.2_Missense_Mutation_p.Y325F|RAB3IP_uc001svn.2_Missense_Mutation_p.Y325F|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.Y341F|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.Y119F	p.Y341F	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		7	1469	+	Esophageal squamous(21;0.187)		341						Missense_Mutation	SNP	ENST00000247833.7	37	c.1022A>T	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.135575|4.135575	0.77662|0.77662	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000526994|ENST00000247833;ENST00000483530;ENST00000325555;ENST00000550536;ENST00000362025;ENST00000551641;ENST00000553099;ENST00000550847	.|T;T;T;T;T;T;T;T	.|0.48836	.|0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66005|0.66005	0.2746|0.2746	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.959;0.997;0.959	.|P;D;P	.|0.70716	.|0.835;0.97;0.835	T|T	0.64580|0.64580	-0.6374|-0.6374	5|10	.|0.30854	.|T	.|0.27	.|.	15.3613|15.3613	0.74478|0.74478	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|341;341;325	.|Q96QF0-4;Q96QF0;Q96QF0-3	.|.;RAB3I_HUMAN;.	S|F	57|325;325;119;341;341;119;119;32	.|ENSP00000247833:Y325F;ENSP00000419216:Y325F;ENSP00000323349:Y119F;ENSP00000447300:Y341F;ENSP00000355381:Y341F;ENSP00000448773:Y119F;ENSP00000448027:Y119F;ENSP00000448102:Y32F	.|ENSP00000247833:Y325F	T|Y	+|+	1|2	0|0	RAB3IP|RAB3IP	68480341|68480341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	8.735000|8.735000	0.91549|0.91549	2.038000|2.038000	0.60285|0.60285	0.254000|0.254000	0.18369|0.18369	ACC|TAC		PASS	0.343	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		8	44	8	44	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78444913	78444913	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:78444913T>A	ENST00000397909.2	+	11	2675	c.2502T>A	c.(2500-2502)gaT>gaA	p.D834E	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.D834E|NAV3_ENST00000266692.7_Missense_Mutation_p.D834E|NAV3_ENST00000536525.2_Missense_Mutation_p.D834E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	834						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.D834E(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAGGACTGATGACATCAACA	0.443										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2500-2502)GAT>GAA		neuron navigator 3							69.0	68.0	68.0					12																	78444913		2040	4213	6253	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444913T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2502T>A	12.37:g.78444913T>A	ENSP00000381007:p.Asp834Glu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.D834E|NAV3_uc010sub.1_Missense_Mutation_p.D334E	p.D834E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2675	+			834					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2502T>A		.	.	.	.	.	.	.	.	.	.	T	18.33	3.600916	0.66332	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.44482	1.07;1.06;1.08;0.92	5.79	2.11	0.27256	.	0.000000	0.41396	U	0.000892	T	0.30386	0.0763	L	0.39898	1.24	0.80722	D	1	B;B;P	0.46784	0.25;0.296;0.884	B;B;B	0.39152	0.061;0.027;0.292	T	0.02893	-1.1097	10	0.46703	T	0.11	-22.785	9.5556	0.39337	0.0:0.2009:0.0:0.7991	.	834;834;834	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	E	834	ENSP00000446132:D834E;ENSP00000381007:D834E;ENSP00000228327:D834E;ENSP00000266692:D834E	ENSP00000228327:D834E	D	+	3	2	NAV3	76969044	0.998000	0.40836	0.992000	0.48379	0.986000	0.74619	0.361000	0.20267	0.115000	0.18071	-0.250000	0.11733	GAT		PASS	0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		27	111	27	111	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78582517	78582517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:78582517C>A	ENST00000397909.2	+	33	6188	c.6015C>A	c.(6013-6015)taC>taA	p.Y2005*	NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y1983*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1806*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y1983*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2005						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.Y1983*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTGTGGATACCTTGTTGGAG	0.388										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6013-6015)TAC>TAA		neuron navigator 3							112.0	106.0	108.0					12																	78582517		1903	4113	6016	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78582517C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6015C>A	12.37:g.78582517C>A	ENSP00000381007:p.Tyr2005*	HNSCC(70;0.22)				NAV3_uc001syo.2_Nonsense_Mutation_p.Y1983*|NAV3_uc010sub.1_Nonsense_Mutation_p.Y1462*|NAV3_uc009zsf.2_Nonsense_Mutation_p.Y814*	p.Y2005*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			33	6188	+			2005					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.6015C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.035158|13.035158	0.99715|0.99715	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|.	.|.	.|.	5.95|5.95	1.71|1.71	0.24356|0.24356	.|.	.|0.000000	.|0.36703	.|U	.|0.002457	T|.	0.28300|.	0.0699|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17715|.	-1.0360|.	4|.	.|0.02654	.|T	.|1	-5.9661|-5.9661	8.4675|8.4675	0.32964|0.32964	0.0:0.2198:0.0:0.7802|0.0:0.2198:0.0:0.7802	.|.	.|.	.|.	.|.	T|X	878|1983;2005;1983;1806;597;605	.|.	.|ENSP00000228327:Y1983X	P|Y	+|+	1|3	0|2	NAV3|NAV3	77106648|77106648	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.148000|1.148000	0.31614|0.31614	0.084000|0.084000	0.17077|0.17077	0.655000|0.655000	0.94253|0.94253	CCT|TAC		PASS	0.388	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	103	19	103	---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95668562	95668562	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:95668562G>A	ENST00000436874.1	+	7	998	c.893G>A	c.(892-894)tGt>tAt	p.C298Y	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.C250Y|Y_RNA_ENST00000365600.1_RNA	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	298					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.C298Y(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AACTACATCTGTGTGGTGCCT	0.423																																						uc001tdz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(892-894)TGT>TAT		vezatin, adherens junctions transmembrane							134.0	128.0	130.0					12																	95668562		1893	4108	6001	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95668562G>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.893G>A	12.37:g.95668562G>A	ENSP00000410083:p.Cys298Tyr					VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Translation_Start_Site|VEZT_uc001tdy.2_RNA	p.C298Y	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			7	998	+			298					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.893G>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918427	0.73098	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.42900	0.96;0.96;0.96	5.53	5.53	0.82687	.	0.096622	0.85682	D	0.000000	T	0.62684	0.2448	L	0.60455	1.87	0.50171	D	0.999854	D	0.76494	0.999	D	0.77004	0.989	T	0.59257	-0.7488	10	0.41790	T	0.15	-31.5382	19.4537	0.94878	0.0:0.0:1.0:0.0	.	298	Q9HBM0	VEZA_HUMAN	Y	298;250;254;298	ENSP00000410083:C298Y;ENSP00000261219:C250Y;ENSP00000380894:C254Y	ENSP00000261219:C250Y	C	+	2	0	VEZT	94192693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.296000	0.65698	2.598000	0.87819	0.591000	0.81541	TGT		PASS	0.423	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		38	146	38	146	---	---	---	---
CDK17	5128	broad.mit.edu	37	12	96728577	96728577	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:96728577C>A	ENST00000261211.3	-	2	641	c.38G>T	c.(37-39)cGa>cTa	p.R13L	CDK17_ENST00000543119.2_Missense_Mutation_p.R13L|CDK17_ENST00000542666.1_Intron	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	13					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.R13L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CTGACTTCCTCGGAGTGTGAG	0.353																																						uc001tep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.(37-39)CGA>CTA		PCTAIRE protein kinase 2							128.0	123.0	124.0					12																	96728577		2203	4300	6503	SO:0001583	missense	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96728577C>A		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.38G>T	12.37:g.96728577C>A	ENSP00000261211:p.Arg13Leu					CDK17_uc009ztk.2_Missense_Mutation_p.R13L|CDK17_uc010svb.1_Intron	p.R13L	NM_002595	NP_002586	Q00537	CDK17_HUMAN			2	527	-			13					A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.38G>T	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901697	0.92035	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000551816;ENST00000552496;ENST00000548734;ENST00000552262	T;T;T;T;T	0.74209	-0.8;-0.82;0.58;0.57;0.16	5.64	5.64	0.86602	.	0.055041	0.64402	D	0.000001	D	0.82467	0.5043	M	0.66939	2.045	0.80722	D	1	P;P	0.51653	0.865;0.947	P;P	0.54664	0.541;0.758	T	0.81491	-0.0909	10	0.42905	T	0.14	-8.2399	19.6932	0.96010	0.0:1.0:0.0:0.0	.	13;13	A8K1U6;Q00537	.;CDK17_HUMAN	L	13;13;13;13;33;13	ENSP00000261211:R13L;ENSP00000444459:R13L;ENSP00000450058:R13L;ENSP00000447282:R13L;ENSP00000447441:R33L	ENSP00000261211:R13L	R	-	2	0	CDK17	95252708	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.138000	0.77305	2.664000	0.90586	0.655000	0.94253	CGA		PASS	0.353	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		7	35	7	35	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104171830	104171830	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr12:104171830T>C	ENST00000392876.3	-	14	1464	c.1424A>G	c.(1423-1425)cAg>cGg	p.Q475R		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	475						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q400R(1)|p.Q475R(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GCTTCCAAACTGGGCATTGAA	0.458																																						uc010swe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1423-1425)CAG>CGG		5'-nucleotidase domain containing 3							77.0	78.0	77.0					12																	104171830		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104171830T>C	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1424A>G	12.37:g.104171830T>C	ENSP00000376615:p.Gln475Arg					NT5DC3_uc010swd.1_5'Flank	p.Q475R	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			14	1465	-			475					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.1424A>G	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.713253	0.30413	.	.	ENSG00000111696	ENST00000392876	T	0.22743	1.94	5.8	4.64	0.57946	HAD-like domain (1);	0.054903	0.85682	D	0.000000	T	0.23014	0.0556	L	0.54323	1.7	0.58432	D	0.999994	B	0.25105	0.118	B	0.27715	0.082	T	0.01961	-1.1239	10	0.39692	T	0.17	-28.382	13.1048	0.59241	0.0:0.0:0.134:0.866	.	475	Q86UY8	NT5D3_HUMAN	R	475	ENSP00000376615:Q475R	ENSP00000376615:Q475R	Q	-	2	0	NT5DC3	102695960	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	7.655000	0.83696	1.001000	0.39076	-0.313000	0.08912	CAG		PASS	0.458	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		14	68	14	68	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29005411	29005411	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr13:29005411G>T	ENST00000282397.4	-	7	1101	c.850C>A	c.(850-852)Caa>Aaa	p.Q284K	FLT1_ENST00000541932.1_Missense_Mutation_p.Q284K|FLT1_ENST00000539099.1_Missense_Mutation_p.Q284K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	284	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|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 MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|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 receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.Q284K(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAATTGCTTTGGTCAATTCGT	0.363																																						uc001usb.3																			2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(850-852)CAA>AAA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						163.0	143.0	150.0					13																	29005411		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29005411G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.850C>A	13.37:g.29005411G>T	ENSP00000282397:p.Gln284Lys					FLT1_uc010aar.1_Missense_Mutation_p.Q284K|FLT1_uc001usc.3_Missense_Mutation_p.Q284K|FLT1_uc010tdp.1_Missense_Mutation_p.Q284K	p.Q284K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	7	1135	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	284			Extracellular (Potential).|Ig-like C2-type 3.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.850C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	9.866	1.197512	0.22037	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.12984	2.63;2.63;2.63	5.54	1.67	0.24075	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);Immunoglobulin-like fold (1);	1.024750	0.07737	N	0.946278	T	0.08313	0.0207	N	0.21508	0.67	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.003;0.001;0.005	T	0.44390	-0.9331	10	0.11794	T	0.64	.	5.408	0.16332	0.065:0.2246:0.4795:0.2308	.	284;284;284;284	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	K	284	ENSP00000282397:Q284K;ENSP00000437631:Q284K;ENSP00000442630:Q284K	ENSP00000282397:Q284K	Q	-	1	0	FLT1	27903411	0.002000	0.14202	0.026000	0.17262	0.112000	0.19704	0.091000	0.15046	0.332000	0.23536	0.585000	0.79938	CAA		PASS	0.363	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			23	51	23	51	---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99092415	99092415	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr13:99092415A>G	ENST00000319562.6	+	23	2820	c.2555A>G	c.(2554-2556)cAg>cGg	p.Q852R	FARP1_ENST00000595437.1_Missense_Mutation_p.Q883R|FARP1_ENST00000376586.2_Missense_Mutation_p.Q883R	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	852	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q883R(1)|p.Q852R(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAGGACATCCAGATGGCCATT	0.612																																						uc001vnj.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(2554-2556)CAG>CGG		FERM, RhoGEF, and pleckstrin domain protein 1							138.0	144.0	142.0					13																	99092415		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99092415A>G	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2555A>G	13.37:g.99092415A>G	ENSP00000322926:p.Gln852Arg					FARP1_uc001vnh.2_Missense_Mutation_p.Q883R	p.Q852R	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		23	2891	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		852			PH 1.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2555A>G	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.595047	0.28445	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.76186	-1.0;-1.0	4.93	2.48	0.30137	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.288332	0.35013	N	0.003510	T	0.64538	0.2607	N	0.08118	0	0.38699	D	0.952946	D;B	0.54047	0.964;0.004	P;B	0.57204	0.815;0.005	T	0.63739	-0.6569	10	0.37606	T	0.19	.	8.914	0.35570	0.8474:0.0:0.1526:0.0	.	852;883	Q9Y4F1;C9JME2	FARP1_HUMAN;.	R	883;852	ENSP00000365771:Q883R;ENSP00000322926:Q852R	ENSP00000322926:Q852R	Q	+	2	0	FARP1	97890416	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.418000	0.44662	0.253000	0.21552	0.459000	0.35465	CAG		PASS	0.612	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		38	120	38	120	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19377657	19377657	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:19377657G>T	ENST00000550708.1	+	1	136	c.64G>T	c.(64-66)Gct>Tct	p.A22S		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A22S(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCAGCTTTGCTTTTGTAAA	0.383																																						uc010tkp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(64-66)GCT>TCT		olfactory receptor, family 11, subfamily H,							17.0	18.0	18.0					14																	19377657		2189	4272	6461	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377657G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.64G>T	14.37:g.19377657G>T	ENSP00000449002:p.Ala22Ser						p.A22S	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	64	+	all_cancers(95;0.00108)		22			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000550708.1	37	c.64G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.622788	0.00820	.	.	ENSG00000257115	ENST00000550708	T	0.00526	6.8	.	.	.	.	0.479179	0.15500	U	0.259081	T	0.00109	0.0003	N	0.00175	-1.925	0.22541	N	0.999003	B	0.02656	0.0	B	0.04013	0.001	T	0.12142	-1.0559	8	0.07175	T	0.84	.	6.4784	0.22049	2.0E-4:0.0:0.9998:0.0	.	22	B2RN74	O11HC_HUMAN	S	22	ENSP00000449002:A22S	ENSP00000449002:A22S	A	+	1	0	CR383656.1	18447657	0.001000	0.12720	0.655000	0.29622	0.216000	0.24613	0.135000	0.15952	0.413000	0.25759	0.064000	0.15345	GCT		PASS	0.383	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		22	100	22	100	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389730	20389730	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:20389730T>A	ENST00000315915.4	+	1	990	c.965T>A	c.(964-966)tTt>tAt	p.F322Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F322Y(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAACTTCCTTTCATTAAGAC	0.368																																						uc010tkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(964-966)TTT>TAT		olfactory receptor, family 4, subfamily K,							62.0	70.0	67.0					14																	20389730		2175	4285	6460	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389730T>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.965T>A	14.37:g.20389730T>A	ENSP00000319511:p.Phe322Tyr						p.F322Y	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	965	+	all_cancers(95;0.00108)		322			Cytoplasmic (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.965T>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	3.948	-0.012906	0.07727	.	.	ENSG00000176281	ENST00000315915	T	0.05025	3.51	3.86	3.86	0.44501	.	1.111820	0.07080	N	0.836870	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.29088	-1.0023	10	0.66056	D	0.02	.	9.2154	0.37344	0.0:0.0:0.0:1.0	.	322	Q8NGD3	OR4K5_HUMAN	Y	322	ENSP00000319511:F322Y	ENSP00000319511:F322Y	F	+	2	0	OR4K5	19459570	0.002000	0.14202	0.013000	0.15412	0.005000	0.04900	1.260000	0.32968	1.742000	0.51746	0.528000	0.53228	TTT		PASS	0.368	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		18	107	18	107	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23887604	23887604	+	Silent	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:23887604G>C	ENST00000355349.3	-	30	4146	c.3984C>G	c.(3982-3984)gcC>gcG	p.A1328A	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1328					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.A1328A(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGTGGGCCAGGGCGTTCTTCG	0.642																																						uc001wjx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(3982-3984)GCC>GCG		myosin, heavy chain 7, cardiac muscle, beta							28.0	28.0	28.0					14																	23887604		2201	4300	6501	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887604G>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3984C>G	14.37:g.23887604G>C						MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.A1328A	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4090	-	all_cancers(95;2.54e-05)		1328			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.3984C>G	CCDS9601.1																																																																																				PASS	0.642	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	45	7	45	---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724724	38724724	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:38724724G>A	ENST00000342213.2	-	1	850	c.504C>T	c.(502-504)ggC>ggT	p.G168G		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G168G(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGCACAGGTAGCCGTTGGCGC	0.682																																						uc001wum.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(502-504)GGC>GGT		C-type lectin domain family 14, member A							45.0	40.0	42.0					14																	38724724		2200	4289	6489	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724724G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.504C>T	14.37:g.38724724G>A							p.G168G	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	851	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		168			Extracellular (Potential).|C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.504C>T	CCDS9667.1																																																																																				PASS	0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		10	67	10	67	---	---	---	---
PELI2	57161	broad.mit.edu	37	14	56757046	56757046	+	Missense_Mutation	SNP	G	G	A	rs137897340	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:56757046G>A	ENST00000267460.4	+	5	854	c.568G>A	c.(568-570)Gtc>Atc	p.V190I		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	190	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.V190I(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TACTAATGGCGTCCTGGTGAT	0.547																																						uc001xch.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)GTC>ATC		pellino 2		G	ILE/VAL	0,4406		0,0,2203	93.0	99.0	97.0		568	5.5	1.0	14	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PELI2	NM_021255.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	190/421	56757046	3,13003	2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56757046G>A	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.568G>A	14.37:g.56757046G>A	ENSP00000267460:p.Val190Ile						p.V190I	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			5	854	+			190					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.568G>A	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381490	0.61845	0.0	3.49E-4	ENSG00000139946	ENST00000267460	T	0.53423	0.62	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	M	0.64630	1.985	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.64984	-0.6278	10	0.41790	T	0.15	-33.1365	19.4226	0.94727	0.0:0.0:1.0:0.0	.	190	Q9HAT8	PELI2_HUMAN	I	190	ENSP00000267460:V190I	ENSP00000267460:V190I	V	+	1	0	PELI2	55826799	1.000000	0.71417	0.953000	0.39169	0.171000	0.22731	9.869000	0.99810	2.598000	0.87819	0.561000	0.74099	GTC		PASS	0.547	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			25	131	25	131	---	---	---	---
AP5M1	55745	broad.mit.edu	37	14	57746974	57746974	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:57746974C>G	ENST00000261558.3	+	3	1188	c.782C>G	c.(781-783)tCt>tGt	p.S261C	AP5M1_ENST00000431972.2_Missense_Mutation_p.S275C|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	261	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)		p.S261C(1)									ACCAATGGATCTCCACTTCAG	0.398																																						uc001xcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(781-783)TCT>TGT		Mu-2 related death-inducing protein							314.0	285.0	295.0					14																	57746974		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57746974C>G	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.782C>G	14.37:g.57746974C>G	ENSP00000261558:p.Ser261Cys					MUDENG_uc010tri.1_Missense_Mutation_p.S15C|MUDENG_uc010trj.1_Missense_Mutation_p.S158C	p.S261C	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			3	1209	+			261			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.782C>G	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951384	0.92660	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.21191	2.02;2.02	6.03	6.03	0.97812	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.35226	-0.9797	10	0.59425	D	0.04	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	261	Q9H0R1	MUDEN_HUMAN	C	261;275	ENSP00000261558:S261C;ENSP00000390531:S275C	ENSP00000261558:S261C	S	+	2	0	MUDENG	56816727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.861000	0.98227	0.655000	0.94253	TCT		PASS	0.398	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		38	244	38	244	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58606016	58606016	+	Missense_Mutation	SNP	C	C	A	rs147297953		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:58606016C>A	ENST00000267485.7	-	2	255	c.61G>T	c.(61-63)Gtt>Ttt	p.V21F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	21						integral component of membrane (GO:0016021)		p.V21F(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGTGTGGCAACGCTGAAAAGC	0.473																																						uc001xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GTT>TTT		hypothetical protein LOC145407 precursor							107.0	108.0	108.0					14																	58606016		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58606016C>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.61G>T	14.37:g.58606016C>A	ENSP00000267485:p.Val21Phe					C14orf37_uc010tro.1_Missense_Mutation_p.V59F|C14orf37_uc001xdd.2_Missense_Mutation_p.V21F|C14orf37_uc001xde.2_Missense_Mutation_p.V21F	p.V21F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	172	-			21					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.61G>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	3.205	-0.162941	0.06502	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.30714	1.52	5.28	-6.28	0.02020	.	1.060040	0.07307	N	0.875169	T	0.10551	0.0258	N	0.02802	-0.49	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.32666	-0.9898	10	0.25751	T	0.34	0.5014	7.2745	0.26275	0.2377:0.3376:0.0:0.4248	.	59;21;21;21	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	F	21;59	ENSP00000267485:V21F	ENSP00000267485:V21F	V	-	1	0	C14orf37	57675769	0.001000	0.12720	0.000000	0.03702	0.047000	0.14425	-0.218000	0.09240	-1.596000	0.01611	-2.276000	0.00273	GTT		PASS	0.473	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		28	127	28	127	---	---	---	---
EIF2S1	1965	broad.mit.edu	37	14	67831577	67831577	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:67831577G>A	ENST00000256383.4	+	2	554	c.93G>A	c.(91-93)ggG>ggA	p.G31G	EIF2S1_ENST00000466499.2_Silent_p.G31G	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	31	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.G31G(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		CTGAAATGGGGGCTTATGTCA	0.408																																						uc001xjg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(91-93)GGG>GGA		eukaryotic translation initiation factor 2,							179.0	165.0	170.0					14																	67831577		2203	4300	6503	SO:0001819	synonymous_variant	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67831577G>A	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.93G>A	14.37:g.67831577G>A							p.G31G	NM_004094	NP_004085	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	2	234	+			31			S1 motif.			Silent	SNP	ENST00000256383.4	37	c.93G>A	CCDS9781.1																																																																																				PASS	0.408	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		31	132	31	132	---	---	---	---
COX16	51241	broad.mit.edu	37	14	70826258	70826258	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:70826258A>T	ENST00000389912.6	-	1	190	c.47T>A	c.(46-48)cTc>cAc	p.L16H	SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR|RNU2-51P_ENST00000410708.1_RNA	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	16						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)		p.L16H(1)		large_intestine(1)|lung(2)	3						TCCATAGCCGAGAGTCTTGTT	0.577																																						uc001xmb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)CTC>CAC		COX16 cytochrome c oxidase assembly homolog							89.0	75.0	80.0					14																	70826258		2203	4300	6503	SO:0001583	missense	51241					integral to membrane|mitochondrial membrane		g.chr14:70826258A>T	AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.47T>A	14.37:g.70826258A>T	ENSP00000374562:p.Leu16His						p.L16H	NM_016468	NP_057552	Q9P0S2	COX16_HUMAN			1	187	-			16			Helical; (Potential).		A6NDT5|A8K3X8	Missense_Mutation	SNP	ENST00000389912.6	37	c.47T>A	CCDS9802.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698759	0.30142	.	.	ENSG00000133983	ENST00000389912	.	.	.	5.32	5.32	0.75619	.	0.918548	0.08912	U	0.875698	T	0.70971	0.3285	L	0.55481	1.735	0.34959	D	0.752049	D	0.76494	0.999	D	0.64237	0.923	T	0.71119	-0.4685	9	0.87932	D	0	3.3781	11.8732	0.52531	1.0:0.0:0.0:0.0	.	16	Q9P0S2	COX16_HUMAN	H	16	.	ENSP00000374562:L16H	L	-	2	0	COX16	69896011	0.969000	0.33509	0.975000	0.42487	0.025000	0.11179	3.397000	0.52572	2.371000	0.80710	0.533000	0.62120	CTC		PASS	0.577	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2	NM_016468		10	43	10	43	---	---	---	---
DCAF4	26094	broad.mit.edu	37	14	73406560	73406560	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:73406560A>G	ENST00000358377.2	+	3	363	c.143A>G	c.(142-144)gAc>gGc	p.D48G	DCAF4_ENST00000509153.1_Missense_Mutation_p.D48G|DCAF4_ENST00000353777.3_Missense_Mutation_p.D48G|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000555042.1_Missense_Mutation_p.D48G	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	48					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.D48G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CACGGTGATGACGAGTCTCCG	0.617																																						uc001xng.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(142-144)GAC>GGC		DDB1 and CUL4 associated factor 4 isoform 1							39.0	33.0	35.0					14																	73406560		2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73406560A>G	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.143A>G	14.37:g.73406560A>G	ENSP00000351147:p.Asp48Gly					DCAF4_uc001xnj.2_Missense_Mutation_p.D48G|DCAF4_uc010ttr.1_Missense_Mutation_p.T37A|DCAF4_uc001xnh.2_5'UTR|DCAF4_uc010tts.1_Missense_Mutation_p.D48G|DCAF4_uc010ttt.1_5'UTR|DCAF4_uc001xni.2_Missense_Mutation_p.D48G|DCAF4_uc001xnk.2_Missense_Mutation_p.D48G	p.D48G	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN			3	363	+			48					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.143A>G	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	A	9.226	1.034660	0.19590	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000509153;ENST00000555042	T;T;T;T	0.67171	0.55;-0.25;0.56;0.16	5.01	-9.12	0.00707	.	1.420100	0.03540	N	0.223829	T	0.43277	0.1240	N	0.16478	0.41	0.09310	N	0.999995	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.001	B;B;B;B;B	0.09377	0.0;0.004;0.001;0.0;0.002	T	0.35525	-0.9785	10	0.72032	D	0.01	.	4.4168	0.11461	0.1605:0.3503:0.3842:0.105	.	48;48;48;48;48	B4DUT6;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;DCAF4_HUMAN	G	48	ENSP00000351147:D48G;ENSP00000345176:D48G;ENSP00000426178:D48G;ENSP00000452131:D48G	ENSP00000345176:D48G	D	+	2	0	DCAF4	72476313	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.585000	0.05794	-1.493000	0.01835	-0.250000	0.11733	GAC		PASS	0.617	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		6	16	6	16	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93685054	93685054	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:93685054C>T	ENST00000013070.6	+	7	1019	c.783C>T	c.(781-783)gcC>gcT	p.A261A	UBR7_ENST00000416753.1_Silent_p.A185A	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	261							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A261A(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AACCATGTGCCGGCTCTAGTT	0.498																																						uc001ybm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(781-783)GCC>GCT		ubiquitin protein ligase E3 component n-recognin							74.0	74.0	74.0					14																	93685054		2203	4300	6503	SO:0001819	synonymous_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93685054C>T	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.783C>T	14.37:g.93685054C>T						UBR7_uc001ybn.3_Silent_p.A185A|UBR7_uc010auq.2_Silent_p.A110A	p.A261A	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			7	1019	+			261					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	c.783C>T	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	C	8.196	0.797011	0.16327	.	.	ENSG00000012963	ENST00000555329	.	.	.	6.07	0.98	0.19750	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46470	-0.9189	4	.	.	.	-2.6279	7.3531	0.26703	0.1177:0.6234:0.0:0.2589	.	.	.	.	W	10	.	.	R	+	1	2	UBR7	92754807	0.993000	0.37304	0.648000	0.29521	0.681000	0.39784	0.530000	0.23036	0.456000	0.26937	-1.735000	0.00691	CGG		PASS	0.498	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		18	66	18	66	---	---	---	---
C14orf177	283598	broad.mit.edu	37	14	99182725	99182725	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr14:99182725G>C	ENST00000325812.2	+	3	616	c.197G>C	c.(196-198)tGt>tCt	p.C66S		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	66								p.C66S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCCAGGTGCTGTGGTAAGTAT	0.473																																						uc001yfz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)TGT>TCT		hypothetical protein LOC283598							84.0	63.0	70.0					14																	99182725		2203	4300	6503	SO:0001583	missense	283598							g.chr14:99182725G>C	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.197G>C	14.37:g.99182725G>C	ENSP00000321360:p.Cys66Ser						p.C66S	NM_182560	NP_872366	Q52M58	CN177_HUMAN			3	616	+		Melanoma(154;0.128)	66					Q8N7D2	Missense_Mutation	SNP	ENST00000325812.2	37	c.197G>C	CCDS9948.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555097	0.13436	.	.	ENSG00000176605	ENST00000325812;ENST00000541516	T;T	0.42900	1.11;0.96	3.43	-3.08	0.05347	.	.	.	.	.	T	0.18882	0.0453	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.17979	0.02	T	0.16600	-1.0397	9	0.87932	D	0	.	4.5238	0.11971	0.5507:0.0:0.2814:0.1679	.	66	Q52M58	CN177_HUMAN	S	66	ENSP00000321360:C66S;ENSP00000440687:C66S	ENSP00000321360:C66S	C	+	2	0	C14orf177	98252478	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.621000	0.05559	-0.779000	0.04560	-0.142000	0.14014	TGT		PASS	0.473	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		7	30	7	30	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25940176	25940176	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:25940176G>T	ENST00000356865.6	-	14	2989	c.2878C>A	c.(2878-2880)Ccc>Acc	p.P960T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	960					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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.P960T(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACGTGGAGGGTGGGCAGAGA	0.587																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2878-2880)CCC>ACC		ATPase, class V, type 10A							123.0	112.0	115.0					15																	25940176		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940176G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2878C>A	15.37:g.25940176G>T	ENSP00000349325:p.Pro960Thr						p.P960T	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	2984	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	960			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2878C>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146423	0.21288	.	.	ENSG00000206190	ENST00000356865	D	0.88818	-2.43	4.91	-0.445	0.12242	HAD-like domain (1);	0.935307	0.09243	N	0.828912	D	0.82972	0.5153	L	0.59967	1.855	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.63730	-0.6571	10	0.18276	T	0.48	-7.0593	4.1338	0.10160	0.0744:0.3819:0.2388:0.3048	.	960	O60312	AT10A_HUMAN	T	960	ENSP00000349325:P960T	ENSP00000349325:P960T	P	-	1	0	ATP10A	23491269	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.197000	0.09518	-0.232000	0.09811	-0.309000	0.09137	CCC		PASS	0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		16	95	16	95	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27572065	27572065	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:27572065G>C	ENST00000333743.6	+	4	634	c.380G>C	c.(379-381)tGg>tCg	p.W127S	GABRG3_ENST00000555083.1_Missense_Mutation_p.W127S	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	127					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.W127S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGTTAATCTGGATCCCAGAC	0.458																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)TGG>TCG		gamma-aminobutyric acid (GABA) A receptor, gamma							128.0	128.0	128.0					15																	27572065		1987	4202	6189	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27572065G>C		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.380G>C	15.37:g.27572065G>C	ENSP00000331912:p.Trp127Ser					GABRG3_uc001zbf.2_Missense_Mutation_p.W127S	p.W127S	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	4	546	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	127			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.380G>C	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827373	0.71143	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	D;D;D	0.98684	-5.07;-5.07;-5.07	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.98288	1.0512	10	0.87932	D	0	.	19.016	0.92894	0.0:0.0:1.0:0.0	.	127;127	Q99928;G3V594	GBRG3_HUMAN;.	S	127;127;69	ENSP00000331912:W127S;ENSP00000452244:W127S;ENSP00000451862:W69S	ENSP00000331912:W127S	W	+	2	0	GABRG3	25154811	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	9.531000	0.98054	2.718000	0.92993	0.650000	0.86243	TGG		PASS	0.458	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			16	128	16	128	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33990158	33990158	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:33990158G>T	ENST00000389232.4	+	40	6280	c.6210G>T	c.(6208-6210)atG>atT	p.M2070I	RYR3_ENST00000415757.3_Missense_Mutation_p.M2070I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2070	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.M2070I(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGACGGTGATGGAGGTGATGG	0.488																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6208-6210)ATG>ATT		ryanodine receptor 3							198.0	191.0	193.0					15																	33990158		2091	4244	6335	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33990158G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6210G>T	15.37:g.33990158G>T	ENSP00000373884:p.Met2070Ile					RYR3_uc010bar.2_Missense_Mutation_p.M2070I	p.M2070I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	40	6280	+		all_lung(180;7.18e-09)	2070			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6210G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868889	0.72065	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95853	-3.83;-3.83	5.0	5.0	0.66597	Intracellular calcium-release channel (1);	0.046359	0.85682	D	0.000000	D	0.95475	0.8530	M	0.78637	2.42	0.80722	D	1	B;B	0.20988	0.05;0.042	B;B	0.28385	0.033;0.089	D	0.93761	0.7067	10	0.87932	D	0	.	17.8165	0.88635	0.0:0.0:1.0:0.0	.	2070;2070	Q15413-2;Q15413	.;RYR3_HUMAN	I	2070	ENSP00000373884:M2070I;ENSP00000399610:M2070I	ENSP00000354735:M2070I	M	+	3	0	RYR3	31777450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.554000	0.98121	2.753000	0.94483	0.655000	0.94253	ATG		PASS	0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			17	140	17	140	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34015032	34015032	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:34015032G>T	ENST00000389232.4	+	44	6806	c.6736G>T	c.(6736-6738)Ggt>Tgt	p.G2246C	RYR3_ENST00000415757.3_Missense_Mutation_p.G2246C|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2246	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.Q2245_G2246>HC(1)|p.G2246C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCCATGCAGGGTGCCATTAA	0.582																																						uc001zhi.2																			2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6736-6738)GGT>TGT		ryanodine receptor 3							87.0	93.0	91.0					15																	34015032		1959	4123	6082	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015032G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6736G>T	15.37:g.34015032G>T	ENSP00000373884:p.Gly2246Cys					RYR3_uc010bar.2_Missense_Mutation_p.G2246C	p.G2246C	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6806	+		all_lung(180;7.18e-09)	2246			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6736G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649561	0.87958	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97575	-4.44;-4.44	4.93	4.93	0.64822	.	0.127876	0.52532	D	0.000067	D	0.96346	0.8808	L	0.40543	1.245	0.46376	D	0.999017	P;D	0.60160	0.904;0.987	B;P	0.51266	0.394;0.664	D	0.97018	0.9741	10	0.87932	D	0	.	18.336	0.90288	0.0:0.0:1.0:0.0	.	2246;2246	Q15413-2;Q15413	.;RYR3_HUMAN	C	2246	ENSP00000373884:G2246C;ENSP00000399610:G2246C	ENSP00000354735:G2246C	G	+	1	0	RYR3	31802324	1.000000	0.71417	0.972000	0.41901	0.803000	0.45373	7.775000	0.85489	2.553000	0.86117	0.555000	0.69702	GGT		PASS	0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			28	104	28	104	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42057152	42057152	+	Missense_Mutation	SNP	C	C	T	rs143075460		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:42057152C>T	ENST00000570161.1	+	22	7813	c.7813C>T	c.(7813-7815)Ctc>Ttc	p.L2605F	MGA_ENST00000219905.7_Missense_Mutation_p.L2605F|MGA_ENST00000389936.4_Missense_Mutation_p.L2566F|MGA_ENST00000545763.1_Missense_Mutation_p.L2396F|MGA_ENST00000566586.1_Missense_Mutation_p.L2396F			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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.L2654F(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGGCAATTGCTCACCCTAAA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		21365	0.0		0.001	False		,,,				2504	0.0					uc010ucy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(7813-7815)CTC>TTC		MAX-interacting protein isoform 1		C	PHE/LEU,PHE/LEU	0,4056		0,0,2028	133.0	137.0	135.0		7186,7813	5.9	1.0	15	dbSNP_134	135	1,8369		0,1,4184	yes	missense,missense	MGA	NM_001080541.2,NM_001164273.1	22,22	0,1,6212	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	2396/2857,2605/3066	42057152	1,12425	2028	4185	6213	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42057152C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7813C>T	15.37:g.42057152C>T	ENSP00000457035:p.Leu2605Phe					MGA_uc010ucz.1_Missense_Mutation_p.L2396F	p.L2605F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	23	7994	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2566					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7813C>T	CCDS55959.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.0	4.696522	0.88830	0.0	1.19E-4	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.89810	-2.54;-2.53;-2.57	5.89	5.89	0.94794	.	0.000000	0.45606	D	0.000350	D	0.90515	0.7028	N	0.19112	0.55	0.33221	D	0.554718	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.92745	0.6211	10	0.87932	D	0	.	17.4121	0.87488	0.0:1.0:0.0:0.0	.	2396;2605	F5H7K2;E7ENI0	.;.	F	2605;2566;2396	ENSP00000219905:L2605F;ENSP00000374586:L2566F;ENSP00000442467:L2396F	ENSP00000219905:L2605F	L	+	1	0	MGA	39844444	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.576000	0.60915	2.797000	0.96272	0.563000	0.77884	CTC		PASS	0.458	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		30	108	30	108	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43281054	43281054	+	Silent	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:43281054C>A	ENST00000290650.4	-	35	4038	c.3960G>T	c.(3958-3960)ctG>ctT	p.L1320L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1320					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1320L(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGCTCCAGGTCAGCATGGGGA	0.413																																						uc001zqq.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(3958-3960)CTG>CTT		ubiquitin protein ligase E3 component n-recognin							123.0	125.0	125.0					15																	43281054		2203	4299	6502	SO:0001819	synonymous_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43281054C>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3960G>T	15.37:g.43281054C>A							p.L1320L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	35	4026	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1320					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	c.3960G>T	CCDS10091.1																																																																																				PASS	0.413	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		41	112	41	112	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55972345	55972345	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:55972345C>T	ENST00000389286.4	-	6	927	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin									p.V294I(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGTAGCCTGACATCAGATATC	0.383																																						uc002adg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(880-882)GTC>ATC		protogenin precursor							72.0	69.0	70.0					15																	55972345		1908	4125	6033	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55972345C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.880G>A	15.37:g.55972345C>T	ENSP00000373937:p.Val294Ile						p.V294I	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	6	928	-			294			Ig-like 3.			Missense_Mutation	SNP	ENST00000389286.4	37	c.880G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500635	0.26861	.	.	ENSG00000166450	ENST00000389286	T	0.69306	-0.39	5.62	1.46	0.22682	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.276344	0.35615	N	0.003082	T	0.57873	0.2083	L	0.58101	1.795	0.80722	D	1	B	0.18968	0.032	B	0.22152	0.038	T	0.46527	-0.9185	10	0.22109	T	0.4	-6.6699	9.8743	0.41194	0.0:0.7091:0.0:0.2909	.	294	Q2VWP7	PRTG_HUMAN	I	294	ENSP00000373937:V294I	ENSP00000373937:V294I	V	-	1	0	PRTG	53759637	0.876000	0.30132	0.810000	0.32431	0.523000	0.34469	0.873000	0.28052	0.080000	0.16959	-0.444000	0.05651	GTC		PASS	0.383	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		14	35	14	35	---	---	---	---
PLEKHO2	80301	broad.mit.edu	37	15	65153739	65153739	+	Nonsense_Mutation	SNP	C	C	T	rs200060372		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:65153739C>T	ENST00000323544.4	+	5	576	c.448C>T	c.(448-450)Cga>Tga	p.R150*	AC069368.3_ENST00000437723.1_Nonsense_Mutation_p.R150*	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	150								p.R150*(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGGGCCAGCGACGCCGGCC	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18157	0.0		0.0	False		,,,				2504	0.0					uc002anv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(448-450)CGA>TGA		pleckstrin homology domain containing, family O							27.0	25.0	26.0					15																	65153739		2199	4299	6498	SO:0001587	stop_gained	80301							g.chr15:65153739C>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.448C>T	15.37:g.65153739C>T	ENSP00000326706:p.Arg150*					PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Nonsense_Mutation_p.R100*	p.R150*	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			5	582	+			150					Q7L4H4|Q8WYS8	Nonsense_Mutation	SNP	ENST00000323544.4	37	c.448C>T	CCDS10196.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	36	5.683044	0.96774	.	.	ENSG00000249240;ENSG00000241839;ENSG00000241839	ENST00000437723;ENST00000323544;ENST00000546008	.	.	.	5.03	3.05	0.35203	.	0.811699	0.11464	N	0.561458	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.5238	0.27643	0.3644:0.4807:0.155:0.0	.	.	.	.	X	150	.	ENSP00000397942:R150X	R	+	1	2	PLEKHO2;AC069368.3	62940792	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	2.256000	0.43231	0.622000	0.30249	0.462000	0.41574	CGA		PASS	0.647	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		5	38	5	38	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77908027	77908027	+	Silent	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr15:77908027G>C	ENST00000355300.6	-	2	396	c.222C>G	c.(220-222)cgC>cgG	p.R74R	LINGO1_ENST00000561030.1_Silent_p.R68R	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	74					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R68R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTCCAGCAGGCGCGTCTCGG	0.662																																						uc002bct.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(220-222)CGC>CGG		leucine-rich repeat neuronal 6A							24.0	28.0	27.0					15																	77908027		2131	4229	6360	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77908027G>C	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.222C>G	15.37:g.77908027G>C						LINGO1_uc002bcu.1_Silent_p.R68R	p.R74R	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	274	-			74			Extracellular (Potential).|LRR 1.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.222C>G	CCDS45313.1																																																																																				PASS	0.662	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		4	12	4	12	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3293469	3293469	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:3293469G>T	ENST00000219596.1	-	10	2057	c.2018C>A	c.(2017-2019)tCc>tAc	p.S673Y	MEFV_ENST00000339854.4_Missense_Mutation_p.S493Y|MEFV_ENST00000536379.1_Missense_Mutation_p.S462Y|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	673	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.S673Y(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCTGCTTATGGATGTCTTGCA	0.542																																						uc002cun.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(2017-2019)TCC>TAC		Mediterranean fever protein	Colchicine(DB01394)						132.0	120.0	124.0					16																	3293469		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293469G>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2018C>A	16.37:g.3293469G>T	ENSP00000219596:p.Ser673Tyr						p.S673Y	NM_000243	NP_000234	O15553	MEFV_HUMAN			10	2058	-			673			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.2018C>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687047	0.29962	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.66995	-0.24;-0.24;-0.24	5.18	2.0	0.26442	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.371790	0.04915	N	0.453942	D	0.84356	0.5454	M	0.92738	3.34	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.56492	-0.7970	10	0.66056	D	0.02	-21.578	4.8092	0.13335	0.0858:0.1494:0.6105:0.1544	.	673	O15553	MEFV_HUMAN	Y	673;493;462	ENSP00000219596:S673Y;ENSP00000339639:S493Y;ENSP00000445079:S462Y	ENSP00000219596:S673Y	S	-	2	0	MEFV	3233470	0.973000	0.33851	0.000000	0.03702	0.123000	0.20343	5.616000	0.67709	0.231000	0.21079	0.650000	0.86243	TCC		PASS	0.542	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		28	105	28	105	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19451423	19451423	+	Silent	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:19451423G>C	ENST00000396229.2	+	3	812	c.63G>C	c.(61-63)ggG>ggC	p.G21G	TMC5_ENST00000541464.1_Silent_p.G21G|TMC5_ENST00000381414.4_Silent_p.G21G|TMC5_ENST00000542583.2_Silent_p.G21G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	21					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G21G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTATTCAGGGTCTCAGAACC	0.493																																						uc002dgc.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(61-63)GGG>GGC		transmembrane channel-like 5 isoform a							99.0	95.0	96.0					16																	19451423		1864	4115	5979	SO:0001819	synonymous_variant	79838					integral to membrane		g.chr16:19451423G>C	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.63G>C	16.37:g.19451423G>C						TMC5_uc010vaq.1_Silent_p.G21G|TMC5_uc002dgb.3_Silent_p.G21G|TMC5_uc010var.1_Silent_p.G21G	p.G21G	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			3	812	+			21			Extracellular (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	37	c.63G>C	CCDS45431.1																																																																																				PASS	0.493	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		17	112	17	112	---	---	---	---
ZP2	7783	broad.mit.edu	37	16	21215489	21215489	+	Silent	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:21215489T>C	ENST00000574002.1	-	10	1316	c.834A>G	c.(832-834)ccA>ccG	p.P278P	ZP2_ENST00000574091.1_Silent_p.P278P|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.P278P			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	278					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.P278P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CAGGAAACTCTGGTATGGTGA	0.443																																						uc002dii.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(832-834)CCA>CCG		zona pellucida glycoprotein 2 preproprotein							106.0	94.0	98.0					16																	21215489		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21215489T>C	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.834A>G	16.37:g.21215489T>C						ZP2_uc010bwn.1_Silent_p.P317P|ZP2_uc010bwo.2_Silent_p.P317P	p.P278P	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	9	834	-			278			Extracellular (Potential).		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.834A>G	CCDS10596.1																																																																																				PASS	0.443	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			22	70	22	70	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29888632	29888632	+	Silent	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:29888632T>A	ENST00000308713.5	-	11	2396	c.1869A>T	c.(1867-1869)ccA>ccT	p.P623P	SEZ6L2_ENST00000537485.1_Silent_p.P579P|SEZ6L2_ENST00000346932.5_Silent_p.P509P|SEZ6L2_ENST00000350527.3_Silent_p.P553P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	623	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P623P(1)|p.P553P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCTGGATTTGGGGGCCCGG	0.682																																						uc002duq.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1867-1869)CCA>CCT		seizure related 6 homolog (mouse)-like 2 isoform							16.0	18.0	18.0					16																	29888632		2196	4297	6493	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29888632T>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1869A>T	16.37:g.29888632T>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.P553P|SEZ6L2_uc002dur.3_Silent_p.P553P|SEZ6L2_uc002dus.3_Silent_p.P509P|SEZ6L2_uc010vec.1_Silent_p.P623P|SEZ6L2_uc010ved.1_Silent_p.P579P	p.P623P	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			11	2109	-			623			CUB 3.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.1869A>T	CCDS10659.1																																																																																				PASS	0.682	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		4	37	4	37	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29997089	29997089	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:29997089G>T	ENST00000308893.4	+	15	2942	c.1899G>T	c.(1897-1899)cgG>cgT	p.R633R	TAOK2_ENST00000279394.3_Silent_p.R633R|TAOK2_ENST00000416441.2_Silent_p.R460R|TAOK2_ENST00000543033.1_Silent_p.R633R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	633					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.R633R(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCTGCTGCGGCGGCAGCGCC	0.657																																						uc002dva.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1897-1899)CGG>CGT		TAO kinase 2 isoform 2							22.0	23.0	22.0					16																	29997089		2195	4296	6491	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997089G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1899G>T	16.37:g.29997089G>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.R633R|TAOK2_uc002dvc.1_Silent_p.R633R|TAOK2_uc010bzm.1_Silent_p.R640R|TAOK2_uc002dvd.1_Silent_p.R460R	p.R633R	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			15	2682	+			633					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.1899G>T	CCDS10663.1																																																																																				PASS	0.657	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		3	14	3	14	---	---	---	---
BCL7C	9274	broad.mit.edu	37	16	30899246	30899246	+	Silent	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:30899246T>A	ENST00000215115.4	-	6	1609	c.594A>T	c.(592-594)acA>acT	p.T198T	MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000570025.1_RNA|AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	198	Pro-rich.				apoptotic process (GO:0006915)			p.T198T(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			CCGAGTCCTCTGTGTCACCCT	0.657																																						uc002dzv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)ACA>ACT		B-cell CLL/lymphoma 7C							81.0	89.0	87.0					16																	30899246		2197	4300	6497	SO:0001819	synonymous_variant	9274				apoptosis			g.chr16:30899246T>A	AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.594A>T	16.37:g.30899246T>A						BCL7C_uc002dzt.1_Intron|uc002dzu.2_Intron	p.T198T	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	Colorectal(24;0.198)		6	728	-			198			Pro-rich.		O43770|Q6PD89	Silent	SNP	ENST00000215115.4	37	c.594A>T	CCDS10693.1																																																																																				PASS	0.657	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255547.3	NM_004765		30	178	30	178	---	---	---	---
PYDC1	260434	broad.mit.edu	37	16	31230814	31230814	+	5'Flank	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:31230814G>C	ENST00000302964.3	-	0	0				TRIM72_ENST00000322122.3_Missense_Mutation_p.D231H	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)		p.D231H(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGAGGTGGCGGACAAGCCGCA	0.652																																						uc002ebn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(691-693)GAC>CAC		tripartite motif-containing 72							29.0	34.0	33.0					16																	31230814		2197	4300	6497	SO:0001631	upstream_gene_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31230814G>C		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230814G>C	Exception_encountered					PYDC1_uc002ebo.2_5'Flank	p.D231H	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			4	920	+			231					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.691G>C	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117176	0.77323	.	.	ENSG00000177238	ENST00000322122	T	0.64438	-0.1	5.28	5.28	0.74379	.	0.237181	0.36409	N	0.002612	T	0.68284	0.2984	L	0.48642	1.525	0.45452	D	0.998424	D	0.76494	0.999	P	0.59703	0.862	T	0.70536	-0.4845	10	0.66056	D	0.02	.	11.2214	0.48857	0.086:0.0:0.914:0.0	.	231	Q6ZMU5	TRI72_HUMAN	H	231	ENSP00000312675:D231H	ENSP00000312675:D231H	D	+	1	0	TRIM72	31138315	0.997000	0.39634	0.946000	0.38457	0.898000	0.52572	2.708000	0.47152	2.454000	0.82982	0.591000	0.81541	GAC		PASS	0.652	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		8	27	8	27	---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55734196	55734196	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:55734196G>T	ENST00000379906.2	+	12	1991	c.1736G>T	c.(1735-1737)aGc>aTc	p.S579I	SLC6A2_ENST00000567238.1_Missense_Mutation_p.S474I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.S534I|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000568943.1_Missense_Mutation_p.S579I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.S579I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.S579I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	579					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.S579I(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AAGTTCCTCAGCACGCAGGGC	0.627																																						uc002eif.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|pancreas(2)	8						c.(1735-1737)AGC>ATC		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						73.0	64.0	67.0					16																	55734196		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55734196G>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1736G>T	16.37:g.55734196G>T	ENSP00000369237:p.Ser579Ile					SLC6A2_uc010ccd.2_Intron|SLC6A2_uc002eig.2_Missense_Mutation_p.S579I|SLC6A2_uc002eih.2_Missense_Mutation_p.S579I|SLC6A2_uc002eii.2_Missense_Mutation_p.S474I|SLC6A2_uc002eij.2_Missense_Mutation_p.S293I	p.S579I	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	13	1847	+			579			Cytoplasmic (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1736G>T	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	7.173	0.588049	0.13812	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.75477	-0.94;-0.94	5.38	4.36	0.52297	.	0.185156	0.56097	D	0.000024	T	0.64616	0.2614	L	0.48218	1.51	0.44330	D	0.997212	B;B;B	0.28026	0.042;0.198;0.122	B;B;B	0.31337	0.03;0.128;0.128	T	0.58211	-0.7676	10	0.20046	T	0.44	.	8.6841	0.34227	0.0838:0.1557:0.7605:0.0	.	293;474;579	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	I	579;293;579;579	ENSP00000369237:S579I;ENSP00000219833:S579I	ENSP00000219833:S579I	S	+	2	0	SLC6A2	54291697	0.996000	0.38824	0.993000	0.49108	0.551000	0.35334	2.421000	0.44688	2.499000	0.84300	0.655000	0.94253	AGC		PASS	0.627	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			15	61	15	61	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66944196	66944196	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:66944196C>A	ENST00000299752.4	-	15	2327	c.2134G>T	c.(2134-2136)Gtg>Ttg	p.V712L	CDH16_ENST00000568632.1_Missense_Mutation_p.V615L|CDH16_ENST00000565796.1_Missense_Mutation_p.V673L|CDH16_ENST00000570262.1_Missense_Mutation_p.V632L|CDH16_ENST00000394055.3_Missense_Mutation_p.V690L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	712	Ectodomain G.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V712L(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCCCGTTGCACCGTGGGGTTG	0.627																																						uc002eql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2134-2136)GTG>TTG		cadherin 16 precursor							95.0	94.0	94.0					16																	66944196		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944196C>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2134G>T	16.37:g.66944196C>A	ENSP00000299752:p.Val712Leu					CDH16_uc010cdy.2_Missense_Mutation_p.V690L|CDH16_uc002eqm.2_Missense_Mutation_p.V615L	p.V712L	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2207	-		Ovarian(137;0.0563)	712			Extracellular (Potential).|Ectodomain G.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.2134G>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614653	0.28712	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.55930	0.49;0.49	4.9	3.92	0.45320	.	0.080199	0.49305	D	0.000142	T	0.60741	0.2292	L	0.53249	1.67	0.41639	D	0.989068	P;D;D	0.76494	0.724;0.994;0.999	B;D;D	0.76071	0.203;0.978;0.987	T	0.54316	-0.8312	10	0.14656	T	0.56	-8.7538	9.3735	0.38268	0.0:0.9001:0.0:0.0999	.	690;712;712	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	L	690;712;676	ENSP00000377619:V690L;ENSP00000299752:V712L	ENSP00000299752:V712L	V	-	1	0	CDH16	65501697	0.941000	0.31946	0.953000	0.39169	0.954000	0.61252	1.978000	0.40598	2.571000	0.86741	0.561000	0.74099	GTG		PASS	0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		24	54	24	54	---	---	---	---
DUS2	54920	broad.mit.edu	37	16	68087518	68087518	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:68087518G>A	ENST00000565263.1	+	5	718	c.224G>A	c.(223-225)cGc>cAc	p.R75H	DUS2_ENST00000432752.1_Missense_Mutation_p.R75H|DUS2_ENST00000358896.6_Missense_Mutation_p.R75H|AC130462.1_ENST00000408862.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	75					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)	p.R75H(1)									GTTGTCTTCCGCACCTGTGAA	0.527																																						uc002evi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)CGC>CAC		dihydrouridine synthase 2-like, SMM1 homolog							186.0	144.0	158.0					16																	68087518		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68087518G>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.224G>A	16.37:g.68087518G>A	ENSP00000455229:p.Arg75His					DUS2L_uc002evj.2_Missense_Mutation_p.R75H|DUS2L_uc010vkk.1_Missense_Mutation_p.R75H|DUS2L_uc010cez.2_5'UTR	p.R75H	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	5	373	+		Ovarian(137;0.192)	75					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.224G>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954838	0.53293	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.31510	1.49;1.92	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);	0.062771	0.64402	D	0.000011	T	0.60715	0.2290	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.77004	0.989;0.833	T	0.63941	-0.6523	10	0.87932	D	0	-34.6484	17.3468	0.87311	0.0:0.0:1.0:0.0	.	75;75	E7EUN9;Q9NX74	.;DUS2L_HUMAN	H	75	ENSP00000351769:R75H;ENSP00000409498:R75H	ENSP00000351769:R75H	R	+	2	0	DUS2L	66645019	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.793000	0.85851	2.834000	0.97654	0.557000	0.71058	CGC		PASS	0.527	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		13	71	13	71	---	---	---	---
COG4	25839	broad.mit.edu	37	16	70531872	70531873	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:70531872_70531873CC>AA	ENST00000323786.5	-	10	1302_1303	c.1281_1282GG>TT	c.(1279-1284)atGGag>atTTag	p.427_428ME>I*		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	423					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.M427I(1)|p.M427_E428>I*(1)|p.E428*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AAGTACTCCTCCATGGTAACAT	0.495																																						uc002ezc.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)		0						c.(1282-1284)GAG>TAG|c.(1279-1281)ATG>ATT		component of oligomeric golgi complex 4																																				SO:0001587	stop_gained	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70531872C>A|g.chr16:70531873C>A	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1281_1282delinsAA	16.37:g.70531872_70531873delinsAA	ENSP00000315775:p.M427_E428delinsI*					COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Nonsense_Mutation_p.E428*|COG4_uc002eze.2_Nonsense_Mutation_p.E122*|COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.M427I|COG4_uc002eze.2_Missense_Mutation_p.M121I	p.E428*|p.M427I	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			10	1293|1292	-		Ovarian(137;0.0694)	424|423					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000323786.5	37	c.1282G>T|c.1281G>T	CCDS10892.2																																																																																				PASS	0.495	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			25|24	177|176	24	176	---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84050258	84050258	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr16:84050258C>A	ENST00000299709.3	-	8	1027	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	343					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.G343V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GACCCACAGCCCTGAGGGGTC	0.647																																						uc002fhg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)GGG>GTG		solute carrier family 38, member 8							50.0	52.0	51.0					16																	84050258		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050258C>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1028G>T	16.37:g.84050258C>A	ENSP00000299709:p.Gly343Val						p.G343V	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			8	1028	-			343						Missense_Mutation	SNP	ENST00000299709.3	37	c.1028G>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864106	0.32884	.	.	ENSG00000166558	ENST00000299709	T	0.02015	4.5	4.36	2.36	0.29203	.	0.230494	0.42964	D	0.000626	T	0.04907	0.0132	L	0.44542	1.39	0.58432	D	0.999992	D	0.71674	0.998	D	0.63033	0.91	T	0.48525	-0.9028	10	0.37606	T	0.19	.	5.4211	0.16400	0.0:0.6305:0.0:0.3695	.	343	A6NNN8	S38A8_HUMAN	V	343	ENSP00000299709:G343V	ENSP00000299709:G343V	G	-	2	0	SLC38A8	82607759	0.312000	0.24545	0.929000	0.37066	0.721000	0.41392	1.949000	0.40313	1.979000	0.57680	0.478000	0.44815	GGG		PASS	0.647	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		13	58	13	58	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(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	CM067054	TP53	M		c.(535-537)CAT>TAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578395		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.chr17:7578395G>A	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.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	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.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	p.H179Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	729	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	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.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		PASS	0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	39	24	39	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10428931	10428931	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:10428931G>T	ENST00000245503.5	-	32	4758	c.4374C>A	c.(4372-4374)atC>atA	p.I1458I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.I1458I|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1458					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I1458I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTCTGCCAGGATCTGAAAAA	0.463																																						uc010coi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4372-4374)ATC>ATA		myosin heavy chain IIa							66.0	68.0	67.0					17																	10428931		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428931G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4374C>A	17.37:g.10428931G>T						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.I1458I|MYH2_uc010coj.2_Intron	p.I1458I	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			32	4502	-			1458			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4374C>A	CCDS11156.1																																																																																				PASS	0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		21	38	21	38	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10438500	10438501	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:10438500_10438501CA>AT	ENST00000245503.5	-	19	2453_2454	c.2069_2070TG>AT	c.(2068-2070)aTG>aAT	p.M690N	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.M690N|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	690	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.M690N(1)|p.M690K(1)|p.M690I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCATGCTCCATGGCACCTAA	0.455																																						uc010coi.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2068-2070)ATG>ATT|c.(2068-2070)ATG>AAG		myosin heavy chain IIa																																				SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10438500C>A|g.chr17:10438501A>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2069_2070delinsAT	17.37:g.10438500_10438501delinsAT	ENSP00000245503:p.Met690Asn					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.M690I|MYH2_uc010coj.2_Intron|uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.M690K|MYH2_uc010coj.2_Intron	p.M690I|p.M690K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			19	2198|2197	-			690			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2070G>T|c.2069T>A	CCDS11156.1																																																																																				PASS	0.455	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		19|18	42|41	18	41	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21318931	21318931	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:21318931G>T	ENST00000583088.1	+	3	1172	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A93S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	93					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.A93S(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGCCTTCCTTGCCTCCTGGCT	0.622										Prostate(3;0.18)																												uc002gyv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(277-279)GCC>TCC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						156.0	97.0	117.0					17																	21318931		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318931G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.277G>T	17.37:g.21318931G>T	ENSP00000463778:p.Ala93Ser	Prostate(3;0.18)					p.A93S	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	982	+			93			Helical; Name=M1; (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.277G>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943609	0.53079	.	.	ENSG00000184185	ENST00000331718	D	0.95980	-3.87	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.255631	0.38720	N	0.001581	D	0.94814	0.8325	L	0.31065	0.9	0.35573	D	0.805644	B	0.29671	0.254	P	0.44447	0.45	D	0.96248	0.9181	10	0.62326	D	0.03	.	18.7905	0.91973	0.0:0.0:1.0:0.0	.	93	Q14500	IRK12_HUMAN	S	93	ENSP00000328150:A93S	ENSP00000328150:A93S	A	+	1	0	KCNJ12	21259524	0.994000	0.37717	0.998000	0.56505	0.962000	0.63368	2.338000	0.43957	2.448000	0.82819	0.591000	0.81541	GCC		PASS	0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	62	4	62	---	---	---	---
UTP6	55813	broad.mit.edu	37	17	30214305	30214305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:30214305C>A	ENST00000261708.4	-	8	708	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	CTC-542B22.2_ENST00000583236.1_lincRNA|UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	191					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.E191*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTCAGTTTTTCAGCATGCATC	0.343																																						uc002hgr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(571-573)GAA>TAA		hepatocellular carcinoma-associated antigen 66							100.0	94.0	96.0					17																	30214305		2203	4299	6502	SO:0001587	stop_gained	55813				rRNA processing	nucleolus	binding	g.chr17:30214305C>A	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.571G>T	17.37:g.30214305C>A	ENSP00000261708:p.Glu191*					UTP6_uc002hgq.2_Nonsense_Mutation_p.E7*|UTP6_uc010cst.2_Nonsense_Mutation_p.E40*|UTP6_uc010wbw.1_Nonsense_Mutation_p.E191*	p.E191*	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN			8	654	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	191					Q8IX96|Q96BL2|Q9NQ91	Nonsense_Mutation	SNP	ENST00000261708.4	37	c.571G>T	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	C	37	6.137752	0.97315	.	.	ENSG00000108651	ENST00000261708	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.3444	18.0928	0.89479	0.0:1.0:0.0:0.0	.	.	.	.	X	191	.	ENSP00000261708:E191X	E	-	1	0	UTP6	27238418	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	6.548000	0.73896	2.382000	0.81193	0.467000	0.42956	GAA		PASS	0.343	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		3	47	3	47	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33520925	33520925	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:33520925G>A	ENST00000297307.5	-	1	487	c.402C>T	c.(400-402)cgC>cgT	p.R134R	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	134	EamA 1.					integral component of membrane (GO:0016021)		p.R134R(1)									AAGAACCTTTGCGAACAGTGG	0.602																																						uc002hjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)CGC>CGT		acyl-malonyl condensing enzyme 1							146.0	139.0	142.0					17																	33520925		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520925G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.402C>T	17.37:g.33520925G>A							p.R134R	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	488	-			134			DUF6 1.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.402C>T	CCDS11293.1																																																																																				PASS	0.602	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		64	131	64	131	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35921351	35921351	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:35921351C>A	ENST00000339208.6	-	13	1749	c.1609G>T	c.(1609-1611)Gat>Tat	p.D537Y	SYNRG_ENST00000585472.1_Missense_Mutation_p.D458Y|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000394378.2_Missense_Mutation_p.D459Y|SYNRG_ENST00000346661.4_Missense_Mutation_p.D537Y|SYNRG_ENST00000591288.1_Missense_Mutation_p.D376Y|SYNRG_ENST00000345615.4_Missense_Mutation_p.D459Y|SYNRG_ENST00000502449.2_Missense_Mutation_p.D459Y	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	537	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.D537Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTATATTTATCACCAGGATCT	0.353																																						uc002hoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1609-1611)GAT>TAT		synergin, gamma isoform 1							81.0	84.0	83.0					17																	35921351		2202	4300	6502	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35921351C>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1609G>T	17.37:g.35921351C>A	ENSP00000343610:p.Asp537Tyr					SYNRG_uc010wde.1_Missense_Mutation_p.D459Y|SYNRG_uc010wdf.1_Missense_Mutation_p.D459Y|SYNRG_uc002hoc.2_Missense_Mutation_p.D458Y|SYNRG_uc002hoe.2_Missense_Mutation_p.D459Y|SYNRG_uc002hod.2_Missense_Mutation_p.D459Y|SYNRG_uc010wdg.1_Missense_Mutation_p.D376Y|SYNRG_uc002hob.2_Missense_Mutation_p.D537Y|SYNRG_uc002hof.2_Missense_Mutation_p.D249Y|SYNRG_uc010cvd.1_Missense_Mutation_p.D337Y	p.D537Y	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			13	1692	-			537			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1609G>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426202	0.83667	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.56103	1.05;0.48;0.49	5.85	5.85	0.93711	.	0.201715	0.51477	D	0.000097	T	0.71609	0.3360	M	0.61703	1.905	0.80722	D	1	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	0.989;1.0;1.0;1.0;0.999;0.999	T	0.72404	-0.4304	10	0.72032	D	0.01	-9.0807	18.3252	0.90251	0.0:1.0:0.0:0.0	.	376;459;459;459;537;537	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	Y	537;376;537;459;459	ENSP00000005279:D537Y;ENSP00000424893:D459Y;ENSP00000377903:D459Y	ENSP00000343610:D376Y	D	-	1	0	SYNRG	32995464	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.989000	0.70587	2.756000	0.94617	0.591000	0.81541	GAT		PASS	0.353	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		21	53	21	53	---	---	---	---
KRT17	3872	broad.mit.edu	37	17	39775851	39775851	+	Missense_Mutation	SNP	G	G	A	rs369304694	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:39775851G>A	ENST00000311208.8	-	8	1361	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	JUP_ENST00000540235.1_Missense_Mutation_p.R591C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	432	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)	p.R432C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTCCTCAGCGGGTGGTCTGG	0.677													g|||	3	0.000599042	0.0	0.0	5008	,	,		16365	0.003		0.0	False		,,,				2504	0.0				Pancreas(92;1242 2086 39193 50508)	uc002hxh.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(1294-1296)CGC>TGC		keratin 17							76.0	79.0	78.0					17																	39775851		2203	4300	6503	SO:0001583	missense	3872	Steatocystoma_Multiplex			epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39775851G>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1294C>T	17.37:g.39775851G>A	ENSP00000308452:p.Arg432Cys					JUP_uc010wfs.1_Intron	p.R432C	NM_000422	NP_000413	Q04695	K1C17_HUMAN			8	1415	-		Breast(137;0.000307)	432			Tail.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1294C>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936784	0.52972	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;T	0.82803	-1.65;-1.42	4.44	3.46	0.39613	.	0.959820	0.08524	N	0.933015	T	0.78375	0.4273	N	0.08118	0	0.32330	N	0.561195	D	0.76494	0.999	P	0.54346	0.749	T	0.76380	-0.2980	10	0.87932	D	0	.	11.2526	0.49034	0.0:0.0:0.8172:0.1828	.	432	Q04695	K1C17_HUMAN	C	432;591	ENSP00000308452:R432C;ENSP00000441751:R591C	ENSP00000441751:R591C	R	-	1	0	JUP;KRT17	37029377	0.998000	0.40836	0.770000	0.31555	0.445000	0.32107	3.123000	0.50453	0.979000	0.38497	0.462000	0.41574	CGC		PASS	0.677	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		16	139	16	139	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917355	48917355	+	Missense_Mutation	SNP	C	C	T	rs191998613	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:48917355C>T	ENST00000311378.4	+	2	1234	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R143W	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	236	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R236W(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGTGGTGGGCCGGCCCCGGCC	0.622													C|||	27	0.00539137	0.0	0.0389	5008	,	,		18681	0.0		0.0	False		,,,				2504	0.0					uc002isv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(706-708)CGG>TGG		WFIKKN2 protein			TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	85.0	86.0	85.0		706	4.5	1.0	17		85	0,8600		0,0,4300	yes	missense	WFIKKN2	NM_175575.5	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	236/577	48917355	3,13003	2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917355C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.706C>T	17.37:g.48917355C>T	ENSP00000311184:p.Arg236Trp					WFIKKN2_uc010dbu.2_Missense_Mutation_p.R143W	p.R236W	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1400	+			236			Ig-like C2-type.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.706C>T	CCDS11575.1	7	0.003205128205128205	0	0.0	7	0.019337016574585635	0	0.0	0	0.0	C	16.47	3.133612	0.56828	6.81E-4	0.0	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.67698	-0.28;-0.28	5.44	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117600	0.56097	D	0.000023	T	0.63224	0.2493	L	0.50919	1.6	0.40652	D	0.982046	D	0.89917	1.0	D	0.73708	0.981	T	0.74771	-0.3552	10	0.72032	D	0.01	.	13.5177	0.61549	0.4002:0.5998:0.0:0.0	.	236	Q8TEU8	WFKN2_HUMAN	W	143;236	ENSP00000405889:R143W;ENSP00000311184:R236W	ENSP00000311184:R236W	R	+	1	2	WFIKKN2	46272354	0.041000	0.20044	1.000000	0.80357	0.954000	0.61252	0.524000	0.22940	1.253000	0.44018	0.651000	0.88453	CGG		PASS	0.622	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		11	63	11	63	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60743550	60743550	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:60743550C>T	ENST00000303375.5	+	3	1018	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	206	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.R206C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CAGCACGGGCCGCGAGGATGG	0.607																																						uc002jad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(616-618)CGC>TGC		mannose receptor, C type 2							54.0	40.0	44.0					17																	60743550		2201	4300	6501	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60743550C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.616C>T	17.37:g.60743550C>T	ENSP00000307513:p.Arg206Cys					MRC2_uc002jac.2_Missense_Mutation_p.R206C	p.R206C	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			3	1018	+			206			Extracellular (Potential).|Fibronectin type-II.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.616C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794425	0.70452	.	.	ENSG00000011028	ENST00000303375	T	0.54675	0.56	4.55	0.995	0.19838	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.061993	0.64402	D	0.000008	T	0.78413	0.4279	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84428	0.0575	10	0.72032	D	0.01	-26.0131	13.7525	0.62917	0.4914:0.5086:0.0:0.0	.	206	Q9UBG0	MRC2_HUMAN	C	206	ENSP00000307513:R206C	ENSP00000307513:R206C	R	+	1	0	MRC2	58097282	0.894000	0.30519	0.997000	0.53966	0.948000	0.59901	1.756000	0.38390	0.485000	0.27652	0.561000	0.74099	CGC		PASS	0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			7	9	7	9	---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72346634	72346634	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:72346634G>T	ENST00000389916.4	+	11	1446	c.1308G>T	c.(1306-1308)gtG>gtT	p.V436V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	436					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.V436V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATGGATGTGCGGAGGCGCC	0.672																																						uc002jkm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1306-1308)GTG>GTT		kinesin family member 19							24.0	25.0	25.0					17																	72346634		2202	4299	6501	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72346634G>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1308G>T	17.37:g.72346634G>T						KIF19_uc002jkj.2_Silent_p.V436V|KIF19_uc002jkk.2_Silent_p.V394V|KIF19_uc002jkl.2_Silent_p.V394V	p.V436V	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			11	1446	+			436			Potential.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1308G>T	CCDS32718.2																																																																																				PASS	0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		13	15	13	15	---	---	---	---
BTBD17	388419	broad.mit.edu	37	17	72356212	72356212	+	Silent	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:72356212C>T	ENST00000375366.3	-	2	384	c.258G>A	c.(256-258)ctG>ctA	p.L86L		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	86	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.L86L(1)		endometrium(1)|kidney(1)|lung(4)	6						GCAGTCCCAGCAGCAGGCGGT	0.647																																						uc002jkn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)CTG>CTA		BTB (POZ) domain containing 17 precursor							49.0	46.0	47.0					17																	72356212		2203	4300	6503	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72356212C>T		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.258G>A	17.37:g.72356212C>T							p.L86L	NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN			2	258	-			86			BTB.			Silent	SNP	ENST00000375366.3	37	c.258G>A	CCDS32719.1																																																																																				PASS	0.647	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		11	51	11	51	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74448907	74448907	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:74448907C>A	ENST00000319380.7	-	1	381	c.317G>T	c.(316-318)gGc>gTc	p.G106V	AANAT_ENST00000250615.3_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	106					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.G106V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GTGGCCCGCGCCCCCGGCCTC	0.741																																						uc002jrm.3																			2	Substitution - Missense(2)		lung(2)	breast(2)|skin(2)|lung(1)	5						c.(316-318)GGC>GTC		ubiquitin-conjugating enzyme E2O							3.0	4.0	3.0					17																	74448907		1770	3482	5252	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74448907C>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.317G>T	17.37:g.74448907C>A	ENSP00000323687:p.Gly106Val					UBE2O_uc002jrn.3_Missense_Mutation_p.G106V	p.G106V	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			1	382	-			106					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.317G>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096759	0.76870	.	.	ENSG00000175931	ENST00000319380	T	0.73152	-0.72	4.27	3.26	0.37387	.	0.000000	0.64402	D	0.000002	T	0.60560	0.2278	L	0.47716	1.5	0.54753	D	0.999986	B	0.10296	0.003	B	0.04013	0.001	T	0.53315	-0.8456	10	0.14656	T	0.56	-16.3722	13.0466	0.58931	0.0:0.8364:0.1636:0.0	.	106	Q9C0C9	UBE2O_HUMAN	V	106	ENSP00000323687:G106V	ENSP00000323687:G106V	G	-	2	0	UBE2O	71960502	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	4.025000	0.57225	0.863000	0.35553	0.563000	0.77884	GGC		PASS	0.741	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		3	4	3	4	---	---	---	---
CYTH1	9267	broad.mit.edu	37	17	76694409	76694409	+	Silent	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:76694409C>A	ENST00000446868.3	-	9	823	c.753G>T	c.(751-753)ggG>ggT	p.G251G	CYTH1_ENST00000361101.4_Silent_p.G251G|CYTH1_ENST00000585509.1_Silent_p.G192G|RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Silent_p.G251G|CYTH1_ENST00000589297.1_Silent_p.G192G			Q15438	CYH1_HUMAN	cytohesin 1	251					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.G251G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TGAGGTCATTCCCGTCGTCTT	0.413																																						uc002jvw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(751-753)GGG>GGT		cytohesin 1 isoform 2							191.0	177.0	182.0					17																	76694409		2203	4300	6503	SO:0001819	synonymous_variant	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76694409C>A	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.753G>T	17.37:g.76694409C>A						CYTH1_uc010wtw.1_Silent_p.G192G|CYTH1_uc010wtx.1_Silent_p.G192G	p.G251G	NM_017456	NP_059430	Q15438	CYH1_HUMAN			9	824	-			251					A6NFW7|B7Z1T4|Q9P123|Q9P124	Silent	SNP	ENST00000446868.3	37	c.753G>T																																																																																					PASS	0.413	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		56	116	56	116	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80037473	80037473	+	Silent	SNP	C	C	T	rs199781548	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr17:80037473C>T	ENST00000306749.2	-	42	7376	c.7158G>A	c.(7156-7158)gcG>gcA	p.A2386A	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2386	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A2386A(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCGGCAGCAGCGCCTCCAGCA	0.652													.|||	3	0.000599042	0.0023	0.0	5008	,	,		14327	0.0		0.0	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)	uc002kdu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(7156-7158)GCG>GCA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						18.0	19.0	19.0					17																	80037473		2187	4264	6451	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80037473C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7158G>A	17.37:g.80037473C>T						FASN_uc002kdv.1_RNA	p.A2386A	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		42	7275	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2386			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.7158G>A	CCDS11801.1																																																																																				PASS	0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		13	25	13	25	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28934436	28934436	+	Silent	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr18:28934436A>T	ENST00000257192.4	+	15	2489	c.2277A>T	c.(2275-2277)gcA>gcT	p.A759A	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.A118A	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	759					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.A759A(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGAAGTTGGCAGACATCAGCC	0.488																																						uc002kwp.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(2275-2277)GCA>GCT		desmoglein 1 preproprotein							118.0	116.0	117.0					18																	28934436		2203	4300	6503	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934436A>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2277A>T	18.37:g.28934436A>T						DSG1_uc010xbp.1_Silent_p.A118A	p.A759A	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2489	+			759			Cytoplasmic (Potential).		B7Z845	Silent	SNP	ENST00000257192.4	37	c.2277A>T	CCDS11896.1																																																																																				PASS	0.488	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		29	165	29	165	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28980857	28980857	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr18:28980857C>T	ENST00000308128.4	+	10	1426	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	DSG4_ENST00000359747.4_Missense_Mutation_p.H431Y|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H431Y(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATCATAGGGCATGATGCAGG	0.289																																						uc002kwq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(1291-1293)CAT>TAT		desmoglein 4 isoform 2 preproprotein							56.0	62.0	60.0					18																	28980857		2198	4290	6488	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28980857C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1291C>T	18.37:g.28980857C>T	ENSP00000311859:p.His431Tyr					DSG4_uc002kwr.2_Missense_Mutation_p.H431Y	p.H431Y	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		10	1426	+			431			Extracellular (Potential).|Cadherin 4.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1291C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386498	0.42308	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.60920	0.15;0.15	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.35708	N	0.003029	T	0.55924	0.1951	L	0.33137	0.985	0.33607	D	0.603113	P;B	0.43314	0.803;0.003	P;B	0.48952	0.596;0.026	T	0.67741	-0.5592	10	0.52906	T	0.07	.	12.8765	0.57994	0.0:0.9249:0.0:0.075	.	431;431	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	Y	431	ENSP00000311859:H431Y;ENSP00000352785:H431Y	ENSP00000311859:H431Y	H	+	1	0	DSG4	27234855	0.938000	0.31826	1.000000	0.80357	0.983000	0.72400	1.571000	0.36450	2.698000	0.92095	0.591000	0.81541	CAT		PASS	0.289	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		13	84	13	84	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31226214	31226214	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr18:31226214G>A	ENST00000269197.5	+	4	252	c.252G>A	c.(250-252)gaG>gaA	p.E84E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	84					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.E84E(1)|p.E84D(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACAGAAAGAGGAGTCGTCAT	0.383																																						uc010dmg.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)|pancreas(1)	3						c.(250-252)GAG>GAA		additional sex combs like 3							104.0	100.0	101.0					18																	31226214		1953	4157	6110	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31226214G>A	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.252G>A	18.37:g.31226214G>A						ASXL3_uc002kxq.2_5'UTR	p.E84E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			4	307	+			84					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.252G>A	CCDS45847.1																																																																																				PASS	0.383	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			24	76	24	76	---	---	---	---
KATNAL2	83473	broad.mit.edu	37	18	44580782	44580782	+	Missense_Mutation	SNP	C	C	T	rs181204080		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr18:44580782C>T	ENST00000245121.5	+	3	283	c.89C>T	c.(88-90)cCg>cTg	p.P30L	KATNAL2_ENST00000356157.7_Missense_Mutation_p.P102L|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.P30L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AATAATTTACCGCAAAGAAGT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		21417	0.001		0.0	False		,,,				2504	0.0					uc002lco.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(88-90)CCG>CTG		katanin p60 subunit A-like 2		C	LEU/PRO	0,4406		0,0,2203	166.0	179.0	174.0		89	3.8	0.8	18		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	KATNAL2	NM_031303.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	30/467	44580782	1,13005	2203	4300	6503	SO:0001583	missense	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44580782C>T	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.89C>T	18.37:g.44580782C>T	ENSP00000245121:p.Pro30Leu					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron	p.P30L	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			3	283	+			102						Missense_Mutation	SNP	ENST00000245121.5	37	c.89C>T	CCDS32828.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.38	1.621004	0.28889	0.0	1.16E-4	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93953	-3.32;-3.23	5.57	3.8	0.43715	.	0.824098	0.11169	N	0.592243	D	0.91226	0.7235	L	0.51422	1.61	0.22562	N	0.998988	.	.	.	.	.	.	T	0.83253	-0.0052	8	0.46703	T	0.11	-13.8033	5.1475	0.14993	0.1651:0.6634:0.0:0.1715	.	.	.	.	L	102;30	ENSP00000348478:P102L;ENSP00000245121:P30L	ENSP00000245121:P30L	P	+	2	0	KATNAL2	42834780	0.529000	0.26322	0.824000	0.32777	0.980000	0.70556	1.812000	0.38952	0.729000	0.32403	0.462000	0.41574	CCG		PASS	0.388	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		56	213	56	213	---	---	---	---
HMSD	284293	broad.mit.edu	37	18	61627505	61627505	+	Silent	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr18:61627505T>C	ENST00000408945.3	+	4	538	c.336T>C	c.(334-336)acT>acC	p.T112T	HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	112						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T112T(1)		kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						CTGATAAAACTAAAGGTGAAA	0.318																																						uc010dqj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)ACT>ACC		histocompatibility (minor) serpin domain							68.0	63.0	65.0					18																	61627505		1568	3582	5150	SO:0001819	synonymous_variant	284293					extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61627505T>C	AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.336T>C	18.37:g.61627505T>C						SERPINB8_uc002ljs.1_5'UTR	p.T112T	NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN			4	485	+			112						Silent	SNP	ENST00000408945.3	37	c.336T>C	CCDS42441.1																																																																																				PASS	0.318	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134010.2	XM_209104		8	31	8	31	---	---	---	---
CBLN2	147381	broad.mit.edu	37	18	70205524	70205524	+	Missense_Mutation	SNP	C	C	A	rs561391409		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr18:70205524C>A	ENST00000269503.4	-	5	1335	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L	CBLN2_ENST00000584764.1_Missense_Mutation_p.V72L|CBLN2_ENST00000585159.1_Missense_Mutation_p.V188L|CBLN2_ENST00000581073.1_Missense_Mutation_p.V74L|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	188	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)		p.V188L(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AGCAGCAGCACGCCATTGCTA	0.507																																						uc002lku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GTG>TTG		cerebellin 2 precursor							121.0	114.0	116.0					18																	70205524		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70205524C>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.562G>T	18.37:g.70205524C>A	ENSP00000269503:p.Val188Leu					CBLN2_uc002lkv.2_Missense_Mutation_p.V188L	p.V188L	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			4	797	-		Esophageal squamous(42;0.131)	188			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.562G>T	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021762	0.54576	.	.	ENSG00000141668	ENST00000269503	T	0.78003	-1.14	5.52	5.52	0.82312	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.063273	0.64402	D	0.000008	D	0.84370	0.5457	L	0.45228	1.405	0.80722	D	1	D	0.60575	0.988	D	0.64506	0.926	D	0.85287	0.1065	10	0.87932	D	0	-28.7184	19.8024	0.96513	0.0:1.0:0.0:0.0	.	188	Q8IUK8	CBLN2_HUMAN	L	188	ENSP00000269503:V188L	ENSP00000269503:V188L	V	-	1	0	CBLN2	68356504	1.000000	0.71417	0.735000	0.30896	0.848000	0.48234	7.769000	0.85360	2.752000	0.94435	0.655000	0.94253	GTG		PASS	0.507	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		37	119	37	119	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76754091	76754091	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr18:76754091G>T	ENST00000537592.2	+	2	2100	c.2100G>T	c.(2098-2100)acG>acT	p.T700T	SALL3_ENST00000536229.3_Silent_p.T567T|SALL3_ENST00000575389.2_Silent_p.T700T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	700					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.T700T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACTACCGGACGCACACGGGGG	0.632																																						uc002lmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2098-2100)ACG>ACT		sal-like 3							32.0	31.0	32.0					18																	76754091		2202	4299	6501	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754091G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2100G>T	18.37:g.76754091G>T						SALL3_uc010dra.2_Silent_p.T307T	p.T700T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2100	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	700			C2H2-type 3.		Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2100G>T	CCDS12013.1																																																																																				PASS	0.632	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		5	38	5	38	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1820350	1820350	+	Silent	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:1820350G>A	ENST00000170168.4	-	6	2533	c.2439C>T	c.(2437-2439)gtC>gtT	p.V813V	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	813						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.V813V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TGACGGTGGGGACTTTGCCCC	0.552																																						uc002lua.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2437-2439)GTC>GTT		transcription elongation factor B polypeptide 3							96.0	93.0	94.0					19																	1820350		2203	4300	6503	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1820350G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2439C>T	19.37:g.1820350G>A						REXO1_uc010dsq.2_Silent_p.V122V|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_5'Flank|uc002lub.1_5'Flank	p.V813V	NM_020695	NP_065746	Q8N1G1	REXO1_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)	6	2534	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	813					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2439C>T	CCDS32866.1																																																																																				PASS	0.552	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		34	82	34	82	---	---	---	---
MATK	4145	broad.mit.edu	37	19	3778348	3778348	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:3778348C>G	ENST00000310132.6	-	14	1755	c.1357G>C	c.(1357-1359)Gtg>Ctg	p.V453L	MATK_ENST00000585778.1_Missense_Mutation_p.V452L|MATK_ENST00000395045.2_Missense_Mutation_p.V454L|MATK_ENST00000395040.2_Missense_Mutation_p.V412L	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.V454L(1)|p.V453L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACGTGCACGGGGCCTGGA	0.697																																						uc002lyt.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(1357-1359)GTG>CTG		megakaryocyte-associated tyrosine kinase isoform							27.0	33.0	31.0					19																	3778348		2203	4293	6496	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3778348C>G	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1357G>C	19.37:g.3778348C>G	ENSP00000308734:p.Val453Leu					MATK_uc002lyv.2_Missense_Mutation_p.V454L|MATK_uc002lyu.2_Missense_Mutation_p.V412L|MATK_uc010dtq.2_Missense_Mutation_p.V452L	p.V453L	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1757	-		Hepatocellular(1079;0.137)	453			Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.1357G>C	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	C	2.178	-0.388182	0.04932	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.81659	-1.52;-1.52;-1.52	3.68	-0.0265	0.13930	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.308822	0.25601	N	0.029558	T	0.47507	0.1449	N	0.02192	-0.645	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.14578	0.007;0.011;0.007	T	0.46414	-0.9193	10	0.02654	T	1	-23.333	6.8013	0.23752	0.0:0.523:0.0:0.477	.	453;454;453	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	L	454;453;412	ENSP00000378485:V454L;ENSP00000308734:V453L;ENSP00000378481:V412L	ENSP00000308734:V453L	V	-	1	0	MATK	3729348	0.000000	0.05858	0.000000	0.03702	0.539000	0.34962	-0.144000	0.10280	-0.118000	0.11851	0.561000	0.74099	GTG		PASS	0.697	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		9	47	9	47	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9065628	9065628	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:9065628C>G	ENST00000397910.4	-	3	22021	c.21818G>C	c.(21817-21819)gGt>gCt	p.G7273A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7275	Ser-rich.|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.G7273A(2)|p.G2906A(1)		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						AGTAGTAGCACCAATGGACAC	0.488																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21817-21819)GGT>GCT		mucin 16							138.0	133.0	134.0					19																	9065628		2008	4175	6183	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065628C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21818G>C	19.37:g.9065628C>G	ENSP00000381008:p.Gly7273Ala						p.G7273A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22022	-			7275			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21818G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.430	-0.116377	0.06881	.	.	ENSG00000181143	ENST00000397910	T	0.03413	3.94	2.82	-5.64	0.02466	.	.	.	.	.	T	0.02418	0.0074	L	0.29908	0.895	.	.	.	B	0.16603	0.018	B	0.12837	0.008	T	0.44711	-0.9310	8	0.87932	D	0	.	1.249	0.01978	0.1295:0.217:0.2786:0.375	.	7273	B5ME49	.	A	7273	ENSP00000381008:G7273A	ENSP00000381008:G7273A	G	-	2	0	MUC16	8926628	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-4.731000	0.00193	-2.142000	0.00804	0.195000	0.17529	GGT		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		36	102	36	102	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12433494	12433494	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:12433494T>C	ENST00000293725.5	-	2	240	c.35A>G	c.(34-36)aAc>aGc	p.N12S	ZNF563_ENST00000595977.1_Missense_Mutation_p.N12S	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	12	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)	p.N12S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGGGTGAAGTTCACAGCCAC	0.438																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)AAC>AGC		zinc finger protein 563							106.0	99.0	101.0					19																	12433494		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12433494T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.35A>G	19.37:g.12433494T>C	ENSP00000293725:p.Asn12Ser					ZNF563_uc002mtq.2_Missense_Mutation_p.N12S	p.N12S	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			2	273	-			12			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.35A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494594	0.64186	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.01647	4.71	1.27	1.27	0.21489	Krueppel-associated box (4);	.	.	.	.	T	0.04861	0.0131	L	0.55990	1.75	0.27034	N	0.964164	D;D	0.69078	0.996;0.997	P;P	0.61070	0.883;0.814	T	0.36768	-0.9734	9	0.44086	T	0.13	.	6.2981	0.21097	0.0:0.0:0.0:1.0	.	12;12	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	S	12	ENSP00000293725:N12S	ENSP00000293725:N12S	N	-	2	0	ZNF563	12294494	0.993000	0.37304	0.986000	0.45419	0.792000	0.44763	1.715000	0.37971	0.554000	0.29061	0.254000	0.18369	AAC		PASS	0.438	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		4	103	4	103	---	---	---	---
SYCE2	256126	broad.mit.edu	37	19	13029085	13029085	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:13029085G>T	ENST00000293695.7	-	2	100	c.82C>A	c.(82-84)Ccg>Acg	p.P28T	MIR5695_ENST00000579717.1_RNA	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	28					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.P28T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCCACCGCGGATGCTCCTTG	0.627																																						uc002mvr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)CCG>ACG		synaptonemal complex central element protein 2							82.0	90.0	87.0					19																	13029085		2114	4229	6343	SO:0001583	missense	256126				cell division	central element		g.chr19:13029085G>T	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.82C>A	19.37:g.13029085G>T	ENSP00000293695:p.Pro28Thr						p.P28T	NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN			2	97	-			28					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.82C>A	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	G	5.734	0.319967	0.10845	.	.	ENSG00000161860	ENST00000293695	.	.	.	3.22	2.18	0.27775	.	2.100700	0.02635	N	0.104713	T	0.32376	0.0827	L	0.29908	0.895	0.09310	N	1	B	0.21905	0.062	B	0.24269	0.052	T	0.17048	-1.0382	9	0.21014	T	0.42	-2.6103	5.9934	0.19480	0.1428:0.0:0.8572:0.0	.	28	Q6PIF2	SYCE2_HUMAN	T	28	.	ENSP00000293695:P28T	P	-	1	0	SYCE2	12890085	0.005000	0.15991	0.155000	0.22561	0.049000	0.14656	1.566000	0.36396	0.933000	0.37291	0.561000	0.74099	CCG		PASS	0.627	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		25	58	25	58	---	---	---	---
ARMC6	93436	broad.mit.edu	37	19	19162527	19162527	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:19162527G>T	ENST00000535612.1	+	5	808	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	ARMC6_ENST00000392336.3_Missense_Mutation_p.A126S|ARMC6_ENST00000269932.6_Missense_Mutation_p.A101S|ARMC6_ENST00000546344.1_Missense_Mutation_p.A33S|ARMC6_ENST00000392335.2_Missense_Mutation_p.A101S	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	126					hematopoietic progenitor cell differentiation (GO:0002244)			p.A126S(1)|p.A101S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ACAGGACAAGGCCTGCCGCTT	0.637																																						uc002nld.2																			2	Substitution - Missense(2)		lung(2)		0						c.(376-378)GCC>TCC		armadillo repeat containing 6							72.0	69.0	70.0					19																	19162527		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162527G>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.376G>T	19.37:g.19162527G>T	ENSP00000444156:p.Ala126Ser					ARMC6_uc002nlc.2_Missense_Mutation_p.A101S|ARMC6_uc010xql.1_Missense_Mutation_p.A33S|ARMC6_uc002nle.2_Missense_Mutation_p.A101S|ARMC6_uc010xqm.1_Missense_Mutation_p.A126S	p.A126S	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	724	+			126					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.376G>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114476	0.37339	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000541725;ENST00000269932;ENST00000546344;ENST00000540792;ENST00000541898;ENST00000535288;ENST00000538663;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.08	0.311	0.15831	Armadillo-like helical (1);Armadillo-type fold (1);	0.229318	0.44285	N	0.000465	T	0.42720	0.1215	M	0.74389	2.26	0.23524	N	0.997497	P	0.49090	0.919	B	0.40375	0.327	T	0.44817	-0.9303	10	0.22109	T	0.4	-4.1254	11.4618	0.50215	0.0:0.396:0.4777:0.1262	.	126	Q6NXE6	ARMC6_HUMAN	S	101;126;101;126;101;33;101;101;33;101;37;126	ENSP00000376147:A101S;ENSP00000444156:A126S;ENSP00000441948:A101S;ENSP00000269932:A101S;ENSP00000444341:A33S;ENSP00000446037:A101S;ENSP00000437580:A33S;ENSP00000376148:A126S	ENSP00000269932:A101S	A	+	1	0	ARMC6	19023527	0.997000	0.39634	0.030000	0.17652	0.657000	0.38888	3.569000	0.53827	-0.076000	0.12775	-0.502000	0.04539	GCC		PASS	0.637	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		26	69	26	69	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155968	22155968	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:22155968G>T	ENST00000397126.4	-	4	2016	c.1868C>A	c.(1867-1869)aCc>aAc	p.T623N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	623					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.T523N(2)|p.T623N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGTAAGGGTTGAGACCTT	0.363																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(1567-1569)ACC>AAC		zinc finger protein 208							72.0	78.0	76.0					19																	22155968		2112	4251	6363	SO:0001583	missense	7757							g.chr19:22155968G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1868C>A	19.37:g.22155968G>T	ENSP00000380315:p.Thr623Asn					ZNF208_uc002nqo.1_Intron	p.T523N	NM_007153	NP_009084					5	1717	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1568C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.976503	0.00452	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35421	1.31	2.66	-5.31	0.02730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12092	0.0294	.	.	.	0.09310	N	1	P	0.36974	0.576	B	0.32533	0.147	T	0.21965	-1.0230	8	0.11485	T	0.65	.	0.9238	0.01321	0.2013:0.2989:0.2617:0.2382	.	523	O43345	ZN208_HUMAN	N	623;523	ENSP00000380315:T623N	ENSP00000380315:T623N	T	-	2	0	ZNF208	21947808	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.783000	0.00186	-2.029000	0.00930	-2.137000	0.00340	ACC		PASS	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		15	87	15	87	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364110	22364110	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:22364110C>G	ENST00000397121.2	-	3	726	c.409G>C	c.(409-411)Gga>Cga	p.G137R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	137					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.G137R(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCTTTCTCTCCAGTATGCCTT	0.323																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GGA>CGA		zinc finger protein 676							121.0	118.0	119.0					19																	22364110		2028	4202	6230	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364110C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.409G>C	19.37:g.22364110C>G	ENSP00000380310:p.Gly137Arg						p.G137R	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	727	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	137					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.409G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.915	0.352949	0.11182	.	.	ENSG00000196109	ENST00000397121	T	0.35605	1.3	0.601	0.601	0.17529	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27454	0.0674	L	0.46819	1.47	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.26224	-1.0109	9	0.51188	T	0.08	.	4.8006	0.13294	0.0:0.7452:0.0:0.2548	.	137	Q8N7Q3	ZN676_HUMAN	R	137	ENSP00000380310:G137R	ENSP00000380310:G137R	G	-	1	0	ZNF676	22155950	0.001000	0.12720	0.010000	0.14722	0.061000	0.15899	0.797000	0.26999	0.622000	0.30249	0.186000	0.17326	GGA		PASS	0.323	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		21	134	21	134	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22939855	22939855	+	IGR	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:22939855T>C	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.R826G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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.R826G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GATTTCTCCCTAGTATGAATT	0.373																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2476-2478)AGG>GGG		zinc finger protein 99							84.0	94.0	91.0					19																	22939855		2068	4231	6299	SO:0001628	intergenic_variant	7652							g.chr19:22939855T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939855T>C							p.R826G	NM_001080409	NP_001073878					6	2476	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2476A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.473029	0.00167	.	.	ENSG00000213973	ENST00000397104	T	0.11495	2.77	1.37	-2.74	0.05932	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	N	0.00808	-1.17	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40850	-0.9541	9	0.02654	T	1	.	7.4792	0.27395	0.0:0.3109:0.0:0.6891	.	826	A8MXY4	ZNF99_HUMAN	G	826	ENSP00000380293:R826G	ENSP00000380293:R826G	R	-	1	2	ZNF99	22731695	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.322000	0.19576	-1.103000	0.03019	-1.223000	0.01593	AGG		PASS	0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		33	144	33	144	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039105	31039105	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:31039105C>T	ENST00000355537.3	+	4	2726	c.2579C>T	c.(2578-2580)aCa>aTa	p.T860I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	860					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.T860I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCAGTGGACATCAGGGGTT	0.577																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2578-2580)ACA>ATA		zinc finger protein 536							64.0	69.0	67.0					19																	31039105		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039105C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2579C>T	19.37:g.31039105C>T	ENSP00000347730:p.Thr860Ile					ZNF536_uc010edd.1_Missense_Mutation_p.T860I	p.T860I	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2717	+	Esophageal squamous(110;0.0834)		860					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2579C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.654	0.898916	0.17686	.	.	ENSG00000198597	ENST00000355537	T	0.08546	3.08	5.73	5.73	0.89815	.	0.202935	0.52532	D	0.000062	T	0.08758	0.0217	N	0.24115	0.695	0.46336	D	0.998995	B;B	0.27559	0.181;0.181	B;B	0.24006	0.05;0.05	T	0.21211	-1.0252	10	0.62326	D	0.03	-5.3788	19.882	0.96901	0.0:1.0:0.0:0.0	.	860;860	A7E228;O15090	.;ZN536_HUMAN	I	860	ENSP00000347730:T860I	ENSP00000347730:T860I	T	+	2	0	ZNF536	35730945	1.000000	0.71417	0.785000	0.31869	0.649000	0.38597	7.474000	0.81024	2.714000	0.92807	0.591000	0.81541	ACA		PASS	0.577	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		25	104	25	104	---	---	---	---
USF2	7392	broad.mit.edu	37	19	35761435	35761436	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:35761435_35761436CG>AT	ENST00000222305.3	+	5	552_553	c.515_516CG>AT	c.(514-516)gCG>gAT	p.A172D	USF2_ENST00000595068.1_Missense_Mutation_p.A172D|USF2_ENST00000379134.3_Intron|USF2_ENST00000594064.1_Missense_Mutation_p.A170D|USF2_ENST00000343550.5_Missense_Mutation_p.A105D	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	172					lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A172A(1)|p.A172D(1)|p.A172E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TATTTCCCAGCGTCCAGTGTGG	0.599																																					NSCLC(103;173 2832 8890)	uc002nyq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(514-516)GCG>GAG|c.(514-516)GCG>GCT		upstream stimulatory factor 2 isoform 1																																				SO:0001583	missense	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35761435C>A|g.chr19:35761436G>T	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		Exception_encountered	19.37:g.35761435_35761436delinsAT	ENSP00000222305:p.Ala172Asp					USF2_uc010xss.1_Missense_Mutation_p.A172E|USF2_uc002nyr.1_Missense_Mutation_p.A105E|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR|USF2_uc010xss.1_Silent_p.A172A|USF2_uc002nyr.1_Silent_p.A105A|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR	p.A172E|p.A172A	NM_003367	NP_003358	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	624|625	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		172					O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Missense_Mutation|Silent	SNP	ENST00000222305.3	37	c.515C>A|c.516G>T	CCDS12452.1																																																																																				PASS	0.599	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367		28|27	63|62	27	62	---	---	---	---
APLP1	333	broad.mit.edu	37	19	36367439	36367439	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:36367439G>T	ENST00000221891.4	+	11	1557	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	APLP1_ENST00000586861.1_Silent_p.V449V|APLP1_ENST00000537454.2_Silent_p.V416V|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	455	Collagen-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.V455V(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCTTCAAGTGATTGAGGAGA	0.552																																						uc002oce.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1363-1365)GTG>GTT		amyloid precursor-like protein 1 isoform 2							107.0	89.0	95.0					19																	36367439		2203	4300	6503	SO:0001819	synonymous_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36367439G>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1365G>T	19.37:g.36367439G>T						APLP1_uc010xsz.1_Silent_p.V416V|APLP1_uc002ocf.2_Silent_p.V455V|APLP1_uc002ocg.2_Silent_p.V358V|APLP1_uc010xta.1_Silent_p.V449V	p.V455V	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		11	1503	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		455			Extracellular (Potential).|Collagen-binding (By similarity).		O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	c.1365G>T	CCDS32997.1																																																																																				PASS	0.552	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		18	62	18	62	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38610204	38610204	+	Silent	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:38610204C>G	ENST00000222345.6	+	9	3059	c.2550C>G	c.(2548-2550)acC>acG	p.T850T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	850					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.T850T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCCCTGACCTCCAAGAAGA	0.612																																						uc002ohk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2548-2550)ACC>ACG		signal-induced proliferation-associated 1 like							63.0	60.0	61.0					19																	38610204		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610204C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2550C>G	19.37:g.38610204C>G							p.T850T	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3059	+			850					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.2550C>G	CCDS33007.1																																																																																				PASS	0.612	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		11	39	11	39	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41235273	41235273	+	Silent	SNP	G	G	T	rs201169443		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:41235273G>T	ENST00000263370.2	+	3	1455	c.1422G>T	c.(1420-1422)ctG>ctT	p.L474L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	474					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.L474L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AAGACCTCCTGGCTGACTTTG	0.612																																						uc002oot.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1420-1422)CTG>CTT		inositol 1,4,5-trisphosphate 3-kinase C							49.0	45.0	46.0					19																	41235273		2203	4300	6503	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41235273G>T	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1422G>T	19.37:g.41235273G>T							p.L474L	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1455	+			474					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.1422G>T	CCDS12563.1																																																																																				PASS	0.612	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		8	33	8	33	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41932672	41932672	+	IGR	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:41932672G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.P4P|B3GNT8_ENST00000601379.1_Intron|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.P4P(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GAAGGCACTTGGGGCAGCGCA	0.672																																						uc002oqs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)CCC>CCT		UDP-GlcNAc:betaGal							19.0	23.0	22.0					19																	41932672		2196	4294	6490	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932672G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932672G>A						CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	p.P4P	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			3	466	-			4			Cytoplasmic (Potential).		B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.12C>T	CCDS12581.1																																																																																				PASS	0.672	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		8	59	8	59	---	---	---	---
CEACAM4	1089	broad.mit.edu	37	19	42132287	42132287	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:42132287T>C	ENST00000221954.2	-	2	222	c.112A>G	c.(112-114)Att>Gtt	p.I38V	CEACAM4_ENST00000600925.1_Missense_Mutation_p.I38V	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	38	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.I38V(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AGGGCTTCAATAGTGAACTGG	0.498																																						uc002orh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)ATT>GTT		carcinoembryonic antigen-related cell adhesion							74.0	77.0	76.0					19																	42132287		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132287T>C	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.112A>G	19.37:g.42132287T>C	ENSP00000221954:p.Ile38Val					CEACAM4_uc010xwd.1_Missense_Mutation_p.I38V	p.I38V	NM_001817	NP_001808	O75871	CEAM4_HUMAN			2	223	-			38			Extracellular (Potential).|Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.112A>G	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	T	8.348	0.830256	0.16749	.	.	ENSG00000105352	ENST00000221954	T	0.01665	4.7	1.76	-0.458	0.12182	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03220	0.0094	M	0.63428	1.95	0.09310	N	1	B;B	0.32245	0.327;0.361	B;B	0.42692	0.395;0.333	T	0.43589	-0.9382	9	0.30854	T	0.27	.	4.1395	0.10186	0.0:0.4361:0.0:0.5639	.	38;38	E7EMX3;O75871	.;CEAM4_HUMAN	V	38	ENSP00000221954:I38V	ENSP00000221954:I38V	I	-	1	0	CEACAM4	46824127	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.731000	0.04909	-0.192000	0.10432	0.172000	0.16884	ATT		PASS	0.498	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		39	105	39	105	---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42583419	42583419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:42583419C>T	ENST00000600245.1	+	2	1316	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Q221*|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Q311*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	221					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.Q221*(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGAGTGCTCCCAGCTCTTCCA	0.622																																						uc002osm.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(661-663)CAG>TAG		zinc finger protein 574							71.0	73.0	72.0					19																	42583419		2203	4300	6503	SO:0001587	stop_gained	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583419C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.661C>T	19.37:g.42583419C>T	ENSP00000469029:p.Gln221*					ZNF574_uc002osk.3_Nonsense_Mutation_p.Q311*	p.Q221*	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	830	+		Prostate(69;0.059)	221			C2H2-type 4.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Nonsense_Mutation	SNP	ENST00000600245.1	37	c.661C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558329	0.86231	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	.	.	.	4.7	4.7	0.59300	.	0.090291	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.283	16.5527	0.84476	0.0:1.0:0.0:0.0	.	.	.	.	X	311;221	.	ENSP00000222339:Q311X	Q	+	1	0	ZNF574	47275259	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	5.199000	0.65152	2.434000	0.82447	0.591000	0.81541	CAG		PASS	0.622	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		34	100	34	100	---	---	---	---
LIPE	3991	broad.mit.edu	37	19	42910529	42910529	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:42910529C>G	ENST00000244289.4	-	7	2425	c.2149G>C	c.(2149-2151)Gaa>Caa	p.E717Q	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	717					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.E717Q(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGATTCGTTCCCCTGTTGAG	0.642																																						uc002otr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2149-2151)GAA>CAA		hormone-sensitive lipase							46.0	45.0	45.0					19																	42910529		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910529C>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2149G>C	19.37:g.42910529C>G	ENSP00000244289:p.Glu717Gln					uc010eif.1_Intron	p.E717Q	NM_005357	NP_005348	Q05469	LIPS_HUMAN			7	2426	-		Prostate(69;0.00682)	717					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.2149G>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979054	0.74360	.	.	ENSG00000079435	ENST00000244289	T	0.11821	2.74	4.74	4.74	0.60224	Alpha/beta hydrolase fold-3 (1);	0.141727	0.44285	D	0.000464	T	0.26882	0.0658	M	0.63208	1.945	0.51482	D	0.999925	P	0.42692	0.787	P	0.52031	0.688	T	0.00673	-1.1616	10	0.54805	T	0.06	-15.1655	13.3754	0.60736	0.0:0.8406:0.1594:0.0	.	717	Q05469	LIPS_HUMAN	Q	717	ENSP00000244289:E717Q	ENSP00000244289:E717Q	E	-	1	0	LIPE	47602369	1.000000	0.71417	0.632000	0.29296	0.971000	0.66376	5.142000	0.64820	2.367000	0.80283	0.579000	0.79373	GAA		PASS	0.642	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		13	36	13	36	---	---	---	---
EML2	24139	broad.mit.edu	37	19	46136217	46136217	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:46136217G>A	ENST00000245925.3	-	6	462	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	EML2_ENST00000589876.1_Missense_Mutation_p.H138Y|EML2_ENST00000587152.1_Missense_Mutation_p.H339Y|EML2_ENST00000536630.1_Missense_Mutation_p.H285Y|EML2_ENST00000586902.1_5'Flank	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	138	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.H138Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ATGCGCACGTGGGGCGGCAGC	0.602																																						uc002pcn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(412-414)CAC>TAC		echinoderm microtubule associated protein like							125.0	97.0	107.0					19																	46136217		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46136217G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.412C>T	19.37:g.46136217G>A	ENSP00000245925:p.His138Tyr					EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.H22Y|EML2_uc010xxl.1_Missense_Mutation_p.H285Y|EML2_uc010xxm.1_Missense_Mutation_p.H339Y|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.H138Y|EML2_uc010ekj.2_Missense_Mutation_p.H138Y|EML2_uc010ekk.1_5'Flank	p.H138Y	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	6	447	-		Ovarian(192;0.179)|all_neural(266;0.224)	138			WD 1.		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.412C>T	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127033	0.77549	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.28069	1.63;1.76;5.03	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.75777	2.31	0.80722	D	1	D;D;P;P;D	0.76494	0.999;0.995;0.489;0.954;0.995	D;P;B;B;P	0.66351	0.943;0.852;0.271;0.444;0.852	T	0.49934	-0.8886	10	0.34782	T	0.22	-23.2082	15.7695	0.78157	0.0:0.0:1.0:0.0	.	138;304;285;296;138	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	Y	285;138;339;296	ENSP00000442365:H285Y;ENSP00000245925:H138Y;ENSP00000382503:H296Y	ENSP00000245925:H138Y	H	-	1	0	EML2	50828057	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.239000	0.78182	2.567000	0.86603	0.563000	0.77884	CAC		PASS	0.602	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		14	50	14	50	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50099655	50099655	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:50099655A>G	ENST00000418929.2	+	4	2075	c.2063A>G	c.(2062-2064)tAc>tGc	p.Y688C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.Y688C(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)		GGTACACCCTACGAGTTGGCC	0.682																																						uc002poo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(2062-2064)TAC>TGC		proline rich 12							14.0	17.0	16.0					19																	50099655		1935	4099	6034	SO:0001583	missense	57479						DNA binding	g.chr19:50099655A>G	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.2063A>G	19.37:g.50099655A>G	ENSP00000394510:p.Tyr688Cys						p.Y688C	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2063	+		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.2063A>G	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.325058	0.24080	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	T	0.75213	0.3819	.	.	.	0.40406	D	0.979703	D	0.76494	0.999	D	0.64237	0.923	T	0.79468	-0.1791	7	0.72032	D	0.01	.	12.2336	0.54503	1.0:0.0:0.0:0.0	.	688	Q9ULL5-3	.	C	688	.	ENSP00000394510:Y688C	Y	+	2	0	PRR12	54791467	0.998000	0.40836	0.882000	0.34594	0.880000	0.50808	2.259000	0.43259	1.603000	0.50134	0.260000	0.18958	TAC		PASS	0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		6	19	6	19	---	---	---	---
SIGLEC7	27036	broad.mit.edu	37	19	51647760	51647760	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:51647760G>T	ENST00000317643.6	+	2	600	c.531G>T	c.(529-531)ggG>ggT	p.G177G	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	177	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G177G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GTGAGCAGGGGACGCCCCCTA	0.647																																						uc002pvv.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(529-531)GGG>GGT		sialic acid binding Ig-like lectin 7 isoform 1							123.0	120.0	121.0					19																	51647760		2203	4300	6503	SO:0001819	synonymous_variant	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647760G>T	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.531G>T	19.37:g.51647760G>T						SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	p.G177G	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	600	+		all_neural(266;0.0199)	177			Ig-like C2-type 1.|Extracellular (Potential).		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	c.531G>T	CCDS12826.1																																																																																				PASS	0.647	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		33	142	33	142	---	---	---	---
CD33	945	broad.mit.edu	37	19	51728798	51728798	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:51728798A>G	ENST00000262262.4	+	2	383	c.362A>G	c.(361-363)gAg>gGg	p.E121G	CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.E121G|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	121	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E121G(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTTCGGATGGAGAGAGGAAGT	0.532																																						uc002pwa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)GAG>GGG		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						50.0	52.0	51.0					19																	51728798		2203	4298	6501	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728798A>G	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.362A>G	19.37:g.51728798A>G	ENSP00000262262:p.Glu121Gly					CD33_uc010eos.1_Missense_Mutation_p.E121G|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.E121G	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	402	+		all_neural(266;0.0199)	121			Extracellular (Potential).|Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.362A>G	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	15.17	2.755352	0.49362	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.65364	-0.15;1.93	3.34	-0.533	0.11887	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261705	0.19970	U	0.102009	T	0.74733	0.3755	H	0.94183	3.505	0.09310	N	1	P;P	0.47545	0.874;0.897	P;P	0.52066	0.562;0.689	T	0.67968	-0.5533	10	0.87932	D	0	.	6.7633	0.23552	0.4575:0.0:0.0:0.5425	.	121;121	F8WAL2;P20138	.;CD33_HUMAN	G	121	ENSP00000262262:E121G;ENSP00000375673:E121G	ENSP00000262262:E121G	E	+	2	0	CD33	56420610	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.379000	0.20585	-0.339000	0.08401	0.533000	0.62120	GAG		PASS	0.532	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		23	89	23	89	---	---	---	---
ZNF766	90321	broad.mit.edu	37	19	52793634	52793634	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:52793634G>T	ENST00000439461.1	+	4	633	c.590G>T	c.(589-591)aGa>aTa	p.R197I	ZNF766_ENST00000593612.1_Missense_Mutation_p.R212I|ZNF766_ENST00000359102.4_Missense_Mutation_p.R212I|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	197					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.R197I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AAAGTCTTCAGAGTGTCTTCA	0.413																																						uc002pyr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)AGA>ATA		zinc finger protein 766							93.0	93.0	93.0					19																	52793634		2044	4220	6264	SO:0001583	missense	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793634G>T	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.590G>T	19.37:g.52793634G>T	ENSP00000409652:p.Arg197Ile					ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Missense_Mutation_p.R212I	p.R197I	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	633	+			197			C2H2-type 1; degenerate.		B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	c.590G>T	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783007	0.16189	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.15139	2.46;2.45	2.38	-4.76	0.03229	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	N	0.21194	0.64	0.09310	N	1	P;P	0.38020	0.615;0.48	B;B	0.30401	0.115;0.054	T	0.19095	-1.0316	9	0.35671	T	0.21	.	6.9751	0.24670	0.2544:0.5531:0.1926:0.0	.	212;197	G3XAE0;Q5HY98	.;ZN766_HUMAN	I	197;212	ENSP00000409652:R197I;ENSP00000352005:R212I	ENSP00000352005:R212I	R	+	2	0	ZNF766	57485446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.267000	0.02839	-1.257000	0.02475	-0.181000	0.13052	AGA		PASS	0.413	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		20	152	20	152	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54313082	54313082	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:54313082A>T	ENST00000324134.6	-	3	1999	c.1831T>A	c.(1831-1833)Ttg>Atg	p.L611M	NLRP12_ENST00000391772.1_Missense_Mutation_p.L611M|NLRP12_ENST00000391775.3_Missense_Mutation_p.L611M|NLRP12_ENST00000354278.3_Missense_Mutation_p.L611M|NLRP12_ENST00000345770.5_Missense_Mutation_p.L611M|NLRP12_ENST00000351894.4_Missense_Mutation_p.L611M|NLRP12_ENST00000535162.1_Missense_Mutation_p.L611M|NLRP12_ENST00000391773.1_Missense_Mutation_p.L611M	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	611					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.L611M(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGAACTCCAAGGAGCCCTGC	0.567																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1831-1833)TTG>ATG		NLR family, pyrin domain containing 12 isoform							83.0	83.0	83.0					19																	54313082		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313082A>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1831T>A	19.37:g.54313082A>T	ENSP00000319377:p.Leu611Met					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.L611M|NLRP12_uc002qcj.3_Missense_Mutation_p.L611M|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L611M	p.L611M	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	2051	-	Ovarian(34;0.19)		611					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1831T>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407150	0.42715	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	4.05	-3.09	0.05331	.	0.000000	0.29924	N	0.010843	D	0.93956	0.8065	M	0.84511	2.7	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	D	0.91063	0.4887	10	0.44086	T	0.13	.	11.1604	0.48512	0.2863:0.0:0.7137:0.0	.	611;611;611;611	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	M	611	ENSP00000319377:L611M;ENSP00000438030:L611M;ENSP00000340473:L611M;ENSP00000346231:L611M;ENSP00000375655:L611M;ENSP00000375653:L611M;ENSP00000375652:L611M	ENSP00000319377:L611M	L	-	1	2	NLRP12	59004894	0.000000	0.05858	0.530000	0.27963	0.936000	0.57629	-0.994000	0.03716	-1.026000	0.03330	-0.607000	0.04081	TTG		PASS	0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		35	82	35	82	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54313593	54313593	+	Silent	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:54313593C>A	ENST00000324134.6	-	3	1488	c.1320G>T	c.(1318-1320)ctG>ctT	p.L440L	NLRP12_ENST00000391772.1_Silent_p.L440L|NLRP12_ENST00000391775.3_Silent_p.L440L|NLRP12_ENST00000354278.3_Silent_p.L440L|NLRP12_ENST00000345770.5_Silent_p.L440L|NLRP12_ENST00000351894.4_Silent_p.L440L|NLRP12_ENST00000535162.1_Silent_p.L440L|NLRP12_ENST00000391773.1_Silent_p.L440L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	440	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.L440L(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCATCAGACTCAGCAGGTAGA	0.632																																						uc002qch.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1318-1320)CTG>CTT		NLR family, pyrin domain containing 12 isoform							65.0	68.0	67.0					19																	54313593		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313593C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1320G>T	19.37:g.54313593C>A						NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.L440L|NLRP12_uc002qcj.3_Silent_p.L440L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.L440L	p.L440L	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1540	-	Ovarian(34;0.19)		440			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1320G>T	CCDS12864.1																																																																																				PASS	0.632	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		26	145	26	145	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54722671	54722671	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:54722671G>T	ENST00000391750.1	-	10	1599	c.1463C>A	c.(1462-1464)gCt>gAt	p.A488D	LILRB3_ENST00000245620.9_Missense_Mutation_p.A488D|LILRA6_ENST00000440558.2_Missense_Mutation_p.A488D|LILRA6_ENST00000270464.5_Missense_Mutation_p.A488D|LILRB3_ENST00000407860.2_Missense_Mutation_p.A505D|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.A488D|LILRB3_ENST00000346401.6_Missense_Mutation_p.A500D|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.A488D			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	488					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A488D(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCTCCGCAGCCCCTGCAGG	0.567																																						uc002qef.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1462-1464)GCT>GAT		leukocyte immunoglobulin-like receptor,							97.0	100.0	99.0					19																	54722671		2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54722671G>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1463C>A	19.37:g.54722671G>T	ENSP00000375630:p.Ala488Asp					LILRB3_uc002qee.1_Missense_Mutation_p.A488D|LILRB3_uc002qeh.1_Missense_Mutation_p.A488D|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.A488D|LILRA6_uc002qek.1_Missense_Mutation_p.A488D|LILRB3_uc010erh.1_Missense_Mutation_p.A505D|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.A488D|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.A488D|LILRB3_uc002qep.1_Missense_Mutation_p.A488D|LILRB3_uc002qeq.1_Missense_Mutation_p.A488D|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.A488D	p.A488D	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1574	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		488			Cytoplasmic (Potential).		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1463C>A	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372331	0.42003	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00572	6.56;6.56;6.49;6.57;6.61;6.56;6.58;6.61	2.67	1.59	0.23543	.	.	.	.	.	T	0.02119	0.0066	M	0.80982	2.52	0.09310	N	1	D;D;D;B;D;P;B	0.69078	0.997;0.981;0.984;0.087;0.991;0.885;0.04	D;P;P;B;P;P;B	0.67103	0.949;0.84;0.735;0.039;0.897;0.603;0.054	T	0.39643	-0.9604	9	0.87932	D	0	.	6.9586	0.24585	0.0:0.0:0.7276:0.2724	.	505;488;488;500;505;488;488	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	D	488;488;500;488;505;488;488;488	ENSP00000375630:A488D;ENSP00000412771:A488D;ENSP00000345184:A500D;ENSP00000245620:A488D;ENSP00000384274:A505D;ENSP00000390120:A488D;ENSP00000270464:A488D;ENSP00000411227:A488D	ENSP00000270464:A488D	A	-	2	0	LILRB3;LILRA6	59414483	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.468000	0.22051	0.694000	0.31654	0.289000	0.19496	GCT		PASS	0.567	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		29	83	29	83	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54758731	54758731	+	Silent	SNP	A	A	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:54758731A>G	ENST00000316219.5	-	6	1229	c.1122T>C	c.(1120-1122)taT>taC	p.Y374Y	LILRB5_ENST00000449561.2_Silent_p.Y374Y|LILRB5_ENST00000450632.1_Silent_p.Y365Y|LILRB5_ENST00000345866.6_Silent_p.Y274Y	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	374	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.Y374*(1)|p.Y365Y(1)|p.Y365*(1)|p.Y374Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGGTGTCTATAAGACTGGT	0.537																																						uc002qex.2																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)		lung(4)	ovary(1)|pancreas(1)	2						c.(1120-1122)TAT>TAC		leukocyte immunoglobulin-like receptor,							97.0	89.0	92.0					19																	54758731		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758731A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1122T>C	19.37:g.54758731A>G						LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.Y365Y|LILRB5_uc002qey.2_Silent_p.Y374Y|LILRB5_uc002qez.2_Silent_p.Y274Y|LILRB5_uc002qfa.1_Silent_p.Y264Y|LILRB5_uc010yes.1_RNA	p.Y374Y	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1233	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		374			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Silent	SNP	ENST00000316219.5	37	c.1122T>C	CCDS12885.1																																																																																				PASS	0.537	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			22	72	22	72	---	---	---	---
GP6	51206	broad.mit.edu	37	19	55530042	55530042	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:55530042G>C	ENST00000417454.1	-	6	729	c.702C>G	c.(700-702)ttC>ttG	p.F234L	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.F234L|GP6_ENST00000333884.2_Missense_Mutation_p.F216L	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	234					blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.F234L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CTTCGTTTGTGAATGAGACGG	0.458																																						uc002qik.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(700-702)TTC>TTG		glycoprotein VI (platelet) isoform 2							151.0	151.0	151.0					19																	55530042		1957	4144	6101	SO:0001583	missense	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55530042G>C	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.702C>G	19.37:g.55530042G>C	ENSP00000394922:p.Phe234Leu					GP6_uc002qil.2_Missense_Mutation_p.F234L|GP6_uc010esq.2_Missense_Mutation_p.F216L	p.F234L	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	6	730	-			234			Extracellular (Potential).		Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.702C>G	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	g	0.038	-1.296746	0.01364	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.00510	7.16;6.9;7.2	2.9	0.676	0.17958	.	.	.	.	.	T	0.00300	0.0009	N	0.12746	0.255	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41627	-0.9498	9	0.54805	T	0.06	.	4.8261	0.13417	0.3096:0.0:0.6904:0.0	.	216;234;234	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	L	234;234;216	ENSP00000394922:F234L;ENSP00000308782:F234L;ENSP00000334552:F216L	ENSP00000308782:F234L	F	-	3	2	GP6	60221854	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.805000	0.04530	0.198000	0.20407	0.655000	0.94253	TTC		PASS	0.458	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			58	128	58	128	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56419214	56419214	+	Silent	SNP	A	A	T	rs537430301		TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:56419214A>T	ENST00000342929.3	-	7	2390	c.2391T>A	c.(2389-2391)acT>acA	p.T797T	NLRP13_ENST00000588751.1_Silent_p.T797T	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	797							ATP binding (GO:0005524)	p.T797T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCAGGGGGACAGTCATTCCCA	0.498																																						uc010ygg.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2389-2391)ACT>ACA		NACHT, leucine rich repeat and PYD containing							145.0	129.0	135.0					19																	56419214		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56419214A>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2391T>A	19.37:g.56419214A>T							p.T797T	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	7	2416	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	797			LRR 2.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2391T>A	CCDS33119.1																																																																																				PASS	0.498	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		58	133	58	133	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56424444	56424444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:56424444G>A	ENST00000342929.3	-	5	738	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.Q247*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	247	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		Q -> R (in dbSNP:rs303997). {ECO:0000269|PubMed:12563287}.				ATP binding (GO:0005524)	p.Q247*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCATAGCCTGCATTGCCAAG	0.507																																						uc010ygg.1																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(739-741)CAG>TAG		NACHT, leucine rich repeat and PYD containing							106.0	106.0	106.0					19																	56424444		2203	4300	6503	SO:0001587	stop_gained	126204						ATP binding	g.chr19:56424444G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.739C>T	19.37:g.56424444G>A	ENSP00000343891:p.Gln247*						p.Q247*	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	764	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	247			NACHT.		Q7RTR5	Nonsense_Mutation	SNP	ENST00000342929.3	37	c.739C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973132	0.53614	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.81	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2555	0.20872	0.0:0.0:0.2668:0.7332	.	.	.	.	X	247	.	ENSP00000343891:Q247X	Q	-	1	0	NLRP13	61116256	0.941000	0.31946	0.004000	0.12327	0.086000	0.17979	2.706000	0.47135	0.290000	0.22444	-0.362000	0.07510	CAG		PASS	0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		45	141	45	141	---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133934	57133934	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr19:57133934G>A	ENST00000328070.6	+	3	1513	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	427					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.E427K(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTACCTCATCGAGCACCAGCG	0.642																																						uc002qnm.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1279-1281)GAG>AAG		zinc finger protein 71							77.0	65.0	69.0					19																	57133934		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133934G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1279G>A	19.37:g.57133934G>A	ENSP00000328245:p.Glu427Lys						p.E427K	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1517	+			427			C2H2-type 11.		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.1279G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150095	0.21371	.	.	ENSG00000197951	ENST00000328070	T	0.08193	3.12	3.82	2.75	0.32379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	N	0.01779	-0.725	0.09310	N	1	B	0.30179	0.271	B	0.26864	0.074	T	0.40194	-0.9576	9	0.06494	T	0.89	.	5.6534	0.17629	0.3128:0.0:0.6872:0.0	.	427	Q9NQZ8	ZNF71_HUMAN	K	427	ENSP00000328245:E427K	ENSP00000328245:E427K	E	+	1	0	ZNF71	61825746	0.000000	0.05858	0.992000	0.48379	0.785000	0.44390	-1.407000	0.02488	1.958000	0.56883	0.561000	0.74099	GAG		PASS	0.642	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		26	43	26	43	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961208	1961208	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:1961208C>A	ENST00000217305.2	-	4	751	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	PDYN_ENST00000539905.1_Missense_Mutation_p.G176W|PDYN_ENST00000540134.1_Missense_Mutation_p.G176W|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	176					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.G176W(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAAAAGCCCCCATAGCGTTTG	0.592																																						uc010gaj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(526-528)GGG>TGG		beta-neoendorphin-dynorphin preproprotein							101.0	104.0	103.0					20																	1961208		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961208C>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.526G>T	20.37:g.1961208C>A	ENSP00000217305:p.Gly176Trp					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G176W|PDYN_uc010zpt.1_Missense_Mutation_p.G21W	p.G176W	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	768	-			176					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.526G>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345905	0.82022	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.97688	-4.49;-4.49;-4.49	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	-31.7954	15.5233	0.75881	0.0:1.0:0.0:0.0	.	176	P01213	PDYN_HUMAN	W	176	ENSP00000440185:G176W;ENSP00000442259:G176W;ENSP00000217305:G176W	ENSP00000217305:G176W	G	-	1	0	PDYN	1909208	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.939000	0.70179	2.531000	0.85337	0.491000	0.48974	GGG		PASS	0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			28	86	28	86	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21492742	21492742	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:21492742G>T	ENST00000377142.4	-	2	997	c.641C>A	c.(640-642)cCa>cAa	p.P214Q	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	214					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P214Q(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGCGTGACATGGTTTGCCGTC	0.662																																						uc002wsi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(640-642)CCA>CAA		NK2 transcription factor related, locus 2							35.0	39.0	37.0					20																	21492742		2203	4300	6503	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492742G>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.641C>A	20.37:g.21492742G>T	ENSP00000366347:p.Pro214Gln						p.P214Q	NM_002509	NP_002500	O95096	NKX22_HUMAN			2	998	-			214						Missense_Mutation	SNP	ENST00000377142.4	37	c.641C>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772862	0.90108	.	.	ENSG00000125820	ENST00000377142	D	0.94046	-3.34	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96983	0.9716	10	0.59425	D	0.04	.	19.4854	0.95027	0.0:0.0:1.0:0.0	.	214	O95096	NKX22_HUMAN	Q	214	ENSP00000366347:P214Q	ENSP00000366347:P214Q	P	-	2	0	NKX2-2	21440742	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.856000	0.99531	2.596000	0.87737	0.462000	0.41574	CCA		PASS	0.662	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			10	57	10	57	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23728519	23728519	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:23728519G>C	ENST00000304749.2	-	3	430	c.360C>G	c.(358-360)ttC>ttG	p.F120L	CST1_ENST00000398402.1_Missense_Mutation_p.F120L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	120					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.F120L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGTAGATCTCGAAAGAGCACA	0.527																																						uc002wtp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)TTC>TTG		cystatin SN precursor							94.0	82.0	86.0					20																	23728519		2203	4300	6503	SO:0001583	missense	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23728519G>C	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.360C>G	20.37:g.23728519G>C	ENSP00000305731:p.Phe120Leu						p.F120L	NM_001898	NP_001889	P01037	CYTN_HUMAN			3	431	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		120					Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	c.360C>G	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151067	0.38021	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.14893	2.47;2.47	1.64	1.64	0.23874	Proteinase inhibitor I25, cystatin (2);	0.067445	0.64402	U	0.000011	T	0.36991	0.0987	M	0.79805	2.47	0.26068	N	0.981266	D	0.89917	1.0	D	0.97110	1.0	T	0.03231	-1.1058	10	0.62326	D	0.03	.	6.7978	0.23734	0.0:0.0:1.0:0.0	.	120	P01037	CYTN_HUMAN	L	120	ENSP00000305731:F120L;ENSP00000381439:F120L	ENSP00000305731:F120L	F	-	3	2	CST1	23676519	0.549000	0.26481	0.233000	0.24025	0.006000	0.05464	1.491000	0.35583	1.231000	0.43661	0.298000	0.19748	TTC		PASS	0.527	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		14	47	14	47	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23731327	23731327	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:23731327G>T	ENST00000304749.2	-	1	247	c.177C>A	c.(175-177)acC>acA	p.T59T	CST1_ENST00000398402.1_Silent_p.T59T	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	59					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.T59T(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AGTCATCTTTGGTGGCCTTGT	0.557																																						uc002wtp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(175-177)ACC>ACA		cystatin SN precursor							166.0	136.0	146.0					20																	23731327		2203	4300	6503	SO:0001819	synonymous_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23731327G>T	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.177C>A	20.37:g.23731327G>T							p.T59T	NM_001898	NP_001889	P01037	CYTN_HUMAN			1	248	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		59					Q96LE6|Q9UCQ6	Silent	SNP	ENST00000304749.2	37	c.177C>A	CCDS13160.1																																																																																				PASS	0.557	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		26	119	26	119	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31671440	31671440	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:31671440G>T	ENST00000375483.3	+	3	437	c.437G>T	c.(436-438)aGg>aTg	p.R146M		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	146	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.R107M(1)									CCTGTGGGCAGGCTTCACCGG	0.642																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)AGG>ATG		antimicrobial peptide RY2G5 precursor							50.0	50.0	50.0					20																	31671440		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671440G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.437G>T	20.37:g.31671440G>T	ENSP00000364632:p.Arg146Met						p.R146M	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	452	+			146			Gly-rich.		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.437G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210446	0.22289	.	.	ENSG00000186191	ENST00000375483	T	0.01548	4.78	3.28	3.28	0.37604	.	2.890020	0.01345	N	0.011692	T	0.06826	0.0174	L	0.32530	0.975	0.09310	N	1	D	0.61697	0.99	D	0.69142	0.962	T	0.45614	-0.9249	10	0.87932	D	0	-14.27	10.1994	0.43073	0.0:0.0:1.0:0.0	.	146	P59827	BPIB4_HUMAN	M	146	ENSP00000364632:R146M	ENSP00000364632:R146M	R	+	2	0	BPIFB4	31135101	0.212000	0.23540	0.015000	0.15790	0.049000	0.14656	2.297000	0.43593	1.827000	0.53221	0.462000	0.41574	AGG		PASS	0.642	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		45	79	45	79	---	---	---	---
SEMG1	6406	broad.mit.edu	37	20	43836508	43836508	+	Silent	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:43836508C>A	ENST00000372781.3	+	2	627	c.570C>A	c.(568-570)tcC>tcA	p.S190S	SEMG1_ENST00000244069.6_Silent_p.S190S	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	190	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.S190S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAGGCGGATCCCAAAGCAGTT	0.393																																						uc002xni.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(568-570)TCC>TCA		semenogelin I preproprotein							83.0	78.0	80.0					20																	43836508		2203	4300	6503	SO:0001819	synonymous_variant	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836508C>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.570C>A	20.37:g.43836508C>A						SEMG1_uc002xnj.2_Silent_p.S190S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.S190S	p.S190S	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	627	+		Myeloproliferative disorder(115;0.0122)	190			42 AA repeat 1.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.570C>A	CCDS13345.1																																																																																				PASS	0.393	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		35	52	35	52	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44664042	44664042	+	Splice_Site	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:44664042G>A	ENST00000454036.2	+	3	265		c.e3-1		SLC12A5_ENST00000372315.1_Splice_Site|SLC12A5_ENST00000608944.1_Splice_Site|SLC12A5_ENST00000243964.3_Splice_Site	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5						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.?(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)	TCCCTCCATAGGAGGAGATGG	0.592																																						uc010zxl.1																			1	Unknown(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.e3-1		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						128.0	141.0	137.0					20																	44664042		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44664042G>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.217-1G>A	20.37:g.44664042G>A						SLC12A5_uc002xra.2_Splice_Site_p.E50_splice|SLC12A5_uc010zxm.1_Splice_Site|SLC12A5_uc002xrb.2_Splice_Site_p.E50_splice	p.E73_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			3	293	+		Myeloproliferative disorder(115;0.0122)						A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP	ENST00000454036.2	37	c.217_splice	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275052	0.59649	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A5	44097449	1.000000	0.71417	0.995000	0.50966	0.579000	0.36224	9.193000	0.94954	2.494000	0.84150	0.563000	0.77884	.		PASS	0.592	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Intron	93	191	93	191	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50140386	50140386	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:50140386C>T	ENST00000396009.3	-	2	613	c.394G>A	c.(394-396)Gac>Aac	p.D132N	NFATC2_ENST00000371564.3_Missense_Mutation_p.D132N|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.D112N|NFATC2_ENST00000609943.1_Missense_Mutation_p.D112N|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	132	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D132N(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGCCCGCGTCTCTCATGCGG	0.736																																						uc002xwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(394-396)GAC>AAC		nuclear factor of activated T-cells,							14.0	16.0	15.0					20																	50140386		2176	4256	6432	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140386C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.394G>A	20.37:g.50140386C>T	ENSP00000379330:p.Asp132Asn					NFATC2_uc002xwc.2_Missense_Mutation_p.D132N|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Missense_Mutation_p.D112N|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Missense_Mutation_p.D112N	p.D132N	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	614	-	Hepatocellular(150;0.248)		132			Trans-activation domain A (TAD-A).		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.394G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916683	0.33815	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.74209	-0.82;-0.82;-0.82	5.61	5.61	0.85477	.	0.121477	0.64402	D	0.000010	D	0.83403	0.5247	L	0.47190	1.495	0.31371	N	0.680123	D;D;D;D	0.71674	0.997;0.997;0.998;0.998	D;D;D;D	0.79108	0.98;0.989;0.992;0.992	T	0.83301	-0.0028	10	0.62326	D	0.03	-29.2201	19.6231	0.95667	0.0:1.0:0.0:0.0	.	112;112;132;132	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	N	132;132;112	ENSP00000360619:D132N;ENSP00000379330:D132N;ENSP00000396471:D112N	ENSP00000360619:D132N	D	-	1	0	NFATC2	49573793	1.000000	0.71417	0.664000	0.29753	0.013000	0.08279	4.387000	0.59626	2.643000	0.89663	0.462000	0.41574	GAC		PASS	0.736	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		15	50	15	50	---	---	---	---
VAPB	9217	broad.mit.edu	37	20	57019265	57019265	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:57019265G>T	ENST00000475243.1	+	6	1044	c.706G>T	c.(706-708)Gta>Tta	p.V236L	VAPB_ENST00000395802.3_3'UTR|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	236					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)	p.V236L(1)		kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TATCGTTGGTGTAATTATTGG	0.453																																						uc002xza.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(706-708)GTA>TTA		VAMP-associated protein B/C							277.0	254.0	262.0					20																	57019265		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:57019265G>T	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.706G>T	20.37:g.57019265G>T	ENSP00000417175:p.Val236Leu					VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_Missense_Mutation_p.V113L|VAPB_uc002xzc.2_3'UTR	p.V236L	NM_004738	NP_004729	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		6	977	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		236			Helical; Anchor for type IV membrane protein; (Potential).		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.706G>T	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497928	0.64186	.	.	ENSG00000124164	ENST00000475243	T	0.68624	-0.34	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	L	0.45422	1.42	0.80722	D	1	D;P	0.61697	0.99;0.745	P;B	0.51945	0.685;0.192	T	0.60616	-0.7228	10	0.09084	T	0.74	-42.2214	18.479	0.90804	0.0:0.0:1.0:0.0	.	113;236	B4DNS4;O95292	.;VAPB_HUMAN	L	236	ENSP00000417175:V236L	ENSP00000417175:V236L	V	+	1	0	VAPB	56452671	1.000000	0.71417	0.183000	0.23137	0.972000	0.66771	5.883000	0.69721	2.793000	0.96121	0.655000	0.94253	GTA		PASS	0.453	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			70	277	70	277	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58415482	58415482	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:58415482A>C	ENST00000371015.1	+	10	1910	c.1443A>C	c.(1441-1443)agA>agC	p.R481S	PHACTR3_ENST00000395639.4_Missense_Mutation_p.R370S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R440S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R478S|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R370S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R440S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R440S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	481	Required for PP1CA binding and inhibition of PP1 activity.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R481S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GATTGACAAGAAAGGTAGTAT	0.363																																						uc002yau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1441-1443)AGA>AGC		phosphatase and actin regulator 3 isoform 1							122.0	116.0	118.0					20																	58415482		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58415482A>C	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1443A>C	20.37:g.58415482A>C	ENSP00000360054:p.Arg481Ser					PHACTR3_uc002yat.2_Missense_Mutation_p.R478S|PHACTR3_uc010zzw.1_Missense_Mutation_p.R440S|PHACTR3_uc002yav.2_Missense_Mutation_p.R440S|PHACTR3_uc002yaw.2_Missense_Mutation_p.R440S|PHACTR3_uc002yax.2_Missense_Mutation_p.R370S|PHACTR3_uc002yay.2_Missense_Mutation_p.R50S	p.R481S	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		10	1910	+	all_lung(29;0.00344)		481			Required for PP1CA binding and inhibition of PP1 activity.|Potential.|RPEL 4.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.1443A>C	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473190	0.43942	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.36699	1.55;1.49;1.24;1.57;1.57;1.57;1.24	5.55	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.997;0.994	T	0.53479	-0.8433	10	0.87932	D	0	-19.1618	5.0304	0.14407	0.6177:0.1436:0.2387:0.0	.	440;370;481;478	B1AN68;Q96KR7-3;Q96KR7;B1AKX0	.;.;PHAR3_HUMAN;.	S	478;481;370;440;440;440;370	ENSP00000353002:R478S;ENSP00000360054:R481S;ENSP00000379001:R370S;ENSP00000442483:R440S;ENSP00000347866:R440S;ENSP00000378998:R440S;ENSP00000354555:R370S	ENSP00000347866:R440S	R	+	3	2	PHACTR3	57848877	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	1.820000	0.39032	0.062000	0.16340	0.533000	0.62120	AGA		PASS	0.363	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		5	77	5	77	---	---	---	---
HRH3	11255	broad.mit.edu	37	20	60791306	60791306	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:60791306C>T	ENST00000340177.5	-	3	1378	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	HRH3_ENST00000317393.6_Missense_Mutation_p.S365N	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	365					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)	p.S365N(1)		breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	CCCAAAGATGCTCACGATGAC	0.607																																						uc002ycf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)AGC>AAC		histamine receptor H3	Histamine Phosphate(DB00667)						45.0	46.0	45.0					20																	60791306		2202	4299	6501	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791306C>T	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.1094G>A	20.37:g.60791306C>T	ENSP00000342560:p.Ser365Asn					HRH3_uc002ycg.2_Missense_Mutation_p.S285N|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.S365N	p.S365N	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	1391	-	Breast(26;7.76e-09)		365			Helical; Name=6; (Potential).		Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.1094G>A	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526550	0.85706	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.38077	1.16;1.16	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.137550	0.64402	D	0.000003	T	0.53867	0.1823	L	0.60455	1.87	0.40506	D	0.980692	D;D;P	0.61697	0.979;0.99;0.891	P;P;P	0.60117	0.798;0.869;0.494	T	0.58317	-0.7657	10	0.54805	T	0.06	-36.2055	17.8118	0.88619	0.0:1.0:0.0:0.0	.	365;285;365	Q9Y5N1-2;Q8WXZ9;Q9Y5N1	.;.;HRH3_HUMAN	N	365;365;335	ENSP00000342560:S365N;ENSP00000321482:S365N	ENSP00000321482:S365N	S	-	2	0	HRH3	60224701	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.723000	0.84788	2.184000	0.69523	0.407000	0.27541	AGC		PASS	0.607	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		26	46	26	46	---	---	---	---
STMN3	50861	broad.mit.edu	37	20	62275622	62275622	+	Silent	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr20:62275622G>T	ENST00000370053.1	-	2	141	c.60C>A	c.(58-60)ctC>ctA	p.L20L	STMN3_ENST00000540534.1_Silent_p.L9L	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	20					cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)	p.L20L(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			AGGAGCAGATGAGCGACAGCA	0.652																																						uc002yfr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)CTC>CTA		SCG10-like-protein							189.0	145.0	160.0					20																	62275622		2203	4300	6503	SO:0001819	synonymous_variant	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62275622G>T	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.60C>A	20.37:g.62275622G>T						STMN3_uc011abb.1_Silent_p.L20L	p.L20L	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		2	142	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		20					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Silent	SNP	ENST00000370053.1	37	c.60C>A	CCDS13529.1																																																																																				PASS	0.652	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		13	35	13	35	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17072690	17072690	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr22:17072690C>A	ENST00000359963.3	-	1	1010	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	251					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.A251S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTGGATGGGCAGGACCAAAG	0.517																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(751-753)GCC>TCC		T-complex protein 1							93.0	87.0	89.0					22																	17072690		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072690C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.751G>T	22.37:g.17072690C>A	ENSP00000353048:p.Ala251Ser						p.A251S	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1011	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	251					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.751G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	8.545	0.874143	0.17395	.	.	ENSG00000198445	ENST00000359963	T	0.78924	-1.22	1.98	1.98	0.26296	.	0.756413	0.10774	N	0.635653	T	0.59059	0.2166	N	0.17278	0.47	0.09310	N	1	B	0.16166	0.016	B	0.22152	0.038	T	0.43621	-0.9380	10	0.13108	T	0.6	-2.6113	7.4423	0.27190	0.0:1.0:0.0:0.0	.	251	Q96SF2	TCPQM_HUMAN	S	251	ENSP00000353048:A251S	ENSP00000353048:A251S	A	-	1	0	CCT8L2	15452690	0.004000	0.15560	0.013000	0.15412	0.650000	0.38633	0.750000	0.26334	1.115000	0.41800	0.379000	0.24179	GCC		PASS	0.517	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			19	101	19	101	---	---	---	---
RSPH14	27156	broad.mit.edu	37	22	23482493	23482493	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr22:23482493C>A	ENST00000216036.4	-	2	311	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	RTDR1_ENST00000406876.1_Missense_Mutation_p.D39Y	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		39								p.D39Y(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GTCTGGAGGTCCTCTGACTGC	0.557																																						uc002zwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)GAC>TAC		rhabdoid tumor deletion region protein 1							157.0	120.0	132.0					22																	23482493		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23482493C>A																												ENST00000216036.4:c.115G>T	22.37:g.23482493C>A	ENSP00000216036:p.Asp39Tyr					RTDR1_uc010gtv.1_Missense_Mutation_p.D39Y	p.D39Y	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	2	273	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		39						Missense_Mutation	SNP	ENST00000216036.4	37	c.115G>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453914	0.43531	.	.	ENSG00000100218	ENST00000216036;ENST00000406876	T;T	0.22336	1.96;1.96	4.91	2.67	0.31697	Armadillo-like helical (1);Armadillo-type fold (1);	0.558114	0.17570	N	0.169495	T	0.40767	0.1130	M	0.73598	2.24	0.38016	D	0.934695	D;D	0.60575	0.988;0.981	D;P	0.64321	0.924;0.744	T	0.38156	-0.9674	10	0.56958	D	0.05	-12.8316	9.6725	0.40021	0.1591:0.6872:0.1536:0.0	.	60;39	B7Z5X4;Q9UHP6	.;RTDR1_HUMAN	Y	39	ENSP00000216036:D39Y;ENSP00000385567:D39Y	ENSP00000216036:D39Y	D	-	1	0	RTDR1	21812493	0.925000	0.31364	0.045000	0.18777	0.404000	0.30871	1.449000	0.35123	0.525000	0.28522	0.561000	0.74099	GAC		PASS	0.557	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			4	55	4	55	---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26118334	26118334	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr22:26118334C>G	ENST00000324198.6	+	21	2176	c.1984C>G	c.(1984-1986)Ccg>Gcg	p.P662A		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	662					receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.P662A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GCGTCGTGCCCCGAAGTTCCT	0.542																																						uc003abx.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7						c.(1984-1986)CCG>GCG		beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)						104.0	97.0	100.0					22																	26118334		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26118334C>G	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1984C>G	22.37:g.26118334C>G	ENSP00000317578:p.Pro662Ala					ADRBK2_uc003aby.3_RNA	p.P662A	NM_005160	NP_005151	P35626	ARBK2_HUMAN			21	2131	+			662					Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1984C>G	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637249	0.29157	.	.	ENSG00000100077	ENST00000324198	T	0.55588	0.51	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	N	0.08118	0	0.80722	D	1	B	0.16802	0.019	B	0.10450	0.005	T	0.13229	-1.0517	10	0.20046	T	0.44	-16.4738	18.1943	0.89815	0.0:1.0:0.0:0.0	.	662	P35626	ARBK2_HUMAN	A	662	ENSP00000317578:P662A	ENSP00000317578:P662A	P	+	1	0	ADRBK2	24448334	1.000000	0.71417	0.537000	0.28052	0.026000	0.11368	6.938000	0.75904	2.536000	0.85505	0.650000	0.86243	CCG		PASS	0.542	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		26	71	26	71	---	---	---	---
SLC25A17	10478	broad.mit.edu	37	22	41195076	41195076	+	Silent	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chr22:41195076T>A	ENST00000435456.2	-	2	199	c.66A>T	c.(64-66)acA>acT	p.T22T	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_5'UTR|SLC25A17_ENST00000542412.1_Silent_p.T22T	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	22	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)	p.T22T(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CTGTCATTGCTGTCACGCTTC	0.383																																						uc003azc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)ACA>ACT		solute carrier family 25 (mitochondrial carrier;							85.0	73.0	77.0					22																	41195076		2203	4300	6503	SO:0001819	synonymous_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41195076T>A	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.66A>T	22.37:g.41195076T>A						SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_5'UTR|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Silent_p.T22T	p.T22T	NM_006358	NP_006349	O43808	PM34_HUMAN			2	206	-			22			Solcar 1.|Helical; Name=1; (Potential).		A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Silent	SNP	ENST00000435456.2	37	c.66A>T	CCDS14005.1																																																																																				PASS	0.383	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		16	27	16	27	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18797254	18797254	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:18797254T>A	ENST00000361511.4	+	10	1179	c.685T>A	c.(685-687)Ttg>Atg	p.L229M	PPEF1_ENST00000544635.1_Missense_Mutation_p.L164M|PPEF1_ENST00000349874.5_Missense_Mutation_p.L229M|PPEF1_ENST00000359763.6_Missense_Mutation_p.L176M|PPEF1_ENST00000543630.1_Missense_Mutation_p.L229M	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	229	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.L229M(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TGACCTGCACTTGAACAGAGG	0.398																																						uc004cyq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)TTG>ATG		protein phosphatase with EF hand calcium-binding							124.0	115.0	118.0					X																	18797254		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18797254T>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.685T>A	X.37:g.18797254T>A	ENSP00000354871:p.Leu229Met					PPEF1_uc004cyp.2_Missense_Mutation_p.L229M|PPEF1_uc004cyr.2_Missense_Mutation_p.L229M|PPEF1_uc004cys.2_Missense_Mutation_p.L229M|PPEF1_uc011mja.1_Missense_Mutation_p.L164M|PPEF1_uc011mjb.1_Missense_Mutation_p.L173M	p.L229M	NM_006240	NP_006231	O14829	PPE1_HUMAN			10	1166	+	Hepatocellular(33;0.183)		229			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.685T>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470515	0.63625	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000544635	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.19	0.178	0.15058	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.44902	D	0.000406	D	0.90669	0.7073	M	0.76938	2.355	0.48762	D	0.999703	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.86832	0.2011	10	0.56958	D	0.05	-12.0531	5.4362	0.16482	0.1452:0.4157:0.0:0.4391	.	229;229;229	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	M	229;176;229;229;164	ENSP00000354871:L229M;ENSP00000352806:L176M;ENSP00000341892:L229M;ENSP00000437785:L229M;ENSP00000441289:L164M	ENSP00000341892:L229M	L	+	1	2	PPEF1	18707175	1.000000	0.71417	0.878000	0.34440	0.985000	0.73830	1.112000	0.31172	-0.076000	0.12775	0.430000	0.28490	TTG		PASS	0.398	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		46	50	46	50	---	---	---	---
RPS6KA3	6197	broad.mit.edu	37	X	20195156	20195156	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:20195156G>A	ENST00000379565.3	-	11	1099	c.892C>T	c.(892-894)Ctt>Ttt	p.L298F	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.L270F|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.L270F|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.L269F	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	298	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L298F(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	ATTCGTAAAAGACTCTGCGCT	0.318																																						uc004czu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						c.(892-894)CTT>TTT		ribosomal protein S6 kinase, 90kDa, polypeptide							64.0	67.0	66.0					X																	20195156		2203	4300	6503	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20195156G>A	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.892C>T	X.37:g.20195156G>A	ENSP00000368884:p.Leu298Phe					RPS6KA3_uc011mjk.1_Missense_Mutation_p.L269F|RPS6KA3_uc004czv.2_Missense_Mutation_p.L286F|RPS6KA3_uc011mjl.1_Missense_Mutation_p.L270F|RPS6KA3_uc011mjm.1_Missense_Mutation_p.L270F	p.L298F	NM_004586	NP_004577	P51812	KS6A3_HUMAN			11	892	-			298			Protein kinase 1.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.892C>T	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820953	0.71028	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	L	0.28014	0.82	0.80722	D	1	D;D;D;D	0.89917	0.998;0.971;1.0;0.999	P;P;D;D	0.77557	0.906;0.681;0.99;0.942	T	0.58668	-0.7596	10	0.29301	T	0.29	.	18.5184	0.90943	0.0:0.0:1.0:0.0	.	270;269;270;298	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	F	298;270;269;270	ENSP00000368884:L298F;ENSP00000440220:L270F;ENSP00000368865:L269F;ENSP00000444837:L270F	ENSP00000368865:L269F	L	-	1	0	RPS6KA3	20105077	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.601000	0.67606	2.315000	0.78130	0.513000	0.50165	CTT		PASS	0.318	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		32	49	32	49	---	---	---	---
PTCHD1	139411	broad.mit.edu	37	X	23411778	23411778	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:23411778G>A	ENST00000379361.4	+	3	3003	c.2143G>A	c.(2143-2145)Gca>Aca	p.A715T		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	715					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.A715T(1)|p.A610T(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTTCTTCTCGGCATTCCTGGT	0.483																																						uc004dal.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(2143-2145)GCA>ACA		patched domain containing 1							116.0	103.0	107.0					X																	23411778		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411778G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2143G>A	X.37:g.23411778G>A	ENSP00000368666:p.Ala715Thr						p.A715T	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	2151	+			715			Helical; (Potential).		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2143G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	9.111	1.006482	0.19199	.	.	ENSG00000165186	ENST00000379361	D	0.95412	-3.7	5.34	5.34	0.76211	.	0.118942	0.64402	D	0.000017	D	0.87849	0.6281	N	0.03608	-0.345	0.33917	D	0.64035	B	0.17465	0.022	B	0.18263	0.021	D	0.87318	0.2316	10	0.39692	T	0.17	.	13.1334	0.59395	0.0:0.0:0.8402:0.1598	.	715	Q96NR3	PTHD1_HUMAN	T	715	ENSP00000368666:A715T	ENSP00000368666:A715T	A	+	1	0	PTCHD1	23321699	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.785000	0.62418	2.216000	0.71823	0.529000	0.55759	GCA		PASS	0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		4	72	4	72	---	---	---	---
SLC35A2	7355	broad.mit.edu	37	X	48762630	48762630	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:48762630G>C	ENST00000247138.5	-	4	559	c.556C>G	c.(556-558)Caa>Gaa	p.Q186E	SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.Q125E|SLC35A2_ENST00000452555.2_Missense_Mutation_p.Q214E|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376521.1_Missense_Mutation_p.Q186E	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	186					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)	p.Q186E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CCACCGGCTTGCTGTGCCTGG	0.662																																						uc004dlo.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(556-558)CAA>GAA		solute carrier family 35, member A2 isoform a							16.0	14.0	14.0					X																	48762630		2190	4280	6470	SO:0001583	missense	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762630G>C	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.556C>G	X.37:g.48762630G>C	ENSP00000247138:p.Gln186Glu					SLC35A2_uc011mml.1_Missense_Mutation_p.Q199E|SLC35A2_uc004dlp.1_Missense_Mutation_p.Q186E|SLC35A2_uc011mmm.1_Missense_Mutation_p.Q214E|SLC35A2_uc011mmn.1_Missense_Mutation_p.Q125E|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	p.Q186E	NM_005660	NP_005651	P78381	S35A2_HUMAN			4	560	-			186			Helical; (Potential).		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.556C>G	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520337	0.27211	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555;ENST00000446885	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	4.99	4.99	0.66335	.	0.286197	0.34603	N	0.003828	T	0.32071	0.0817	N	0.25647	0.755	0.58432	D	0.999999	B;B;B;B;B	0.29766	0.024;0.256;0.112;0.216;0.012	B;B;B;B;B	0.35813	0.009;0.211;0.065;0.134;0.055	T	0.08066	-1.0740	10	0.12103	T	0.63	-4.0401	14.0714	0.64863	0.0:0.0:1.0:0.0	.	125;214;199;186;186	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	E	186;186;125;214;114	ENSP00000247138:Q186E;ENSP00000365704:Q186E;ENSP00000393233:Q125E;ENSP00000416002:Q214E;ENSP00000415518:Q114E	ENSP00000247138:Q186E	Q	-	1	0	SLC35A2	48647574	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.651000	0.74372	2.291000	0.77112	0.600000	0.82982	CAA		PASS	0.662	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		6	4	6	4	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54783662	54783662	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:54783662C>A	ENST00000218436.6	-	8	2874	c.2845G>T	c.(2845-2847)Ggt>Tgt	p.G949C		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	949	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G949C(1)									CTCTGGGGACCCGGGAGGAGG	0.592																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2845-2847)GGT>TGT		inter-alpha (globulin) inhibitor H5-like							67.0	63.0	65.0					X																	54783662		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783662C>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2845G>T	X.37:g.54783662C>A	ENSP00000218436:p.Gly949Cys						p.G949C	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2875	-			949			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2845G>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	5.227	0.227401	0.09916	.	.	ENSG00000102313	ENST00000218436	T	0.02579	4.24	2.95	2.08	0.27032	.	11.134800	0.00644	U	0.000522	T	0.03871	0.0109	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.49561	0.615	T	0.32771	-0.9894	10	0.66056	D	0.02	.	5.2501	0.15517	0.0:0.8334:0.0:0.1666	.	949	Q6UXX5	ITH5L_HUMAN	C	949	ENSP00000218436:G949C	ENSP00000218436:G949C	G	-	1	0	ITIH5L	54800387	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.193000	0.17116	0.647000	0.30713	-0.199000	0.12753	GGT		PASS	0.592	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	18	9	18	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70823780	70823781	+	Missense_Mutation	DNP	AG	AG	GC	rs138572604|rs141229655	byFrequency	TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:70823780_70823781AG>GC	ENST00000373695.1	+	7	1190_1191	c.653_654AG>GC	c.(652-654)aAG>aGC	p.K218S	ACRC_ENST00000373696.3_Missense_Mutation_p.K218S			Q96QF7	ACRC_HUMAN	acidic repeat containing	218	Asp/Ser-rich.					nucleus (GO:0005634)		p.K218N(1)|p.K218S(1)|p.K218R(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAAGAGTGATGATT	0.505																																						uc004eae.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(652-654)AAG>AGG|c.(652-654)AAG>AAC		ACRC protein																																				SO:0001583	missense	93953					nucleus		g.chrX:70823780A>G|g.chrX:70823781G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	Exception_encountered	X.37:g.70823780_70823781delinsGC	ENSP00000362799:p.Lys218Ser					BCYRN1_uc011mpt.1_Intron	p.K218R|p.K218N	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1154|1155	+	Renal(35;0.156)		218			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.653A>G|c.654G>C	CCDS35326.1																																																																																				PASS	0.505	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			34|42	170|160	34	160	---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216168	78216168	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:78216168G>T	ENST00000171757.2	+	4	431	c.151G>T	c.(151-153)Gct>Tct	p.A51S	P2RY10_ENST00000544091.1_Missense_Mutation_p.A51S|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.A51S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGGTCTTCTGGCTAACAGTGC	0.428																																						uc004ede.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(151-153)GCT>TCT		G-protein coupled purinergic receptor P2Y10							168.0	132.0	144.0					X																	78216168		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216168G>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.151G>T	X.37:g.78216168G>T	ENSP00000171757:p.Ala51Ser					P2RY10_uc004edf.2_Missense_Mutation_p.A51S	p.A51S	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	520	+			51			Helical; Name=1; (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.151G>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	0.684	-0.797217	0.02862	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37584	1.19;1.19	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.323210	0.31221	N	0.008034	T	0.27765	0.0683	L	0.38531	1.155	0.29685	N	0.841385	B	0.30526	0.283	B	0.33196	0.159	T	0.16217	-1.0410	10	0.22706	T	0.39	.	9.6326	0.39789	0.0975:0.0:0.9025:0.0	.	51	O00398	P2Y10_HUMAN	S	51	ENSP00000443138:A51S;ENSP00000171757:A51S	ENSP00000171757:A51S	A	+	1	0	P2RY10	78102824	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	2.086000	0.41643	2.316000	0.78162	0.422000	0.28245	GCT		PASS	0.428	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			30	57	30	57	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85631865	85631865	+	Splice_Site	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:85631865G>A	ENST00000373125.4	+	2	527	c.527G>A	c.(526-528)aGt>aAt	p.S176N	DACH2_ENST00000510272.1_Intron|DACH2_ENST00000508860.1_Splice_Site_p.S9N|DACH2_ENST00000373131.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	176					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						gctgttaacaggtatttatgt	0.333																																						uc004eew.2																			1	Unknown(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(526-528)AGT>AAT		dachshund 2 isoform a							18.0	17.0	18.0					X																	85631865		2175	4252	6427	SO:0001630	splice_region_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85631865G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.527+1G>A	X.37:g.85631865G>A						DACH2_uc004eex.2_Intron|DACH2_uc010nmq.2_Intron|DACH2_uc011mra.1_Missense_Mutation_p.S9N|DACH2_uc010nmr.2_Intron	p.S176N	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			2	697	+			176					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.527G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583877	0.46110	.	.	ENSG00000126733	ENST00000344497;ENST00000373125;ENST00000508860	D	0.84442	-1.85	3.78	2.9	0.33743	.	0.136089	0.49916	D	0.000132	T	0.74935	0.3782	L	0.43923	1.385	0.80722	D	1	P	0.37824	0.609	B	0.34590	0.186	T	0.72737	-0.4203	10	0.40728	T	0.16	.	5.6376	0.17546	0.1498:0.0:0.8502:0.0	.	176	Q96NX9	DACH2_HUMAN	N	176;176;9	ENSP00000362217:S176N	ENSP00000345134:S176N	S	+	2	0	DACH2	85518521	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.644000	0.54381	1.880000	0.54463	0.462000	0.41574	AGT		PASS	0.333	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	Missense_Mutation	4	4	4	4	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140926178	140926178	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:140926178G>A	ENST00000298296.1	+	1	77	c.77G>A	c.(76-78)tGt>tAt	p.C26Y		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	26								p.C26Y(1)|p.C26S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAACACATGTGCCACATAT	0.567																																						uc011mwp.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(76-78)TGT>TAT		melanoma antigen family C, 3 isoform 1							137.0	100.0	112.0					X																	140926178		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140926178G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.77G>A	X.37:g.140926178G>A	ENSP00000298296:p.Cys26Tyr						p.C26Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			1	77	+	Acute lymphoblastic leukemia(192;6.56e-05)		26					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.77G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	G	7.422	0.636995	0.14386	.	.	ENSG00000165509	ENST00000298296	T	0.08720	3.06	0.427	0.427	0.16489	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	P	0.51240	0.943	P	0.58013	0.831	T	0.34204	-0.9838	8	0.87932	D	0	.	.	.	.	.	26	Q8TD91	MAGC3_HUMAN	Y	26	ENSP00000298296:C26Y	ENSP00000298296:C26Y	C	+	2	0	MAGEC3	140753844	0.111000	0.22076	0.002000	0.10522	0.002000	0.02628	0.355000	0.20163	0.417000	0.25871	0.422000	0.28245	TGT		PASS	0.567	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		29	36	29	36	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144904178	144904178	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6546-01A-11D-1817-08	TCGA-56-6546-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	87e71949-5bd9-458c-95f7-4b19882c2b4f	7fef8d17-057d-4bd4-821c-099460f6484b	g.chrX:144904178C>A	ENST00000370490.1	+	1	4490	c.235C>A	c.(235-237)Cca>Aca	p.P79T	SLITRK2_ENST00000447897.2_Missense_Mutation_p.P79T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P79T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P79T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P79T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	79					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P79T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACTGTATCCAAACGAATT	0.468																																						uc004fcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(235-237)CCA>ACA		SLIT and NTRK-like family, member 2 precursor							94.0	87.0	89.0					X																	144904178		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904178C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.235C>A	X.37:g.144904178C>A	ENSP00000359521:p.Pro79Thr					SLITRK2_uc010nsp.2_Missense_Mutation_p.P79T|SLITRK2_uc010nso.2_Missense_Mutation_p.P79T|SLITRK2_uc011mwq.1_Missense_Mutation_p.P79T|SLITRK2_uc011mwr.1_Missense_Mutation_p.P79T|SLITRK2_uc011mws.1_Missense_Mutation_p.P79T|SLITRK2_uc004fcg.2_Missense_Mutation_p.P79T|SLITRK2_uc011mwt.1_Missense_Mutation_p.P79T	p.P79T	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1225	+	Acute lymphoblastic leukemia(192;6.56e-05)		79			Extracellular (Potential).|LRR 1.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.235C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	7.321	0.616901	0.14129	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	5.08	5.08	0.68730	.	0.129978	0.52532	U	0.000077	T	0.48768	0.1518	L	0.41573	1.285	0.46096	D	0.99886	B	0.24368	0.102	B	0.20577	0.03	T	0.42649	-0.9439	10	0.30854	T	0.27	-5.4573	14.8435	0.70243	0.0:1.0:0.0:0.0	.	79	Q9H156	SLIK2_HUMAN	T	79	ENSP00000334374:P79T;ENSP00000411681:P79T;ENSP00000359521:P79T;ENSP00000397015:P79T;ENSP00000407347:P79T;ENSP00000412010:P79T	ENSP00000334374:P79T	P	+	1	0	SLITRK2	144711870	1.000000	0.71417	0.533000	0.28001	0.708000	0.40852	4.208000	0.58486	2.087000	0.62958	0.600000	0.82982	CCA		PASS	0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		18	51	18	51	---	---	---	---
